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 100340251 100340251 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 100340251 100340251 C T SNP AGL ENST00000294724 human ensembl 74_37 +1 known nonsense c.967 p.R323* 0.081 superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met - no_errors AGL HGNC ENSG00000162688 36 0 0 38 5 11.6279 TRMT13 0 genome.wustl.edu 37 1 100606013 100606013 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 100606013 100606013 C T SNP TRMT13 ENST00000370141 human ensembl 74_37 +1 known silent c.444 p.H148 0.630 NULL pfam_Methyltransferase_TRM13,pfam_Znf_CCCH-type_TRM13,pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors TRMT13 HGNC ENSG00000122435 134 0 0 132 7 5.03597 RTCA 0 genome.wustl.edu 37 1 100740462 100740462 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 100740462 100740462 C T SNP RTCA ENST00000260563 human ensembl 74_37 +1 known missense c.595 p.R199C 0.985 pfam_RNA3'_phos_cyclase_dom,pfam_RNA3'-term_phos_cycl_insert,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,superfamily_RNA3'-term_phos_cycl_insert,tigrfam_RNA3'_term_phos_cyc_type_1 pfam_RNA3'_phos_cyclase_dom,pfam_RNA3'-term_phos_cycl_insert,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,superfamily_RNA3'-term_phos_cycl_insert,tigrfam_RNA3'_term_phos_cyc_type_1 - no_errors RTCA HGNC ENSG00000137996 102 0 0 64 8 11.1111 VCAM1 0 genome.wustl.edu 37 1 101194751 101194751 + Silent SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 101194751 101194751 C A SNP VCAM1 ENST00000294728 human ensembl 74_37 +1 known silent c.1017 p.G339 0.971 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 121 0 0 67 27 28.7234 UBE4B 0 genome.wustl.edu 37 1 10155571 10155571 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 10155571 10155571 G A SNP UBE4B ENST00000343090 human ensembl 74_37 +1 known silent c.264 p.S88 0.995 NULL pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 105 0 0 68 32 32 UBE4B 0 genome.wustl.edu 37 1 10197233 10197233 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 10197233 10197233 G A SNP UBE4B ENST00000343090 human ensembl 74_37 +1 known missense c.2333 p.R778H 1.000 pfam_Ub_conjug_fac_E4_core pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 135 0 0 121 12 9.02256 AMY2A 0 genome.wustl.edu 37 1 104162234 104162234 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 104162234 104162234 G A SNP AMY2A ENST00000414303 human ensembl 74_37 +1 known missense c.572 p.R191H 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,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2A HGNC ENSG00000243480 116 0 0 84 20 19.2308 CASZ1 0 genome.wustl.edu 37 1 10706370 10706370 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 10706370 10706370 C T SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known missense c.3511 p.A1171T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 47 0 0 20 6 23.0769 NTNG1 0 genome.wustl.edu 37 1 107867347 107867347 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 107867347 107867347 G A SNP NTNG1 ENST00000370068 human ensembl 74_37 +1 known silent c.690 p.A230 0.001 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC ENSG00000162631 58 0 0 58 6 9.375 FAM102B 0 genome.wustl.edu 37 1 109154858 109154858 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 109154858 109154858 G A SNP FAM102B ENST00000370035 human ensembl 74_37 +1 known missense c.347 p.R116H 1.000 pfam_NT-C2 pfam_NT-C2 - no_errors FAM102B HGNC ENSG00000162636 128 0 0 87 36 29.2683 GPSM2 0 genome.wustl.edu 37 1 109461284 109461284 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 109461284 109461284 C T SNP GPSM2 ENST00000264126 human ensembl 74_37 +1 known missense c.1313 p.A438V 1.000 NULL pfam_GoLoco_motif,pfam_TPR_1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GPSM2 HGNC ENSG00000121957 115 0 0 86 7 7.52688 CELSR2 0 genome.wustl.edu 37 1 109811556 109811556 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 109811556 109811556 G A SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.6557 p.R2186H 1.000 pfam_DUF3497 pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 59 0 0 31 9 22.5 MYBPHL 0 genome.wustl.edu 37 1 109840068 109840068 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 109840068 109840068 C T SNP MYBPHL ENST00000357155 human ensembl 74_37 -1 known missense c.406 p.A136T 0.905 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPHL HGNC ENSG00000221986 57 0 0 36 9 20 AMPD2 0 genome.wustl.edu 37 1 110172028 110172028 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 110172028 110172028 C T SNP AMPD2 ENST00000256578 human ensembl 74_37 +1 known missense c.1940 p.A647V 0.975 pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD2 HGNC ENSG00000116337 180 0 0 118 41 25.7862 ALX3 0 genome.wustl.edu 37 1 110603359 110603359 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 110603359 110603359 G A SNP ALX3 ENST00000369792 human ensembl 74_37 -1 known missense c.1028 p.T343M 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors ALX3 HGNC ENSG00000156150 61 0 0 44 13 22.807 SLC6A17 0 genome.wustl.edu 37 1 110737374 110737374 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 110737374 110737374 G A SNP SLC6A17 ENST00000331565 human ensembl 74_37 +1 known silent c.1473 p.V491 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A17 HGNC ENSG00000197106 59 0 0 50 4 7.40741 RBM15 0 genome.wustl.edu 37 1 110884009 110884009 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 110884009 110884009 G A SNP RBM15 ENST00000369784 human ensembl 74_37 +1 known missense c.1982 p.R661H 0.968 NULL pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15 HGNC ENSG00000162775 51 0 0 29 7 19.4444 KCNA3 0 genome.wustl.edu 37 1 111216253 111216253 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 111216253 111216253 C T SNP KCNA3 ENST00000369769 human ensembl 74_37 -1 known silent c.1179 p.A393 0.992 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC ENSG00000177272 114 0 0 87 8 8.42105 LRIF1 0 genome.wustl.edu 37 1 111495126 111495126 + Missense_Mutation SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 111495126 111495126 T A SNP LRIF1 ENST00000369763 human ensembl 74_37 -1 known missense c.380 p.N127I 0.895 NULL NULL - no_errors LRIF1 HGNC ENSG00000121931 113 0 0 79 25 24.0385 OVGP1 0 genome.wustl.edu 37 1 111969183 111969183 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 111969183 111969183 G A SNP OVGP1 ENST00000369732 human ensembl 74_37 -1 known silent c.136 p.L46 1.000 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors OVGP1 HGNC ENSG00000085465 64 0 0 30 10 25 KCND3 0 genome.wustl.edu 37 1 112524688 112524688 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 112524688 112524688 G A SNP KCND3 ENST00000315987 human ensembl 74_37 -1 known missense c.661 p.R221C 1.000 prints_K_chnl_volt-dep_Kv4 pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND3 HGNC ENSG00000171385 25 0 0 11 9 45 ANGPTL7 0 genome.wustl.edu 37 1 11253813 11253813 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 11253813 11253813 G A SNP ANGPTL7 ENST00000376819 human ensembl 74_37 +1 known silent c.654 p.R218 0.999 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 ANGPTL7 HGNC ENSG00000171819 33 0 0 21 9 30 MTOR 0 genome.wustl.edu 37 1 11308151 11308151 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 11308151 11308151 G A SNP MTOR ENST00000361445 human ensembl 74_37 -1 known missense c.841 p.R281C 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 98 0 0 72 16 18.1818 CAPZA1 0 genome.wustl.edu 37 1 113189836 113189836 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 113189836 113189836 G A SNP CAPZA1 ENST00000263168 human ensembl 74_37 +1 known missense c.44 p.R15H 1.000 pfam_CapZ_alpha pfam_CapZ_alpha,prints_CapZ_alpha - no_errors CAPZA1 HGNC ENSG00000116489 121 0 0 86 14 14 HIPK1 0 genome.wustl.edu 37 1 114499899 114499899 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 114499899 114499899 G A SNP HIPK1 ENST00000369558 human ensembl 74_37 +1 known silent c.1746 p.V582 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 HIPK1 HGNC ENSG00000163349 89 0 0 42 19 31.1475 TRIM33 0 genome.wustl.edu 37 1 114967378 114967378 + Splice_Site SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 114967378 114967378 C T SNP TRIM33 ENST00000358465 human ensembl 74_37 -1 known splice_site c.1696-1 e10-1 1.000 - - - no_errors TRIM33 HGNC ENSG00000197323 29 0 0 31 3 8.82353 PTCHD2 0 genome.wustl.edu 37 1 11562098 11562098 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 11562098 11562098 G A SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known missense c.1049 p.G350D 1.000 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 39 0 0 11 7 38.8889 PTCHD2 0 genome.wustl.edu 37 1 11574496 11574496 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 11574496 11574496 C T SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known missense c.1366 p.R456C 1.000 pfam_Patched,pfam_MMPL_dom pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 102 0 0 59 26 30.5882 NGF 0 genome.wustl.edu 37 1 115828756 115828756 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 115828756 115828756 G A SNP NGF ENST00000369512 human ensembl 74_37 -1 known missense c.661 p.R221W 1.000 pirsf_Nerve_growth_factor-like,pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel pirsf_Nerve_growth_factor-like,pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Nerve_growth_factor_bsu_mml,prints_Nerve_growth_factor_bsu,pfscan_Nerve_growth_factor-rel - no_errors NGF HGNC ENSG00000134259 75 0 0 47 13 21.6667 IGSF3 0 genome.wustl.edu 37 1 117156493 117156493 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 117156493 117156493 G A SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known silent c.726 p.G242 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF3 HGNC ENSG00000143061 28 0 0 24 9 27.2727 CD101 0 genome.wustl.edu 37 1 117556343 117556343 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 117556343 117556343 G A SNP CD101 ENST00000256652 human ensembl 74_37 +1 known missense c.1157 p.R386H 0.000 smart_Ig_sub,pfscan_Ig-like_dom 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 32 0 0 18 9 33.3333 SPAG17 0 genome.wustl.edu 37 1 118634571 118634571 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 118634571 118634571 G A SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known missense c.1228 p.P410S 0.000 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 292 0 0 191 52 21.3992 NPPA 0 genome.wustl.edu 37 1 11907202 11907202 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 11907202 11907202 C T SNP NPPA ENST00000376480 human ensembl 74_37 -1 known missense c.418 p.A140T 1.000 pfam_Natr_peptide,smart_Natr_peptide,prints_Natriuretic_peptide_atrial,prints_Natr_peptide pfam_Natr_peptide,smart_Natr_peptide,prints_Natriuretic_peptide_atrial,prints_Natr_peptide - no_errors NPPA HGNC ENSG00000175206 234 0 0 154 48 23.7624 HSD3B2 0 genome.wustl.edu 37 1 119965056 119965056 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 119965056 119965056 A G SNP HSD3B2 ENST00000369416 human ensembl 74_37 +1 known missense c.932 p.Q311R 0.000 NULL pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_NmrA,pfam_PKS_KR - no_errors HSD3B2 HGNC ENSG00000203859 72 0 0 49 7 12.5 PLOD1 0 genome.wustl.edu 37 1 12024350 12024350 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 12024350 12024350 C T SNP PLOD1 ENST00000376369 human ensembl 74_37 +1 known missense c.1462 p.R488W 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD1 HGNC ENSG00000083444 138 0 0 75 29 27.8846 NOTCH2 0 genome.wustl.edu 37 1 120462077 120462077 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 120462077 120462077 G A SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known missense c.5639 p.A1880V 1.000 pirsf_Notch,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 32 0 0 39 5 11.3636 NOTCH2 0 genome.wustl.edu 37 1 120483245 120483245 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 120483245 120483245 G A SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known missense c.3116 p.T1039M 0.025 pirsf_Notch,pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 129 0 0 94 26 21.6667 VPS13D 0 genome.wustl.edu 37 1 12387789 12387789 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 12387789 12387789 G A SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.8075 p.S2692N 0.216 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 148 0 0 107 37 25.6944 DHRS3 0 genome.wustl.edu 37 1 12640620 12640620 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 12640620 12640620 G A SNP DHRS3 ENST00000376223 human ensembl 74_37 -1 known silent c.270 p.C90 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,smart_PKS/FAS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS3 HGNC ENSG00000162496 53 0 0 39 10 20.4082 PRAMEF12 0 genome.wustl.edu 37 1 12836065 12836065 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 12836065 12836065 G A SNP PRAMEF12 ENST00000357726 human ensembl 74_37 +1 known missense c.667 p.A223T 0.836 NULL NULL - no_errors PRAMEF12 HGNC ENSG00000116726 144 0 0 95 33 25.7812 PRAMEF11 0 genome.wustl.edu 37 1 12884930 12884930 + Missense_Mutation SNP A A C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 12884930 12884930 A C SNP PRAMEF11 ENST00000535591 human ensembl 74_37 -1 known missense c.1181 p.I394S 0.000 NULL NULL - no_errors PRAMEF11 HGNC ENSG00000204513 332 0 0 259 20 7.16846 HNRNPCL1 0 genome.wustl.edu 37 1 12907861 12907861 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 12907861 12907861 G A SNP HNRNPCL1 ENST00000317869 human ensembl 74_37 -1 known silent c.282 p.N94 0.009 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors HNRNPCL1 HGNC ENSG00000179172 183 0 0 135 18 11.7647 PRAMEF13 0 genome.wustl.edu 37 1 13448474 13448474 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 13448474 13448474 C T SNP PRAMEF13 ENST00000376132 human ensembl 74_37 -1 known missense c.1001 p.R334H 0.000 NULL NULL - no_errors PRAMEF13 HGNC ENSG00000204495 34 0 0 18 5 21.7391 PRAMEF14 0 genome.wustl.edu 37 1 13669154 13669154 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 13669154 13669154 A G SNP PRAMEF14 ENST00000344998 human ensembl 74_37 -1 known silent c.1032 p.G344 0.003 NULL NULL - no_errors PRAMEF14 HGNC ENSG00000204481 131 0 0 82 11 11.828 PRAMEF20 0 genome.wustl.edu 37 1 13742962 13742962 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 13742962 13742962 G A SNP PRAMEF20 ENST00000316412 human ensembl 74_37 +1 known missense c.151 p.A51T 0.001 NULL NULL - no_errors PRAMEF20 HGNC ENSG00000204478 31 0 0 32 10 23.8095 ATAD3C 0 genome.wustl.edu 37 1 1397993 1397993 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 1397993 1397993 G A SNP ATAD3C ENST00000378785 human ensembl 74_37 +1 known missense c.994 p.A332T 1.000 superfamily_P-loop_NTPase pfam_DUF3523,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD3C HGNC ENSG00000215915 21 0 0 16 4 20 PRDM2 0 genome.wustl.edu 37 1 14105372 14105372 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 14105372 14105372 C T SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known missense c.1082 p.P361L 0.998 smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_Znf_C2H2 pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 124 0 0 76 30 28.3019 PRDM2 0 genome.wustl.edu 37 1 14105506 14105506 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 14105506 14105506 C T SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known missense c.1216 p.R406W 0.945 smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_Znf_C2H2 pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 68 0 0 54 16 22.8571 ENSG00000203849 0 genome.wustl.edu 37 1 142713336 142713336 + RNA SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 142713336 142713336 C A SNP ENSG00000203849 ENST00000369381 human ensembl 74_37 -1 known rna NULL NULL 0.661 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 53 0 0 31 15 32.6087 ENSG00000234978 0 genome.wustl.edu 37 1 142804606 142804606 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 142804606 142804606 G A SNP ENSG00000234978 ENST00000423385 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-423O2.5 Clone_based_vega_gene ENSG00000234978 23 0 0 11 3 21.4286 ENSG00000242569 0 genome.wustl.edu 37 1 143364977 143364977 + RNA SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 143364977 143364977 T C SNP ENSG00000242569 ENST00000411775 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-435B5.3 Clone_based_vega_gene ENSG00000242569 43 0 0 29 27 48.2143 PDE4DIP 0 genome.wustl.edu 37 1 144917533 144917533 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 144917533 144917533 C T SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.1571 p.R524H 0.993 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 502 0 0 398 57 12.5275 PDZK1 0 genome.wustl.edu 37 1 145748554 145748554 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 145748554 145748554 G T SNP PDZK1 ENST00000344770 human ensembl 74_37 +1 known missense c.427 p.G143C 0.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZK1 HGNC ENSG00000174827 111 0 0 97 7 6.73077 CHD1L 0 genome.wustl.edu 37 1 146756152 146756152 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 146756152 146756152 T C SNP CHD1L ENST00000369258 human ensembl 74_37 +1 known missense c.1834 p.S612P 0.986 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Macro_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors CHD1L HGNC ENSG00000131778 167 0 0 115 39 25.3247 LINC00869 0 genome.wustl.edu 37 1 149284701 149284701 + RNA SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 149284701 149284701 T C SNP LINC00869 ENST00000424684 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-403I13.7 Clone_based_vega_gene ENSG00000226067 9 0 0 5 2 28.5714 HIST2H3PS2 0 genome.wustl.edu 37 1 149400148 149400148 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 149400148 149400148 C T SNP HIST2H3PS2 ENST00000392948 human ensembl 74_37 -1 putative missense c.395 p.R132H 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST2H3PS2 HGNC ENSG00000203818 89 0 0 42 10 19.2308 SF3B4 0 genome.wustl.edu 37 1 149898418 149898418 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 149898418 149898418 G A SNP SF3B4 ENST00000271628 human ensembl 74_37 -1 known missense c.556 p.R186C 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SF3B4 HGNC ENSG00000143368 84 0 0 54 24 30.7692 OTUD7B 0 genome.wustl.edu 37 1 149936124 149936124 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 149936124 149936124 C T SNP OTUD7B ENST00000479905 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors OTUD7B HGNC ENSG00000163113 63 0 0 54 16 22.8571 PRPF3 0 genome.wustl.edu 37 1 150305209 150305209 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 150305209 150305209 C A SNP PRPF3 ENST00000324862 human ensembl 74_37 +1 known missense c.478 p.L160M 1.000 NULL pfam_Pre-mRNA_splic_Prp3,pfam_DUF1115,pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom - no_errors PRPF3 HGNC ENSG00000117360 84 0 0 55 28 33.7349 TARS2 0 genome.wustl.edu 37 1 150476833 150476833 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 150476833 150476833 C T SNP TARS2 ENST00000369064 human ensembl 74_37 +1 known missense c.1640 p.A547V 1.000 pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS2 HGNC ENSG00000143374 36 0 0 19 5 20.8333 HORMAD1 0 genome.wustl.edu 37 1 150680815 150680815 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 150680815 150680815 C T SNP HORMAD1 ENST00000361824 human ensembl 74_37 -1 known missense c.464 p.R155H 1.000 pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd - no_errors HORMAD1 HGNC ENSG00000143452 80 0 0 60 13 17.8082 HORMAD1 0 genome.wustl.edu 37 1 150680846 150680846 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 150680846 150680846 C T SNP HORMAD1 ENST00000361824 human ensembl 74_37 -1 known missense c.433 p.D145N 0.976 pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd - no_errors HORMAD1 HGNC ENSG00000143452 78 0 0 59 17 22.3684 GABPB2 0 genome.wustl.edu 37 1 151076045 151076045 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 151076045 151076045 C T SNP GABPB2 ENST00000368918 human ensembl 74_37 +1 known silent c.630 p.P210 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors GABPB2 HGNC ENSG00000143458 97 0 0 55 10 15.3846 PI4KB 0 genome.wustl.edu 37 1 151276023 151276023 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 151276023 151276023 T C SNP PI4KB ENST00000271657 human ensembl 74_37 -1 known missense c.1550 p.D517G 1.000 superfamily_Kinase-like_dom pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KB HGNC ENSG00000143393 264 2 0.75188 196 60 23.4375 CGN 0 genome.wustl.edu 37 1 151496719 151496719 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 151496719 151496719 G A SNP CGN ENST00000271636 human ensembl 74_37 +1 known missense c.1286 p.R429H 0.991 NULL pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 33 0 0 17 16 48.4848 CELF3 0 genome.wustl.edu 37 1 151680282 151680282 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 151680282 151680282 C T SNP CELF3 ENST00000290583 human ensembl 74_37 -1 known missense c.616 p.A206T 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF3 HGNC ENSG00000159409 27 0 0 13 4 23.5294 TDRKH 0 genome.wustl.edu 37 1 151747603 151747603 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 151747603 151747603 C T SNP TDRKH ENST00000368822 human ensembl 74_37 -1 known missense c.1474 p.A492T 0.999 NULL pfam_KH_dom_type_1,pfam_Tudor,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1 - no_errors TDRKH HGNC ENSG00000182134 86 0 0 65 15 18.75 TCHH 0 genome.wustl.edu 37 1 152082230 152082230 + Silent SNP T T G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 152082230 152082230 T G SNP TCHH ENST00000368804 human ensembl 74_37 -1 known silent c.3463 p.R1155 0.469 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 62 0 0 52 18 25.7143 TCHH 0 genome.wustl.edu 37 1 152085491 152085491 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 152085491 152085491 G A SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.202 p.R68C 0.001 pfscan_EF_hand_dom pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 50 0 0 35 15 30 FLG2 0 genome.wustl.edu 37 1 152325581 152325581 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 152325581 152325581 T C SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.4681 p.T1561A 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 257 0 0 217 22 9.20502 KPRP 0 genome.wustl.edu 37 1 152733226 152733226 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 152733226 152733226 C A SNP KPRP ENST00000368773 human ensembl 74_37 +1 known missense c.1162 p.L388I 0.002 NULL NULL - no_errors KPRP HGNC ENSG00000203786 60 0 0 50 4 7.40741 LCE1F 0 genome.wustl.edu 37 1 152748933 152748933 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 152748933 152748933 G A SNP LCE1F ENST00000334371 human ensembl 74_37 +1 known missense c.86 p.C29Y 0.950 NULL NULL - no_errors LCE1F HGNC ENSG00000240386 63 0 0 61 7 10.2941 SPRR4 0 genome.wustl.edu 37 1 152944506 152944506 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 152944506 152944506 C A SNP SPRR4 ENST00000328051 human ensembl 74_37 +1 known missense c.140 p.A47D 0.997 pfam_Cornifin pfam_Cornifin - no_errors SPRR4 HGNC ENSG00000184148 158 0 0 146 14 8.75 NUP210L 0 genome.wustl.edu 37 1 154125256 154125256 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 154125256 154125256 G A SNP NUP210L ENST00000368559 human ensembl 74_37 -1 known missense c.296 p.T99M 1.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 83 0 0 68 7 9.33333 TPM3 0 genome.wustl.edu 37 1 154145414 154145414 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 154145414 154145414 C T SNP TPM3 ENST00000368530 human ensembl 74_37 -1 known missense c.536 p.R179H 1.000 pfam_Tropomyosin,prints_Tropomyosin pfam_Tropomyosin,prints_Tropomyosin - no_errors TPM3 HGNC ENSG00000143549 150 0 0 129 28 17.8344 TDRD10 0 genome.wustl.edu 37 1 154493838 154493838 + Silent SNP A A C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 154493838 154493838 A C SNP TDRD10 ENST00000368480 human ensembl 74_37 +1 known silent c.252 p.T84 0.003 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TDRD10 HGNC ENSG00000163239 208 0 0 132 45 25.4237 TDRD10 0 genome.wustl.edu 37 1 154514474 154514474 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 154514474 154514474 G A SNP TDRD10 ENST00000462871 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TDRD10 HGNC ENSG00000163239 37 0 0 18 5 21.7391 UBE2Q1 0 genome.wustl.edu 37 1 154523896 154523896 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 154523896 154523896 G A SNP UBE2Q1 ENST00000292211 human ensembl 74_37 -1 known nonsense c.1147 p.R383* 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2Q1 HGNC ENSG00000160714 114 0 0 81 33 28.9474 ADAR 0 genome.wustl.edu 37 1 154574691 154574691 + Missense_Mutation SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 154574691 154574691 T A SNP ADAR ENST00000292205 human ensembl 74_37 -1 known missense c.556 p.I186F 0.000 pfam_dsRNA_A_deaminase,smart_dsRNA_A_deaminase,pfscan_dsRNA_A_deaminase pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_dsRNA-bd_dom,smart_dsRNA_A_deaminase,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_dsRNA_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC ENSG00000160710 97 0 0 67 20 22.9885 KCNN3 0 genome.wustl.edu 37 1 154698441 154698441 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 154698441 154698441 G A SNP KCNN3 ENST00000271915 human ensembl 74_37 -1 novel missense c.1652 p.A551V 1.000 superfamily_CaM-bd_dom pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 29 0 0 20 7 25.9259 PBXIP1 0 genome.wustl.edu 37 1 154919108 154919108 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 154919108 154919108 C T SNP PBXIP1 ENST00000542459 human ensembl 74_37 -1 known missense c.577 p.G193S 0.635 NULL NULL - no_errors PBXIP1 HGNC ENSG00000163346 27 0 0 25 9 26.4706 SHC1 0 genome.wustl.edu 37 1 154938054 154938054 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 154938054 154938054 G A SNP SHC1 ENST00000368445 human ensembl 74_37 -1 known missense c.1588 p.P530S 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC1 HGNC ENSG00000160691 91 0 0 75 8 9.63855 DCST2 0 genome.wustl.edu 37 1 154999075 154999075 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 154999075 154999075 G A SNP DCST2 ENST00000368424 human ensembl 74_37 -1 known missense c.1459 p.R487C 0.823 pfam_DC_STAMP-like pfam_DC_STAMP-like - no_errors DCST2 HGNC ENSG00000163354 132 0 0 123 9 6.81818 DCST1 0 genome.wustl.edu 37 1 155014205 155014205 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 155014205 155014205 C T SNP DCST1 ENST00000295542 human ensembl 74_37 +1 known missense c.764 p.A255V 0.227 NULL pfam_DC_STAMP-like,pfscan_Znf_RING - no_errors DCST1 HGNC ENSG00000163357 140 0 0 83 30 26.5487 TRIM46 0 genome.wustl.edu 37 1 155147746 155147746 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 155147746 155147746 C T SNP TRIM46 ENST00000468878 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TRIM46 HGNC ENSG00000163462 69 0 0 38 3 7.31707 CLK2 0 genome.wustl.edu 37 1 155236574 155236574 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 155236574 155236574 A G SNP CLK2 ENST00000368361 human ensembl 74_37 -1 known missense c.784 p.Y262H 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 CLK2 HGNC ENSG00000176444 53 0 0 33 3 8.33333 ASH1L 0 genome.wustl.edu 37 1 155317653 155317653 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 155317653 155317653 G A SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.7612 p.R2538C 1.000 superfamily_Bromodomain,smart_Bromodomain 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 112 0 0 107 6 5.30973 LMNA 0 genome.wustl.edu 37 1 156105054 156105054 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 156105054 156105054 G A SNP LMNA ENST00000368300 human ensembl 74_37 +1 known missense c.887 p.R296H 1.000 pfam_IF pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin - no_errors LMNA HGNC ENSG00000160789 24 0 0 17 8 32 LMNA 0 genome.wustl.edu 37 1 156106043 156106043 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 156106043 156106043 G A SNP LMNA ENST00000368300 human ensembl 74_37 +1 known missense c.1196 p.R399H 0.275 NULL pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin - no_errors LMNA HGNC ENSG00000160789 37 0 0 15 11 42.3077 TMEM79 0 genome.wustl.edu 37 1 156255748 156255748 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 156255748 156255748 T C SNP TMEM79 ENST00000295694 human ensembl 74_37 +1 known missense c.731 p.V244A 1.000 NULL NULL - no_errors TMEM79 HGNC ENSG00000163472 175 0 0 116 7 5.69106 TMEM79 0 genome.wustl.edu 37 1 156256097 156256097 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 156256097 156256097 G A SNP TMEM79 ENST00000357501 human ensembl 74_37 +1 known missense c.88 p.A30T 0.977 NULL NULL - no_errors TMEM79 HGNC ENSG00000163472 83 0 0 68 4 5.55556 INSRR 0 genome.wustl.edu 37 1 156812271 156812271 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 156812271 156812271 G A SNP INSRR ENST00000368195 human ensembl 74_37 -1 known silent c.3156 p.G1052 0.936 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSRR HGNC ENSG00000027644 85 0 0 86 7 7.52688 CD1D 0 genome.wustl.edu 37 1 158151348 158151348 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 158151348 158151348 G A SNP CD1D ENST00000368171 human ensembl 74_37 +1 known silent c.165 p.T55 0.338 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1D HGNC ENSG00000158473 98 0 0 78 6 7.14286 CD1B 0 genome.wustl.edu 37 1 158298045 158298045 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 158298045 158298045 G A SNP CD1B ENST00000368168 human ensembl 74_37 -1 known missense c.983 p.S328L 0.062 NULL pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1B HGNC ENSG00000158485 55 0 0 31 20 39.2157 CD1B 0 genome.wustl.edu 37 1 158298046 158298046 + Missense_Mutation SNP A A T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 158298046 158298046 A T SNP CD1B ENST00000368168 human ensembl 74_37 -1 known missense c.982 p.S328T 0.064 NULL pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1B HGNC ENSG00000158485 53 0 0 31 21 40.3846 OR6K2 0 genome.wustl.edu 37 1 158669993 158669993 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 158669993 158669993 A G SNP OR6K2 ENST00000359610 human ensembl 74_37 -1 known silent c.450 p.C150 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K2 HGNC ENSG00000196171 112 0 0 86 5 5.49451 OR6K6 0 genome.wustl.edu 37 1 158724726 158724726 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 158724726 158724726 C A SNP OR6K6 ENST00000368144 human ensembl 74_37 +1 known missense c.121 p.L41I 0.684 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K6 HGNC ENSG00000180433 154 0 0 127 12 8.63309 OR6K6 0 genome.wustl.edu 37 1 158725144 158725144 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 158725144 158725144 G A SNP OR6K6 ENST00000368144 human ensembl 74_37 +1 known missense c.539 p.G180D 0.977 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K6 HGNC ENSG00000180433 81 0 0 95 6 5.94059 OR6K6 0 genome.wustl.edu 37 1 158725344 158725344 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 158725344 158725344 C T SNP OR6K6 ENST00000368144 human ensembl 74_37 +1 known missense c.739 p.R247W 0.062 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K6 HGNC ENSG00000180433 84 0 0 67 15 18.2927 OR6N1 0 genome.wustl.edu 37 1 158735692 158735692 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 158735692 158735692 G A SNP OR6N1 ENST00000335094 human ensembl 74_37 -1 known nonsense c.781 p.Q261* 0.078 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6N1 HGNC ENSG00000197403 256 0 0 174 20 10.3093 MNDA 0 genome.wustl.edu 37 1 158813117 158813117 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 158813117 158813117 A G SNP MNDA ENST00000368141 human ensembl 74_37 +1 known missense c.314 p.N105S 0.000 NULL pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors MNDA HGNC ENSG00000163563 53 0 0 29 8 21.6216 OR10J1 0 genome.wustl.edu 37 1 159409955 159409955 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 159409955 159409955 C T SNP OR10J1 ENST00000423932 human ensembl 74_37 +1 known missense c.407 p.A136V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J1 HGNC ENSG00000196184 127 0 0 96 7 6.79612 CCDC19 0 genome.wustl.edu 37 1 159850438 159850438 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 159850438 159850438 C T SNP CCDC19 ENST00000368099 human ensembl 74_37 -1 known missense c.950 p.R317H 0.998 NULL NULL - no_errors CCDC19 HGNC ENSG00000213085 70 0 0 82 23 21.9048 IGSF9 0 genome.wustl.edu 37 1 159907504 159907504 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 159907504 159907504 G A SNP IGSF9 ENST00000368094 human ensembl 74_37 -1 known silent c.372 p.N124 0.998 smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9 HGNC ENSG00000085552 99 0 0 63 14 18.1818 KCNJ10 0 genome.wustl.edu 37 1 160011659 160011659 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 160011659 160011659 G T SNP KCNJ10 ENST00000368089 human ensembl 74_37 -1 known missense c.664 p.Q222K 0.841 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.2,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ10 HGNC ENSG00000177807 69 0 0 37 23 38.3333 KCNJ10 0 genome.wustl.edu 37 1 160011933 160011933 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 160011933 160011933 G A SNP KCNJ10 ENST00000368089 human ensembl 74_37 -1 known silent c.390 p.G130 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.2,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ10 HGNC ENSG00000177807 73 0 0 53 20 27.3973 KCNJ9 0 genome.wustl.edu 37 1 160053993 160053993 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 160053993 160053993 G A SNP KCNJ9 ENST00000368088 human ensembl 74_37 +1 known missense c.173 p.R58H 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.3 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_Kir3.3 - no_errors KCNJ9 HGNC ENSG00000162728 26 0 0 12 4 25 IGSF8 0 genome.wustl.edu 37 1 160062178 160062178 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 160062178 160062178 G A SNP IGSF8 ENST00000314485 human ensembl 74_37 -1 known silent c.1620 p.G540 0.802 smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors IGSF8 HGNC ENSG00000162729 40 0 0 27 6 18.1818 ATP1A4 0 genome.wustl.edu 37 1 160151577 160151577 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 160151577 160151577 G A SNP ATP1A4 ENST00000368081 human ensembl 74_37 +1 known missense c.2840 p.R947H 0.986 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A4 HGNC ENSG00000132681 105 0 0 74 23 23.7113 COPA 0 genome.wustl.edu 37 1 160261166 160261166 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 160261166 160261166 G A SNP COPA ENST00000368069 human ensembl 74_37 -1 known missense c.3406 p.R1136C 1.000 pfam_Coatomer_asu_C,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC ENSG00000122218 81 0 0 61 21 25.6098 ARHGAP30 0 genome.wustl.edu 37 1 161022260 161022260 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 161022260 161022260 G A SNP ARHGAP30 ENST00000368013 human ensembl 74_37 -1 known missense c.910 p.R304C 0.968 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 298 0 0 167 72 30.1255 ARHGAP30 0 genome.wustl.edu 37 1 161039355 161039355 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 161039355 161039355 G A SNP ARHGAP30 ENST00000368013 human ensembl 74_37 -1 known silent c.60 p.C20 0.998 superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 79 0 0 43 13 23.2143 USP21 0 genome.wustl.edu 37 1 161130563 161130563 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 161130563 161130563 C T SNP USP21 ENST00000289865 human ensembl 74_37 +1 known missense c.133 p.P45S 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP21 HGNC ENSG00000143258 47 0 0 42 15 26.3158 NDUFS2 0 genome.wustl.edu 37 1 161180180 161180180 + Splice_Site SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 161180180 161180180 G T SNP NDUFS2 ENST00000367993 human ensembl 74_37 +1 known splice_site c.866+1 e8+1 1.000 - - - no_errors NDUFS2 HGNC ENSG00000158864 129 0 0 101 9 8.18182 MPZ 0 genome.wustl.edu 37 1 161277190 161277190 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 161277190 161277190 A G SNP MPZ ENST00000360451 human ensembl 74_37 -1 known missense c.122 p.V41A 1.000 pfam_Ig_V-set,pfscan_Ig-like_dom pfam_Myelin-PO_C,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Myelin_P0 - no_errors MPZ HGNC ENSG00000158887 36 0 0 21 9 30 HSPA6 0 genome.wustl.edu 37 1 161495324 161495324 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 161495324 161495324 C T SNP HSPA6 ENST00000309758 human ensembl 74_37 +1 known silent c.876 p.G292 0.987 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA6 HGNC ENSG00000173110 38 0 0 19 8 29.6296 FCGR3A 0 genome.wustl.edu 37 1 161514508 161514508 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 161514508 161514508 T C SNP FCGR3A ENST00000367969 human ensembl 74_37 -1 known missense c.668 p.N223S 0.000 smart_Ig_sub,pfscan_Ig-like_dom smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCGR3A HGNC ENSG00000203747 31 0 0 27 3 10 FCGR3B 0 genome.wustl.edu 37 1 161599810 161599810 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 161599810 161599810 G A SNP FCGR3B ENST00000294800 human ensembl 74_37 -1 known missense c.77 p.A26V 0.973 pfscan_Ig-like_dom smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCGR3B HGNC ENSG00000162747 56 0 0 37 16 30.1887 OLFML2B 0 genome.wustl.edu 37 1 161967927 161967927 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 161967927 161967927 G A SNP OLFML2B ENST00000294794 human ensembl 74_37 -1 known missense c.1162 p.H388Y 0.002 NULL pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 119 0 0 73 29 28.4314 UHMK1 0 genome.wustl.edu 37 1 162473601 162473601 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 162473601 162473601 G A SNP UHMK1 ENST00000489294 human ensembl 74_37 +1 known missense c.811 p.A271T 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RRM_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Prot_kinase_dom - no_errors UHMK1 HGNC ENSG00000152332 38 0 0 33 15 31.25 SPEN 0 genome.wustl.edu 37 1 16257770 16257770 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 16257770 16257770 G A SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.5035 p.V1679I 0.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 202 0 0 127 51 28.6517 ZBTB17 0 genome.wustl.edu 37 1 16272720 16272720 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 16272720 16272720 C T SNP ZBTB17 ENST00000375733 human ensembl 74_37 -1 known missense c.464 p.R155H 0.009 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ENSG00000116809 117 0 0 62 23 27.0588 HSD17B7 0 genome.wustl.edu 37 1 162773301 162773301 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 162773301 162773301 G A SNP HSD17B7 ENST00000254521 human ensembl 74_37 +1 known silent c.723 p.T241 0.021 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors HSD17B7 HGNC ENSG00000132196 68 0 0 52 12 18.75 PBX1 0 genome.wustl.edu 37 1 164769123 164769123 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 164769123 164769123 C T SNP PBX1 ENST00000420696 human ensembl 74_37 +1 known missense c.698 p.A233V 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PBX1 HGNC ENSG00000185630 33 0 0 18 4 18.1818 LMX1A 0 genome.wustl.edu 37 1 165322399 165322399 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 165322399 165322399 G A SNP LMX1A ENST00000294816 human ensembl 74_37 -1 known silent c.177 p.C59 0.996 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LMX1A HGNC ENSG00000162761 33 0 0 26 11 29.7297 DUSP27 0 genome.wustl.edu 37 1 167096298 167096298 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 167096298 167096298 G A SNP DUSP27 ENST00000271385 human ensembl 74_37 +1 known missense c.1930 p.A644T 0.992 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC ENSG00000198842 23 0 0 13 3 18.75 CD247 0 genome.wustl.edu 37 1 167400950 167400950 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 167400950 167400950 C T SNP CD247 ENST00000362089 human ensembl 74_37 -1 known missense c.463 p.A155T 0.994 pfam_Phos_immunorcpt_sig_ITAM,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM pfam_Phos_immunorcpt_sig_ITAM,pfam_CR3_zeta/IgE_Fc_rcpt_gamma,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM - no_errors CD247 HGNC ENSG00000198821 78 0 0 54 21 28 GPR161 0 genome.wustl.edu 37 1 168065850 168065850 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 168065850 168065850 C T SNP GPR161 ENST00000537209 human ensembl 74_37 -1 known missense c.1055 p.R352H 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR161 HGNC ENSG00000143147 75 0 0 52 7 11.8644 NADK 0 genome.wustl.edu 37 1 1693452 1693452 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 1693452 1693452 G A SNP NADK ENST00000344463 human ensembl 74_37 -1 known missense c.202 p.P68S 1.000 NULL pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ - no_errors NADK HGNC ENSG00000008130 50 0 0 28 4 12.5 CROCCP2 0 genome.wustl.edu 37 1 16952904 16952904 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 16952904 16952904 C T SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors CROCCP2 HGNC ENSG00000215908 133 0 0 93 6 6.06061 SELL 0 genome.wustl.edu 37 1 169672454 169672454 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 169672454 169672454 C A SNP SELL ENST00000236147 human ensembl 74_37 -1 known missense c.933 p.K311N 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pirsf_L-selectin,pfscan_Sushi_SCR_CCP pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pirsf_L-selectin,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELL HGNC ENSG00000188404 57 0 0 56 4 6.66667 SELE 0 genome.wustl.edu 37 1 169697058 169697058 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 169697058 169697058 G A SNP SELE ENST00000333360 human ensembl 74_37 -1 known silent c.1290 p.C430 0.753 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_C-type_lectin,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELE HGNC ENSG00000007908 68 0 0 72 7 8.86076 MST1L 0 genome.wustl.edu 37 1 17084078 17084078 + RNA SNP G G C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 17084078 17084078 G C SNP MST1L ENST00000455405 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MST1L HGNC ENSG00000186715 261 0 0 195 17 8.01887 MROH9 0 genome.wustl.edu 37 1 170964609 170964609 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 170964609 170964609 C T SNP MROH9 ENST00000367759 human ensembl 74_37 +1 known missense c.1274 p.T425M 0.845 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH9 HGNC ENSG00000117501 78 0 0 48 17 26.1538 FMO2 0 genome.wustl.edu 37 1 171178010 171178010 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 171178010 171178010 C T SNP FMO2 ENST00000209929 human ensembl 74_37 +1 known missense c.1334 p.A445V 0.244 pfam_Flavin_mOase-like,prints_Flavin_mOase_2 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5 - no_errors FMO2 HGNC ENSG00000094963 242 0 0 222 25 10.1215 FMO1 0 genome.wustl.edu 37 1 171252297 171252297 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 171252297 171252297 C T SNP FMO1 ENST00000354841 human ensembl 74_37 +1 known missense c.1198 p.P400S 0.998 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase_1 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_1,prints_Flavin_mOase_2 - no_errors FMO1 HGNC ENSG00000010932 170 0 0 165 12 6.77966 PRRC2C 0 genome.wustl.edu 37 1 171509407 171509407 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 171509407 171509407 G A SNP PRRC2C ENST00000392078 human ensembl 74_37 +1 known silent c.2802 p.T934 0.989 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 92 0 0 73 5 6.41026 ENSG00000230239 0 genome.wustl.edu 37 1 17183245 17183245 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 17183245 17183245 G A SNP ENSG00000230239 ENST00000414128 human ensembl 74_37 +1 known rna NULL NULL 0.928 - - - no_errors RP11-108M9.2 Clone_based_vega_gene ENSG00000230239 43 0 0 21 5 19.2308 LOC101927806 0 genome.wustl.edu 37 1 17197929 17197929 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 17197929 17197929 G A SNP LOC101927806 ENST00000438002 human ensembl 74_37 +1 known rna NULL NULL 0.838 - - - no_errors U1 RFAM ENSG00000228549 20 0 0 12 4 25 TNFSF18 0 genome.wustl.edu 37 1 173019955 173019955 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 173019955 173019955 G A SNP TNFSF18 ENST00000404377 human ensembl 74_37 -1 known missense c.148 p.L50F 0.009 NULL pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom - no_errors TNFSF18 HGNC ENSG00000120337 53 0 0 42 16 27.5862 ATP13A2 0 genome.wustl.edu 37 1 17314944 17314944 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 17314944 17314944 C T SNP ATP13A2 ENST00000326735 human ensembl 74_37 -1 known missense c.2635 p.G879S 1.000 superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,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,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A2 HGNC ENSG00000159363 100 0 0 56 18 24.3243 PADI2 0 genome.wustl.edu 37 1 17413176 17413176 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 17413176 17413176 C T SNP PADI2 ENST00000375486 human ensembl 74_37 -1 known missense c.674 p.R225H 1.000 pfam_Prot_Arg_deaminase_cen_dom,superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI2 HGNC ENSG00000117115 80 0 0 63 7 10 GPR52 0 genome.wustl.edu 37 1 174417499 174417499 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 174417499 174417499 G A SNP GPR52 ENST00000367685 human ensembl 74_37 +1 known missense c.250 p.A84T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR52 HGNC ENSG00000203737 221 0 0 157 44 21.8905 MRPS14 0 genome.wustl.edu 37 1 174987651 174987651 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 174987651 174987651 C T SNP MRPS14 ENST00000476371 human ensembl 74_37 -1 known missense c.107 p.R36H 1.000 NULL pfam_Ribosomal_S14 - no_errors MRPS14 HGNC ENSG00000120333 130 0 0 81 15 15.625 TNN 0 genome.wustl.edu 37 1 175046767 175046767 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 175046767 175046767 G A SNP TNN ENST00000239462 human ensembl 74_37 +1 known silent c.213 p.S71 0.000 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 44 0 0 19 4 17.3913 PADI3 0 genome.wustl.edu 37 1 17596768 17596768 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 17596768 17596768 C T SNP PADI3 ENST00000375460 human ensembl 74_37 +1 known silent c.693 p.G231 0.395 pfam_Prot_Arg_deaminase_cen_dom,superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI3 HGNC ENSG00000142619 148 0 0 122 7 5.42636 PAPPA2 0 genome.wustl.edu 37 1 176564697 176564697 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 176564697 176564697 C T SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.1957 p.R653C 0.022 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 46 0 0 32 3 8.57143 ASTN1 0 genome.wustl.edu 37 1 176833575 176833575 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 176833575 176833575 G A SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known missense c.3754 p.R1252W 1.000 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 66 0 0 42 19 31.1475 RCC2 0 genome.wustl.edu 37 1 17743117 17743117 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 17743117 17743117 G A SNP RCC2 ENST00000375433 human ensembl 74_37 -1 known silent c.885 p.I295 0.106 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,prints_Reg_chr_condens,pfscan_Reg_chr_condens - no_errors RCC2 HGNC ENSG00000179051 71 0 0 55 5 8.33333 RALGPS2 0 genome.wustl.edu 37 1 178855202 178855202 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 178855202 178855202 C T SNP RALGPS2 ENST00000367635 human ensembl 74_37 +1 known missense c.1139 p.A380V 0.990 NULL pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS2 HGNC ENSG00000116191 116 0 0 64 28 30.4348 ABL2 0 genome.wustl.edu 37 1 179078138 179078138 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 179078138 179078138 C T SNP ABL2 ENST00000502732 human ensembl 74_37 -1 known missense c.2264 p.R755H 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac-type,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL2 HGNC ENSG00000143322 61 0 0 66 17 20.4819 ABL2 0 genome.wustl.edu 37 1 179112110 179112110 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 179112110 179112110 G T SNP ABL2 ENST00000512653 human ensembl 74_37 -1 known missense c.70 p.L24M 0.981 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac-type,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL2 HGNC ENSG00000143322 65 0 0 74 5 6.32911 AXDND1 0 genome.wustl.edu 37 1 179414261 179414261 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 179414261 179414261 C T SNP AXDND1 ENST00000367618 human ensembl 74_37 +1 known nonsense c.1720 p.R574* 0.941 NULL pfam_Axonemal_dynein_light_chain - no_errors AXDND1 HGNC ENSG00000162779 103 0 0 76 7 8.43373 TDRD5 0 genome.wustl.edu 37 1 179620046 179620046 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 179620046 179620046 C T SNP TDRD5 ENST00000444136 human ensembl 74_37 +1 known silent c.1845 p.C615 1.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD5 HGNC ENSG00000162782 120 0 0 90 26 22.4138 CEP350 0 genome.wustl.edu 37 1 180010286 180010286 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 180010286 180010286 G A SNP CEP350 ENST00000367607 human ensembl 74_37 +1 known missense c.4124 p.R1375H 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 40 0 0 30 11 26.8293 XPR1 0 genome.wustl.edu 37 1 180780557 180780557 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 180780557 180780557 G T SNP XPR1 ENST00000367590 human ensembl 74_37 +1 known missense c.696 p.W232C 1.000 NULL pfam_EXS_C,pfam_SPX_N - no_errors XPR1 HGNC ENSG00000143324 58 0 0 28 14 33.3333 XPR1 0 genome.wustl.edu 37 1 180849411 180849411 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 180849411 180849411 C T SNP XPR1 ENST00000367590 human ensembl 74_37 +1 known missense c.2008 p.R670C 1.000 NULL pfam_EXS_C,pfam_SPX_N - no_errors XPR1 HGNC ENSG00000143324 85 0 0 62 19 23.4568 STX6 0 genome.wustl.edu 37 1 180974435 180974435 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 180974435 180974435 G A SNP STX6 ENST00000258301 human ensembl 74_37 -1 known missense c.200 p.T67I 1.000 pfam_Syntaxin-6_N,superfamily_t-SNARE pfam_Syntaxin-6_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX6 HGNC ENSG00000135823 148 0 0 128 10 7.24638 CACNA1E 0 genome.wustl.edu 37 1 181706782 181706782 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 181706782 181706782 C T SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.3544 p.R1182C 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 78 0 0 61 13 17.5676 CACNA1E 0 genome.wustl.edu 37 1 181732597 181732597 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 181732597 181732597 G A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.4745 p.R1582H 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 61 0 0 41 17 29.3103 RNASEL 0 genome.wustl.edu 37 1 182550411 182550411 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 182550411 182550411 C T SNP RNASEL ENST00000367559 human ensembl 74_37 -1 known silent c.1854 p.L618 0.003 pfam_KEN_dom pfam_Ankyrin_rpt,pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_PUG-dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors RNASEL HGNC ENSG00000135828 215 0 0 129 44 25.4335 SHCBP1L 0 genome.wustl.edu 37 1 182872293 182872293 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 182872293 182872293 C T SNP SHCBP1L ENST00000367547 human ensembl 74_37 -1 known missense c.1591 p.A531T 1.000 superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 - no_errors SHCBP1L HGNC ENSG00000157060 132 0 0 88 29 24.7863 LAMC1 0 genome.wustl.edu 37 1 183105532 183105532 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 183105532 183105532 C T SNP LAMC1 ENST00000258341 human ensembl 74_37 +1 known missense c.4126 p.R1376C 0.999 NULL pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 64 0 0 30 9 23.0769 EDEM3 0 genome.wustl.edu 37 1 184671996 184671996 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 184671996 184671996 G A SNP EDEM3 ENST00000318130 human ensembl 74_37 -1 known missense c.2338 p.R780W 1.000 NULL pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM3 HGNC ENSG00000116406 75 0 0 51 15 22.7273 EDEM3 0 genome.wustl.edu 37 1 184692925 184692925 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 184692925 184692925 G A SNP EDEM3 ENST00000318130 human ensembl 74_37 -1 known silent c.813 p.G271 0.287 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM3 HGNC ENSG00000116406 124 0 0 90 34 27.4194 FAM129A 0 genome.wustl.edu 37 1 184764913 184764913 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 184764913 184764913 T C SNP FAM129A ENST00000367511 human ensembl 74_37 -1 known missense c.1985 p.D662G 0.002 NULL NULL - no_errors FAM129A HGNC ENSG00000135842 52 0 0 40 12 23.0769 FAM129A 0 genome.wustl.edu 37 1 184777283 184777283 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 184777283 184777283 C T SNP FAM129A ENST00000367511 human ensembl 74_37 -1 known silent c.1260 p.L420 0.999 NULL NULL - no_errors FAM129A HGNC ENSG00000135842 122 0 0 91 32 26.0163 TRMT1L 0 genome.wustl.edu 37 1 185112528 185112528 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 185112528 185112528 G A SNP TRMT1L ENST00000367506 human ensembl 74_37 -1 known nonsense c.820 p.R274* 1.000 pfam_TRM1,pfam_tRNA_Trfase_Trm5/Tyw2 pfam_TRM1,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors TRMT1L HGNC ENSG00000121486 87 0 0 79 9 10.2273 HMCN1 0 genome.wustl.edu 37 1 185985117 185985117 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 185985117 185985117 C T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.4937 p.A1646V 0.431 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 92 0 0 62 15 19.4805 HMCN1 0 genome.wustl.edu 37 1 186092202 186092202 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 186092202 186092202 C T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.12349 p.R4117C 0.843 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 62 0 0 50 15 23.0769 HMCN1 0 genome.wustl.edu 37 1 186147696 186147696 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 186147696 186147696 C T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.16092 p.G5364 0.483 superfamily_Growth_fac_rcpt_N_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 267 1 0.373134 208 27 11.4894 HMCN1 0 genome.wustl.edu 37 1 186147722 186147722 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 186147722 186147722 C T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.16118 p.A5373V 0.782 superfamily_Growth_fac_rcpt_N_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 292 0 0 192 51 20.9877 HMCN1 0 genome.wustl.edu 37 1 186158685 186158685 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 186158685 186158685 C T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.16583 p.A5528V 1.000 NULL 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 93 0 0 70 4 5.40541 HMCN1 0 genome.wustl.edu 37 1 186158913 186158913 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 186158913 186158913 G A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.16811 p.R5604H 1.000 superfamily_Cadherin-like 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 86 0 0 53 12 18.4615 TPR 0 genome.wustl.edu 37 1 186312540 186312540 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 186312540 186312540 C T SNP TPR ENST00000367478 human ensembl 74_37 -1 known missense c.3668 p.R1223H 1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 129 0 0 114 8 6.55738 TPR 0 genome.wustl.edu 37 1 186313197 186313197 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 186313197 186313197 C T SNP TPR ENST00000367478 human ensembl 74_37 -1 known missense c.3443 p.R1148H 1.000 pfam_TPR_MLP1_2 pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 44 0 0 32 12 27.2727 PTGS2 0 genome.wustl.edu 37 1 186647441 186647441 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 186647441 186647441 C A SNP PTGS2 ENST00000367468 human ensembl 74_37 -1 known missense c.409 p.A137S 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors PTGS2 HGNC ENSG00000073756 79 0 0 68 8 10.5263 KLHDC7A 0 genome.wustl.edu 37 1 18808238 18808238 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 18808238 18808238 G A SNP KLHDC7A ENST00000400664 human ensembl 74_37 +1 known missense c.763 p.A255T 0.011 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7A HGNC ENSG00000179023 75 0 0 38 22 36.6667 KLHDC7A 0 genome.wustl.edu 37 1 18808833 18808833 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 18808833 18808833 C T SNP KLHDC7A ENST00000400664 human ensembl 74_37 +1 known missense c.1358 p.A453V 1.000 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7A HGNC ENSG00000179023 55 0 0 34 19 35.8491 BRINP3 0 genome.wustl.edu 37 1 190067862 190067862 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 190067862 190067862 C T SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known nonsense c.1587 p.W529* 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 103 0 0 125 7 5.30303 ALDH4A1 0 genome.wustl.edu 37 1 19199402 19199402 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 19199402 19199402 C T SNP ALDH4A1 ENST00000290597 human ensembl 74_37 -1 known silent c.1629 p.S543 0.290 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH - no_errors ALDH4A1 HGNC ENSG00000159423 91 0 0 55 6 9.83607 B3GALT2 0 genome.wustl.edu 37 1 193149563 193149563 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 193149563 193149563 C T SNP B3GALT2 ENST00000367434 human ensembl 74_37 -1 known missense c.1130 p.S377N 1.000 NULL pfam_Glyco_trans_31 - no_errors B3GALT2 HGNC ENSG00000162630 89 0 0 87 9 9.375 B3GALT2 0 genome.wustl.edu 37 1 193149774 193149774 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 193149774 193149774 G A SNP B3GALT2 ENST00000367434 human ensembl 74_37 -1 known missense c.919 p.R307C 0.991 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GALT2 HGNC ENSG00000162630 69 0 0 59 10 14.4928 UBR4 0 genome.wustl.edu 37 1 19468163 19468163 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 19468163 19468163 T C SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.8288 p.D2763G 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 108 0 0 84 17 16.8317 UBR4 0 genome.wustl.edu 37 1 19478277 19478277 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 19478277 19478277 G A SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.7073 p.T2358I 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 74 0 0 47 22 31.8841 UBR4 0 genome.wustl.edu 37 1 19524463 19524463 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 19524463 19524463 G A SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known silent c.729 p.N243 0.977 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 173 0 0 131 24 15.4839 EMC1 0 genome.wustl.edu 37 1 19566419 19566419 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 19566419 19566419 G A SNP EMC1 ENST00000477853 human ensembl 74_37 -1 known missense c.847 p.P283S 0.997 NULL pfam_DUF1620,superfamily_Quinonprotein_ADH-like_supfam - no_errors EMC1 HGNC ENSG00000127463 30 0 0 29 3 9.375 CFHR1 0 genome.wustl.edu 37 1 196801062 196801062 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 196801062 196801062 G A SNP CFHR1 ENST00000320493 human ensembl 74_37 +1 known missense c.926 p.R309H 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR1 HGNC ENSG00000244414 90 0 0 60 6 9.09091 CRB1 0 genome.wustl.edu 37 1 197390881 197390881 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 197390881 197390881 C A SNP CRB1 ENST00000543483 human ensembl 74_37 +1 known missense c.812 p.A271D 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 171 0 0 138 13 8.60927 DENND1B 0 genome.wustl.edu 37 1 197704823 197704823 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 197704823 197704823 C T SNP DENND1B ENST00000477581 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DENND1B HGNC ENSG00000213047 27 0 0 36 8 18.1818 LHX9 0 genome.wustl.edu 37 1 197889133 197889133 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 197889133 197889133 C T SNP LHX9 ENST00000367387 human ensembl 74_37 +1 known missense c.206 p.A69V 1.000 pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX9 HGNC ENSG00000143355 109 0 0 59 32 35.1648 PTPRC 0 genome.wustl.edu 37 1 198685904 198685904 + Missense_Mutation SNP A A C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 198685904 198685904 A C SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known missense c.1385 p.Y462S 0.000 pirsf_Leukocyte_common_ag,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 66 0 0 48 5 9.43396 PTPRC 0 genome.wustl.edu 37 1 198687371 198687371 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 198687371 198687371 G A SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known silent c.1599 p.S533 0.000 pirsf_Leukocyte_common_ag,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 47 0 0 27 16 37.2093 KIF21B 0 genome.wustl.edu 37 1 200944027 200944027 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 200944027 200944027 C T SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known silent c.4629 p.A1543 0.027 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom 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 54 0 0 35 13 27.0833 CACNA1S 0 genome.wustl.edu 37 1 201022696 201022696 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 201022696 201022696 C T SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known missense c.3686 p.R1229H 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 38 0 0 32 9 21.9512 PKP1 0 genome.wustl.edu 37 1 201252935 201252935 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 201252935 201252935 G A SNP PKP1 ENST00000263946 human ensembl 74_37 +1 known silent c.105 p.T35 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP1 HGNC ENSG00000081277 42 0 0 36 11 23.4043 NAV1 0 genome.wustl.edu 37 1 201763655 201763655 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 201763655 201763655 C T SNP NAV1 ENST00000367296 human ensembl 74_37 +1 known missense c.3467 p.A1156V 1.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 104 0 0 103 6 5.50459 RNPEP 0 genome.wustl.edu 37 1 201972515 201972515 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 201972515 201972515 C T SNP RNPEP ENST00000295640 human ensembl 74_37 +1 known missense c.1577 p.A526V 0.000 pfam_Peptidase_M1_C,superfamily_ARM-type_fold pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEP HGNC ENSG00000176393 44 0 0 32 3 8.57143 LGR6 0 genome.wustl.edu 37 1 202270002 202270002 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 202270002 202270002 G A SNP LGR6 ENST00000367278 human ensembl 74_37 +1 known missense c.811 p.A271T 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn - no_errors LGR6 HGNC ENSG00000133067 207 0 0 161 60 27.1493 PPP1R12B 0 genome.wustl.edu 37 1 202418206 202418206 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 202418206 202418206 G A SNP PPP1R12B ENST00000336894 human ensembl 74_37 +1 known missense c.1757 p.R586H 0.954 pirsf_Pase-1_reg_su_12A/B/C_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12B HGNC ENSG00000077157 80 0 0 62 5 7.46269 SYT2 0 genome.wustl.edu 37 1 202573729 202573729 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 202573729 202573729 C T SNP SYT2 ENST00000367267 human ensembl 74_37 -1 known missense c.199 p.A67T 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT2 HGNC ENSG00000143858 46 0 0 19 7 26.9231 KDM5B 0 genome.wustl.edu 37 1 202704712 202704712 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 202704712 202704712 G A SNP KDM5B ENST00000367264 human ensembl 74_37 -1 known silent c.3376 p.L1126 0.977 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC ENSG00000117139 100 0 0 65 31 32.2917 KDM5B 0 genome.wustl.edu 37 1 202746175 202746175 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 202746175 202746175 C T SNP KDM5B ENST00000367264 human ensembl 74_37 -1 known silent c.252 p.T84 0.305 superfamily_ARID/BRIGHT_DNA-bd pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC ENSG00000117139 176 1 0.564972 107 26 19.5489 LOC148709 0 genome.wustl.edu 37 1 202842641 202842641 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 202842641 202842641 G A SNP LOC148709 ENST00000456105 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-480I12.7 Clone_based_vega_gene ENSG00000234996 59 0 0 54 5 8.47458 KLHL12 0 genome.wustl.edu 37 1 202863757 202863757 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 202863757 202863757 G A SNP KLHL12 ENST00000435533 human ensembl 74_37 -1 known missense c.1370 p.A457V 1.000 pfam_Kelch_1,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 KLHL12 HGNC ENSG00000117153 215 1 0.462963 168 12 6.66667 ADIPOR1 0 genome.wustl.edu 37 1 202920110 202920110 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 202920110 202920110 A G SNP ADIPOR1 ENST00000340990 human ensembl 74_37 -1 known missense c.89 p.L30P 1.000 NULL pfam_HlyIII-related - no_errors ADIPOR1 HGNC ENSG00000159346 112 0 0 83 21 20.1923 CYB5R1 0 genome.wustl.edu 37 1 202932907 202932907 + RNA SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 202932907 202932907 T C SNP CYB5R1 ENST00000497655 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CYB5R1 HGNC ENSG00000159348 18 0 0 2 5 71.4286 ADORA1 0 genome.wustl.edu 37 1 203134421 203134421 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 203134421 203134421 C T SNP ADORA1 ENST00000309502 human ensembl 74_37 +1 known missense c.374 p.A125V 0.001 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_Adenosn_rcpt,prints_GPCR_Rhodpsn,prints_Adeno_A1_rcpt - no_errors ADORA1 HGNC ENSG00000163485 14 0 0 10 7 41.1765 ZC3H11A 0 genome.wustl.edu 37 1 203798733 203798733 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 203798733 203798733 G A SNP ZC3H11A ENST00000332127 human ensembl 74_37 +1 known silent c.453 p.T151 0.998 NULL smart_Znf_CCCH - no_errors ZC3H11A HGNC ENSG00000058673 173 0 0 192 11 5.41872 LINC00303 0 genome.wustl.edu 37 1 204006616 204006616 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 204006616 204006616 G A SNP LINC00303 ENST00000367207 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00303 HGNC ENSG00000176754 70 0 0 60 4 6.25 PLEKHA6 0 genome.wustl.edu 37 1 204226501 204226501 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 204226501 204226501 G A SNP PLEKHA6 ENST00000272203 human ensembl 74_37 -1 known nonsense c.1504 p.R502* 0.941 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 11 0 0 2 3 60 SLC45A3 0 genome.wustl.edu 37 1 205632060 205632060 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 205632060 205632060 T C SNP SLC45A3 ENST00000367145 human ensembl 74_37 -1 known missense c.859 p.T287A 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A3 HGNC ENSG00000158715 22 0 0 40 4 9.09091 PM20D1 0 genome.wustl.edu 37 1 205814498 205814498 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 205814498 205814498 G A SNP PM20D1 ENST00000367136 human ensembl 74_37 -1 known silent c.444 p.G148 0.872 pfam_Peptidase_M20 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer - no_errors PM20D1 HGNC ENSG00000162877 124 1 0.8 71 25 26.0417 CD34 0 genome.wustl.edu 37 1 208061099 208061099 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 208061099 208061099 G A SNP CD34 ENST00000310833 human ensembl 74_37 -1 known missense c.1142 p.A381V 1.000 pfam_CD34/Podocalyxin,prints_CD34 pfam_CD34/Podocalyxin,prints_CD34 - no_errors CD34 HGNC ENSG00000174059 88 0 0 54 16 22.8571 PLXNA2 0 genome.wustl.edu 37 1 208212226 208212226 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 208212226 208212226 G A SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known missense c.4604 p.A1535V 0.993 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 129 0 0 72 27 27.2727 MUL1 0 genome.wustl.edu 37 1 20827511 20827511 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 20827511 20827511 G A SNP MUL1 ENST00000264198 human ensembl 74_37 -1 known missense c.731 p.A244V 0.665 pfam_MULAN pfam_MULAN,pfscan_Znf_RING - no_errors MUL1 HGNC ENSG00000090432 70 0 0 48 13 21.3115 PINK1 0 genome.wustl.edu 37 1 20975458 20975458 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 20975458 20975458 C T SNP PINK1 ENST00000492302 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PINK1 HGNC ENSG00000158828 25 0 0 24 8 25 HHAT 0 genome.wustl.edu 37 1 210591562 210591562 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 210591562 210591562 G A SNP HHAT ENST00000391905 human ensembl 74_37 +1 known missense c.749 p.R250H 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors HHAT HGNC ENSG00000054392 87 0 0 50 8 13.7931 KCNH1 0 genome.wustl.edu 37 1 210971031 210971031 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 210971031 210971031 C A SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known missense c.1734 p.E578D 1.000 superfamily_cNMP-bd-like pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 57 0 0 37 6 13.9535 RCOR3 0 genome.wustl.edu 37 1 211451507 211451507 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 211451507 211451507 A G SNP RCOR3 ENST00000367005 human ensembl 74_37 +1 known missense c.391 p.K131E 1.000 superfamily_Homeodomain-like,smart_SANT/Myb pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors RCOR3 HGNC ENSG00000117625 92 0 0 62 26 29.5455 NEK2 0 genome.wustl.edu 37 1 211842455 211842455 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 211842455 211842455 G A SNP NEK2 ENST00000540251 human ensembl 74_37 -1 known nonsense c.856 p.Q286* 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors NEK2 HGNC ENSG00000117650 319 0 0 229 70 23.4114 DTL 0 genome.wustl.edu 37 1 212273912 212273912 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 212273912 212273912 C T SNP DTL ENST00000366991 human ensembl 74_37 +1 known missense c.1580 p.P527L 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DTL HGNC ENSG00000143476 115 0 0 81 26 24.2991 RPS6KC1 0 genome.wustl.edu 37 1 213414415 213414415 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 213414415 213414415 G T SNP RPS6KC1 ENST00000366960 human ensembl 74_37 +1 known missense c.1596 p.E532D 0.786 NULL pfam_Prot_kinase_dom,pfam_MIT,pfam_Phox,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Phox,pfscan_Prot_kinase_dom - no_errors RPS6KC1 HGNC ENSG00000136643 58 0 0 46 14 23.3333 PROX1 0 genome.wustl.edu 37 1 214171100 214171100 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 214171100 214171100 C T SNP PROX1 ENST00000261454 human ensembl 74_37 +1 known missense c.1222 p.R408C 1.000 pfam_Homeo_prospero_dom pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 115 0 0 67 26 27.957 PROX1 0 genome.wustl.edu 37 1 214171117 214171117 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 214171117 214171117 C T SNP PROX1 ENST00000261454 human ensembl 74_37 +1 known silent c.1239 p.G413 1.000 pfam_Homeo_prospero_dom pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 111 0 0 103 8 7.20721 KCTD3 0 genome.wustl.edu 37 1 215793881 215793881 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 215793881 215793881 C T SNP KCTD3 ENST00000259154 human ensembl 74_37 +1 known missense c.2369 p.A790V 0.971 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors KCTD3 HGNC ENSG00000136636 131 0 0 88 48 35.2941 USH2A 0 genome.wustl.edu 37 1 216040396 216040396 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 216040396 216040396 G A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.8798 p.A2933V 0.000 pfam_Fibronectin_type3,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 85 0 0 56 18 24.3243 USH2A 0 genome.wustl.edu 37 1 216595645 216595645 + Missense_Mutation SNP A A C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 216595645 216595645 A C SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.34 p.F12V 0.005 NULL pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 89 0 0 83 7 7.77778 GPATCH2 0 genome.wustl.edu 37 1 217671533 217671533 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 217671533 217671533 G A SNP GPATCH2 ENST00000485274 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors GPATCH2 HGNC ENSG00000092978 46 0 0 22 9 29.0323 NBPF3 0 genome.wustl.edu 37 1 21795287 21795287 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 21795287 21795287 G A SNP NBPF3 ENST00000318249 human ensembl 74_37 +1 known silent c.240 p.S80 0.000 NULL pfam_NBPF_dom - no_errors NBPF3 HGNC ENSG00000142794 160 0 0 101 45 30.8219 TGFB2 0 genome.wustl.edu 37 1 218607501 218607501 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 218607501 218607501 C T SNP TGFB2 ENST00000366929 human ensembl 74_37 +1 known silent c.672 p.G224 0.637 pirsf_TGF-beta,pfam_TGF-b_N,prints_TGF-beta pirsf_TGF-beta,pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_TGFb2,prints_TGF-beta - no_errors TGFB2 HGNC ENSG00000092969 142 0 0 83 84 50.2994 RAP1GAP 0 genome.wustl.edu 37 1 21926080 21926080 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 21926080 21926080 C T SNP RAP1GAP ENST00000290101 human ensembl 74_37 -1 known silent c.1875 p.A625 0.998 NULL pfam_Rap_GAP_dom,pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Rap_GAP_dom - no_errors RAP1GAP HGNC ENSG00000076864 31 0 0 16 4 20 USP48 0 genome.wustl.edu 37 1 22030030 22030030 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 22030030 22030030 A G SNP USP48 ENST00000308271 human ensembl 74_37 -1 known missense c.2597 p.V866A 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 142 0 0 80 22 21.5686 RAB3GAP2 0 genome.wustl.edu 37 1 220345285 220345285 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 220345285 220345285 C T SNP RAB3GAP2 ENST00000358951 human ensembl 74_37 -1 known silent c.2523 p.A841 0.014 NULL superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC ENSG00000118873 79 0 0 75 22 22.6804 MARC1 0 genome.wustl.edu 37 1 220970031 220970031 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 220970031 220970031 G A SNP MARC1 ENST00000366910 human ensembl 74_37 +1 known missense c.496 p.A166T 0.950 pfam_MOSC_N,superfamily_Pyrv_Knase-like_insert_dom pfam_MOSC_N,pfam_MoCF_Sase_C,superfamily_Pyrv_Knase-like_insert_dom - no_errors MARC1 HGNC ENSG00000186205 31 0 0 27 6 18.1818 DUSP10 0 genome.wustl.edu 37 1 221912575 221912575 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 221912575 221912575 C T SNP DUSP10 ENST00000366899 human ensembl 74_37 -1 known missense c.512 p.G171D 1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom 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 93 0 0 42 15 26.3158 HHIPL2 0 genome.wustl.edu 37 1 222717211 222717211 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 222717211 222717211 G A SNP HHIPL2 ENST00000343410 human ensembl 74_37 -1 known silent c.642 p.N214 0.965 superfamily_Quinoprot_gluc/sorb_DH pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like - no_errors HHIPL2 HGNC ENSG00000143512 38 0 0 28 5 15.1515 MIA3 0 genome.wustl.edu 37 1 222803003 222803003 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 222803003 222803003 G A SNP MIA3 ENST00000344441 human ensembl 74_37 +1 known missense c.2441 p.R814H 0.001 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 72 0 0 53 5 8.62069 BROX 0 genome.wustl.edu 37 1 222898866 222898866 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 222898866 222898866 C T SNP BROX ENST00000539697 human ensembl 74_37 +1 known silent c.453 p.Y151 0.699 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfscan_BRO1_dom - no_errors BROX HGNC ENSG00000162819 61 0 0 40 21 34.4262 DISP1 0 genome.wustl.edu 37 1 223177973 223177973 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 223177973 223177973 C T SNP DISP1 ENST00000284476 human ensembl 74_37 +1 novel silent c.3234 p.R1078 1.000 pfam_Patched,pfam_MMPL_dom pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 60 0 0 31 11 26.1905 DISP1 0 genome.wustl.edu 37 1 223178672 223178672 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 223178672 223178672 C T SNP DISP1 ENST00000284476 human ensembl 74_37 +1 novel silent c.3933 p.G1311 0.000 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 123 1 0.806452 101 6 5.60748 CAPN2 0 genome.wustl.edu 37 1 223933116 223933116 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 223933116 223933116 G A SNP CAPN2 ENST00000295006 human ensembl 74_37 +1 known missense c.535 p.A179T 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 58 0 0 39 11 22 EPHX1 0 genome.wustl.edu 37 1 226016576 226016576 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 226016576 226016576 G A SNP EPHX1 ENST00000272167 human ensembl 74_37 +1 known missense c.146 p.R49H 0.972 pfam_Epoxide_hydro_N,pirsf_Epoxide_hydrolase pfam_Epoxide_hydro_N,pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase,prints_Epox_hydrolase-like - no_errors EPHX1 HGNC ENSG00000143819 17 0 0 7 3 30 PYCR2 0 genome.wustl.edu 37 1 226109900 226109900 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 226109900 226109900 G A SNP PYCR2 ENST00000478402 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PYCR2 HGNC ENSG00000143811 45 0 0 28 8 22.2222 H3F3A 0 genome.wustl.edu 37 1 226253372 226253372 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 226253372 226253372 G A SNP H3F3A ENST00000366813 human ensembl 74_37 +1 known silent c.144 p.A48 0.996 superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors H3F3A HGNC ENSG00000163041 54 0 0 33 11 25 PARP1 0 genome.wustl.edu 37 1 226576444 226576444 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 226576444 226576444 G A SNP PARP1 ENST00000366794 human ensembl 74_37 -1 known silent c.630 p.G210 0.074 pirsf_NAD_ADPRT pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP1 HGNC ENSG00000143799 177 0 0 113 45 28.481 ITPKB 0 genome.wustl.edu 37 1 226923286 226923286 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 226923286 226923286 C T SNP ITPKB ENST00000272117 human ensembl 74_37 -1 known missense c.1874 p.R625H 1.000 NULL pfam_IPK - no_errors ITPKB HGNC ENSG00000143772 90 0 0 77 6 7.22892 OBSCN 0 genome.wustl.edu 37 1 228459736 228459736 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 228459736 228459736 G A SNP OBSCN ENST00000570156 human ensembl 74_37 +1 putative missense c.5800 p.A1934T 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_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 91 0 0 69 10 12.6582 OBSCN 0 genome.wustl.edu 37 1 228461716 228461716 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 228461716 228461716 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.5383 p.A1795T 0.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_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 17 0 0 7 3 30 OBSCN 0 genome.wustl.edu 37 1 228467553 228467553 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 228467553 228467553 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.7428 p.E2476 1.000 pfam_Ig_I-set,smart_Ig_sub,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 15 0 0 4 3 42.8571 OBSCN 0 genome.wustl.edu 37 1 228506834 228506834 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 228506834 228506834 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.14381 p.R4794H 0.919 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 16 0 0 8 10 55.5556 HIST3H2A 0 genome.wustl.edu 37 1 228645350 228645350 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 228645350 228645350 C T SNP HIST3H2A ENST00000366695 human ensembl 74_37 -1 known missense c.169 p.E57K 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST3H2A HGNC ENSG00000181218 51 0 0 36 4 10 CCSAP 0 genome.wustl.edu 37 1 229462504 229462504 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 229462504 229462504 G A SNP CCSAP ENST00000284617 human ensembl 74_37 -1 known missense c.617 p.A206V 0.900 NULL NULL - no_errors CCSAP HGNC ENSG00000154429 82 0 0 75 6 7.40741 ABCB10 0 genome.wustl.edu 37 1 229676376 229676376 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 229676376 229676376 C T SNP ABCB10 ENST00000344517 human ensembl 74_37 -1 known missense c.1180 p.A394T 0.971 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 ABCB10 HGNC ENSG00000135776 90 0 0 72 30 29.4118 TAF5L 0 genome.wustl.edu 37 1 229730363 229730363 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 229730363 229730363 G A SNP TAF5L ENST00000258281 human ensembl 74_37 -1 known missense c.1451 p.A484V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TAF5L HGNC ENSG00000135801 109 0 0 71 11 13.4146 URB2 0 genome.wustl.edu 37 1 229771702 229771702 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 229771702 229771702 G A SNP URB2 ENST00000258243 human ensembl 74_37 +1 known missense c.1342 p.A448T 1.000 NULL pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 115 0 0 81 30 27.027 PGBD5 0 genome.wustl.edu 37 1 230492910 230492910 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 230492910 230492910 C T SNP PGBD5 ENST00000321327 human ensembl 74_37 -1 known silent c.579 p.T193 0.433 NULL NULL - no_errors PGBD5 HGNC ENSG00000177614 62 0 0 35 9 20.4545 CAPN9 0 genome.wustl.edu 37 1 230910313 230910313 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 230910313 230910313 C T SNP CAPN9 ENST00000271971 human ensembl 74_37 +1 known missense c.889 p.R297C 0.735 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,smart_EF_hand_dom,prints_Calpain_cysteine_protease,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat - no_errors CAPN9 HGNC ENSG00000135773 76 0 0 48 12 20 TTC13 0 genome.wustl.edu 37 1 231090101 231090101 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 231090101 231090101 C T SNP TTC13 ENST00000366661 human ensembl 74_37 -1 known missense c.491 p.R164Q 0.998 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC13 HGNC ENSG00000143643 34 0 0 30 7 18.9189 EPHB2 0 genome.wustl.edu 37 1 23111526 23111526 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 23111526 23111526 C T SNP EPHB2 ENST00000400191 human ensembl 74_37 +1 known silent c.768 p.C256 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 44 0 0 25 4 13.7931 EXOC8 0 genome.wustl.edu 37 1 231471819 231471819 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 231471819 231471819 T C SNP EXOC8 ENST00000360394 human ensembl 74_37 -1 known missense c.1673 p.Y558C 1.000 NULL superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors EXOC8 HGNC ENSG00000116903 65 0 0 54 20 27.027 EPHB2 0 genome.wustl.edu 37 1 23191488 23191488 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 23191488 23191488 C T SNP EPHB2 ENST00000400191 human ensembl 74_37 +1 known silent c.1086 p.C362 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 76 0 0 43 11 20.3704 TARBP1 0 genome.wustl.edu 37 1 234541923 234541923 + RNA SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 234541923 234541923 A G SNP TARBP1 ENST00000462259 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TARBP1 HGNC ENSG00000059588 25 0 0 17 8 32 LYST 0 genome.wustl.edu 37 1 235971802 235971802 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 235971802 235971802 G A SNP LYST ENST00000389793 human ensembl 74_37 -1 known silent c.2316 p.D772 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 81 0 0 45 14 23.7288 NID1 0 genome.wustl.edu 37 1 236228195 236228195 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 236228195 236228195 G A SNP NID1 ENST00000264187 human ensembl 74_37 -1 known missense c.185 p.A62V 0.034 NULL pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 14 0 0 9 5 35.7143 HEATR1 0 genome.wustl.edu 37 1 236721600 236721600 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 236721600 236721600 G A SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known missense c.5141 p.A1714V 1.000 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 75 0 0 61 9 12.8571 MTR 0 genome.wustl.edu 37 1 237054573 237054573 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 237054573 237054573 G A SNP MTR ENST00000366577 human ensembl 74_37 +1 known missense c.3148 p.A1050T 0.009 superfamily_VitB12-dep_Met_synth_activ_dom,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,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 108 0 0 73 29 28.4314 RYR2 0 genome.wustl.edu 37 1 237664107 237664107 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 237664107 237664107 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.2294 p.S765L 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,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 227 0 0 151 75 33.1858 RYR2 0 genome.wustl.edu 37 1 237774245 237774245 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 237774245 237774245 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.4861 p.D1621N 0.901 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 28 0 0 7 4 36.3636 RYR2 0 genome.wustl.edu 37 1 237780631 237780631 + Missense_Mutation SNP C C G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 237780631 237780631 C G SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.5755 p.R1919G 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 50 0 0 42 14 25 KMO 0 genome.wustl.edu 37 1 241695795 241695795 + Silent SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 241695795 241695795 C A SNP KMO ENST00000366559 human ensembl 74_37 +1 known silent c.51 p.G17 0.965 pfam_mOase_FAD-bd,prints_Rng_hydrolase-like pfam_mOase_FAD-bd,prints_Rng_hydrolase-like - no_errors KMO HGNC ENSG00000117009 115 0 0 96 25 20.6612 MYOM3 0 genome.wustl.edu 37 1 24410941 24410941 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 24410941 24410941 C T SNP MYOM3 ENST00000475306 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MYOM3 HGNC ENSG00000142661 93 0 0 64 22 25.5814 ZBTB18 0 genome.wustl.edu 37 1 244217659 244217659 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 244217659 244217659 C T SNP ZBTB18 ENST00000358704 human ensembl 74_37 +1 known nonsense c.583 p.R195* 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 ZBTB18 HGNC ENSG00000179456 58 0 0 45 6 11.7647 DESI2 0 genome.wustl.edu 37 1 244869074 244869074 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 244869074 244869074 C T SNP DESI2 ENST00000302550 human ensembl 74_37 +1 novel missense c.568 p.R190C 1.000 NULL pfam_PPPDE_dom - no_errors DESI2 HGNC ENSG00000121644 35 0 0 22 13 37.1429 ZNF124 0 genome.wustl.edu 37 1 247320104 247320104 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 247320104 247320104 C T SNP ZNF124 ENST00000543802 human ensembl 74_37 -1 known missense c.820 p.A274T 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 ZNF124 HGNC ENSG00000196418 89 0 0 104 10 8.77193 ZNF496 0 genome.wustl.edu 37 1 247492570 247492570 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 247492570 247492570 G A SNP ZNF496 ENST00000366498 human ensembl 74_37 -1 known missense c.311 p.A104V 0.994 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF496 HGNC ENSG00000162714 42 0 0 22 14 38.8889 ZNF496 0 genome.wustl.edu 37 1 247492680 247492680 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 247492680 247492680 G A SNP ZNF496 ENST00000366498 human ensembl 74_37 -1 known silent c.201 p.C67 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,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF496 HGNC ENSG00000162714 37 0 0 27 6 18.1818 OR2W5 0 genome.wustl.edu 37 1 247654661 247654661 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 247654661 247654661 G A SNP OR2W5 ENST00000522351 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors OR2W5 HGNC ENSG00000203664 53 0 0 37 10 21.2766 OR2L5 0 genome.wustl.edu 37 1 248185270 248185270 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 248185270 248185270 G A SNP OR2L5 ENST00000355281 human ensembl 74_37 +1 known silent c.21 p.T7 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L5 HGNC ENSG00000197454 113 0 0 92 9 8.91089 OR2M3 0 genome.wustl.edu 37 1 248366705 248366705 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 248366705 248366705 C T SNP OR2M3 ENST00000456743 human ensembl 74_37 +1 known silent c.336 p.C112 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 OR2M3 HGNC ENSG00000228198 280 0 0 247 16 6.08365 OR2T4 0 genome.wustl.edu 37 1 248525590 248525590 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 248525590 248525590 C T SNP OR2T4 ENST00000366475 human ensembl 74_37 +1 known silent c.708 p.V236 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T4 HGNC ENSG00000196944 151 0 0 139 8 5.44218 SH3BP5L 0 genome.wustl.edu 37 1 249108714 249108714 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 249108714 249108714 G A SNP SH3BP5L ENST00000366472 human ensembl 74_37 -1 known silent c.471 p.G157 0.039 pfam_SH3-bd_5 pfam_SH3-bd_5 - no_errors SH3BP5L HGNC ENSG00000175137 29 0 0 19 6 24 MMEL1 0 genome.wustl.edu 37 1 2527522 2527522 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 2527522 2527522 G A SNP MMEL1 ENST00000378412 human ensembl 74_37 -1 known missense c.1426 p.R476W 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MMEL1 HGNC ENSG00000142606 148 0 0 92 36 28.125 LDLRAP1 0 genome.wustl.edu 37 1 25883728 25883728 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 25883728 25883728 C T SNP LDLRAP1 ENST00000374338 human ensembl 74_37 +1 known silent c.429 p.C143 1.000 pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors LDLRAP1 HGNC ENSG00000157978 59 0 0 33 12 26.6667 EXTL1 0 genome.wustl.edu 37 1 26349584 26349584 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 26349584 26349584 G A SNP EXTL1 ENST00000374280 human ensembl 74_37 +1 known missense c.447 p.M149I 0.822 pfam_Exostosin pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL1 HGNC ENSG00000158008 45 0 0 38 11 22.449 LIN28A 0 genome.wustl.edu 37 1 26737994 26737994 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 26737994 26737994 G A SNP LIN28A ENST00000254231 human ensembl 74_37 +1 known missense c.149 p.R50H 1.000 pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot,prints_CSP_DNA-bd pfam_CSP_DNA-bd,pfam_Znf_CCHC,superfamily_NA-bd_OB-fold,superfamily_Znf_CCHC,smart_Cold_shock_prot,smart_Znf_CCHC,pfscan_Znf_CCHC,prints_CSP_DNA-bd - no_errors LIN28A HGNC ENSG00000131914 38 0 0 17 5 22.7273 RPS6KA1 0 genome.wustl.edu 37 1 26900639 26900639 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 26900639 26900639 T C SNP RPS6KA1 ENST00000531382 human ensembl 74_37 +1 known missense c.2182 p.S728P 0.993 superfamily_Kinase-like_dom,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 65 0 0 30 8 21.0526 ARID1A 0 genome.wustl.edu 37 1 27105886 27105886 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 27105886 27105886 C T SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known missense c.5497 p.R1833C 0.999 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 69 0 0 43 16 27.1186 C1orf172 0 genome.wustl.edu 37 1 27278023 27278023 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 27278023 27278023 C T SNP C1orf172 ENST00000320567 human ensembl 74_37 -1 known silent c.849 p.T283 0.119 NULL NULL - no_errors C1orf172 HGNC ENSG00000175707 49 0 0 24 7 22.5806 GPR3 0 genome.wustl.edu 37 1 27720703 27720703 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 27720703 27720703 G A SNP GPR3 ENST00000374024 human ensembl 74_37 +1 known missense c.401 p.R134H 1.000 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,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 113 0 0 68 15 18.0723 PPP1R8 0 genome.wustl.edu 37 1 28176610 28176610 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 28176610 28176610 C T SNP PPP1R8 ENST00000311772 human ensembl 74_37 +1 known missense c.709 p.R237C 0.983 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors PPP1R8 HGNC ENSG00000117751 184 1 0.540541 143 29 16.8605 YTHDF2 0 genome.wustl.edu 37 1 29070189 29070189 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 29070189 29070189 C T SNP YTHDF2 ENST00000373812 human ensembl 74_37 +1 known silent c.1407 p.G469 0.990 pfam_YTH_domain,pfscan_YTH_domain pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF2 HGNC ENSG00000198492 59 0 0 33 12 26.6667 EPB41 0 genome.wustl.edu 37 1 29365769 29365769 + Missense_Mutation SNP G G C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 29365769 29365769 G C SNP EPB41 ENST00000343067 human ensembl 74_37 +1 known missense c.1467 p.L489F 1.000 pirsf_Band_41_protein,pfam_FERM_PH-like_C,pfscan_FERM_domain pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain - no_errors EPB41 HGNC ENSG00000159023 111 0 0 60 28 31.8182 MECR 0 genome.wustl.edu 37 1 29533360 29533360 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 29533360 29533360 T C SNP MECR ENST00000263702 human ensembl 74_37 -1 known missense c.464 p.D155G 1.000 superfamily_GroES-like,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors MECR HGNC ENSG00000116353 106 0 0 40 8 16.6667 FABP3 0 genome.wustl.edu 37 1 31838774 31838774 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 31838774 31838774 C T SNP FABP3 ENST00000373713 human ensembl 74_37 -1 known missense c.361 p.G121S 0.975 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP3 HGNC ENSG00000121769 34 0 0 25 8 24.2424 TINAGL1 0 genome.wustl.edu 37 1 32042850 32042850 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 32042850 32042850 G A SNP TINAGL1 ENST00000271064 human ensembl 74_37 +1 known missense c.101 p.G34D 0.459 NULL pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom - no_errors TINAGL1 HGNC ENSG00000142910 20 0 0 13 5 27.7778 TINAGL1 0 genome.wustl.edu 37 1 32049118 32049118 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 32049118 32049118 G A SNP TINAGL1 ENST00000271064 human ensembl 74_37 +1 known missense c.524 p.R175H 1.000 NULL pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom - no_errors TINAGL1 HGNC ENSG00000142910 21 0 0 15 3 16.6667 SPOCD1 0 genome.wustl.edu 37 1 32265460 32265460 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 32265460 32265460 C T SNP SPOCD1 ENST00000360482 human ensembl 74_37 -1 known missense c.1733 p.G578D 0.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M - no_errors SPOCD1 HGNC ENSG00000134668 54 0 0 35 5 12.5 EIF3I 0 genome.wustl.edu 37 1 32690021 32690021 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 32690021 32690021 G A SNP EIF3I ENST00000373586 human ensembl 74_37 +1 known silent c.195 p.K65 0.994 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EIF3I HGNC ENSG00000084623 58 0 0 51 5 8.92857 HDAC1 0 genome.wustl.edu 37 1 32793077 32793077 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 32793077 32793077 G A SNP HDAC1 ENST00000490081 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HDAC1 HGNC ENSG00000116478 59 0 0 31 10 24.3902 SYNC 0 genome.wustl.edu 37 1 33160998 33160998 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 33160998 33160998 C T SNP SYNC ENST00000409190 human ensembl 74_37 -1 known missense c.701 p.G234D 0.983 pfam_IF pfam_IF - no_errors SYNC HGNC ENSG00000162520 13 0 0 6 3 33.3333 PHC2 0 genome.wustl.edu 37 1 33836643 33836643 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 33836643 33836643 G A SNP PHC2 ENST00000419414 human ensembl 74_37 -1 known missense c.386 p.A129V 0.125 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC2 HGNC ENSG00000134686 111 0 0 51 30 37.037 PHC2 0 genome.wustl.edu 37 1 33840979 33840979 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 33840979 33840979 C T SNP PHC2 ENST00000419414 human ensembl 74_37 -1 known silent c.162 p.R54 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC2 HGNC ENSG00000134686 103 0 0 79 18 18.5567 ZSCAN20 0 genome.wustl.edu 37 1 33944899 33944899 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 33944899 33944899 G A SNP ZSCAN20 ENST00000361328 human ensembl 74_37 +1 known missense c.10 p.A4T 0.041 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN20 HGNC ENSG00000121903 115 0 0 87 8 8.42105 CSMD2 0 genome.wustl.edu 37 1 33985194 33985194 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 33985194 33985194 T C SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.10820 p.D3607G 1.000 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 270 0 0 130 58 30.8511 CSMD2 0 genome.wustl.edu 37 1 34128652 34128652 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 34128652 34128652 C T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.4093 p.V1365M 0.997 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 67 0 0 26 19 42.2222 WRAP73 0 genome.wustl.edu 37 1 3551635 3551635 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 3551635 3551635 G A SNP WRAP73 ENST00000270708 human ensembl 74_37 -1 known missense c.742 p.R248C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WRAP73 HGNC ENSG00000116213 152 0 0 119 8 6.29921 ZMYM4 0 genome.wustl.edu 37 1 35855553 35855553 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 35855553 35855553 C T SNP ZMYM4 ENST00000314607 human ensembl 74_37 +1 known missense c.2441 p.A814V 1.000 NULL pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM4 HGNC ENSG00000146463 54 0 0 58 9 13.4328 PSMB2 0 genome.wustl.edu 37 1 36074953 36074953 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 36074953 36074953 C T SNP PSMB2 ENST00000373237 human ensembl 74_37 -1 known silent c.342 p.A114 0.486 pfam_Proteasome_sua/b pfam_Proteasome_sua/b - no_errors PSMB2 HGNC ENSG00000126067 55 0 0 42 4 8.69565 CLSPN 0 genome.wustl.edu 37 1 36203693 36203693 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 36203693 36203693 C T SNP CLSPN ENST00000318121 human ensembl 74_37 -1 known silent c.3564 p.Q1188 1.000 NULL NULL - no_errors CLSPN HGNC ENSG00000092853 49 0 0 26 11 29.7297 TP73 0 genome.wustl.edu 37 1 3624161 3624161 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 3624161 3624161 G A SNP TP73 ENST00000378295 human ensembl 74_37 +1 known missense c.235 p.A79T 0.995 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP73 HGNC ENSG00000078900 71 0 0 45 12 21.0526 AGO1 0 genome.wustl.edu 37 1 36367904 36367904 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 36367904 36367904 G A SNP AGO1 ENST00000373204 human ensembl 74_37 +1 known missense c.1363 p.A455T 1.000 NULL pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO1 HGNC ENSG00000092847 61 0 0 42 13 23.6364 ADPRHL2 0 genome.wustl.edu 37 1 36557565 36557565 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 36557565 36557565 G A SNP ADPRHL2 ENST00000373178 human ensembl 74_37 +1 known missense c.571 p.A191T 1.000 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1 - no_errors ADPRHL2 HGNC ENSG00000116863 48 0 0 28 4 12.5 CEP104 0 genome.wustl.edu 37 1 3768869 3768869 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 3768869 3768869 G A SNP CEP104 ENST00000378230 human ensembl 74_37 -1 known missense c.103 p.R35W 1.000 superfamily_Galactose-bd-like superfamily_Galactose-bd-like,superfamily_ARM-type_fold - no_errors CEP104 HGNC ENSG00000116198 36 0 0 17 5 22.7273 EPHA10 0 genome.wustl.edu 37 1 38227345 38227345 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 38227345 38227345 G A SNP EPHA10 ENST00000427468 human ensembl 74_37 -1 known silent c.582 p.D194 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA10 HGNC ENSG00000183317 38 0 0 18 5 21.7391 MACF1 0 genome.wustl.edu 37 1 39797772 39797772 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 39797772 39797772 G A SNP MACF1 ENST00000567887 human ensembl 74_37 +1 putative missense c.5623 p.A1875T 0.999 pfam_Plectin_repeat,superfamily_RNaseH-like_dom,smart_Plectin_repeat pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_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 MACF1 HGNC ENSG00000127603 106 0 0 54 24 30.7692 PPIE 0 genome.wustl.edu 37 1 40205879 40205879 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 40205879 40205879 C T SNP PPIE ENST00000324379 human ensembl 74_37 +1 known missense c.74 p.A25V 1.000 pfam_RRM_dom,smart_RRM_dom,pirsf_Cyclophilin-type_PPIase_E,pfscan_RRM_dom pfam_Cyclophilin-like_PPIase_dom,pfam_RRM_dom,superfamily_Cyclophilin-like_PPIase_dom,smart_RRM_dom,pirsf_Cyclophilin-type_PPIase_E,pfscan_RRM_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIE HGNC ENSG00000084072 65 0 0 35 4 10.2564 MYCL 0 genome.wustl.edu 37 1 40363547 40363547 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 40363547 40363547 G A SNP MYCL ENST00000372816 human ensembl 74_37 -1 known missense c.592 p.P198S 1.000 pfam_Tscrpt_reg_Myc_N pfam_Tscrpt_reg_Myc_N,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc - no_errors MYCL HGNC ENSG00000116990 131 0 0 82 7 7.86517 RLF 0 genome.wustl.edu 37 1 40702413 40702413 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 40702413 40702413 G A SNP RLF ENST00000372771 human ensembl 74_37 +1 known missense c.2039 p.R680H 0.998 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 113 1 0.877193 90 28 23.7288 SMAP2 0 genome.wustl.edu 37 1 40887722 40887722 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 40887722 40887722 C T SNP SMAP2 ENST00000372718 human ensembl 74_37 +1 known silent c.1239 p.G413 0.623 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP2 HGNC ENSG00000084070 94 0 0 62 17 21.519 EXO5 0 genome.wustl.edu 37 1 40981166 40981166 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 40981166 40981166 C T SNP EXO5 ENST00000296380 human ensembl 74_37 +1 known missense c.950 p.A317V 0.009 pfam_EXOV pfam_EXOV - no_errors EXO5 HGNC ENSG00000164002 70 0 0 53 7 11.6667 CTPS1 0 genome.wustl.edu 37 1 41463094 41463094 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 41463094 41463094 A G SNP CTPS1 ENST00000372616 human ensembl 74_37 +1 known missense c.901 p.I301V 1.000 tigrfam_CTP_synthase pfam_CTP_synthase_N,pfam_GATASE,pfam_Peptidase_C26,superfamily_P-loop_NTPase,tigrfam_CTP_synthase - no_errors CTPS1 HGNC ENSG00000171793 108 0 0 94 8 7.84314 SLFNL1 0 genome.wustl.edu 37 1 41483534 41483534 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 41483534 41483534 G A SNP SLFNL1 ENST00000302946 human ensembl 74_37 -1 known missense c.730 p.R244W 1.000 pfam_ATPase_AAA-4 pfam_ATPase_AAA-4 - no_errors SLFNL1 HGNC ENSG00000171790 30 0 0 14 4 22.2222 FOXJ3 0 genome.wustl.edu 37 1 42664858 42664858 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 42664858 42664858 C T SNP FOXJ3 ENST00000361346 human ensembl 74_37 -1 known missense c.674 p.R225H 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXJ3 HGNC ENSG00000198815 110 0 0 81 19 19 SLC2A1 0 genome.wustl.edu 37 1 43396803 43396803 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 43396803 43396803 C T SNP SLC2A1 ENST00000426263 human ensembl 74_37 -1 known silent c.189 p.T63 0.021 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glu_transpt_1,tigrfam_Sugar/inositol_transpt - no_errors SLC2A1 HGNC ENSG00000117394 65 0 0 51 4 7.27273 SZT2 0 genome.wustl.edu 37 1 43889992 43889992 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 43889992 43889992 C T SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known missense c.2360 p.A787V 1.000 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 50 0 0 28 7 20 SZT2 0 genome.wustl.edu 37 1 43896333 43896333 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 43896333 43896333 C T SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known silent c.4476 p.G1492 0.009 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 118 0 0 66 29 30.5263 SZT2 0 genome.wustl.edu 37 1 43904428 43904428 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 43904428 43904428 G A SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known silent c.6396 p.T2132 0.000 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 52 0 0 19 10 34.4828 PTPRF 0 genome.wustl.edu 37 1 44086246 44086246 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 44086246 44086246 C T SNP PTPRF ENST00000359947 human ensembl 74_37 +1 known missense c.5360 p.A1787V 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 105 0 0 73 22 23.1579 KDM4A 0 genome.wustl.edu 37 1 44128589 44128589 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 44128589 44128589 C T SNP KDM4A ENST00000372396 human ensembl 74_37 +1 known missense c.454 p.R152W 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4A HGNC ENSG00000066135 108 0 0 61 25 29.0698 KDM4A 0 genome.wustl.edu 37 1 44137305 44137305 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 44137305 44137305 G A SNP KDM4A ENST00000372396 human ensembl 74_37 +1 known missense c.1493 p.R498H 0.930 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4A HGNC ENSG00000066135 83 0 0 48 31 39.2405 B4GALT2 0 genome.wustl.edu 37 1 44446911 44446911 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 44446911 44446911 G A SNP B4GALT2 ENST00000309519 human ensembl 74_37 +1 known missense c.166 p.A56T 1.000 NULL pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT2 HGNC ENSG00000117411 43 0 0 35 13 27.0833 SLC6A9 0 genome.wustl.edu 37 1 44467145 44467145 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 44467145 44467145 C T SNP SLC6A9 ENST00000360584 human ensembl 74_37 -1 known missense c.1336 p.E446K 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1 - no_errors SLC6A9 HGNC ENSG00000196517 90 0 0 44 16 26.6667 SLC6A9 0 genome.wustl.edu 37 1 44468044 44468044 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 44468044 44468044 G A SNP SLC6A9 ENST00000360584 human ensembl 74_37 -1 known silent c.1122 p.C374 0.977 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1 - no_errors SLC6A9 HGNC ENSG00000196517 67 0 0 50 5 9.09091 RNF220 0 genome.wustl.edu 37 1 44877906 44877906 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 44877906 44877906 G A SNP RNF220 ENST00000355387 human ensembl 74_37 +1 known missense c.137 p.R46Q 1.000 NULL superfamily_Peptidase_M20_dimer,pfscan_Znf_RING - no_errors RNF220 HGNC ENSG00000187147 191 0 0 160 14 8.04598 RNF220 0 genome.wustl.edu 37 1 45110700 45110700 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 45110700 45110700 C T SNP RNF220 ENST00000355387 human ensembl 74_37 +1 known silent c.1257 p.G419 0.990 NULL superfamily_Peptidase_M20_dimer,pfscan_Znf_RING - no_errors RNF220 HGNC ENSG00000187147 25 0 0 26 6 18.75 BEND5 0 genome.wustl.edu 37 1 49208298 49208298 + Silent SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 49208298 49208298 G T SNP BEND5 ENST00000371833 human ensembl 74_37 -1 known silent c.891 p.G297 1.000 NULL pfam_BEN_domain - no_errors BEND5 HGNC ENSG00000162373 106 0 0 59 22 27.1605 FAF1 0 genome.wustl.edu 37 1 51050377 51050377 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 51050377 51050377 G A SNP FAF1 ENST00000371778 human ensembl 74_37 -1 known missense c.947 p.A316V 1.000 NULL pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX - no_errors FAF1 HGNC ENSG00000185104 137 0 0 102 31 23.3083 TTC39A 0 genome.wustl.edu 37 1 51767382 51767382 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 51767382 51767382 G A SNP TTC39A ENST00000447632 human ensembl 74_37 -1 known silent c.1023 p.C341 1.000 pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39A HGNC ENSG00000085831 48 0 0 21 9 30 CC2D1B 0 genome.wustl.edu 37 1 52819265 52819265 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 52819265 52819265 G A SNP CC2D1B ENST00000371586 human ensembl 74_37 -1 known missense c.2503 p.R835W 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_DM14,smart_C2_dom - no_errors CC2D1B HGNC ENSG00000154222 19 0 0 14 5 26.3158 ORC1 0 genome.wustl.edu 37 1 52851607 52851607 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 52851607 52851607 C T SNP ORC1 ENST00000371566 human ensembl 74_37 -1 known silent c.1398 p.T466 0.689 NULL pfam_BAH_dom,pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,pfam_DUF2075,superfamily_P-loop_NTPase,smart_BAH_dom,smart_AAA+_ATPase,pfscan_BAH_dom - no_errors ORC1 HGNC ENSG00000085840 22 0 0 20 3 13.0435 ORC1 0 genome.wustl.edu 37 1 52861918 52861918 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 52861918 52861918 G A SNP ORC1 ENST00000371566 human ensembl 74_37 -1 known missense c.521 p.A174V 0.848 NULL pfam_BAH_dom,pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,pfam_DUF2075,superfamily_P-loop_NTPase,smart_BAH_dom,smart_AAA+_ATPase,pfscan_BAH_dom - no_errors ORC1 HGNC ENSG00000085840 97 0 0 85 7 7.6087 ZCCHC11 0 genome.wustl.edu 37 1 52954594 52954594 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 52954594 52954594 C T SNP ZCCHC11 ENST00000257177 human ensembl 74_37 -1 known missense c.1502 p.R501H 1.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ENSG00000134744 122 0 0 93 10 9.70874 USP24 0 genome.wustl.edu 37 1 55562761 55562761 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 55562761 55562761 G A SNP USP24 ENST00000407756 human ensembl 74_37 -1 known nonsense c.5320 p.R1774* 0.757 pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 60 0 0 37 13 26 CYP2J2 0 genome.wustl.edu 37 1 60375619 60375619 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 60375619 60375619 A G SNP CYP2J2 ENST00000371204 human ensembl 74_37 -1 known missense c.698 p.F233S 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2J-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like - no_errors CYP2J2 HGNC ENSG00000134716 53 0 0 53 5 8.62069 INADL 0 genome.wustl.edu 37 1 62293227 62293227 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 62293227 62293227 G A SNP INADL ENST00000371158 human ensembl 74_37 +1 known missense c.1952 p.R651H 0.001 superfamily_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 139 0 0 118 26 18.0556 DOCK7 0 genome.wustl.edu 37 1 62993865 62993865 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 62993865 62993865 A G SNP DOCK7 ENST00000251157 human ensembl 74_37 -1 known missense c.3893 p.V1298A 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 52 0 0 38 12 24 DOCK7 0 genome.wustl.edu 37 1 63113777 63113777 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 63113777 63113777 C T SNP DOCK7 ENST00000251157 human ensembl 74_37 -1 known silent c.732 p.E244 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 110 0 0 101 11 9.82143 GPR153 0 genome.wustl.edu 37 1 6311422 6311422 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 6311422 6311422 C A SNP GPR153 ENST00000377893 human ensembl 74_37 -1 known missense c.955 p.A319S 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR153,prints_GCR_153/162 - no_errors GPR153 HGNC ENSG00000158292 66 0 0 39 17 30.3571 ITGB3BP 0 genome.wustl.edu 37 1 63912521 63912521 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 63912521 63912521 C T SNP ITGB3BP ENST00000371092 human ensembl 74_37 -1 known missense c.608 p.R203H 0.001 pfam_CENP-R pfam_CENP-R - no_errors ITGB3BP HGNC ENSG00000142856 79 0 0 47 13 21.6667 EFCAB7 0 genome.wustl.edu 37 1 63999206 63999206 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 63999206 63999206 C T SNP EFCAB7 ENST00000371088 human ensembl 74_37 +1 known missense c.568 p.R190C 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB7 HGNC ENSG00000203965 256 0 0 205 12 5.52995 EFCAB7 0 genome.wustl.edu 37 1 64034139 64034139 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 64034139 64034139 C T SNP EFCAB7 ENST00000371088 human ensembl 74_37 +1 known silent c.1656 p.I552 0.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB7 HGNC ENSG00000203965 71 0 0 49 10 16.9492 JAK1 0 genome.wustl.edu 37 1 65344791 65344791 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 65344791 65344791 G A SNP JAK1 ENST00000342505 human ensembl 74_37 -1 known silent c.246 p.D82 0.996 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,smart_Band_41_domain,pfscan_FERM_domain pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors JAK1 HGNC ENSG00000162434 110 0 0 75 8 9.63855 DNAJC6 0 genome.wustl.edu 37 1 65851520 65851520 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 65851520 65851520 G A SNP DNAJC6 ENST00000371069 human ensembl 74_37 +1 known missense c.926 p.R309H 1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_C2_dom,smart_DnaJ_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors DNAJC6 HGNC ENSG00000116675 98 0 0 54 26 32.5 ZBTB48 0 genome.wustl.edu 37 1 6642155 6642155 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 6642155 6642155 G A SNP ZBTB48 ENST00000377674 human ensembl 74_37 +1 known missense c.728 p.G243D 0.937 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB48 HGNC ENSG00000204859 68 0 0 37 14 27.451 PHF13 0 genome.wustl.edu 37 1 6680350 6680350 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 6680350 6680350 G A SNP PHF13 ENST00000377648 human ensembl 74_37 +1 known missense c.629 p.R210Q 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF13 HGNC ENSG00000116273 24 0 0 19 4 17.3913 IL23R 0 genome.wustl.edu 37 1 67724598 67724598 + Missense_Mutation SNP T T G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 67724598 67724598 T G SNP IL23R ENST00000347310 human ensembl 74_37 +1 known missense c.1677 p.S559R 0.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL23R HGNC ENSG00000162594 108 0 0 75 29 27.8846 IL12RB2 0 genome.wustl.edu 37 1 67838350 67838350 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 67838350 67838350 A G SNP IL12RB2 ENST00000262345 human ensembl 74_37 +1 known missense c.1601 p.K534R 0.005 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB2 HGNC ENSG00000081985 59 0 0 55 25 31.25 IL12RB2 0 genome.wustl.edu 37 1 67852280 67852280 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 67852280 67852280 C T SNP IL12RB2 ENST00000262345 human ensembl 74_37 +1 known missense c.1874 p.A625V 0.000 NULL pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB2 HGNC ENSG00000081985 111 0 0 87 23 20.9091 WLS 0 genome.wustl.edu 37 1 68591897 68591897 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 68591897 68591897 C T SNP WLS ENST00000498615 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors WLS HGNC ENSG00000116729 47 0 0 31 2 6.06061 WLS 0 genome.wustl.edu 37 1 68659743 68659743 + Missense_Mutation SNP A A C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 68659743 68659743 A C SNP WLS ENST00000540432 human ensembl 74_37 -1 known missense c.274 p.F92V 1.000 NULL NULL - no_errors WLS HGNC ENSG00000116729 85 0 0 49 24 32.8767 LRRC7 0 genome.wustl.edu 37 1 70478695 70478695 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 70478695 70478695 C T SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known silent c.1059 p.R353 0.999 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 136 0 0 104 26 20 SRSF11 0 genome.wustl.edu 37 1 70700384 70700384 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 70700384 70700384 C T SNP SRSF11 ENST00000370950 human ensembl 74_37 +1 known silent c.453 p.G151 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF11 HGNC ENSG00000116754 83 0 0 68 12 15 ANKRD13C 0 genome.wustl.edu 37 1 70766510 70766510 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 70766510 70766510 C T SNP ANKRD13C ENST00000370944 human ensembl 74_37 -1 known silent c.858 p.A286 0.921 pfam_ANKRD13 pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD13C HGNC ENSG00000118454 44 0 0 20 10 33.3333 MSH4 0 genome.wustl.edu 37 1 76272758 76272758 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 76272758 76272758 G A SNP MSH4 ENST00000263187 human ensembl 74_37 +1 known missense c.520 p.A174T 1.000 pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mmatch_repair_MutS_con_dom pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH4 HGNC ENSG00000057468 131 0 0 77 6 7.22892 ST6GALNAC3 0 genome.wustl.edu 37 1 76877955 76877955 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 76877955 76877955 G A SNP ST6GALNAC3 ENST00000328299 human ensembl 74_37 +1 known missense c.476 p.R159H 1.000 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC3 HGNC ENSG00000184005 148 0 0 109 7 6.03448 CAMTA1 0 genome.wustl.edu 37 1 7700554 7700554 + Missense_Mutation SNP A A C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 7700554 7700554 A C SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known missense c.605 p.D202A 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 81 0 0 43 26 37.6812 CAMTA1 0 genome.wustl.edu 37 1 7797322 7797322 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 7797322 7797322 C T SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known missense c.3350 p.A1117V 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 136 0 0 93 5 5.10204 FAM73A 0 genome.wustl.edu 37 1 78272690 78272690 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 78272690 78272690 G A SNP FAM73A ENST00000370791 human ensembl 74_37 +1 known missense c.541 p.A181T 1.000 pfam_DUF2217 pfam_DUF2217 - no_errors FAM73A HGNC ENSG00000180488 122 0 0 120 7 5.51181 TNFRSF9 0 genome.wustl.edu 37 1 7993308 7993308 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 7993308 7993308 G A SNP TNFRSF9 ENST00000377507 human ensembl 74_37 -1 known missense c.593 p.A198V 0.000 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 47 0 0 34 4 10.5263 RERE 0 genome.wustl.edu 37 1 8425885 8425885 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 8425885 8425885 C T SNP RERE ENST00000337907 human ensembl 74_37 -1 known silent c.1434 p.P478 0.955 NULL 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 53 0 0 36 15 29.4118 RPF1 0 genome.wustl.edu 37 1 84961086 84961086 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 84961086 84961086 G A SNP RPF1 ENST00000370654 human ensembl 74_37 +1 known missense c.647 p.G216D 1.000 pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix - no_errors RPF1 HGNC ENSG00000117133 44 0 0 37 6 13.9535 WDR63 0 genome.wustl.edu 37 1 85559307 85559307 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 85559307 85559307 G A SNP WDR63 ENST00000294664 human ensembl 74_37 +1 known missense c.1024 p.V342I 0.021 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR63 HGNC ENSG00000162643 200 0 0 132 44 25 COL24A1 0 genome.wustl.edu 37 1 86590944 86590944 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 86590944 86590944 C T SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known missense c.1075 p.A359T 0.002 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 88 0 0 90 6 6.25 COL24A1 0 genome.wustl.edu 37 1 86591810 86591810 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 86591810 86591810 G A SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known missense c.209 p.P70L 0.982 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 71 0 0 67 18 21.1765 CLCA2 0 genome.wustl.edu 37 1 86900199 86900199 + Splice_Site SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 86900199 86900199 A G SNP CLCA2 ENST00000370565 human ensembl 74_37 +1 known splice_site c.745-2 e6-2 0.995 - - - no_errors CLCA2 HGNC ENSG00000137975 69 0 0 42 24 36.3636 SEP15 0 genome.wustl.edu 37 1 87333766 87333766 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 87333766 87333766 T C SNP SEP15 ENST00000401030 human ensembl 74_37 -1 known missense c.368 p.N123S 1.000 NULL NULL - no_errors SEP15 Uniprot_gn ENSG00000183291 69 0 0 47 20 29.8507 NOC2L 0 genome.wustl.edu 37 1 883877 883877 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 883877 883877 G A SNP NOC2L ENST00000327044 human ensembl 74_37 -1 known missense c.1550 p.A517V 0.991 pfam_Noc2,superfamily_ARM-type_fold pfam_Noc2,superfamily_ARM-type_fold - no_errors NOC2L HGNC ENSG00000188976 57 0 0 27 5 15.625 GBP7 0 genome.wustl.edu 37 1 89630432 89630432 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 89630432 89630432 G A SNP GBP7 ENST00000294671 human ensembl 74_37 -1 known silent c.300 p.G100 1.000 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP7 HGNC ENSG00000213512 71 0 0 79 5 5.95238 KLHL17 0 genome.wustl.edu 37 1 897043 897043 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 897043 897043 G A SNP KLHL17 ENST00000338591 human ensembl 74_37 +1 known silent c.402 p.T134 0.162 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 KLHL17 HGNC ENSG00000187961 16 0 0 11 5 31.25 CA6 0 genome.wustl.edu 37 1 9005999 9005999 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 9005999 9005999 G A SNP CA6 ENST00000377443 human ensembl 74_37 +1 known silent c.54 p.Q18 0.110 NULL pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA6 HGNC ENSG00000131686 54 0 0 37 6 13.9535 LRRC8D 0 genome.wustl.edu 37 1 90398905 90398905 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 90398905 90398905 G A SNP LRRC8D ENST00000337338 human ensembl 74_37 +1 known missense c.278 p.R93Q 0.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8D HGNC ENSG00000171492 58 0 0 38 15 28.3019 LRRC8D 0 genome.wustl.edu 37 1 90400837 90400837 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 90400837 90400837 G A SNP LRRC8D ENST00000337338 human ensembl 74_37 +1 known missense c.2210 p.S737N 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8D HGNC ENSG00000171492 99 0 0 78 17 17.8947 SLC2A7 0 genome.wustl.edu 37 1 9063462 9063462 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 9063462 9063462 C T SNP SLC2A7 ENST00000400906 human ensembl 74_37 -1 known missense c.1436 p.R479H 0.123 pfam_Sub_transporter pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A7 HGNC ENSG00000197241 84 0 0 46 10 17.8571 SLC2A5 0 genome.wustl.edu 37 1 9097693 9097693 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 9097693 9097693 C T SNP SLC2A5 ENST00000377424 human ensembl 74_37 -1 known silent c.1458 p.P486 0.000 prints_Fru_transpt_5 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Fru_transpt_5,tigrfam_Sugar/inositol_transpt - no_errors SLC2A5 HGNC ENSG00000142583 153 0 0 87 12 12.1212 HFM1 0 genome.wustl.edu 37 1 91818691 91818691 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 91818691 91818691 G T SNP HFM1 ENST00000370425 human ensembl 74_37 -1 known missense c.1748 p.A583D 0.996 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 84 0 0 52 16 23.5294 HFM1 0 genome.wustl.edu 37 1 91844024 91844024 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 91844024 91844024 C T SNP HFM1 ENST00000370425 human ensembl 74_37 -1 known missense c.1172 p.S391N 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 95 0 0 91 7 7.14286 CDC7 0 genome.wustl.edu 37 1 91977470 91977470 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 91977470 91977470 C T SNP CDC7 ENST00000234626 human ensembl 74_37 +1 known missense c.562 p.R188C 0.003 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 CDC7 HGNC ENSG00000097046 53 0 0 17 8 32 KIAA1107 0 genome.wustl.edu 37 1 92643912 92643912 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 92643912 92643912 C T SNP KIAA1107 ENST00000409154 human ensembl 74_37 +1 known missense c.1336 p.P446S 0.565 NULL NULL - no_errors KIAA1107 HGNC ENSG00000069712 12 0 0 5 3 37.5 H6PD 0 genome.wustl.edu 37 1 9324910 9324910 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 9324910 9324910 C T SNP H6PD ENST00000377403 human ensembl 74_37 +1 known silent c.2358 p.Y786 0.022 tigrfam_6-phosphogluconolactonase_DevB pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB - no_errors H6PD HGNC ENSG00000049239 36 0 0 18 5 21.7391 FAM69A 0 genome.wustl.edu 37 1 93309348 93309348 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 93309348 93309348 G A SNP FAM69A ENST00000370310 human ensembl 74_37 -1 known silent c.879 p.C293 0.995 pfam_FAM69_kinase_dom pfam_FAM69_kinase_dom - no_errors FAM69A HGNC ENSG00000154511 10 0 0 8 5 38.4615 MTF2 0 genome.wustl.edu 37 1 93584943 93584943 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 93584943 93584943 G A SNP MTF2 ENST00000370298 human ensembl 74_37 +1 known missense c.782 p.R261H 1.000 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MTF2 HGNC ENSG00000143033 51 0 0 34 12 26.087 FNBP1L 0 genome.wustl.edu 37 1 94001888 94001888 + Splice_Site SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 94001888 94001888 G A SNP FNBP1L ENST00000271234 human ensembl 74_37 +1 known splice_site c.991-1 e10-1 1.000 - - - no_errors FNBP1L HGNC ENSG00000137942 12 0 0 8 3 27.2727 BCAR3 0 genome.wustl.edu 37 1 94140374 94140374 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 94140374 94140374 C T SNP BCAR3 ENST00000260502 human ensembl 74_37 -1 known missense c.113 p.R38H 0.001 NULL pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors BCAR3 HGNC ENSG00000137936 41 0 0 41 4 8.88889 GCLM 0 genome.wustl.edu 37 1 94360188 94360188 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 94360188 94360188 T C SNP GCLM ENST00000370238 human ensembl 74_37 -1 known missense c.637 p.T213A 1.000 superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom - no_errors GCLM HGNC ENSG00000023909 105 0 0 68 28 29.1667 LPPR5 0 genome.wustl.edu 37 1 99380468 99380468 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 99380468 99380468 G A SNP LPPR5 ENST00000263177 human ensembl 74_37 -1 known silent c.807 p.C269 0.998 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_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 LPPR5 Uniprot_gn ENSG00000117598 170 0 0 153 11 6.70732 LOXL4 0 genome.wustl.edu 37 10 100021879 100021879 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 100021879 100021879 A G SNP LOXL4 ENST00000260702 human ensembl 74_37 -1 known silent c.369 p.S123 0.812 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 LOXL4 HGNC ENSG00000138131 42 0 0 19 10 34.4828 PYROXD2 0 genome.wustl.edu 37 10 100155209 100155209 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 100155209 100155209 C T SNP PYROXD2 ENST00000370575 human ensembl 74_37 -1 known missense c.626 p.G209D 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase - no_errors PYROXD2 HGNC ENSG00000119943 81 0 0 45 18 28.5714 GOT1 0 genome.wustl.edu 37 10 101157412 101157412 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 101157412 101157412 C T SNP GOT1 ENST00000370508 human ensembl 74_37 -1 known silent c.1134 p.K378 0.999 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,prints_Asp_trans - no_errors GOT1 HGNC ENSG00000120053 91 0 0 58 21 26.5823 ABCC2 0 genome.wustl.edu 37 10 101560202 101560202 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 101560202 101560202 C T SNP ABCC2 ENST00000370449 human ensembl 74_37 +1 known missense c.1091 p.A364V 0.959 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 316 0 0 244 13 5.05837 DNMBP 0 genome.wustl.edu 37 10 101639731 101639731 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 101639731 101639731 G A SNP DNMBP ENST00000342239 human ensembl 74_37 -1 known missense c.4457 p.T1486M 0.000 NULL pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors DNMBP HGNC ENSG00000107554 97 0 0 65 7 9.72222 PKD2L1 0 genome.wustl.edu 37 10 102054822 102054822 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 102054822 102054822 C T SNP PKD2L1 ENST00000318222 human ensembl 74_37 -1 known missense c.1415 p.R472H 1.000 pfam_PKD1_2_channel,pfam_Ion_trans_dom pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2L1 HGNC ENSG00000107593 91 0 0 64 22 25.5814 BTRC 0 genome.wustl.edu 37 10 103294488 103294488 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 103294488 103294488 C T SNP BTRC ENST00000370187 human ensembl 74_37 +1 known missense c.1168 p.R390C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Beta-TrCP_D,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 BTRC HGNC ENSG00000166167 175 0 0 111 41 26.9737 PPRC1 0 genome.wustl.edu 37 10 103899333 103899333 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 103899333 103899333 C T SNP PPRC1 ENST00000278070 human ensembl 74_37 +1 known silent c.1068 p.G356 0.540 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC ENSG00000148840 113 1 0.877193 92 6 6.12245 GBF1 0 genome.wustl.edu 37 10 104119942 104119942 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 104119942 104119942 C T SNP GBF1 ENST00000369983 human ensembl 74_37 +1 known silent c.1179 p.G393 0.922 superfamily_ARM-type_fold pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors GBF1 HGNC ENSG00000107862 340 0 0 247 86 25.8258 GTPBP4 0 genome.wustl.edu 37 10 1043150 1043150 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 1043150 1043150 C T SNP GTPBP4 ENST00000360803 human ensembl 74_37 +1 known missense c.463 p.R155C 1.000 superfamily_P-loop_NTPase pfam_NOG1_Rossman_fold_dom,pfam_NOG_C,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,superfamily_P-loop_NTPase,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors GTPBP4 HGNC ENSG00000107937 224 0 0 173 61 26.0684 CNNM2 0 genome.wustl.edu 37 10 104679242 104679242 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 104679242 104679242 C T SNP CNNM2 ENST00000369878 human ensembl 74_37 +1 known silent c.1005 p.D335 1.000 pfam_DUF21 pfam_DUF21,superfamily_cNMP-bd-like - no_errors CNNM2 HGNC ENSG00000148842 54 0 0 28 8 22.2222 TAF5 0 genome.wustl.edu 37 10 105147784 105147784 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 105147784 105147784 G A SNP TAF5 ENST00000369839 human ensembl 74_37 +1 known missense c.2207 p.R736Q 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TAF5 HGNC ENSG00000148835 126 0 0 100 7 6.54206 CALHM2 0 genome.wustl.edu 37 10 105209370 105209370 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 105209370 105209370 G A SNP CALHM2 ENST00000260743 human ensembl 74_37 -1 known missense c.329 p.A110V 0.887 NULL NULL - no_errors CALHM2 HGNC ENSG00000138172 51 0 0 35 8 18.6047 NEURL 0 genome.wustl.edu 37 10 105331403 105331403 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 105331403 105331403 C T SNP NEURL ENST00000369780 human ensembl 74_37 +1 known missense c.473 p.P158L 1.000 smart_Neu_Z,pfscan_Neu_Z pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z,pfscan_Znf_RING - no_errors NEURL HGNC ENSG00000107954 26 0 0 7 4 36.3636 ENSG00000260461 0 genome.wustl.edu 37 10 105639235 105639235 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 105639235 105639235 G A SNP ENSG00000260461 ENST00000568017 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-541N10.3 Clone_based_vega_gene ENSG00000260461 12 0 0 4 3 42.8571 WDR96 0 genome.wustl.edu 37 10 105967430 105967430 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 105967430 105967430 C T SNP WDR96 ENST00000357060 human ensembl 74_37 -1 known silent c.888 p.S296 0.000 superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu - no_errors WDR96 HGNC ENSG00000197748 87 0 0 74 8 9.7561 CCDC147 0 genome.wustl.edu 37 10 106130764 106130764 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 106130764 106130764 G A SNP CCDC147 ENST00000369704 human ensembl 74_37 +1 known missense c.1042 p.E348K 0.998 NULL superfamily_Homeodomain-like - no_errors CCDC147 HGNC ENSG00000120051 133 0 0 81 31 27.6786 SORCS3 0 genome.wustl.edu 37 10 106960891 106960891 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 106960891 106960891 T C SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known missense c.2141 p.V714A 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 56 0 0 50 5 9.09091 ACSL5 0 genome.wustl.edu 37 10 114173039 114173039 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 114173039 114173039 C T SNP ACSL5 ENST00000356116 human ensembl 74_37 +1 known nonsense c.1225 p.R409* 0.993 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL5 HGNC ENSG00000197142 135 0 0 115 12 9.44882 HABP2 0 genome.wustl.edu 37 10 115334090 115334090 + Missense_Mutation SNP A A C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 115334090 115334090 A C SNP HABP2 ENST00000351270 human ensembl 74_37 +1 known missense c.149 p.N50T 0.000 NULL pfam_Peptidase_S1,pfam_Kringle,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HABP2 HGNC ENSG00000148702 161 0 0 91 23 20.1754 VWA2 0 genome.wustl.edu 37 10 116045881 116045881 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 116045881 116045881 C T SNP VWA2 ENST00000392982 human ensembl 74_37 +1 known missense c.1181 p.A394V 0.218 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EG-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors VWA2 HGNC ENSG00000165816 48 0 0 31 11 26.1905 ATRNL1 0 genome.wustl.edu 37 10 117075167 117075167 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 117075167 117075167 G A SNP ATRNL1 ENST00000355044 human ensembl 74_37 +1 known missense c.2958 p.M986I 0.368 pfam_Plexin_repeat,smart_Plexin-like_fold pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 146 0 0 106 26 19.697 PNLIPRP3 0 genome.wustl.edu 37 10 118215275 118215275 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 118215275 118215275 C T SNP PNLIPRP3 ENST00000369230 human ensembl 74_37 +1 known silent c.498 p.G166 1.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc - no_errors PNLIPRP3 HGNC ENSG00000203837 42 0 0 32 11 25.5814 PNLIPRP3 0 genome.wustl.edu 37 10 118228829 118228829 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 118228829 118228829 C T SNP PNLIPRP3 ENST00000369230 human ensembl 74_37 +1 known missense c.1060 p.R354C 0.972 superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc - no_errors PNLIPRP3 HGNC ENSG00000203837 49 0 0 26 3 10.3448 ENO4 0 genome.wustl.edu 37 10 118639453 118639453 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 118639453 118639453 G A SNP ENO4 ENST00000341276 human ensembl 74_37 +1 known missense c.1688 p.R563H 1.000 pfam_Enolase_C pfam_Enolase_C,pfam_Enolase_N - no_errors ENO4 HGNC ENSG00000188316 12 0 0 12 5 29.4118 EIF3A 0 genome.wustl.edu 37 10 120809334 120809334 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 120809334 120809334 G A SNP EIF3A ENST00000369144 human ensembl 74_37 -1 known silent c.2637 p.G879 0.950 NULL pfam_PCI_dom,smart_PCI_dom - no_errors EIF3A HGNC ENSG00000107581 215 0 0 181 10 5.2356 RGS10 0 genome.wustl.edu 37 10 121275054 121275054 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 121275054 121275054 C T SNP RGS10 ENST00000369103 human ensembl 74_37 -1 known silent c.366 p.P122 0.212 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS10 HGNC ENSG00000148908 38 0 0 20 15 42.8571 RGS10 0 genome.wustl.edu 37 10 121286870 121286870 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 121286870 121286870 G A SNP RGS10 ENST00000369103 human ensembl 74_37 -1 known missense c.116 p.A39V 0.991 superfamily_Regulat_G_prot_signal_superfam,prints_RGS_dom pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS10 HGNC ENSG00000148908 49 0 0 36 12 25 DHTKD1 0 genome.wustl.edu 37 10 12136162 12136162 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 12136162 12136162 G A SNP DHTKD1 ENST00000263035 human ensembl 74_37 +1 known missense c.1250 p.R417H 1.000 pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors DHTKD1 HGNC ENSG00000181192 67 0 0 54 15 21.7391 MCMBP 0 genome.wustl.edu 37 10 121591566 121591566 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 121591566 121591566 C T SNP MCMBP ENST00000360003 human ensembl 74_37 -1 known missense c.1760 p.S587N 1.000 pfam_MCM_complex-bd pfam_MCM_complex-bd - no_errors MCMBP HGNC ENSG00000197771 99 0 0 86 7 7.52688 SEC23IP 0 genome.wustl.edu 37 10 121658326 121658326 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 121658326 121658326 G A SNP SEC23IP ENST00000369075 human ensembl 74_37 +1 known missense c.551 p.R184H 1.000 NULL pfam_DDHD,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD - no_errors SEC23IP HGNC ENSG00000107651 80 0 0 58 14 19.4444 CDC123 0 genome.wustl.edu 37 10 12292370 12292370 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 12292370 12292370 G A SNP CDC123 ENST00000498747 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CDC123 HGNC ENSG00000151465 30 0 0 14 12 46.1538 TACC2 0 genome.wustl.edu 37 10 123846012 123846012 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 123846012 123846012 C T SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known missense c.3997 p.P1333S 0.134 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 37 0 0 37 5 11.9048 HTRA1 0 genome.wustl.edu 37 10 124268280 124268280 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 124268280 124268280 G A SNP HTRA1 ENST00000368984 human ensembl 74_37 +1 known missense c.1114 p.A372T 1.000 pfscan_PDZ pfam_Peptidase_S1,pfam_PDZ,pfam_Kazal_dom,pfam_IGFBP-like,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA1 HGNC ENSG00000166033 85 0 0 70 22 23.913 IKZF5 0 genome.wustl.edu 37 10 124757923 124757923 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 124757923 124757923 C T SNP IKZF5 ENST00000479103 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors IKZF5 HGNC ENSG00000095574 23 0 0 15 7 31.8182 ACADSB 0 genome.wustl.edu 37 10 124800157 124800157 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 124800157 124800157 C T SNP ACADSB ENST00000358776 human ensembl 74_37 +1 known missense c.479 p.A160V 1.000 pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADSB HGNC ENSG00000196177 97 0 0 92 7 7.07071 CPXM2 0 genome.wustl.edu 37 10 125528124 125528124 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 125528124 125528124 C T SNP CPXM2 ENST00000241305 human ensembl 74_37 -1 known missense c.1217 p.R406H 1.000 pfam_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 63 0 0 45 13 22.4138 CHST15 0 genome.wustl.edu 37 10 125780848 125780848 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 125780848 125780848 T C SNP CHST15 ENST00000346248 human ensembl 74_37 -1 known missense c.1271 p.Q424R 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors CHST15 HGNC ENSG00000182022 41 0 0 16 12 42.8571 ZRANB1 0 genome.wustl.edu 37 10 126631374 126631374 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 126631374 126631374 T C SNP ZRANB1 ENST00000359653 human ensembl 74_37 +1 known silent c.312 p.C104 0.976 smart_Znf_RanBP2,pfscan_Znf_RanBP2 pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2 - no_errors ZRANB1 HGNC ENSG00000019995 120 0 0 99 14 12.3894 ZRANB1 0 genome.wustl.edu 37 10 126671767 126671767 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 126671767 126671767 G A SNP ZRANB1 ENST00000359653 human ensembl 74_37 +1 known silent c.1572 p.T524 0.940 pfam_OTU,pfscan_OTU pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2 - no_errors ZRANB1 HGNC ENSG00000019995 111 0 0 82 8 8.88889 CTBP2 0 genome.wustl.edu 37 10 126691653 126691653 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 126691653 126691653 G A SNP CTBP2 ENST00000309035 human ensembl 74_37 -1 known silent c.1854 p.G618 0.118 pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC ENSG00000175029 41 0 0 40 5 11.1111 CTBP2 0 genome.wustl.edu 37 10 126715433 126715433 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 126715433 126715433 G A SNP CTBP2 ENST00000309035 human ensembl 74_37 -1 known missense c.896 p.A299V 0.959 NULL pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC ENSG00000175029 31 0 0 20 9 31.0345 C10orf137 0 genome.wustl.edu 37 10 127414270 127414270 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 127414270 127414270 G A SNP C10orf137 ENST00000356792 human ensembl 74_37 +1 known missense c.655 p.A219T 0.999 NULL NULL - no_errors C10orf137 HGNC ENSG00000107938 48 0 0 34 9 20.9302 C10orf137 0 genome.wustl.edu 37 10 127424342 127424342 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 127424342 127424342 C T SNP C10orf137 ENST00000356792 human ensembl 74_37 +1 known missense c.1627 p.P543S 0.990 NULL NULL - no_errors C10orf137 HGNC ENSG00000107938 90 0 0 52 15 22.3881 DHX32 0 genome.wustl.edu 37 10 127540971 127540971 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 127540971 127540971 C T SNP DHX32 ENST00000284690 human ensembl 74_37 -1 known silent c.1242 p.T414 0.998 superfamily_P-loop_NTPase pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DHX32 HGNC ENSG00000089876 119 0 0 84 14 14.2857 CAMK1D 0 genome.wustl.edu 37 10 12833171 12833171 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 12833171 12833171 G A SNP CAMK1D ENST00000378847 human ensembl 74_37 +1 known missense c.580 p.A194T 0.999 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMK1D HGNC ENSG00000183049 116 1 0.854701 69 17 19.7674 DOCK1 0 genome.wustl.edu 37 10 128823028 128823028 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 128823028 128823028 G A SNP DOCK1 ENST00000280333 human ensembl 74_37 +1 known missense c.1469 p.R490H 1.000 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 24 0 0 7 4 36.3636 FAM196A 0 genome.wustl.edu 37 10 128973888 128973888 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 128973888 128973888 C T SNP FAM196A ENST00000522781 human ensembl 74_37 -1 known missense c.772 p.A258T 0.000 NULL NULL - no_errors FAM196A HGNC ENSG00000188916 21 0 0 12 4 25 MKI67 0 genome.wustl.edu 37 10 129905990 129905990 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 129905990 129905990 G A SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.4114 p.P1372S 0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 83 0 0 72 5 6.49351 GLRX3 0 genome.wustl.edu 37 10 131973264 131973264 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 131973264 131973264 C T SNP GLRX3 ENST00000331244 human ensembl 74_37 +1 known missense c.868 p.R290W 1.000 pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,tigrfam_Monothiol_GRX-rel pfam_Glutaredoxin,pfam_Thioredoxin_domain,pfam_mRNA_splic_U5,pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,tigrfam_Monothiol_GRX-rel - no_errors GLRX3 HGNC ENSG00000108010 81 0 0 42 22 34.375 MCM10 0 genome.wustl.edu 37 10 13213246 13213246 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 13213246 13213246 C T SNP MCM10 ENST00000484800 human ensembl 74_37 +1 known missense c.332 p.T111M 0.468 NULL pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG - no_errors MCM10 HGNC ENSG00000065328 50 0 0 39 4 9.30233 TCERG1L 0 genome.wustl.edu 37 10 132944908 132944908 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 132944908 132944908 C T SNP TCERG1L ENST00000368642 human ensembl 74_37 -1 known silent c.1050 p.T350 0.810 pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1L HGNC ENSG00000176769 98 0 0 60 29 32.5843 BNIP3 0 genome.wustl.edu 37 10 133784260 133784260 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 133784260 133784260 C T SNP BNIP3 ENST00000368636 human ensembl 74_37 -1 known missense c.421 p.A141T 0.064 pfam_BNIP3 pfam_BNIP3 - no_errors BNIP3 HGNC ENSG00000176171 58 0 0 42 4 8.69565 JAKMIP3 0 genome.wustl.edu 37 10 133930823 133930823 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 133930823 133930823 C T SNP JAKMIP3 ENST00000298622 human ensembl 74_37 +1 known silent c.378 p.G126 0.021 NULL NULL - no_errors JAKMIP3 HGNC ENSG00000188385 62 0 0 32 13 28.8889 JAKMIP3 0 genome.wustl.edu 37 10 133954021 133954021 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 133954021 133954021 G A SNP JAKMIP3 ENST00000298622 human ensembl 74_37 +1 known missense c.1411 p.V471I 0.970 NULL NULL - no_errors JAKMIP3 HGNC ENSG00000188385 36 0 0 4 8 66.6667 LRRC27 0 genome.wustl.edu 37 10 134165170 134165170 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 134165170 134165170 C T SNP LRRC27 ENST00000392638 human ensembl 74_37 +1 known nonsense c.1081 p.R361* 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC27 HGNC ENSG00000148814 199 0 0 153 16 9.46746 INPP5A 0 genome.wustl.edu 37 10 134463965 134463965 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 134463965 134463965 C T SNP INPP5A ENST00000368594 human ensembl 74_37 +1 known nonsense c.262 p.R88* 0.998 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5A HGNC ENSG00000068383 319 1 0.3125 249 20 7.43494 KNDC1 0 genome.wustl.edu 37 10 135010567 135010567 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 135010567 135010567 C T SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known silent c.1740 p.C580 0.000 superfamily_Kinase-like_dom,smart_KIND 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 35 0 0 22 10 31.25 KNDC1 0 genome.wustl.edu 37 10 135038246 135038246 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 135038246 135038246 A G SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known missense c.5108 p.Y1703C 0.965 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 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 40 0 0 23 6 20.6897 FRG2B 0 genome.wustl.edu 37 10 135439043 135439043 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 135439043 135439043 G A SNP FRG2B ENST00000425520 human ensembl 74_37 -1 known missense c.397 p.H133Y 0.143 NULL NULL - no_errors FRG2B HGNC ENSG00000225899 121 0 0 54 26 32.5 FAM188A 0 genome.wustl.edu 37 10 15838155 15838155 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 15838155 15838155 G A SNP FAM188A ENST00000277632 human ensembl 74_37 -1 known missense c.899 p.A300V 1.000 NULL NULL - no_errors FAM188A HGNC ENSG00000148481 154 1 0.645161 133 7 5 CUBN 0 genome.wustl.edu 37 10 16970170 16970170 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 16970170 16970170 G A SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.6257 p.A2086V 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 75 0 0 69 16 18.8235 VIM 0 genome.wustl.edu 37 10 17272805 17272805 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 17272805 17272805 C T SNP VIM ENST00000485947 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors VIM HGNC ENSG00000026025 33 0 0 13 6 31.5789 VIM 0 genome.wustl.edu 37 10 17277251 17277251 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 17277251 17277251 C T SNP VIM ENST00000224237 human ensembl 74_37 +1 known silent c.1092 p.R364 0.991 pfam_IF pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors VIM HGNC ENSG00000026025 127 0 0 101 8 7.33945 CACNB2 0 genome.wustl.edu 37 10 18803962 18803962 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 18803962 18803962 C T SNP CACNB2 ENST00000352115 human ensembl 74_37 +1 known missense c.724 p.R242W 1.000 superfamily_SH3_domain 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 60 0 0 42 5 10.6383 CACNB2 0 genome.wustl.edu 37 10 18816561 18816561 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 18816561 18816561 G A SNP CACNB2 ENST00000324631 human ensembl 74_37 +1 known missense c.989 p.R330H 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,prints_VDCC_L_bsu 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 142 0 0 95 38 28.5714 ARL5B 0 genome.wustl.edu 37 10 18957477 18957477 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 18957477 18957477 T C SNP ARL5B ENST00000377275 human ensembl 74_37 +1 known silent c.126 p.V42 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL5B HGNC ENSG00000165997 63 0 0 42 11 20.7547 CASC10 0 genome.wustl.edu 37 10 21785730 21785730 + Missense_Mutation SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 21785730 21785730 T A SNP CASC10 ENST00000377113 human ensembl 74_37 -1 known missense c.14 p.E5V 0.305 NULL NULL - no_errors CASC10 HGNC ENSG00000204682 11 0 0 10 4 28.5714 COMMD3 0 genome.wustl.edu 37 10 22606821 22606821 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 22606821 22606821 G T SNP COMMD3 ENST00000376836 human ensembl 74_37 +1 known missense c.148 p.D50Y 1.000 pfam_HCaRG pfam_HCaRG - no_errors COMMD3 HGNC ENSG00000148444 117 0 0 81 21 20.5882 PIP4K2A 0 genome.wustl.edu 37 10 22898568 22898568 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 22898568 22898568 C T SNP PIP4K2A ENST00000376573 human ensembl 74_37 -1 known missense c.223 p.D75N 1.000 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 86 0 0 51 20 28.169 KIAA1217 0 genome.wustl.edu 37 10 24669946 24669946 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 24669946 24669946 C T SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known missense c.503 p.A168V 0.999 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 59 0 0 33 12 26.6667 KIAA1217 0 genome.wustl.edu 37 10 24816953 24816953 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 24816953 24816953 C T SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known missense c.2987 p.A996V 1.000 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 180 0 0 91 40 30.5344 GPR158 0 genome.wustl.edu 37 10 25887280 25887280 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 25887280 25887280 G A SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.2725 p.A909T 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 273 0 0 240 16 6.25 GPR158 0 genome.wustl.edu 37 10 25888009 25888009 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 25888009 25888009 C T SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.3454 p.R1152C 0.985 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 107 0 0 65 15 18.75 ANKRD26 0 genome.wustl.edu 37 10 27301829 27301829 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 27301829 27301829 C T SNP ANKRD26 ENST00000436985 human ensembl 74_37 -1 known missense c.4983 p.M1661I 0.000 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 118 0 0 95 8 7.76699 PTCHD3 0 genome.wustl.edu 37 10 27702400 27702400 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 27702400 27702400 C T SNP PTCHD3 ENST00000438700 human ensembl 74_37 -1 known silent c.780 p.A260 0.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 37 0 0 16 7 30.4348 PTCHD3 0 genome.wustl.edu 37 10 27702950 27702950 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 27702950 27702950 C T SNP PTCHD3 ENST00000438700 human ensembl 74_37 -1 known missense c.230 p.R77Q 0.000 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 23 0 0 14 6 30 MPP7 0 genome.wustl.edu 37 10 28358714 28358714 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 28358714 28358714 G A SNP MPP7 ENST00000337532 human ensembl 74_37 -1 known silent c.1191 p.G397 0.159 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,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,prints_SH3_domain - no_errors MPP7 HGNC ENSG00000150054 50 0 0 26 13 33.3333 LYZL1 0 genome.wustl.edu 37 10 29580930 29580930 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 29580930 29580930 G A SNP LYZL1 ENST00000375500 human ensembl 74_37 +1 known missense c.272 p.G91E 1.000 pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22 pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors LYZL1 HGNC ENSG00000120563 101 0 0 71 21 22.8261 MAP3K8 0 genome.wustl.edu 37 10 30748327 30748327 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 30748327 30748327 G A SNP MAP3K8 ENST00000263056 human ensembl 74_37 +1 known silent c.1170 p.P390 0.841 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 MAP3K8 HGNC ENSG00000107968 60 0 0 43 13 23.2143 ZNF438 0 genome.wustl.edu 37 10 31137485 31137485 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 31137485 31137485 G A SNP ZNF438 ENST00000361310 human ensembl 74_37 -1 known nonsense c.1849 p.R617* 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF438 HGNC ENSG00000183621 77 0 0 70 5 6.66667 PFKP 0 genome.wustl.edu 37 10 3124630 3124630 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 3124630 3124630 G A SNP PFKP ENST00000381125 human ensembl 74_37 +1 known missense c.163 p.A55T 0.999 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKP HGNC ENSG00000067057 60 0 0 49 10 16.9492 PFKP 0 genome.wustl.edu 37 10 3154433 3154433 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 3154433 3154433 C T SNP PFKP ENST00000381125 human ensembl 74_37 +1 known missense c.1109 p.A370V 1.000 superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKP HGNC ENSG00000067057 99 0 0 86 6 6.52174 PITRM1 0 genome.wustl.edu 37 10 3189835 3189835 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 3189835 3189835 C T SNP PITRM1 ENST00000380989 human ensembl 74_37 -1 known missense c.2167 p.A723T 1.000 pfam_Peptidase_M16C_assoc,superfamily_Metalloenz_LuxS/M16 pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16 - no_errors PITRM1 HGNC ENSG00000107959 84 0 0 67 7 9.45946 NRP1 0 genome.wustl.edu 37 10 33496560 33496560 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 33496560 33496560 C T SNP NRP1 ENST00000265371 human ensembl 74_37 -1 known missense c.1699 p.E567K 1.000 pirsf_Neuropilin,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 pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP1 HGNC ENSG00000099250 180 0 0 127 43 25.2941 PARD3 0 genome.wustl.edu 37 10 34626277 34626277 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 34626277 34626277 C T SNP PARD3 ENST00000374789 human ensembl 74_37 -1 known missense c.2495 p.R832H 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 59 0 0 36 14 28 CUL2 0 genome.wustl.edu 37 10 35317808 35317808 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 35317808 35317808 G T SNP CUL2 ENST00000537177 human ensembl 74_37 -1 known missense c.1604 p.A535E 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 CUL2 HGNC ENSG00000108094 40 0 0 20 10 33.3333 HSD17B7P2 0 genome.wustl.edu 37 10 38651206 38651206 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 38651206 38651206 C T SNP HSD17B7P2 ENST00000494540 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSD17B7P2 HGNC ENSG00000099251 107 0 0 68 16 19.0476 HSD17B7P2 0 genome.wustl.edu 37 10 38651254 38651254 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 38651254 38651254 G A SNP HSD17B7P2 ENST00000494540 human ensembl 74_37 +1 known rna NULL NULL 0.985 - - - no_errors HSD17B7P2 HGNC ENSG00000099251 98 0 0 50 14 21.875 LOC441666 0 genome.wustl.edu 37 10 42832378 42832378 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 42832378 42832378 C T SNP LOC441666 ENST00000609841 human ensembl 74_37 -1 known rna NULL NULL 0.994 - - - no_errors RP11-313J2.1 Clone_based_vega_gene ENSG00000215146 21 0 0 20 5 20 DIP2C 0 genome.wustl.edu 37 10 430000 430000 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 430000 430000 G A SNP DIP2C ENST00000280886 human ensembl 74_37 -1 known nonsense c.1843 p.R615* 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 61 0 0 45 15 25 BMS1 0 genome.wustl.edu 37 10 43326400 43326400 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 43326400 43326400 G A SNP BMS1 ENST00000374518 human ensembl 74_37 +1 known silent c.3705 p.E1235 0.979 NULL pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AARP2CN - no_errors BMS1 HGNC ENSG00000165733 30 0 0 22 6 21.4286 RET 0 genome.wustl.edu 37 10 43606686 43606686 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 43606686 43606686 C T SNP RET ENST00000355710 human ensembl 74_37 +1 known missense c.1295 p.A432V 0.691 pirsf_Tyr_kinase_Ret_rcpt,superfamily_Cadherin-like pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 77 0 0 52 29 35.8025 ZNF485 0 genome.wustl.edu 37 10 44111987 44111987 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 44111987 44111987 G A SNP ZNF485 ENST00000361807 human ensembl 74_37 +1 known missense c.496 p.A166T 0.008 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 ZNF485 HGNC ENSG00000198298 139 1 0.714286 87 17 16.3462 C10orf10 0 genome.wustl.edu 37 10 45467036 45467036 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 45467036 45467036 C T SNP C10orf10 ENST00000496638 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors C10orf10 HGNC ENSG00000165507 12 0 0 10 5 33.3333 RASSF4 0 genome.wustl.edu 37 10 45480314 45480314 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 45480314 45480314 G A SNP RASSF4 ENST00000334940 human ensembl 74_37 +1 known missense c.454 p.A152T 1.000 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom - no_errors RASSF4 HGNC ENSG00000107551 73 0 0 45 9 16.6667 RASSF4 0 genome.wustl.edu 37 10 45486467 45486467 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 45486467 45486467 G A SNP RASSF4 ENST00000334940 human ensembl 74_37 +1 known missense c.784 p.A262T 0.998 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom - no_errors RASSF4 HGNC ENSG00000107551 98 0 0 48 6 11.1111 FAM21C 0 genome.wustl.edu 37 10 46224380 46224380 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 46224380 46224380 A G SNP FAM21C ENST00000374362 human ensembl 74_37 +1 known missense c.197 p.D66G 1.000 NULL NULL - no_errors FAM21C HGNC ENSG00000172661 201 0 0 171 20 10.4712 GPRIN2 0 genome.wustl.edu 37 10 46999760 46999760 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 46999760 46999760 G A SNP GPRIN2 ENST00000374314 human ensembl 74_37 +1 known missense c.880 p.A294T 0.993 NULL NULL - no_errors GPRIN2 HGNC ENSG00000204175 95 0 0 88 10 10.2041 NPY4R 0 genome.wustl.edu 37 10 47086901 47086901 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 47086901 47086901 G A SNP NPY4R ENST00000374312 human ensembl 74_37 +1 known missense c.118 p.V40M 0.000 prints_NPY4_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPY4R HGNC ENSG00000204174 175 1 0.568182 129 17 11.6438 NPY4R 0 genome.wustl.edu 37 10 47087502 47087502 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 47087502 47087502 G A SNP NPY4R ENST00000374312 human ensembl 74_37 +1 known missense c.719 p.R240H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPY4R HGNC ENSG00000204174 158 0 0 127 9 6.61765 RBP3 0 genome.wustl.edu 37 10 48389508 48389508 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 48389508 48389508 G A SNP RBP3 ENST00000224600 human ensembl 74_37 -1 known missense c.1370 p.A457V 0.199 pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 43 0 0 20 11 35.4839 GDF2 0 genome.wustl.edu 37 10 48414241 48414241 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 48414241 48414241 G A SNP GDF2 ENST00000249598 human ensembl 74_37 -1 known silent c.627 p.S209 0.105 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF2 HGNC ENSG00000128802 71 0 0 32 10 23.8095 ARHGAP22 0 genome.wustl.edu 37 10 49654532 49654532 + Missense_Mutation SNP C C G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 49654532 49654532 C G SNP ARHGAP22 ENST00000417912 human ensembl 74_37 -1 known missense c.2047 p.E683Q 0.999 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP22 HGNC ENSG00000128805 99 0 0 91 7 7.14286 ERCC6 0 genome.wustl.edu 37 10 50701183 50701183 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 50701183 50701183 C T SNP ERCC6 ENST00000355832 human ensembl 74_37 -1 known missense c.1801 p.G601S 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 56 0 0 37 14 27.451 PGBD3 0 genome.wustl.edu 37 10 50723521 50723521 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 50723521 50723521 C T SNP PGBD3 ENST00000603152 human ensembl 74_37 -1 known missense c.3044 p.R1015H 0.034 NULL NULL - no_errors PGBD3 HGNC ENSG00000243251 138 0 0 90 26 22.4138 SLC18A3 0 genome.wustl.edu 37 10 50819068 50819068 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 50819068 50819068 G A SNP SLC18A3 ENST00000374115 human ensembl 74_37 +1 known silent c.282 p.T94 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A3 HGNC ENSG00000187714 31 0 0 17 7 29.1667 SLC18A3 0 genome.wustl.edu 37 10 50819793 50819793 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 50819793 50819793 T C SNP SLC18A3 ENST00000374115 human ensembl 74_37 +1 known missense c.1007 p.V336A 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A3 HGNC ENSG00000187714 52 0 0 29 10 25.641 ENSG00000226200 0 genome.wustl.edu 37 10 52390830 52390830 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 52390830 52390830 G A SNP ENSG00000226200 ENST00000443374 human ensembl 74_37 +1 known rna NULL NULL 0.993 - - - no_errors RP11-50E11.3 Clone_based_vega_gene ENSG00000226200 17 0 0 13 8 38.0952 TUBAL3 0 genome.wustl.edu 37 10 5435974 5435974 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 5435974 5435974 C T SNP TUBAL3 ENST00000380419 human ensembl 74_37 -1 known missense c.847 p.V283I 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBAL3 HGNC ENSG00000178462 136 0 0 127 8 5.92593 PCDH15 0 genome.wustl.edu 37 10 55582282 55582282 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 55582282 55582282 G A SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.5204 p.A1735V 0.999 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 65 0 0 39 8 17.0213 FAM208B 0 genome.wustl.edu 37 10 5788414 5788414 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 5788414 5788414 G A SNP FAM208B ENST00000328090 human ensembl 74_37 +1 known silent c.3030 p.V1010 0.000 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 55 0 0 52 29 35.8025 ANK3 0 genome.wustl.edu 37 10 61844960 61844960 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 61844960 61844960 G A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.3800 p.T1267M 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 49 0 0 43 8 15.6863 ZNF365 0 genome.wustl.edu 37 10 64136647 64136647 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 64136647 64136647 T C SNP ZNF365 ENST00000410046 human ensembl 74_37 +1 known missense c.695 p.L232P 1.000 NULL NULL - no_errors ZNF365 HGNC ENSG00000138311 140 0 0 105 10 8.69565 EGR2 0 genome.wustl.edu 37 10 64575694 64575694 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 64575694 64575694 G A SNP EGR2 ENST00000242480 human ensembl 74_37 -1 known silent c.96 p.A32 1.000 NULL pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR2 HGNC ENSG00000122877 102 0 0 63 5 7.35294 JMJD1C 0 genome.wustl.edu 37 10 64979728 64979728 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 64979728 64979728 G A SNP JMJD1C ENST00000399262 human ensembl 74_37 -1 known silent c.463 p.L155 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 116 0 0 85 23 21.2963 TET1 0 genome.wustl.edu 37 10 70446141 70446141 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 70446141 70446141 G A SNP TET1 ENST00000373644 human ensembl 74_37 +1 known missense c.5081 p.R1694H 1.000 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 76 0 0 47 11 18.9655 STOX1 0 genome.wustl.edu 37 10 70644170 70644170 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 70644170 70644170 G A SNP STOX1 ENST00000298596 human ensembl 74_37 +1 known silent c.618 p.L206 0.002 NULL pfam_Storkhead-box_winged-helix - no_errors STOX1 HGNC ENSG00000165730 154 0 0 84 30 26.3158 STOX1 0 genome.wustl.edu 37 10 70644504 70644504 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 70644504 70644504 C T SNP STOX1 ENST00000298596 human ensembl 74_37 +1 known missense c.952 p.R318C 1.000 NULL pfam_Storkhead-box_winged-helix - no_errors STOX1 HGNC ENSG00000165730 130 0 0 102 7 6.42202 HKDC1 0 genome.wustl.edu 37 10 71017128 71017128 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 71017128 71017128 A G SNP HKDC1 ENST00000354624 human ensembl 74_37 +1 known missense c.1978 p.T660A 1.000 pfam_Hexokinase_N,prints_Hexokinase pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HKDC1 HGNC ENSG00000156510 148 0 0 134 10 6.94444 TACR2 0 genome.wustl.edu 37 10 71174709 71174709 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 71174709 71174709 C T SNP TACR2 ENST00000373306 human ensembl 74_37 -1 known silent c.579 p.T193 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK2_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK2_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors TACR2 HGNC ENSG00000075073 43 0 0 35 8 18.6047 TSPAN15 0 genome.wustl.edu 37 10 71265925 71265925 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 71265925 71265925 G A SNP TSPAN15 ENST00000373290 human ensembl 74_37 +1 known missense c.664 p.A222T 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN15 HGNC ENSG00000099282 75 0 0 72 22 23.4043 SFMBT2 0 genome.wustl.edu 37 10 7247845 7247845 + Missense_Mutation SNP A A T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 7247845 7247845 A T SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known missense c.1376 p.M459K 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 81 0 0 58 5 7.93651 SFMBT2 0 genome.wustl.edu 37 10 7409677 7409677 + Missense_Mutation SNP C C G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 7409677 7409677 C G SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known missense c.370 p.V124L 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 38 0 0 27 10 27.027 MCU 0 genome.wustl.edu 37 10 74628488 74628488 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 74628488 74628488 C T SNP MCU ENST00000373053 human ensembl 74_37 +1 known missense c.524 p.T175M 0.998 pfam_Coiled-coil-dom_prot_109_C pfam_Coiled-coil-dom_prot_109_C - no_errors MCU HGNC ENSG00000156026 141 0 0 83 17 17 MCU 0 genome.wustl.edu 37 10 74631233 74631233 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 74631233 74631233 G A SNP MCU ENST00000373053 human ensembl 74_37 +1 known silent c.756 p.R252 1.000 pfam_Coiled-coil-dom_prot_109_C pfam_Coiled-coil-dom_prot_109_C - no_errors MCU HGNC ENSG00000156026 163 1 0.609756 106 42 28.3784 NUDT13 0 genome.wustl.edu 37 10 74879836 74879836 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 74879836 74879836 G A SNP NUDT13 ENST00000357321 human ensembl 74_37 +1 known silent c.144 p.A48 0.467 pfam_NADH_PPase-like_N pfam_NUDIX_hydrolase_dom,pfam_NADH_PPase-like_N,pfam_Znr_NADH_PPase,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT13 HGNC ENSG00000166321 126 1 0.787402 95 11 10.3774 ECD 0 genome.wustl.edu 37 10 74899444 74899444 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 74899444 74899444 T C SNP ECD ENST00000430082 human ensembl 74_37 -1 known missense c.1278 p.I426M 0.018 pfam_SGT1 pfam_SGT1 - no_errors ECD HGNC ENSG00000122882 326 0 0 265 20 7.01754 ECD 0 genome.wustl.edu 37 10 74916042 74916042 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 74916042 74916042 C T SNP ECD ENST00000430082 human ensembl 74_37 -1 known missense c.581 p.R194H 1.000 pfam_SGT1 pfam_SGT1 - no_errors ECD HGNC ENSG00000122882 111 0 0 83 5 5.68182 TTC18 0 genome.wustl.edu 37 10 75071669 75071669 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 75071669 75071669 C T SNP TTC18 ENST00000310715 human ensembl 74_37 -1 known missense c.1297 p.A433T 0.040 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC18 HGNC ENSG00000156042 135 0 0 109 8 6.83761 ITIH5 0 genome.wustl.edu 37 10 7605039 7605039 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 7605039 7605039 C T SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known missense c.2836 p.A946T 0.000 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 306 0 0 186 57 23.4568 ADK 0 genome.wustl.edu 37 10 76287827 76287827 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 76287827 76287827 C T SNP ADK ENST00000467840 human ensembl 74_37 +1 known rna NULL NULL 0.979 - - - no_errors ADK HGNC ENSG00000156110 56 0 0 40 9 18.3673 DLG5 0 genome.wustl.edu 37 10 79554687 79554687 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 79554687 79554687 C T SNP DLG5 ENST00000372391 human ensembl 74_37 -1 known silent c.5466 p.P1822 0.426 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG5 HGNC ENSG00000151208 27 0 0 24 12 33.3333 NRG3 0 genome.wustl.edu 37 10 83635649 83635649 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 83635649 83635649 C T SNP NRG3 ENST00000404547 human ensembl 74_37 +1 known missense c.553 p.R185W 1.000 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 52 0 0 29 9 23.6842 NRG3 0 genome.wustl.edu 37 10 84745044 84745044 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 84745044 84745044 A G SNP NRG3 ENST00000404547 human ensembl 74_37 +1 known missense c.1846 p.I616V 1.000 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 134 0 0 90 34 27.4194 LRIT1 0 genome.wustl.edu 37 10 86001151 86001151 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 86001151 86001151 C T SNP LRIT1 ENST00000372105 human ensembl 74_37 -1 known nonsense c.45 p.W15* 0.004 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,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 LRIT1 HGNC ENSG00000148602 8 0 0 5 5 50 OPN4 0 genome.wustl.edu 37 10 88416037 88416037 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 88416037 88416037 G A SNP OPN4 ENST00000372071 human ensembl 74_37 +1 known silent c.270 p.T90 0.999 pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN4 HGNC ENSG00000122375 67 0 0 55 4 6.77966 PAPSS2 0 genome.wustl.edu 37 10 89503193 89503193 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 89503193 89503193 A G SNP PAPSS2 ENST00000456849 human ensembl 74_37 +1 known missense c.1286 p.D429G 1.000 pfam_Sulfurylase_cat_dom,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 113 0 0 63 10 13.6986 PTEN 0 genome.wustl.edu 37 10 89717713 89717713 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 89717713 89717713 G A SNP PTEN ENST00000371953 human ensembl 74_37 +1 known silent c.738 p.P246 0.041 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 108 0 0 66 25 27.4725 LIPJ 0 genome.wustl.edu 37 10 90354523 90354523 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 90354523 90354523 T C SNP LIPJ ENST00000371939 human ensembl 74_37 +1 known silent c.429 p.G143 1.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPJ HGNC ENSG00000204022 54 0 0 52 10 16.129 PCGF5 0 genome.wustl.edu 37 10 93024260 93024260 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 93024260 93024260 C T SNP PCGF5 ENST00000336126 human ensembl 74_37 +1 known nonsense c.646 p.R216* 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF5 HGNC ENSG00000180628 155 0 0 82 32 28.0702 TNKS2 0 genome.wustl.edu 37 10 93600363 93600363 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 93600363 93600363 C T SNP TNKS2 ENST00000371627 human ensembl 74_37 +1 known missense c.1573 p.R525C 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS2 HGNC ENSG00000107854 179 0 0 104 31 22.963 BTAF1 0 genome.wustl.edu 37 10 93726433 93726433 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 93726433 93726433 G A SNP BTAF1 ENST00000265990 human ensembl 74_37 +1 known nonsense c.1569 p.W523* 1.000 superfamily_ARM-type_fold pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors BTAF1 HGNC ENSG00000095564 114 0 0 78 23 22.7723 MYOF 0 genome.wustl.edu 37 10 95119595 95119595 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 95119595 95119595 C T SNP MYOF ENST00000359263 human ensembl 74_37 -1 known missense c.3115 p.A1039T 0.610 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors MYOF HGNC ENSG00000138119 110 0 0 77 31 28.7037 PLCE1 0 genome.wustl.edu 37 10 96005833 96005833 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 96005833 96005833 C T SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known silent c.2551 p.L851 1.000 superfamily_Ras_GEF_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 58 0 0 26 13 33.3333 CYP2C18 0 genome.wustl.edu 37 10 96447543 96447543 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 96447543 96447543 G A SNP CYP2C18 ENST00000285979 human ensembl 74_37 +1 known missense c.185 p.G62D 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C18 HGNC ENSG00000108242 180 0 0 116 28 19.4444 CYP2C18 0 genome.wustl.edu 37 10 96495057 96495057 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 96495057 96495057 G T SNP CYP2C18 ENST00000285979 human ensembl 74_37 +1 known missense c.1329 p.M443I 1.000 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 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 CYP2C18 HGNC ENSG00000108242 111 0 0 81 26 24.2991 CYP2C19 0 genome.wustl.edu 37 10 96540303 96540303 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 96540303 96540303 G A SNP CYP2C19 ENST00000371321 human ensembl 74_37 +1 known missense c.529 p.V177M 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 CYP2C19 HGNC ENSG00000165841 160 0 0 129 8 5.83942 CYP2C19 0 genome.wustl.edu 37 10 96602642 96602642 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 96602642 96602642 C A SNP CYP2C19 ENST00000371321 human ensembl 74_37 +1 known missense c.1010 p.P337H 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C19 HGNC ENSG00000165841 120 0 0 73 30 29.1262 ALDH18A1 0 genome.wustl.edu 37 10 97371048 97371048 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 97371048 97371048 C T SNP ALDH18A1 ENST00000371224 human ensembl 74_37 -1 known missense c.2075 p.G692D 1.000 superfamily_Ald_DH/histidinol_DH,pirsf_P5_carboxy_syn,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase 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 189 0 0 152 11 6.74847 ENTPD1 0 genome.wustl.edu 37 10 97605259 97605259 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 97605259 97605259 G A SNP ENTPD1 ENST00000371207 human ensembl 74_37 +1 known missense c.755 p.R252H 0.993 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD1 HGNC ENSG00000138185 188 0 0 153 10 6.13497 CCNJ 0 genome.wustl.edu 37 10 97816981 97816981 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 97816981 97816981 G A SNP CCNJ ENST00000465148 human ensembl 74_37 +1 known silent c.717 p.V239 0.999 pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_C-dom,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNJ HGNC ENSG00000107443 125 0 0 94 25 21.0084 TLL2 0 genome.wustl.edu 37 10 98138803 98138803 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 98138803 98138803 G A SNP TLL2 ENST00000357947 human ensembl 74_37 -1 known silent c.2241 p.C747 0.994 pirsf_BMP_1/tolloid-like,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors TLL2 HGNC ENSG00000095587 83 0 0 56 16 22.2222 C10orf12 0 genome.wustl.edu 37 10 98742563 98742563 + Nonsense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 98742563 98742563 C A SNP C10orf12 ENST00000286067 human ensembl 74_37 +1 known nonsense c.1416 p.C472* 0.000 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 268 0 0 156 46 22.7723 ARHGAP19-SLIT1 0 genome.wustl.edu 37 10 99019239 99019239 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 99019239 99019239 C T SNP ARHGAP19-SLIT1 ENST00000453547 human ensembl 74_37 -1 known missense c.760 p.A254T 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP19-SLIT1 HGNC ENSG00000269891 180 0 0 141 9 6 MMP1 0 genome.wustl.edu 37 11 102665947 102665947 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 102665947 102665947 G A SNP MMP1 ENST00000315274 human ensembl 74_37 -1 known missense c.857 p.A286V 1.000 pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP1 HGNC ENSG00000196611 117 0 0 53 21 28.3784 DYNC2H1 0 genome.wustl.edu 37 11 102987424 102987424 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 102987424 102987424 G A SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known silent c.747 p.L249 0.555 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,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 194 0 0 139 30 17.7515 MUC6 0 genome.wustl.edu 37 11 1031216 1031216 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 1031216 1031216 C T SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.527 p.C176Y 1.000 pfam_VWF_type-D,smart_VWF_type-D 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 10 0 0 6 3 33.3333 AMPD3 0 genome.wustl.edu 37 11 10524314 10524314 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 10524314 10524314 C T SNP AMPD3 ENST00000396553 human ensembl 74_37 +1 known missense c.1889 p.A630V 1.000 pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD3 HGNC ENSG00000133805 204 0 0 150 8 5.06329 AMPD3 0 genome.wustl.edu 37 11 10527345 10527345 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 10527345 10527345 G A SNP AMPD3 ENST00000396553 human ensembl 74_37 +1 known missense c.2218 p.A740T 1.000 pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD3 HGNC ENSG00000133805 104 0 0 71 36 33.6449 GUCY1A2 0 genome.wustl.edu 37 11 106558464 106558464 + Missense_Mutation SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 106558464 106558464 T A SNP GUCY1A2 ENST00000282249 human ensembl 74_37 -1 known missense c.2103 p.E701D 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase 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 GUCY1A2 HGNC ENSG00000152402 124 0 0 72 28 28 ALKBH8 0 genome.wustl.edu 37 11 107381715 107381715 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 107381715 107381715 C T SNP ALKBH8 ENST00000417449 human ensembl 74_37 -1 known silent c.1344 p.R448 0.970 pfam_Methyltransf_11,pfam_Methyltransferase-rel pfam_Methyltransf_11,pfam_AlkB_hom8_N,pfam_Oxoglu/Fe-dep_dioxygenase,pfam_Methyltransferase-rel - no_errors ALKBH8 HGNC ENSG00000137760 10 0 0 7 2 22.2222 ENSG00000268467 0 genome.wustl.edu 37 11 107462667 107462667 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 107462667 107462667 G A SNP ENSG00000268467 ENST00000600612 human ensembl 74_37 +1 known missense c.184 p.A62T 0.104 NULL NULL - no_errors AP000889.3 Clone_based_ensembl_gene ENSG00000268467 11 0 0 8 7 46.6667 CUL5 0 genome.wustl.edu 37 11 107920682 107920682 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 107920682 107920682 C A SNP CUL5 ENST00000393094 human ensembl 74_37 +1 known missense c.300 p.F100L 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL5 HGNC ENSG00000166266 69 0 0 56 26 31.7073 ACAT1 0 genome.wustl.edu 37 11 108013239 108013239 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 108013239 108013239 C T SNP ACAT1 ENST00000265838 human ensembl 74_37 +1 known missense c.902 p.A301V 1.000 superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAT1 HGNC ENSG00000075239 52 0 0 35 8 18.6047 NPAT 0 genome.wustl.edu 37 11 108043647 108043647 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 108043647 108043647 C T SNP NPAT ENST00000278612 human ensembl 74_37 -1 known silent c.2064 p.T688 0.003 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors NPAT HGNC ENSG00000149308 56 0 0 51 17 25 EXPH5 0 genome.wustl.edu 37 11 108409786 108409786 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 108409786 108409786 C A SNP EXPH5 ENST00000265843 human ensembl 74_37 -1 known missense c.408 p.K136N 0.984 NULL superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors EXPH5 HGNC ENSG00000110723 177 0 0 133 26 16.3522 DDX10 0 genome.wustl.edu 37 11 108577481 108577481 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 108577481 108577481 T C SNP DDX10 ENST00000322536 human ensembl 74_37 +1 known silent c.1239 p.G413 0.970 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX10 HGNC ENSG00000178105 217 0 0 153 46 23.1156 ZC3H12C 0 genome.wustl.edu 37 11 110035523 110035523 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 110035523 110035523 G A SNP ZC3H12C ENST00000278590 human ensembl 74_37 +1 known silent c.1713 p.T571 0.997 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12C HGNC ENSG00000149289 94 0 0 93 8 7.92079 ZC3H12C 0 genome.wustl.edu 37 11 110035979 110035979 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 110035979 110035979 C T SNP ZC3H12C ENST00000278590 human ensembl 74_37 +1 known silent c.2169 p.G723 0.056 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12C HGNC ENSG00000149289 146 0 0 107 8 6.95652 RDX 0 genome.wustl.edu 37 11 110102620 110102620 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 110102620 110102620 G A SNP RDX ENST00000530749 human ensembl 74_37 -1 known missense c.1726 p.R576C 1.000 pirsf_ERM,pfam_ERM_C_dom,superfamily_Moesin_tail,prints_Ez/rad/moesin_like pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors RDX HGNC ENSG00000137710 257 0 0 233 20 7.90514 ARHGAP20 0 genome.wustl.edu 37 11 110451712 110451712 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 110451712 110451712 C T SNP ARHGAP20 ENST00000260283 human ensembl 74_37 -1 known missense c.1958 p.R653Q 0.000 NULL pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom - no_errors ARHGAP20 HGNC ENSG00000137727 42 0 0 17 11 39.2857 ARHGAP20 0 genome.wustl.edu 37 11 110477373 110477373 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 110477373 110477373 C A SNP ARHGAP20 ENST00000260283 human ensembl 74_37 -1 known missense c.876 p.E292D 0.814 pfscan_Ras-assoc pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom - no_errors ARHGAP20 HGNC ENSG00000137727 164 0 0 133 10 6.99301 SIK2 0 genome.wustl.edu 37 11 111582989 111582989 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 111582989 111582989 C T SNP SIK2 ENST00000304987 human ensembl 74_37 +1 known nonsense c.1156 p.R386* 1.000 pirsf_Ser/Thr_kinase_SIK1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC ENSG00000170145 91 0 0 50 19 27.5362 TIMM8B 0 genome.wustl.edu 37 11 111956131 111956131 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 111956131 111956131 C T SNP TIMM8B ENST00000541231 human ensembl 74_37 -1 known missense c.185 p.R62H 0.999 pfam_Tim10/DDP_fam_Znf,superfamily_Tim10/DDP_fam_Znf pfam_Tim10/DDP_fam_Znf,superfamily_Tim10/DDP_fam_Znf - no_errors TIMM8B HGNC ENSG00000150779 67 0 0 41 10 19.6078 BCO2 0 genome.wustl.edu 37 11 112050080 112050080 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 112050080 112050080 G A SNP BCO2 ENST00000357685 human ensembl 74_37 +1 known silent c.168 p.P56 0.018 NULL pfam_Carotenoid_Oase - no_errors BCO2 HGNC ENSG00000197580 81 0 0 68 6 8.10811 BCO2 0 genome.wustl.edu 37 11 112071486 112071486 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 112071486 112071486 G A SNP BCO2 ENST00000357685 human ensembl 74_37 +1 known missense c.1016 p.R339H 0.997 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors BCO2 HGNC ENSG00000197580 153 0 0 123 8 6.10687 CLDN25 0 genome.wustl.edu 37 11 113651128 113651128 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 113651128 113651128 T C SNP CLDN25 ENST00000453129 human ensembl 74_37 +1 known missense c.611 p.V204A 0.012 NULL pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN25 HGNC ENSG00000228607 71 0 0 51 21 29.1667 NNMT 0 genome.wustl.edu 37 11 114182863 114182863 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 114182863 114182863 C T SNP NNMT ENST00000299964 human ensembl 74_37 +1 known silent c.459 p.P153 0.001 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors NNMT HGNC ENSG00000166741 47 0 0 43 6 12.2449 RBM7 0 genome.wustl.edu 37 11 114278293 114278293 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 114278293 114278293 T C SNP RBM7 ENST00000540163 human ensembl 74_37 +1 known missense c.565 p.W189R 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM7 HGNC ENSG00000076053 123 0 0 62 35 36.0825 NXPE1 0 genome.wustl.edu 37 11 114401373 114401373 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 114401373 114401373 G A SNP NXPE1 ENST00000424269 human ensembl 74_37 -1 known silent c.357 p.D119 0.143 superfamily_Ig_E-set pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE1 HGNC ENSG00000095110 89 0 0 68 6 8.10811 APOA5 0 genome.wustl.edu 37 11 116661211 116661211 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 116661211 116661211 C T SNP APOA5 ENST00000227665 human ensembl 74_37 -1 known missense c.734 p.R245H 0.701 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOA5 HGNC ENSG00000110243 21 0 0 17 4 19.0476 CEP164 0 genome.wustl.edu 37 11 117251377 117251377 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 117251377 117251377 C T SNP CEP164 ENST00000278935 human ensembl 74_37 +1 known silent c.1365 p.S455 0.975 NULL superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors CEP164 HGNC ENSG00000110274 16 0 0 10 4 28.5714 CEP164 0 genome.wustl.edu 37 11 117253605 117253605 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 117253605 117253605 G T SNP CEP164 ENST00000278935 human ensembl 74_37 +1 known missense c.1671 p.E557D 0.805 NULL superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors CEP164 HGNC ENSG00000110274 34 0 0 24 8 25 DSCAML1 0 genome.wustl.edu 37 11 117308798 117308798 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 117308798 117308798 G A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known silent c.4425 p.G1475 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 50 0 0 25 6 19.3548 DSCAML1 0 genome.wustl.edu 37 11 117332302 117332302 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 117332302 117332302 C A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.3456 p.Q1152H 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 37 0 0 35 13 27.0833 TMPRSS13 0 genome.wustl.edu 37 11 117787928 117787928 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 117787928 117787928 G A SNP TMPRSS13 ENST00000445164 human ensembl 74_37 -1 known silent c.513 p.C171 0.009 pirsf_Peptidase_S1A_TMPRSS13 pirsf_Peptidase_S1A_TMPRSS13,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_SRCR,pfscan_Peptidase_S1 - no_errors TMPRSS13 HGNC ENSG00000137747 19 0 0 24 11 31.4286 KMT2A 0 genome.wustl.edu 37 11 118369241 118369241 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 118369241 118369241 G A SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.5950 p.E1984K 1.000 superfamily_Znf_FYVE_PHD,pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_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 171 0 0 143 29 16.8605 KMT2A 0 genome.wustl.edu 37 11 118373253 118373253 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 118373253 118373253 A G SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.6637 p.M2213V 0.651 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 76 0 0 57 11 16.1765 PHLDB1 0 genome.wustl.edu 37 11 118501928 118501928 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 118501928 118501928 G A SNP PHLDB1 ENST00000361417 human ensembl 74_37 +1 known missense c.1832 p.R611H 1.000 NULL pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB1 HGNC ENSG00000019144 227 0 0 179 14 7.25389 PHLDB1 0 genome.wustl.edu 37 11 118512986 118512986 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 118512986 118512986 G A SNP PHLDB1 ENST00000361417 human ensembl 74_37 +1 known silent c.2751 p.L917 0.963 NULL pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB1 HGNC ENSG00000019144 64 0 0 48 17 26.1538 HYOU1 0 genome.wustl.edu 37 11 118921765 118921765 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 118921765 118921765 G A SNP HYOU1 ENST00000404233 human ensembl 74_37 -1 known silent c.1647 p.G549 0.016 pfam_Hsp_70_fam,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC ENSG00000149428 53 0 0 38 9 19.1489 VPS11 0 genome.wustl.edu 37 11 118949009 118949009 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 118949009 118949009 C T SNP VPS11 ENST00000300793 human ensembl 74_37 +1 known nonsense c.1885 p.R629* 0.424 superfamily_ARM-type_fold,pirsf_VPS11 pfam_VPS11_C,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_RING,pirsf_VPS11,pfscan_Znf_RING - no_errors VPS11 HGNC ENSG00000160695 177 0 0 92 37 28.6822 MFRP 0 genome.wustl.edu 37 11 119213674 119213674 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 119213674 119213674 C T SNP MFRP ENST00000360167 human ensembl 74_37 -1 novel missense c.938 p.R313H 0.000 NULL pfam_CUB_dom,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB_dom,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt - no_errors MFRP HGNC ENSG00000235718 12 0 0 8 7 46.6667 ARHGEF12 0 genome.wustl.edu 37 11 120317151 120317151 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 120317151 120317151 G A SNP ARHGEF12 ENST00000356641 human ensembl 74_37 +1 known missense c.1328 p.R443H 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 89 0 0 62 14 18.4211 UBASH3B 0 genome.wustl.edu 37 11 122650347 122650347 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 122650347 122650347 C T SNP UBASH3B ENST00000284273 human ensembl 74_37 +1 known missense c.545 p.A182V 1.000 superfamily_RNA_ligase/cNuc_Pdiesterase pfam_His_Pase_superF_clade-1,pfam_SH3_domain,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_SH3_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,smart_UBA/transl_elong_EF1B_N_euk,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBASH3B HGNC ENSG00000154127 111 0 0 65 18 21.6867 CLMP 0 genome.wustl.edu 37 11 122955287 122955287 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 122955287 122955287 G A SNP CLMP ENST00000448775 human ensembl 74_37 -1 known silent c.321 p.G107 0.996 pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD47_Vset,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD47_Vset,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CLMP HGNC ENSG00000166250 61 0 0 53 18 25.3521 GRAMD1B 0 genome.wustl.edu 37 11 123479434 123479434 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 123479434 123479434 C T SNP GRAMD1B ENST00000322282 human ensembl 74_37 +1 known silent c.1152 p.S384 0.462 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1B HGNC ENSG00000023171 14 0 0 18 5 21.7391 ZNF202 0 genome.wustl.edu 37 11 123596942 123596942 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 123596942 123596942 G A SNP ZNF202 ENST00000336139 human ensembl 74_37 -1 known silent c.1710 p.C570 0.998 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF202 HGNC ENSG00000166261 59 0 0 33 8 19.5122 OR6M1 0 genome.wustl.edu 37 11 123676505 123676505 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 123676505 123676505 C T SNP OR6M1 ENST00000309154 human ensembl 74_37 -1 known missense c.553 p.A185T 0.207 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 OR6M1 HGNC ENSG00000196099 60 0 0 47 10 17.5439 OR10G8 0 genome.wustl.edu 37 11 123900389 123900389 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 123900389 123900389 G A SNP OR10G8 ENST00000431524 human ensembl 74_37 +1 known silent c.60 p.A20 0.003 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G8 HGNC ENSG00000234560 188 0 0 115 26 18.4397 OR10G8 0 genome.wustl.edu 37 11 123900887 123900887 + Silent SNP G G C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 123900887 123900887 G C SNP OR10G8 ENST00000431524 human ensembl 74_37 +1 known silent c.558 p.L186 0.960 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 OR10G8 HGNC ENSG00000234560 159 0 0 146 10 6.41026 OR8B2 0 genome.wustl.edu 37 11 124252940 124252940 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 124252940 124252940 C T SNP OR8B2 ENST00000375013 human ensembl 74_37 -1 known silent c.300 p.R100 0.935 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 OR8B2 HGNC ENSG00000204293 159 1 0.625 113 35 23.6486 OR8B3 0 genome.wustl.edu 37 11 124266483 124266483 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 124266483 124266483 C T SNP OR8B3 ENST00000354597 human ensembl 74_37 -1 known silent c.765 p.A255 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8B3 HGNC ENSG00000196661 106 0 0 73 36 33.0275 OR8B8 0 genome.wustl.edu 37 11 124310510 124310510 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 124310510 124310510 C T SNP OR8B8 ENST00000328064 human ensembl 74_37 -1 known missense c.472 p.A158T 0.189 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 OR8B8 HGNC ENSG00000197125 86 0 0 56 21 27.2727 ESAM 0 genome.wustl.edu 37 11 124623849 124623849 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 124623849 124623849 G A SNP ESAM ENST00000278927 human ensembl 74_37 -1 known missense c.866 p.A289V 0.994 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ESAM HGNC ENSG00000149564 23 0 0 10 4 28.5714 ESAM 0 genome.wustl.edu 37 11 124624540 124624540 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 124624540 124624540 T C SNP ESAM ENST00000278927 human ensembl 74_37 -1 known missense c.727 p.T243A 0.999 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ESAM HGNC ENSG00000149564 181 0 0 119 38 24.2038 ROBO3 0 genome.wustl.edu 37 11 124735609 124735609 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 124735609 124735609 C T SNP ROBO3 ENST00000397801 human ensembl 74_37 +1 known missense c.136 p.P46S 0.913 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO3 HGNC ENSG00000154134 20 0 0 9 4 30.7692 ROBO3 0 genome.wustl.edu 37 11 124747625 124747625 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 124747625 124747625 G A SNP ROBO3 ENST00000532472 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ROBO3 HGNC ENSG00000154134 10 0 0 3 6 66.6667 ROBO3 0 genome.wustl.edu 37 11 124749437 124749437 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 124749437 124749437 G T SNP ROBO3 ENST00000397801 human ensembl 74_37 +1 known missense c.3762 p.K1254N 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO3 HGNC ENSG00000154134 23 0 0 20 6 23.0769 SLC37A2 0 genome.wustl.edu 37 11 124955002 124955002 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 124955002 124955002 C T SNP SLC37A2 ENST00000298280 human ensembl 74_37 +1 known missense c.1129 p.R377C 0.160 pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC37A2 HGNC ENSG00000134955 57 0 0 26 11 29.7297 CDON 0 genome.wustl.edu 37 11 125853941 125853941 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 125853941 125853941 T C SNP CDON ENST00000392693 human ensembl 74_37 -1 known missense c.2821 p.T941A 0.992 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CDON HGNC ENSG00000064309 58 0 0 33 17 34 FOXRED1 0 genome.wustl.edu 37 11 126144908 126144908 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 126144908 126144908 C T SNP FOXRED1 ENST00000263578 human ensembl 74_37 +1 known missense c.623 p.A208V 0.999 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors FOXRED1 HGNC ENSG00000110074 44 0 0 37 9 19.5652 MUC5B 0 genome.wustl.edu 37 11 1281031 1281031 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 1281031 1281031 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.16768 p.V5590I 0.543 pfscan_VWF_C 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 44 0 0 20 9 31.0345 ETS1 0 genome.wustl.edu 37 11 128350146 128350146 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 128350146 128350146 G A SNP ETS1 ENST00000392668 human ensembl 74_37 -1 known missense c.1063 p.R355C 1.000 pirsf_Transform_prot_C-ets pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pirsf_Transform_prot_C-ets,pfscan_Ets_dom,prints_Ets_dom - no_errors ETS1 HGNC ENSG00000134954 21 0 0 20 9 31.0345 C11orf45 0 genome.wustl.edu 37 11 128773396 128773396 + Silent SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 128773396 128773396 G T SNP C11orf45 ENST00000310799 human ensembl 74_37 -1 known silent c.147 p.A49 0.000 NULL NULL - no_errors C11orf45 HGNC ENSG00000174370 45 0 0 27 7 20.5882 ARHGAP32 0 genome.wustl.edu 37 11 128993351 128993351 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 128993351 128993351 C T SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known missense c.392 p.G131D 1.000 superfamily_Phox pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 42 0 0 31 10 24.3902 TMEM45B 0 genome.wustl.edu 37 11 129722528 129722528 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 129722528 129722528 G A SNP TMEM45B ENST00000281441 human ensembl 74_37 +1 known missense c.151 p.A51T 0.000 NULL pfam_DUF716_TMEM45 - no_errors TMEM45B HGNC ENSG00000151715 94 0 0 59 20 25.3165 NFRKB 0 genome.wustl.edu 37 11 129740016 129740016 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 129740016 129740016 C T SNP NFRKB ENST00000524794 human ensembl 74_37 -1 known silent c.2979 p.T993 0.957 NULL NULL - no_errors NFRKB HGNC ENSG00000170322 151 0 0 102 8 7.27273 PRDM10 0 genome.wustl.edu 37 11 129817095 129817095 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 129817095 129817095 C T SNP PRDM10 ENST00000358825 human ensembl 74_37 -1 known silent c.465 p.T155 0.193 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM10 HGNC ENSG00000170325 53 0 0 43 6 12.2449 ZBTB44 0 genome.wustl.edu 37 11 130108387 130108387 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 130108387 130108387 G A SNP ZBTB44 ENST00000357899 human ensembl 74_37 -1 known nonsense c.1219 p.R407* 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB44 HGNC ENSG00000196323 13 0 0 14 5 26.3158 ADAMTS15 0 genome.wustl.edu 37 11 130341117 130341117 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 130341117 130341117 G A SNP ADAMTS15 ENST00000299164 human ensembl 74_37 +1 known silent c.1917 p.T639 0.000 NULL 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_Peptidase_M12B_ADAM-TS,prints_Pept_M12B_ADAM-TS8 - no_errors ADAMTS15 HGNC ENSG00000166106 25 0 0 33 12 26.6667 IGSF9B 0 genome.wustl.edu 37 11 133791085 133791085 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 133791085 133791085 C T SNP IGSF9B ENST00000321016 human ensembl 74_37 -1 known silent c.2535 p.T845 0.477 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 IGSF9B HGNC ENSG00000080854 46 0 0 25 6 19.3548 IGSF9B 0 genome.wustl.edu 37 11 133794728 133794728 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 133794728 133794728 G A SNP IGSF9B ENST00000321016 human ensembl 74_37 -1 known silent c.2106 p.G702 0.294 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 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 121 0 0 67 13 16.25 ARNTL 0 genome.wustl.edu 37 11 13402723 13402723 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 13402723 13402723 G A SNP ARNTL ENST00000403290 human ensembl 74_37 +1 known silent c.1539 p.S513 0.003 NULL pfam_PAS_fold,pfam_PAS_fold_3,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors ARNTL HGNC ENSG00000133794 135 0 0 88 31 26.0504 GLB1L2 0 genome.wustl.edu 37 11 134240273 134240273 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 134240273 134240273 G A SNP GLB1L2 ENST00000339772 human ensembl 74_37 +1 known missense c.1195 p.A399T 0.937 NULL pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L2 HGNC ENSG00000149328 131 0 0 67 25 27.1739 SPON1 0 genome.wustl.edu 37 11 14276113 14276113 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 14276113 14276113 G A SNP SPON1 ENST00000310358 human ensembl 74_37 +1 known rna NULL NULL 0.067 - - - no_errors SPON1 HGNC ENSG00000152268 49 0 0 30 8 21.0526 PLEKHA7 0 genome.wustl.edu 37 11 16837748 16837748 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 16837748 16837748 C T SNP PLEKHA7 ENST00000448080 human ensembl 74_37 -1 known missense c.1930 p.A644T 1.000 NULL pfam_Pleckstrin_homology,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA7 HGNC ENSG00000166689 27 0 0 23 15 39.4737 PLEKHA7 0 genome.wustl.edu 37 11 16892710 16892710 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 16892710 16892710 C T SNP PLEKHA7 ENST00000448080 human ensembl 74_37 -1 known missense c.241 p.A81T 0.981 pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom pfam_Pleckstrin_homology,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA7 HGNC ENSG00000166689 104 0 0 43 19 30.6452 KRTAP5-6 0 genome.wustl.edu 37 11 1718528 1718528 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 1718528 1718528 G A SNP KRTAP5-6 ENST00000382160 human ensembl 74_37 +1 known missense c.53 p.G18D 0.895 NULL NULL - no_errors KRTAP5-6 HGNC ENSG00000205864 98 0 0 86 8 8.51064 TPH1 0 genome.wustl.edu 37 11 18048170 18048170 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 18048170 18048170 G A SNP TPH1 ENST00000341556 human ensembl 74_37 -1 known missense c.670 p.R224C 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH1 HGNC ENSG00000129167 69 0 0 63 13 17.1053 SPTY2D1 0 genome.wustl.edu 37 11 18636593 18636593 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 18636593 18636593 G A SNP SPTY2D1 ENST00000336349 human ensembl 74_37 -1 known nonsense c.1228 p.R410* 0.091 NULL pfam_Chromatin_SPT2,smart_Chromatin_SPT2 - no_errors SPTY2D1 HGNC ENSG00000179119 41 0 0 38 4 9.52381 TMEM86A 0 genome.wustl.edu 37 11 18722705 18722705 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 18722705 18722705 G A SNP TMEM86A ENST00000280734 human ensembl 74_37 +1 known missense c.247 p.A83T 1.000 pfam_YhhN pfam_YhhN - no_errors TMEM86A HGNC ENSG00000151117 104 0 0 56 20 26.3158 NAV2 0 genome.wustl.edu 37 11 20077375 20077375 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 20077375 20077375 G A SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.4772 p.S1591N 1.000 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 107 0 0 57 11 16.1765 MPPED2 0 genome.wustl.edu 37 11 30601840 30601840 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 30601840 30601840 C T SNP MPPED2 ENST00000358117 human ensembl 74_37 -1 known silent c.81 p.T27 0.287 NULL pfam_PEstase_dom - no_errors MPPED2 HGNC ENSG00000066382 80 0 0 52 15 22.3881 EIF3M 0 genome.wustl.edu 37 11 32615446 32615446 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 32615446 32615446 G A SNP EIF3M ENST00000531120 human ensembl 74_37 +1 known missense c.568 p.G190R 1.000 superfamily_ARM-type_fold pfam_PCI_dom,superfamily_ARM-type_fold,smart_PCI_dom - no_errors EIF3M HGNC ENSG00000149100 96 0 0 67 24 26.3736 QSER1 0 genome.wustl.edu 37 11 32975681 32975681 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 32975681 32975681 C T SNP QSER1 ENST00000399302 human ensembl 74_37 +1 known missense c.4069 p.R1357C 1.000 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 94 0 0 79 20 20.202 CSTF3 0 genome.wustl.edu 37 11 33120306 33120306 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 33120306 33120306 C T SNP CSTF3 ENST00000323959 human ensembl 74_37 -1 known missense c.1058 p.R353H 1.000 NULL pfam_Suf,smart_HAT - no_errors CSTF3 HGNC ENSG00000176102 195 0 0 164 28 14.5833 KIAA1549L 0 genome.wustl.edu 37 11 33565790 33565790 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 33565790 33565790 A G SNP KIAA1549L ENST00000389726 human ensembl 74_37 +1 known missense c.1790 p.H597R 0.002 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 132 1 0.75188 118 7 5.6 LMO2 0 genome.wustl.edu 37 11 33881013 33881013 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 33881013 33881013 G A SNP LMO2 ENST00000257818 human ensembl 74_37 -1 known silent c.573 p.C191 0.943 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMO2 HGNC ENSG00000135363 63 0 0 46 25 35.2113 ABTB2 0 genome.wustl.edu 37 11 34218942 34218942 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 34218942 34218942 G A SNP ABTB2 ENST00000435224 human ensembl 74_37 -1 known missense c.1174 p.R392W 1.000 NULL pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB2 HGNC ENSG00000166016 40 0 0 30 8 21.0526 ELF5 0 genome.wustl.edu 37 11 34515211 34515211 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 34515211 34515211 C T SNP ELF5 ENST00000312319 human ensembl 74_37 -1 known missense c.200 p.R67H 1.000 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF5 HGNC ENSG00000135374 64 0 0 40 8 16.6667 EHF 0 genome.wustl.edu 37 11 34680177 34680177 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 34680177 34680177 C T SNP EHF ENST00000257831 human ensembl 74_37 +1 known silent c.705 p.G235 0.998 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors EHF HGNC ENSG00000135373 119 0 0 77 14 15.3846 PDHX 0 genome.wustl.edu 37 11 34988196 34988196 + Silent SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 34988196 34988196 C A SNP PDHX ENST00000227868 human ensembl 74_37 +1 known silent c.651 p.L217 0.997 pfam_E3-bd,superfamily_E3-bd pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl - no_errors PDHX HGNC ENSG00000110435 181 0 0 107 35 24.6479 PDHX 0 genome.wustl.edu 37 11 34988232 34988232 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 34988232 34988232 C T SNP PDHX ENST00000227868 human ensembl 74_37 +1 known silent c.687 p.T229 0.046 NULL pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl - no_errors PDHX HGNC ENSG00000110435 121 0 0 80 23 22.3301 LDLRAD3 0 genome.wustl.edu 37 11 36250736 36250736 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 36250736 36250736 C T SNP LDLRAD3 ENST00000315571 human ensembl 74_37 +1 known missense c.827 p.P276L 0.996 NULL pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LDLRAD3 HGNC ENSG00000179241 132 0 0 78 21 21.2121 LDLRAD3 0 genome.wustl.edu 37 11 36250849 36250849 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 36250849 36250849 G A SNP LDLRAD3 ENST00000315571 human ensembl 74_37 +1 known missense c.940 p.V314M 0.012 NULL pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LDLRAD3 HGNC ENSG00000179241 33 0 0 35 5 12.5 COMMD9 0 genome.wustl.edu 37 11 36300147 36300147 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 36300147 36300147 C T SNP COMMD9 ENST00000263401 human ensembl 74_37 -1 known missense c.197 p.R66H 0.977 pfam_HCaRG pfam_HCaRG - no_errors COMMD9 HGNC ENSG00000110442 52 0 0 19 5 20.8333 RAG1 0 genome.wustl.edu 37 11 36595270 36595270 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 36595270 36595270 G A SNP RAG1 ENST00000299440 human ensembl 74_37 +1 known missense c.416 p.G139D 0.019 NULL pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING - no_errors RAG1 HGNC ENSG00000166349 101 0 0 60 21 25.9259 PGAP2 0 genome.wustl.edu 37 11 3845179 3845179 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 3845179 3845179 C T SNP PGAP2 ENST00000278243 human ensembl 74_37 +1 known missense c.415 p.R139C 1.000 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 - no_errors PGAP2 HGNC ENSG00000148985 54 0 0 57 5 8.06452 LRRC4C 0 genome.wustl.edu 37 11 40136706 40136706 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 40136706 40136706 T C SNP LRRC4C ENST00000527150 human ensembl 74_37 -1 known silent c.1137 p.T379 0.713 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors LRRC4C HGNC ENSG00000148948 104 0 0 54 18 25 TTC17 0 genome.wustl.edu 37 11 43513699 43513699 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 43513699 43513699 G A SNP TTC17 ENST00000039989 human ensembl 74_37 +1 known missense c.3280 p.V1094I 1.000 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC17 HGNC ENSG00000052841 133 0 0 92 34 26.9841 OR52B4 0 genome.wustl.edu 37 11 4389392 4389392 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 4389392 4389392 C T SNP OR52B4 ENST00000408920 human ensembl 74_37 -1 known missense c.134 p.S45N 0.003 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 OR52B4 HGNC ENSG00000221996 47 0 0 35 5 12.5 ACCS 0 genome.wustl.edu 37 11 44099449 44099449 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 44099449 44099449 G A SNP ACCS ENST00000263776 human ensembl 74_37 +1 known missense c.709 p.A237T 0.993 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCS HGNC ENSG00000110455 28 0 0 28 6 17.6471 MAPK8IP1 0 genome.wustl.edu 37 11 45925641 45925641 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 45925641 45925641 G A SNP MAPK8IP1 ENST00000241014 human ensembl 74_37 +1 known missense c.1595 p.R532H 1.000 pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_PTB/PI_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_SH3_domain - no_errors MAPK8IP1 HGNC ENSG00000121653 65 0 0 39 5 11.3636 PEX16 0 genome.wustl.edu 37 11 45931824 45931824 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 45931824 45931824 T C SNP PEX16 ENST00000378750 human ensembl 74_37 -1 known missense c.992 p.Y331C 1.000 NULL pfam_Pex16 - no_errors PEX16 HGNC ENSG00000121680 44 0 0 34 7 17.0732 GYLTL1B 0 genome.wustl.edu 37 11 45949545 45949545 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 45949545 45949545 G A SNP GYLTL1B ENST00000325468 human ensembl 74_37 +1 known missense c.1679 p.R560H 0.993 NULL pfam_Glyco_trans_8 - no_errors GYLTL1B HGNC ENSG00000165905 33 0 0 33 3 8.33333 OR52I2 0 genome.wustl.edu 37 11 4608901 4608901 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 4608901 4608901 G A SNP OR52I2 ENST00000312614 human ensembl 74_37 +1 known missense c.859 p.A287T 0.014 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52I2 HGNC ENSG00000226288 137 1 0.724638 82 30 26.7857 CHRM4 0 genome.wustl.edu 37 11 46408103 46408103 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 46408103 46408103 G A SNP CHRM4 ENST00000433765 human ensembl 74_37 -1 known missense c.5 p.A2V 1.000 NULL 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 74 0 0 61 18 22.7848 AMBRA1 0 genome.wustl.edu 37 11 46419227 46419227 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 46419227 46419227 G A SNP AMBRA1 ENST00000458649 human ensembl 74_37 -1 known nonsense c.3670 p.R1224* 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 35 0 0 12 11 47.8261 HARBI1 0 genome.wustl.edu 37 11 46637365 46637365 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 46637365 46637365 C T SNP HARBI1 ENST00000326737 human ensembl 74_37 -1 known missense c.423 p.M141I 1.000 pfam_Harbinger_derived_prot_plant pfam_Harbinger_derived_prot_plant - no_errors HARBI1 HGNC ENSG00000180423 303 0 0 209 63 23.1618 OR51E1 0 genome.wustl.edu 37 11 4674699 4674699 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 4674699 4674699 G A SNP OR51E1 ENST00000396952 human ensembl 74_37 +1 known missense c.943 p.A315T 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51E1 HGNC ENSG00000180785 89 0 0 57 26 31.3253 CKAP5 0 genome.wustl.edu 37 11 46797803 46797803 + Splice_Site SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 46797803 46797803 A G SNP CKAP5 ENST00000415402 human ensembl 74_37 -1 known splice_site c.2991+2 e23+2 1.000 - - - no_errors CKAP5 HGNC ENSG00000175216 70 0 0 47 5 9.61538 LRP4 0 genome.wustl.edu 37 11 46880599 46880599 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 46880599 46880599 G A SNP LRP4 ENST00000378623 human ensembl 74_37 -1 known nonsense c.5653 p.R1885* 1.000 NULL pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP4 HGNC ENSG00000134569 57 0 0 34 10 22.7273 LRP4 0 genome.wustl.edu 37 11 46916311 46916311 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 46916311 46916311 G A SNP LRP4 ENST00000378623 human ensembl 74_37 -1 known missense c.1369 p.R457C 1.000 superfamily_Growth_fac_rcpt_N_dom pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP4 HGNC ENSG00000134569 76 0 0 43 12 21.8182 ARFGAP2 0 genome.wustl.edu 37 11 47188378 47188378 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 47188378 47188378 C T SNP ARFGAP2 ENST00000524782 human ensembl 74_37 -1 known missense c.1265 p.R422H 0.849 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP2 HGNC ENSG00000149182 188 0 0 137 44 24.3094 NR1H3 0 genome.wustl.edu 37 11 47282972 47282972 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 47282972 47282972 G A SNP NR1H3 ENST00000441012 human ensembl 74_37 +1 known missense c.680 p.R227H 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Ecdystd_rcpt - no_errors NR1H3 HGNC ENSG00000025434 71 0 0 39 23 37.0968 MADD 0 genome.wustl.edu 37 11 47306937 47306937 + RNA SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 47306937 47306937 A G SNP MADD ENST00000524686 human ensembl 74_37 +1 known rna NULL NULL 0.154 - - - no_errors MADD HGNC ENSG00000110514 127 0 0 82 25 23.3645 MYBPC3 0 genome.wustl.edu 37 11 47367812 47367812 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 47367812 47367812 G A SNP MYBPC3 ENST00000399249 human ensembl 74_37 -1 known missense c.1036 p.R346C 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC3 HGNC ENSG00000134571 42 0 0 19 5 20.8333 PTPRJ 0 genome.wustl.edu 37 11 48145282 48145282 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 48145282 48145282 G A SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known missense c.734 p.S245N 0.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 81 0 0 41 20 32.7869 LOC440040 0 genome.wustl.edu 37 11 49598046 49598046 + RNA SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 49598046 49598046 C A SNP LOC440040 ENST00000527477 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors RP11-707M1.1 Clone_based_vega_gene ENSG00000205035 29 0 0 18 9 33.3333 OR51A4 0 genome.wustl.edu 37 11 4967774 4967774 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 4967774 4967774 A G SNP OR51A4 ENST00000380373 human ensembl 74_37 -1 known missense c.557 p.V186A 0.012 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 OR51A4 HGNC ENSG00000205497 161 0 0 108 32 22.8571 OR51B6 0 genome.wustl.edu 37 11 5373588 5373588 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 5373588 5373588 T C SNP OR51B6 ENST00000380219 human ensembl 74_37 +1 known missense c.851 p.F284S 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 - no_errors OR51B6 HGNC ENSG00000176239 115 0 0 82 28 25.4545 OR51Q1 0 genome.wustl.edu 37 11 5444163 5444163 + Missense_Mutation SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 5444163 5444163 T A SNP OR51Q1 ENST00000300778 human ensembl 74_37 +1 known missense c.733 p.S245T 0.980 pfam_GPCR_Rhodpsn,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 OR51Q1 HGNC ENSG00000167360 117 0 0 76 5 6.17284 TRIM48 0 genome.wustl.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 55035844 55035844 T C SNP TRIM48 ENST00000417545 human ensembl 74_37 +1 known missense c.574 p.Y192H 0.183 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM48 HGNC ENSG00000150244 107 0 0 84 9 9.67742 OR4A16 0 genome.wustl.edu 37 11 55110982 55110982 + Missense_Mutation SNP A A C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 55110982 55110982 A C SNP OR4A16 ENST00000314721 human ensembl 74_37 +1 known missense c.306 p.E102D 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A16 HGNC ENSG00000181961 170 0 0 114 53 31.7365 OR4A15 0 genome.wustl.edu 37 11 55136066 55136066 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 55136066 55136066 C T SNP OR4A15 ENST00000314706 human ensembl 74_37 +1 known missense c.707 p.A236V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A15 HGNC ENSG00000181958 108 0 0 89 7 7.29167 OR4C16 0 genome.wustl.edu 37 11 55339888 55339888 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 55339888 55339888 C T SNP OR4C16 ENST00000314634 human ensembl 74_37 +1 known silent c.285 p.C95 0.997 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C16 HGNC ENSG00000181935 233 0 0 161 43 21.0784 OR4C11 0 genome.wustl.edu 37 11 55371828 55371828 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 55371828 55371828 G A SNP OR4C11 ENST00000302231 human ensembl 74_37 -1 known missense c.22 p.P8S 0.021 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C11 HGNC ENSG00000172188 110 0 0 64 25 28.0899 OR52H1 0 genome.wustl.edu 37 11 5566215 5566215 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 5566215 5566215 C T SNP OR52H1 ENST00000322653 human ensembl 74_37 -1 known missense c.539 p.R180H 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52H1 HGNC ENSG00000181616 64 0 0 54 6 10 OR10AG1 0 genome.wustl.edu 37 11 55735774 55735774 + Missense_Mutation SNP T T G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 55735774 55735774 T G SNP OR10AG1 ENST00000312345 human ensembl 74_37 -1 known missense c.166 p.N56H 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10AG1 HGNC ENSG00000174970 121 0 0 80 6 6.97674 OR10AG1 0 genome.wustl.edu 37 11 55735781 55735781 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 55735781 55735781 A G SNP OR10AG1 ENST00000312345 human ensembl 74_37 -1 known silent c.159 p.F53 0.945 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10AG1 HGNC ENSG00000174970 120 0 0 77 6 7.22892 OR5F1 0 genome.wustl.edu 37 11 55761731 55761731 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 55761731 55761731 G A SNP OR5F1 ENST00000278409 human ensembl 74_37 -1 known missense c.371 p.A124V 0.987 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 OR5F1 HGNC ENSG00000149133 97 0 0 60 19 24.0506 OR8H2 0 genome.wustl.edu 37 11 55872941 55872941 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 55872941 55872941 C T SNP OR8H2 ENST00000313503 human ensembl 74_37 +1 known silent c.423 p.C141 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H2 HGNC ENSG00000181767 226 0 0 142 48 25.2632 ENSG00000254815 0 genome.wustl.edu 37 11 558819 558819 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 558819 558819 G A SNP ENSG00000254815 ENST00000527620 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-496I9.1 Clone_based_vega_gene ENSG00000254815 11 0 0 6 4 40 OR8H3 0 genome.wustl.edu 37 11 55889929 55889929 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 55889929 55889929 T C SNP OR8H3 ENST00000313472 human ensembl 74_37 +1 known silent c.81 p.A27 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H3 HGNC ENSG00000181761 189 0 0 138 35 20.2312 OR8K1 0 genome.wustl.edu 37 11 56114241 56114241 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 56114241 56114241 G A SNP OR8K1 ENST00000279783 human ensembl 74_37 +1 known missense c.727 p.A243T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K1 HGNC ENSG00000150261 57 0 0 40 10 20 OR8U1 0 genome.wustl.edu 37 11 56143919 56143919 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 56143919 56143919 G A SNP OR8U1 ENST00000302270 human ensembl 74_37 +1 known missense c.820 p.A274T 0.156 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8U1 HGNC ENSG00000172199 261 0 0 192 17 8.13397 OR5M8 0 genome.wustl.edu 37 11 56258342 56258342 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 56258342 56258342 C T SNP OR5M8 ENST00000327216 human ensembl 74_37 -1 known missense c.505 p.G169S 0.473 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M8 HGNC ENSG00000181371 108 0 0 67 28 29.4737 TNKS1BP1 0 genome.wustl.edu 37 11 57076125 57076125 + Nonsense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 57076125 57076125 C A SNP TNKS1BP1 ENST00000358252 human ensembl 74_37 -1 known nonsense c.4060 p.E1354* 0.055 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 129 0 0 77 31 28.7037 SLC43A1 0 genome.wustl.edu 37 11 57252625 57252625 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 57252625 57252625 C T SNP SLC43A1 ENST00000278426 human ensembl 74_37 -1 known missense c.1624 p.A542T 0.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A1 HGNC ENSG00000149150 38 0 0 24 5 17.2414 TRIM22 0 genome.wustl.edu 37 11 5730360 5730360 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 5730360 5730360 C T SNP TRIM22 ENST00000379965 human ensembl 74_37 +1 known missense c.979 p.R327C 0.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM22 HGNC ENSG00000132274 133 0 0 87 18 17.1429 CLP1 0 genome.wustl.edu 37 11 57428850 57428850 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 57428850 57428850 G A SNP CLP1 ENST00000525602 human ensembl 74_37 +1 known missense c.1220 p.R407H 1.000 pfam_Pre-mRNA_cleavage_cplxII_Clp1 pfam_Pre-mRNA_cleavage_cplxII_Clp1,superfamily_P-loop_NTPase - no_errors CLP1 HGNC ENSG00000172409 125 0 0 62 6 8.82353 OR10V1 0 genome.wustl.edu 37 11 59480487 59480487 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 59480487 59480487 C T SNP OR10V1 ENST00000307552 human ensembl 74_37 -1 known missense c.832 p.A278T 0.997 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 OR10V1 HGNC ENSG00000172289 108 0 0 66 27 29.0323 GIF 0 genome.wustl.edu 37 11 59611434 59611434 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 59611434 59611434 C T SNP GIF ENST00000257248 human ensembl 74_37 -1 known silent c.174 p.L58 1.000 pfam_Cbl-bd_transpt_euk pfam_Cbl-bd_transpt_euk - no_errors GIF HGNC ENSG00000134812 59 0 0 50 8 13.7931 OR56A3 0 genome.wustl.edu 37 11 5969245 5969245 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 5969245 5969245 C T SNP OR56A3 ENST00000329564 human ensembl 74_37 +1 known silent c.669 p.T223 0.000 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 OR56A3 HGNC ENSG00000184478 182 0 0 158 9 5.38922 MS4A4E 0 genome.wustl.edu 37 11 59992560 59992560 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 59992560 59992560 G A SNP MS4A4E ENST00000427611 human ensembl 74_37 -1 known missense c.112 p.R38W 0.937 NULL NULL - no_errors MS4A4E HGNC ENSG00000214787 30 0 0 16 3 15.7895 MS4A4A 0 genome.wustl.edu 37 11 60070111 60070111 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 60070111 60070111 C T SNP MS4A4A ENST00000337908 human ensembl 74_37 +1 known missense c.467 p.A156V 0.000 pfam_CD20-like pfam_CD20-like - no_errors MS4A4A HGNC ENSG00000110079 64 0 0 50 16 24.2424 PRPF19 0 genome.wustl.edu 37 11 60666093 60666093 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 60666093 60666093 T C SNP PRPF19 ENST00000227524 human ensembl 74_37 -1 known missense c.1060 p.T354A 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_Ricin_B_lectin,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Pre-mRNA_splic_Prp19,pfam_Ubox_domain,superfamily_WD40_repeat_dom,smart_Ubox_domain,smart_WD40_repeat,pfscan_Ricin_B_lectin,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PRPF19 HGNC ENSG00000110107 58 0 0 43 12 21.8182 PRPF19 0 genome.wustl.edu 37 11 60670217 60670217 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 60670217 60670217 C T SNP PRPF19 ENST00000227524 human ensembl 74_37 -1 known missense c.383 p.R128Q 1.000 pfam_Pre-mRNA_splic_Prp19 pfam_WD40_repeat,pfam_Pre-mRNA_splic_Prp19,pfam_Ubox_domain,superfamily_WD40_repeat_dom,smart_Ubox_domain,smart_WD40_repeat,pfscan_Ricin_B_lectin,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PRPF19 HGNC ENSG00000110107 22 0 0 12 7 36.8421 CD6 0 genome.wustl.edu 37 11 60785861 60785861 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 60785861 60785861 T C SNP CD6 ENST00000313421 human ensembl 74_37 +1 known silent c.1938 p.C646 0.695 NULL pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD6 HGNC ENSG00000013725 11 0 0 7 4 36.3636 CD5 0 genome.wustl.edu 37 11 60889151 60889151 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 60889151 60889151 C T SNP CD5 ENST00000347785 human ensembl 74_37 +1 known missense c.874 p.R292C 0.998 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Tcell_CD5 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Tcell_CD5,prints_SRCR - no_errors CD5 HGNC ENSG00000110448 24 0 0 12 5 29.4118 TMEM216 0 genome.wustl.edu 37 11 61165323 61165323 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 61165323 61165323 G A SNP TMEM216 ENST00000334888 human ensembl 74_37 +1 known missense c.307 p.A103T 1.000 pfam_Uncharacterised_TM-17 pfam_Uncharacterised_TM-17 - no_errors TMEM216 HGNC ENSG00000187049 130 0 0 121 8 6.20155 SYT7 0 genome.wustl.edu 37 11 61290689 61290689 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 61290689 61290689 G A SNP SYT7 ENST00000263846 human ensembl 74_37 -1 known missense c.965 p.T322M 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT7 HGNC ENSG00000011347 71 0 0 62 26 29.5455 DAGLA 0 genome.wustl.edu 37 11 61488161 61488161 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 61488161 61488161 C T SNP DAGLA ENST00000257215 human ensembl 74_37 +1 known silent c.106 p.L36 1.000 NULL pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 47 0 0 24 12 33.3333 FADS2 0 genome.wustl.edu 37 11 61615676 61615676 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 61615676 61615676 G A SNP FADS2 ENST00000278840 human ensembl 74_37 +1 known missense c.664 p.A222T 1.000 pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5-like_heme/steroid-bd - no_errors FADS2 HGNC ENSG00000134824 99 0 0 66 17 20.4819 OR52W1 0 genome.wustl.edu 37 11 6220850 6220850 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 6220850 6220850 C T SNP OR52W1 ENST00000311352 human ensembl 74_37 +1 known missense c.397 p.R133C 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR52W1 HGNC ENSG00000175485 45 0 0 33 6 15.3846 OR52W1 0 genome.wustl.edu 37 11 6221355 6221355 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 6221355 6221355 G A SNP OR52W1 ENST00000311352 human ensembl 74_37 +1 known missense c.902 p.R301H 0.749 prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR52W1 HGNC ENSG00000175485 215 1 0.462963 152 53 25.8537 AHNAK 0 genome.wustl.edu 37 11 62288822 62288822 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 62288822 62288822 G A SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.13067 p.A4356V 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 156 0 0 142 13 8.3871 AHNAK 0 genome.wustl.edu 37 11 62298466 62298466 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 62298466 62298466 G A SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known silent c.3423 p.G1141 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 144 0 0 107 34 24.1135 EEF1G 0 genome.wustl.edu 37 11 62338497 62338497 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 62338497 62338497 G A SNP EEF1G ENST00000378019 human ensembl 74_37 -1 known silent c.612 p.G204 0.181 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Transl_elong_EF1_G_con,pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Transl_elong_EF1_G_con,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,pfscan_Transl_elong_EF1_G_con - no_errors EEF1G HGNC ENSG00000254772 132 1 0.75188 100 30 23.0769 GANAB 0 genome.wustl.edu 37 11 62400959 62400959 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 62400959 62400959 G A SNP GANAB ENST00000346178 human ensembl 74_37 -1 known silent c.654 p.G218 0.997 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom - no_errors GANAB HGNC ENSG00000089597 56 0 0 35 12 25.5319 HNRNPUL2 0 genome.wustl.edu 37 11 62483025 62483025 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 62483025 62483025 G A SNP HNRNPUL2 ENST00000301785 human ensembl 74_37 -1 known nonsense c.2110 p.R704* 0.882 NULL pfam_SPRY_rcpt,pfam_SAP_dom,pfam_Zeta_toxin_domain,pfam_Chromatin_KTI12,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 HNRNPUL2 HGNC ENSG00000214753 103 0 0 94 5 5.05051 WDR74 0 genome.wustl.edu 37 11 62601368 62601368 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 62601368 62601368 G A SNP WDR74 ENST00000278856 human ensembl 74_37 -1 known missense c.817 p.R273C 0.983 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR74 HGNC ENSG00000133316 47 0 0 36 16 30.7692 CNGA4 0 genome.wustl.edu 37 11 6261008 6261008 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 6261008 6261008 C T SNP CNGA4 ENST00000379936 human ensembl 74_37 +1 known missense c.259 p.R87C 0.983 pfam_Ion_trans_dom pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC ENSG00000132259 38 0 0 27 10 27.027 CNGA4 0 genome.wustl.edu 37 11 6261854 6261854 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 6261854 6261854 C T SNP CNGA4 ENST00000379936 human ensembl 74_37 +1 known missense c.830 p.A277V 0.977 superfamily_cNMP-bd-like pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC ENSG00000132259 125 0 0 69 5 6.75676 CNGA4 0 genome.wustl.edu 37 11 6262731 6262731 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 6262731 6262731 C T SNP CNGA4 ENST00000379936 human ensembl 74_37 +1 known silent c.988 p.L330 0.998 superfamily_cNMP-bd-like pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC ENSG00000132259 118 0 0 79 34 30.0885 SLC22A8 0 genome.wustl.edu 37 11 62766535 62766535 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 62766535 62766535 G A SNP SLC22A8 ENST00000336232 human ensembl 74_37 -1 known missense c.619 p.R207W 0.997 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 SLC22A8 HGNC ENSG00000149452 43 0 0 41 5 10.8696 CCKBR 0 genome.wustl.edu 37 11 6291549 6291549 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 6291549 6291549 C T SNP CCKBR ENST00000525462 human ensembl 74_37 +1 known missense c.635 p.A212V 0.020 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC ENSG00000110148 72 0 0 44 16 26.6667 SLC22A10 0 genome.wustl.edu 37 11 63057764 63057764 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 63057764 63057764 G T SNP SLC22A10 ENST00000332793 human ensembl 74_37 +1 known missense c.127 p.A43S 0.473 NULL pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A10 HGNC ENSG00000184999 69 0 0 52 17 24.6377 RCOR2 0 genome.wustl.edu 37 11 63682282 63682282 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 63682282 63682282 C T SNP RCOR2 ENST00000301459 human ensembl 74_37 -1 known missense c.325 p.G109S 1.000 pfscan_ELM2_dom pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors RCOR2 HGNC ENSG00000167771 181 0 0 96 47 32.8671 PLCB3 0 genome.wustl.edu 37 11 64023268 64023268 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 64023268 64023268 G A SNP PLCB3 ENST00000279230 human ensembl 74_37 +1 known missense c.673 p.D225N 0.999 pirsf_PLC-beta,pfam_PLipase_C_EF-hand-like pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB3 HGNC ENSG00000149782 116 0 0 66 18 21.4286 SMPD1 0 genome.wustl.edu 37 11 6413036 6413036 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 6413036 6413036 C T SNP SMPD1 ENST00000342245 human ensembl 74_37 +1 known silent c.741 p.G247 0.805 pfam_PEstase_dom,pirsf_Sphingomy_PDE pfam_PEstase_dom,superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB - no_errors SMPD1 HGNC ENSG00000166311 42 0 0 36 7 16.2791 NRXN2 0 genome.wustl.edu 37 11 64434955 64434955 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 64434955 64434955 C T SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known missense c.1565 p.R522H 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 41 0 0 26 9 25.7143 PYGM 0 genome.wustl.edu 37 11 64522963 64522963 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 64522963 64522963 C T SNP PYGM ENST00000164139 human ensembl 74_37 -1 known missense c.728 p.R243H 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGM HGNC ENSG00000068976 58 0 0 47 12 20.339 HPX 0 genome.wustl.edu 37 11 6452540 6452540 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 6452540 6452540 A G SNP HPX ENST00000265983 human ensembl 74_37 -1 known silent c.1290 p.G430 0.951 superfamily_Hemopexin-like_dom,pirsf_Hemopexin_chordata pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Hemopexin_chordata - no_errors HPX HGNC ENSG00000110169 81 0 0 82 7 7.86517 TRIM3 0 genome.wustl.edu 37 11 6472626 6472626 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 6472626 6472626 G A SNP TRIM3 ENST00000345851 human ensembl 74_37 -1 known nonsense c.1576 p.R526* 1.000 pfscan_NHL_repeat_subgr pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM3 HGNC ENSG00000110171 82 0 0 44 6 12 SNX15 0 genome.wustl.edu 37 11 64802341 64802341 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 64802341 64802341 C T SNP SNX15 ENST00000377244 human ensembl 74_37 +1 known silent c.279 p.I93 0.010 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_MIT,pfam_Phox,superfamily_Phox,smart_Phox,smart_MIT,pfscan_Phox - no_errors SNX15 HGNC ENSG00000110025 34 0 0 41 9 18 VPS51 0 genome.wustl.edu 37 11 64876893 64876893 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 64876893 64876893 C T SNP VPS51 ENST00000279281 human ensembl 74_37 +1 known missense c.1585 p.R529C 1.000 NULL pfam_COG8,pfam_Vacuolar_sorting-assoc_54,pfam_COG_su2_N,pfam_RZZ-complex_Zw10,superfamily_Cullin_repeat-like_dom - no_errors VPS51 HGNC ENSG00000149823 52 0 0 21 18 46.1538 CAPN1 0 genome.wustl.edu 37 11 64977874 64977874 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 64977874 64977874 C T SNP CAPN1 ENST00000279247 human ensembl 74_37 +1 known silent c.2010 p.V670 0.982 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN1 HGNC ENSG00000014216 37 0 0 13 4 23.5294 MALAT1 0 genome.wustl.edu 37 11 65273657 65273657 + RNA SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 65273657 65273657 A G SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 54 0 0 29 16 35.5556 MUS81 0 genome.wustl.edu 37 11 65633355 65633355 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 65633355 65633355 C T SNP MUS81 ENST00000308110 human ensembl 74_37 +1 known missense c.1579 p.R527C 0.867 NULL pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_DNA_pol_b-like_N,smart_ERCC4_domain - no_errors MUS81 HGNC ENSG00000172732 85 0 0 57 7 10.9375 SART1 0 genome.wustl.edu 37 11 65743960 65743960 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 65743960 65743960 C T SNP SART1 ENST00000312397 human ensembl 74_37 +1 known missense c.1667 p.T556M 1.000 pfam_SART_1 pfam_SART_1 - no_errors SART1 HGNC ENSG00000175467 35 0 0 18 5 21.7391 KLC2 0 genome.wustl.edu 37 11 66033585 66033585 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 66033585 66033585 C T SNP KLC2 ENST00000316924 human ensembl 74_37 +1 known missense c.1624 p.R542C 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 27 0 0 17 4 19.0476 TMEM151A 0 genome.wustl.edu 37 11 66061810 66061810 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 66061810 66061810 G A SNP TMEM151A ENST00000327259 human ensembl 74_37 +1 known silent c.93 p.Q31 1.000 NULL NULL - no_errors TMEM151A HGNC ENSG00000179292 38 0 0 33 13 28.2609 TMEM151A 0 genome.wustl.edu 37 11 66061905 66061905 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 66061905 66061905 G A SNP TMEM151A ENST00000327259 human ensembl 74_37 +1 known missense c.188 p.R63H 1.000 NULL NULL - no_errors TMEM151A HGNC ENSG00000179292 21 0 0 9 4 30.7692 CD248 0 genome.wustl.edu 37 11 66083274 66083274 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 66083274 66083274 C T SNP CD248 ENST00000311330 human ensembl 74_37 -1 known missense c.1225 p.A409T 0.500 NULL pfam_C-type_lectin,pfam_EGF-like_Ca-bd_dom,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_C-type_lectin - no_errors CD248 HGNC ENSG00000174807 73 0 0 62 5 7.46269 SLC29A2 0 genome.wustl.edu 37 11 66130984 66130984 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 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 17 0 0 13 4 23.5294 PELI3 0 genome.wustl.edu 37 11 66235677 66235677 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 66235677 66235677 C T SNP PELI3 ENST00000320740 human ensembl 74_37 +1 known silent c.78 p.C26 0.001 NULL pfam_Pellino_fam - no_errors PELI3 HGNC ENSG00000174516 66 0 0 29 11 27.5 DPP3 0 genome.wustl.edu 37 11 66262922 66262922 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 66262922 66262922 C T SNP DPP3 ENST00000360510 human ensembl 74_37 +1 known silent c.1539 p.S513 0.964 pirsf_Dipeptidyl-peptase3 pirsf_Dipeptidyl-peptase3 - no_errors DPP3 HGNC ENSG00000254986 23 0 0 10 4 28.5714 RBM4 0 genome.wustl.edu 37 11 66411175 66411175 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 66411175 66411175 A G SNP RBM4 ENST00000310092 human ensembl 74_37 +1 known missense c.667 p.K223E 1.000 NULL pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors RBM4 HGNC ENSG00000173933 55 0 0 35 9 20.4545 RBM4B 0 genome.wustl.edu 37 11 66444123 66444123 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 66444123 66444123 G A SNP RBM4B ENST00000531036 human ensembl 74_37 -1 putative missense c.428 p.A143V 0.404 smart_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM4B HGNC ENSG00000173914 92 0 0 68 8 10.5263 SPTBN2 0 genome.wustl.edu 37 11 66456223 66456223 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 66456223 66456223 C T SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known silent c.6132 p.T2044 0.420 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 59 0 0 47 7 12.963 SPTBN2 0 genome.wustl.edu 37 11 66461764 66461764 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 66461764 66461764 G A SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known missense c.4349 p.A1450V 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 40 0 0 21 7 25 SPTBN2 0 genome.wustl.edu 37 11 66475077 66475077 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 66475077 66475077 G A SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known silent c.1563 p.A521 0.039 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 17 0 0 8 6 42.8571 SPTBN2 0 genome.wustl.edu 37 11 66475138 66475138 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 66475138 66475138 C T SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known missense c.1502 p.R501H 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 30 0 0 20 6 23.0769 DCHS1 0 genome.wustl.edu 37 11 6654194 6654194 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 6654194 6654194 C T SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known missense c.2549 p.R850H 0.977 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 71 0 0 36 10 21.7391 DCHS1 0 genome.wustl.edu 37 11 6661150 6661150 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 6661150 6661150 G A SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known silent c.1695 p.S565 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 58 0 0 47 5 9.61538 LRFN4 0 genome.wustl.edu 37 11 66626561 66626561 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 66626561 66626561 A G SNP LRFN4 ENST00000309602 human ensembl 74_37 +1 known missense c.1346 p.Y449C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN4 HGNC ENSG00000173621 67 0 0 31 11 26.1905 ADRBK1 0 genome.wustl.edu 37 11 67047125 67047125 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 67047125 67047125 T C SNP ADRBK1 ENST00000308595 human ensembl 74_37 +1 known missense c.395 p.V132A 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam 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 67 0 0 49 5 9.25926 ADRBK1 0 genome.wustl.edu 37 11 67052656 67052656 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 67052656 67052656 C T SNP ADRBK1 ENST00000308595 human ensembl 74_37 +1 known silent c.1902 p.C634 0.977 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors ADRBK1 HGNC ENSG00000173020 157 0 0 96 8 7.69231 SSH3 0 genome.wustl.edu 37 11 67077278 67077278 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 67077278 67077278 C T SNP SSH3 ENST00000308127 human ensembl 74_37 +1 known silent c.1248 p.G416 0.029 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH3 HGNC ENSG00000172830 44 0 0 29 13 30.9524 GSTP1 0 genome.wustl.edu 37 11 67352167 67352167 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 67352167 67352167 G A SNP GSTP1 ENST00000398606 human ensembl 74_37 +1 known silent c.156 p.Q52 1.000 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold,prints_GST_pi pfam_GST_C,pfam_Glutathione_S-Trfase_N,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_pi - no_errors GSTP1 HGNC ENSG00000084207 135 0 0 87 16 15.534 ALDH3B2 0 genome.wustl.edu 37 11 67432886 67432886 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 67432886 67432886 G A SNP ALDH3B2 ENST00000349015 human ensembl 74_37 -1 known silent c.576 p.G192 0.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH3B2 HGNC ENSG00000132746 73 0 0 46 4 8 TCIRG1 0 genome.wustl.edu 37 11 67816417 67816417 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 67816417 67816417 C T SNP TCIRG1 ENST00000265686 human ensembl 74_37 +1 known silent c.1626 p.G542 0.819 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors TCIRG1 HGNC ENSG00000110719 125 0 0 79 28 26.1682 SUV420H1 0 genome.wustl.edu 37 11 67957392 67957392 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 67957392 67957392 G A SNP SUV420H1 ENST00000304363 human ensembl 74_37 -1 known missense c.152 p.S51L 1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H1 HGNC ENSG00000110066 249 1 0.4 158 65 29.148 C11orf24 0 genome.wustl.edu 37 11 68029864 68029864 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 68029864 68029864 G A SNP C11orf24 ENST00000304271 human ensembl 74_37 -1 known missense c.599 p.A200V 0.000 NULL NULL - no_errors C11orf24 HGNC ENSG00000171067 48 0 0 31 10 24.3902 OR10A5 0 genome.wustl.edu 37 11 6867086 6867086 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 6867086 6867086 G T SNP OR10A5 ENST00000379831 human ensembl 74_37 +1 known missense c.185 p.S62I 0.427 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A5 HGNC ENSG00000166363 212 1 0.469484 130 38 22.619 OR2D2 0 genome.wustl.edu 37 11 6913396 6913396 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 6913396 6913396 G A SNP OR2D2 ENST00000299459 human ensembl 74_37 -1 known silent c.336 p.C112 0.997 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR2D2 HGNC ENSG00000166368 108 0 0 88 10 10.2041 OR2D3 0 genome.wustl.edu 37 11 6942872 6942872 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 6942872 6942872 G A SNP OR2D3 ENST00000317834 human ensembl 74_37 +1 known missense c.640 p.A214T 0.992 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 OR2D3 HGNC ENSG00000178358 56 0 0 41 12 22.6415 PPFIA1 0 genome.wustl.edu 37 11 70118424 70118424 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 70118424 70118424 G A SNP PPFIA1 ENST00000253925 human ensembl 74_37 +1 known missense c.146 p.R49H 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA1 HGNC ENSG00000131626 125 0 0 68 33 32.6733 SHANK2 0 genome.wustl.edu 37 11 70332069 70332069 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 70332069 70332069 G A SNP SHANK2 ENST00000338508 human ensembl 74_37 -1 known silent c.4332 p.S1444 0.806 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 87 0 0 63 18 22.2222 SHANK2 0 genome.wustl.edu 37 11 70333124 70333124 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 70333124 70333124 G A SNP SHANK2 ENST00000338508 human ensembl 74_37 -1 known missense c.3277 p.R1093W 1.000 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 27 0 0 18 6 25 RBMXL2 0 genome.wustl.edu 37 11 7111248 7111248 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 7111248 7111248 G A SNP RBMXL2 ENST00000306904 human ensembl 74_37 +1 known silent c.897 p.P299 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL2 HGNC ENSG00000170748 16 0 0 9 3 25 DHCR7 0 genome.wustl.edu 37 11 71150017 71150017 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 71150017 71150017 C T SNP DHCR7 ENST00000355527 human ensembl 74_37 -1 known missense c.739 p.A247T 1.000 pfam_Ergosterol_biosynth_ERG4_ERG24 pfam_Ergosterol_biosynth_ERG4_ERG24 - no_errors DHCR7 HGNC ENSG00000172893 70 0 0 34 13 27.6596 NUMA1 0 genome.wustl.edu 37 11 71725378 71725378 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 71725378 71725378 C T SNP NUMA1 ENST00000393695 human ensembl 74_37 -1 known silent c.3171 p.T1057 0.002 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 102 0 0 51 22 30.137 NUMA1 0 genome.wustl.edu 37 11 71725779 71725779 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 71725779 71725779 G A SNP NUMA1 ENST00000393695 human ensembl 74_37 -1 known missense c.2770 p.R924C 0.992 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 61 0 0 38 12 24 FOLR3 0 genome.wustl.edu 37 11 71850830 71850830 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 71850830 71850830 G A SNP FOLR3 ENST00000456237 human ensembl 74_37 +1 known silent c.819 p.A273 0.000 NULL pfam_Folate_rcpt-like - no_errors FOLR3 HGNC ENSG00000110203 46 0 0 25 8 24.2424 INPPL1 0 genome.wustl.edu 37 11 71939260 71939260 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 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 95 0 0 40 23 36.5079 EPS8L2 0 genome.wustl.edu 37 11 722405 722405 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 722405 722405 T C SNP EPS8L2 ENST00000318562 human ensembl 74_37 +1 known missense c.1064 p.V355A 0.980 NULL pfam_PTB,pfam_SH3_domain,pfam_PTB/PI_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_PTB/PI_dom,pfscan_SH3_domain - no_errors EPS8L2 HGNC ENSG00000177106 50 0 0 37 7 15.9091 PDE2A 0 genome.wustl.edu 37 11 72295250 72295250 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 72295250 72295250 C T SNP PDE2A ENST00000334456 human ensembl 74_37 -1 known missense c.1645 p.A549T 1.000 smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE2A HGNC ENSG00000186642 20 0 0 14 5 26.3158 ARAP1 0 genome.wustl.edu 37 11 72420943 72420943 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 72420943 72420943 C T SNP ARAP1 ENST00000393609 human ensembl 74_37 -1 known missense c.1495 p.D499N 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP1 HGNC ENSG00000186635 80 0 0 42 16 27.5862 P2RY2 0 genome.wustl.edu 37 11 72945327 72945327 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 72945327 72945327 C T SNP P2RY2 ENST00000311131 human ensembl 74_37 +1 known silent c.123 p.G41 0.641 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y2_rcpt,prints_GPCR_Rhodpsn,prints_P2Y4_rcpt - no_errors P2RY2 HGNC ENSG00000175591 103 0 0 50 21 29.5775 ARHGEF17 0 genome.wustl.edu 37 11 73070963 73070963 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 73070963 73070963 G A SNP ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known missense c.4172 p.S1391N 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 71 0 0 44 13 22.807 RAB6A 0 genome.wustl.edu 37 11 73429910 73429910 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 73429910 73429910 G A SNP RAB6A ENST00000310653 human ensembl 74_37 -1 known missense c.209 p.A70V 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB6A HGNC ENSG00000175582 134 0 0 89 35 28.2258 XRRA1 0 genome.wustl.edu 37 11 74563096 74563096 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 74563096 74563096 G A SNP XRRA1 ENST00000340360 human ensembl 74_37 -1 known missense c.1178 p.A393V 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC ENSG00000166435 136 0 0 75 33 30.5556 OLFML1 0 genome.wustl.edu 37 11 7509587 7509587 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 7509587 7509587 C T SNP OLFML1 ENST00000329293 human ensembl 74_37 +1 known missense c.359 p.A120V 0.675 NULL pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML1 HGNC ENSG00000183801 88 0 0 83 5 5.68182 UVRAG 0 genome.wustl.edu 37 11 75851844 75851844 + Missense_Mutation SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 75851844 75851844 T A SNP UVRAG ENST00000356136 human ensembl 74_37 +1 known missense c.1487 p.I496N 0.948 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors UVRAG HGNC ENSG00000198382 116 0 0 80 28 25.9259 UVRAG 0 genome.wustl.edu 37 11 75851877 75851877 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 75851877 75851877 C T SNP UVRAG ENST00000356136 human ensembl 74_37 +1 known missense c.1520 p.A507V 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors UVRAG HGNC ENSG00000198382 116 0 0 80 29 26.6055 TSKU 0 genome.wustl.edu 37 11 76507476 76507476 + Silent SNP T T G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 76507476 76507476 T G SNP TSKU ENST00000333090 human ensembl 74_37 +1 known silent c.816 p.A272 0.035 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors TSKU HGNC ENSG00000182704 45 0 0 24 3 11.1111 NDUFC2 0 genome.wustl.edu 37 11 77784094 77784094 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 77784094 77784094 C T SNP NDUFC2 ENST00000281031 human ensembl 74_37 -1 known missense c.260 p.R87H 0.993 pfam_NADH-UbQ_OxRdtase_b14.5b_su,pirsf_NADH-UbQ_OxRdtase_b14.5b_su pfam_NADH-UbQ_OxRdtase_b14.5b_su,pirsf_NADH-UbQ_OxRdtase_b14.5b_su - no_errors NDUFC2 HGNC ENSG00000151366 127 0 0 108 11 9.2437 OR5P3 0 genome.wustl.edu 37 11 7846790 7846790 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 7846790 7846790 G T SNP OR5P3 ENST00000328375 human ensembl 74_37 -1 known missense c.730 p.H244N 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5P3 HGNC ENSG00000182334 93 0 0 57 15 20.8333 OR5P3 0 genome.wustl.edu 37 11 7847232 7847232 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 7847232 7847232 A G SNP OR5P3 ENST00000328375 human ensembl 74_37 -1 known silent c.288 p.G96 0.001 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 OR5P3 HGNC ENSG00000182334 165 0 0 113 8 6.61157 NLRP10 0 genome.wustl.edu 37 11 7982197 7982197 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 7982197 7982197 G A SNP NLRP10 ENST00000328600 human ensembl 74_37 -1 known missense c.962 p.A321V 0.000 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP10 HGNC ENSG00000182261 126 0 0 69 33 32.3529 TUB 0 genome.wustl.edu 37 11 8119372 8119372 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 8119372 8119372 C T SNP TUB ENST00000305253 human ensembl 74_37 +1 known missense c.1162 p.R388W 1.000 pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C - no_errors TUB HGNC ENSG00000166402 116 0 0 67 34 33.6634 LMO1 0 genome.wustl.edu 37 11 8248580 8248580 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 8248580 8248580 G A SNP LMO1 ENST00000335790 human ensembl 74_37 -1 known missense c.307 p.R103W 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMO1 HGNC ENSG00000166407 22 0 0 10 10 50 LMO1 0 genome.wustl.edu 37 11 8248591 8248591 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 8248591 8248591 T C SNP LMO1 ENST00000335790 human ensembl 74_37 -1 known missense c.296 p.E99G 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMO1 HGNC ENSG00000166407 23 0 0 12 11 47.8261 PCF11 0 genome.wustl.edu 37 11 82868586 82868586 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 82868586 82868586 G A SNP PCF11 ENST00000298281 human ensembl 74_37 +1 known silent c.105 p.P35 1.000 superfamily_ENTH_VHS,smart_CID_dom pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors PCF11 HGNC ENSG00000165494 103 0 0 88 9 9.27835 C11orf73 0 genome.wustl.edu 37 11 86048431 86048431 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 86048431 86048431 C T SNP C11orf73 ENST00000278483 human ensembl 74_37 +1 known silent c.279 p.S93 1.000 pfam_DUF775 pfam_DUF775 - no_errors C11orf73 HGNC ENSG00000149196 129 0 0 105 14 11.7647 ME3 0 genome.wustl.edu 37 11 86267716 86267716 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 86267716 86267716 G A SNP ME3 ENST00000359636 human ensembl 74_37 -1 known missense c.346 p.R116W 1.000 pfam_Malic_N pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME3 HGNC ENSG00000151376 73 0 0 42 18 30 TSPAN4 0 genome.wustl.edu 37 11 865745 865745 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 865745 865745 G A SNP TSPAN4 ENST00000397397 human ensembl 74_37 +1 known missense c.484 p.A162T 0.346 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN4 HGNC ENSG00000214063 19 0 0 16 13 44.8276 GRM5 0 genome.wustl.edu 37 11 88300351 88300351 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 88300351 88300351 G A SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known missense c.2500 p.R834C 1.000 pfscan_GPCR_3_C 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,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 75 0 0 40 9 18.3673 CHORDC1 0 genome.wustl.edu 37 11 89938663 89938663 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 89938663 89938663 T C SNP CHORDC1 ENST00000320585 human ensembl 74_37 -1 known missense c.634 p.T212A 1.000 pfam_CHORD,superfamily_HSP20-like_chaperone pfam_CHORD,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors CHORDC1 HGNC ENSG00000110172 86 0 0 61 17 21.7949 FAT3 0 genome.wustl.edu 37 11 92507336 92507336 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 92507336 92507336 C T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.4325 p.A1442V 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 46 0 0 38 4 9.52381 MTNR1B 0 genome.wustl.edu 37 11 92715429 92715429 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 92715429 92715429 G A SNP MTNR1B ENST00000257068 human ensembl 74_37 +1 known missense c.1040 p.S347N 0.983 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 82 0 0 49 19 27.9412 VSTM5 0 genome.wustl.edu 37 11 93554356 93554356 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 93554356 93554356 C T SNP VSTM5 ENST00000409977 human ensembl 74_37 -1 known silent c.225 p.T75 0.017 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub - no_errors VSTM5 HGNC ENSG00000214376 10 0 0 15 5 25 HEPHL1 0 genome.wustl.edu 37 11 93796832 93796832 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 93796832 93796832 G A SNP HEPHL1 ENST00000315765 human ensembl 74_37 +1 known missense c.574 p.A192T 1.000 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPHL1 HGNC ENSG00000181333 135 0 0 100 6 5.66038 HEPHL1 0 genome.wustl.edu 37 11 93826690 93826690 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 93826690 93826690 G A SNP HEPHL1 ENST00000315765 human ensembl 74_37 +1 known missense c.2318 p.R773H 1.000 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPHL1 HGNC ENSG00000181333 224 1 0.444444 112 43 27.7419 PIWIL4 0 genome.wustl.edu 37 11 94326774 94326774 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 94326774 94326774 G A SNP PIWIL4 ENST00000299001 human ensembl 74_37 +1 known missense c.1117 p.A373T 0.277 pfam_PAZ_dom,superfamily_PAZ_dom,smart_PAZ_dom,pfscan_PAZ_dom pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL4 HGNC ENSG00000134627 121 0 0 76 22 22.449 IPO7 0 genome.wustl.edu 37 11 9457899 9457899 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 9457899 9457899 C T SNP IPO7 ENST00000379719 human ensembl 74_37 +1 known missense c.2254 p.R752C 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO7 HGNC ENSG00000205339 39 0 0 28 11 28.2051 AMOTL1 0 genome.wustl.edu 37 11 94599243 94599243 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 94599243 94599243 G A SNP AMOTL1 ENST00000433060 human ensembl 74_37 +1 known missense c.2398 p.A800T 0.995 pfam_Angiomotin_C pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL1 HGNC ENSG00000166025 64 0 0 47 16 25.3968 SBF2 0 genome.wustl.edu 37 11 9838554 9838554 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 9838554 9838554 G A SNP SBF2 ENST00000256190 human ensembl 74_37 -1 known missense c.3811 p.R1271C 1.000 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF2 HGNC ENSG00000133812 73 0 0 66 20 23.2558 UHRF1BP1L 0 genome.wustl.edu 37 12 100482858 100482858 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 100482858 100482858 C T SNP UHRF1BP1L ENST00000279907 human ensembl 74_37 -1 known missense c.856 p.A286T 0.143 NULL NULL - no_errors UHRF1BP1L HGNC ENSG00000111647 98 0 0 82 5 5.74713 GAS2L3 0 genome.wustl.edu 37 12 101018596 101018596 + Missense_Mutation SNP A A T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 101018596 101018596 A T SNP GAS2L3 ENST00000266754 human ensembl 74_37 +1 known missense c.2013 p.K671N 0.000 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L3 HGNC ENSG00000139354 106 0 0 62 31 33.3333 CLEC1B 0 genome.wustl.edu 37 12 10147759 10147759 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 10147759 10147759 G A SNP CLEC1B ENST00000298527 human ensembl 74_37 -1 known silent c.525 p.G175 0.824 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 CLEC1B HGNC ENSG00000165682 287 0 0 164 62 27.4336 SLC5A8 0 genome.wustl.edu 37 12 101588918 101588918 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 101588918 101588918 G A SNP SLC5A8 ENST00000536262 human ensembl 74_37 -1 known silent c.492 p.G164 0.131 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A8 HGNC ENSG00000256870 47 0 0 27 8 22.8571 UTP20 0 genome.wustl.edu 37 12 101720944 101720944 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 101720944 101720944 C T SNP UTP20 ENST00000261637 human ensembl 74_37 +1 known missense c.3127 p.R1043W 0.999 pfam_DRIM,superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 125 0 0 115 13 10.1562 CLEC9A 0 genome.wustl.edu 37 12 10206943 10206943 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 10206943 10206943 C T SNP CLEC9A ENST00000355819 human ensembl 74_37 +1 putative silent c.165 p.G55 0.401 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC9A HGNC ENSG00000197992 48 0 0 35 5 12.5 RAD52 0 genome.wustl.edu 37 12 1025613 1025613 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 1025613 1025613 C T SNP RAD52 ENST00000536177 human ensembl 74_37 -1 novel missense c.814 p.A272T 0.000 NULL pfam_Rad52_Rad22,tigrfam_DNA_recomb/repair_Rad52 - no_errors RAD52 HGNC ENSG00000002016 18 0 0 14 4 22.2222 C12orf42 0 genome.wustl.edu 37 12 103699756 103699756 + Missense_Mutation SNP A A T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 103699756 103699756 A T SNP C12orf42 ENST00000378113 human ensembl 74_37 -1 known missense c.627 p.N209K 0.001 NULL NULL - no_errors C12orf42 HGNC ENSG00000179088 211 0 0 162 54 25 GABARAPL1 0 genome.wustl.edu 37 12 10370695 10370695 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 10370695 10370695 C T SNP GABARAPL1 ENST00000266458 human ensembl 74_37 +1 known missense c.124 p.P42S 1.000 pfam_Atg8_fam,pfam_Atg12 pfam_Atg8_fam,pfam_Atg12 - no_errors GABARAPL1 HGNC ENSG00000139112 64 0 0 35 14 28.5714 C12orf42 0 genome.wustl.edu 37 12 103872137 103872137 + Missense_Mutation SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 103872137 103872137 T A SNP C12orf42 ENST00000378113 human ensembl 74_37 -1 known missense c.68 p.N23I 0.015 NULL NULL - no_errors C12orf42 HGNC ENSG00000179088 26 0 0 20 3 13.0435 STAB2 0 genome.wustl.edu 37 12 104136204 104136204 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 104136204 104136204 C T SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.5903 p.A1968V 0.057 smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 89 0 0 54 19 26.0274 ENSG00000257681 0 genome.wustl.edu 37 12 104157220 104157220 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 104157220 104157220 G A SNP ENSG00000257681 ENST00000550029 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-341G23.4 Clone_based_vega_gene ENSG00000257681 271 0 0 157 69 30.531 HSP90B1 0 genome.wustl.edu 37 12 104335416 104335416 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 104335416 104335416 C T SNP HSP90B1 ENST00000299767 human ensembl 74_37 +1 known missense c.1240 p.R414C 1.000 pirsf_Hsp90_fam,pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N - no_errors HSP90B1 HGNC ENSG00000166598 71 0 0 60 6 9.09091 TXNRD1 0 genome.wustl.edu 37 12 104682747 104682747 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 104682747 104682747 G T SNP TXNRD1 ENST00000429002 human ensembl 74_37 +1 known missense c.343 p.A115S 0.253 pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD1 HGNC ENSG00000198431 126 0 0 92 37 28.6822 KIAA1033 0 genome.wustl.edu 37 12 105531765 105531765 + Missense_Mutation SNP G G C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 105531765 105531765 G C SNP KIAA1033 ENST00000332180 human ensembl 74_37 +1 known missense c.1428 p.L476F 0.977 NULL NULL - no_errors KIAA1033 HGNC ENSG00000136051 75 0 0 44 18 29.0323 PWP1 0 genome.wustl.edu 37 12 108082253 108082253 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 108082253 108082253 G A SNP PWP1 ENST00000412830 human ensembl 74_37 +1 known missense c.101 p.R34H 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP1 HGNC ENSG00000136045 79 0 0 50 26 34.2105 FICD 0 genome.wustl.edu 37 12 108912521 108912521 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 108912521 108912521 C T SNP FICD ENST00000552695 human ensembl 74_37 +1 known missense c.646 p.R216C 1.000 NULL pfam_Fido,superfamily_Fido,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FICD HGNC ENSG00000198855 68 0 0 49 9 15.5172 FICD 0 genome.wustl.edu 37 12 108913112 108913112 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 108913112 108913112 C T SNP FICD ENST00000552695 human ensembl 74_37 +1 known missense c.1237 p.P413S 1.000 superfamily_Fido pfam_Fido,superfamily_Fido,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FICD HGNC ENSG00000198855 60 0 0 34 17 33.3333 SELPLG 0 genome.wustl.edu 37 12 109017688 109017688 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 109017688 109017688 C A SNP SELPLG ENST00000550948 human ensembl 74_37 -1 known missense c.396 p.Q132H 0.000 NULL NULL - no_errors SELPLG HGNC ENSG00000110876 77 0 0 60 5 7.69231 SELPLG 0 genome.wustl.edu 37 12 109017769 109017769 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 109017769 109017769 C A SNP SELPLG ENST00000550948 human ensembl 74_37 -1 known missense c.315 p.E105D 0.000 NULL NULL - no_errors SELPLG HGNC ENSG00000110876 57 0 0 37 11 22.9167 ACACB 0 genome.wustl.edu 37 12 109577464 109577464 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 109577464 109577464 C T SNP ACACB ENST00000338432 human ensembl 74_37 +1 known missense c.254 p.A85V 0.000 NULL pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 73 0 0 49 24 32.8767 ACACB 0 genome.wustl.edu 37 12 109639432 109639432 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 109639432 109639432 C T SNP ACACB ENST00000338432 human ensembl 74_37 +1 known missense c.2839 p.R947C 1.000 pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 97 0 0 53 24 31.1688 KCTD10 0 genome.wustl.edu 37 12 109898545 109898545 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 109898545 109898545 C T SNP KCTD10 ENST00000228495 human ensembl 74_37 -1 known missense c.283 p.A95T 1.000 pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD10 HGNC ENSG00000110906 72 0 0 34 11 24.4444 UBE3B 0 genome.wustl.edu 37 12 109962256 109962256 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 109962256 109962256 A G SNP UBE3B ENST00000342494 human ensembl 74_37 +1 known missense c.2516 p.D839G 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 45 0 0 50 4 7.40741 MVK 0 genome.wustl.edu 37 12 110019211 110019211 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 110019211 110019211 G A SNP MVK ENST00000228510 human ensembl 74_37 +1 known missense c.383 p.S128N 1.000 superfamily_Ribosomal_S5_D2-typ_fold,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 74 0 0 44 17 27.8689 TRPV4 0 genome.wustl.edu 37 12 110240894 110240894 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 110240894 110240894 C T SNP TRPV4 ENST00000261740 human ensembl 74_37 -1 known missense c.614 p.G205D 1.000 prints_TRPV1-4_channel,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 38 0 0 34 8 19.0476 TCHP 0 genome.wustl.edu 37 12 110350854 110350854 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 110350854 110350854 G A SNP TCHP ENST00000312777 human ensembl 74_37 +1 known missense c.1111 p.A371T 0.990 NULL NULL - no_errors TCHP HGNC ENSG00000139437 22 0 0 26 4 13.3333 GPN3 0 genome.wustl.edu 37 12 110906005 110906005 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 110906005 110906005 G A SNP GPN3 ENST00000537466 human ensembl 74_37 -1 known missense c.4 p.P2S 1.000 NULL pfam_Uncharacterised_ATP-bd,superfamily_P-loop_NTPase - no_errors GPN3 HGNC ENSG00000111231 40 0 0 23 12 34.2857 PPP1CC 0 genome.wustl.edu 37 12 111169698 111169698 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 111169698 111169698 A G SNP PPP1CC ENST00000340766 human ensembl 74_37 -1 known missense c.64 p.S22P 1.000 NULL pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP1CC HGNC ENSG00000186298 126 0 0 101 7 6.48148 ATXN2 0 genome.wustl.edu 37 12 111895132 111895132 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 111895132 111895132 C T SNP ATXN2 ENST00000377617 human ensembl 74_37 -1 known silent c.3402 p.A1134 0.654 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2 HGNC ENSG00000204842 66 0 0 68 7 9.33333 ALDH2 0 genome.wustl.edu 37 12 112221101 112221101 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 112221101 112221101 C T SNP ALDH2 ENST00000261733 human ensembl 74_37 +1 known missense c.359 p.A120V 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 38 0 0 21 6 22.2222 NAA25 0 genome.wustl.edu 37 12 112513574 112513574 + Silent SNP A A T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 112513574 112513574 A T SNP NAA25 ENST00000261745 human ensembl 74_37 -1 known silent c.684 p.I228 0.950 NULL pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC ENSG00000111300 55 0 0 41 15 26.7857 TRAFD1 0 genome.wustl.edu 37 12 112589844 112589844 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 112589844 112589844 G A SNP TRAFD1 ENST00000257604 human ensembl 74_37 +1 known missense c.1519 p.A507T 0.027 NULL superfamily_TRAF-like - no_errors TRAFD1 HGNC ENSG00000135148 185 0 0 120 46 27.7108 HECTD4 0 genome.wustl.edu 37 12 112632704 112632704 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 112632704 112632704 C T SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.8218 p.A2740T 0.991 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 17 0 0 15 7 31.8182 HECTD4 0 genome.wustl.edu 37 12 112657288 112657288 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 112657288 112657288 G A SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known nonsense c.6460 p.R2154* 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 33 0 0 14 8 36.3636 HECTD4 0 genome.wustl.edu 37 12 112721041 112721041 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 112721041 112721041 G A SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known silent c.969 p.G323 0.003 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 45 0 0 45 5 10 DTX1 0 genome.wustl.edu 37 12 113515327 113515327 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 113515327 113515327 G T SNP DTX1 ENST00000257600 human ensembl 74_37 +1 known missense c.358 p.A120S 1.000 pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX1 HGNC ENSG00000135144 32 0 0 22 9 29.0323 RASAL1 0 genome.wustl.edu 37 12 113545988 113545988 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 113545988 113545988 G A SNP RASAL1 ENST00000546530 human ensembl 74_37 -1 known nonsense c.1417 p.R473* 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_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 21 0 0 19 7 26.9231 DDX54 0 genome.wustl.edu 37 12 113612541 113612541 + Silent SNP A A T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 113612541 113612541 A T SNP DDX54 ENST00000314045 human ensembl 74_37 -1 known silent c.972 p.A324 0.228 superfamily_P-loop_NTPase pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DBP10CT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX54 HGNC ENSG00000123064 33 0 0 20 7 25.9259 ERC1 0 genome.wustl.edu 37 12 1137664 1137664 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 1137664 1137664 G T SNP ERC1 ENST00000360905 human ensembl 74_37 +1 known missense c.595 p.A199S 1.000 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin - no_errors ERC1 HGNC ENSG00000082805 82 0 0 51 16 23.8806 PLBD2 0 genome.wustl.edu 37 12 113822727 113822727 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 113822727 113822727 T C SNP PLBD2 ENST00000280800 human ensembl 74_37 +1 known missense c.1190 p.V397A 1.000 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD2 HGNC ENSG00000151176 21 0 0 11 6 35.2941 SDS 0 genome.wustl.edu 37 12 113830802 113830802 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 113830802 113830802 C T SNP SDS ENST00000257549 human ensembl 74_37 -1 known missense c.931 p.A311T 0.996 superfamily_Trp_syn_b_sub_like_PLP_eny_SF pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF - no_errors SDS HGNC ENSG00000135094 110 0 0 74 38 33.9286 SDSL 0 genome.wustl.edu 37 12 113875760 113875760 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 113875760 113875760 G A SNP SDSL ENST00000345635 human ensembl 74_37 +1 known missense c.866 p.R289Q 0.280 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF - no_errors SDSL HGNC ENSG00000139410 184 0 0 112 35 23.8095 FBXO21 0 genome.wustl.edu 37 12 117604880 117604880 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 117604880 117604880 G A SNP FBXO21 ENST00000330622 human ensembl 74_37 -1 known missense c.1016 p.A339V 0.951 superfamily_F-box_dom pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom,tigrfam_Hemimethylated_DNA-bd_dom - no_errors FBXO21 HGNC ENSG00000135108 43 0 0 20 16 44.4444 NOS1 0 genome.wustl.edu 37 12 117672544 117672544 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 117672544 117672544 G A SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.3061 p.R1021C 1.000 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 23 0 0 15 5 25 NOS1 0 genome.wustl.edu 37 12 117705930 117705930 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 117705930 117705930 T C SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.1859 p.N620S 0.993 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 57 0 0 51 17 25 KSR2 0 genome.wustl.edu 37 12 118105353 118105353 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 118105353 118105353 C T SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known missense c.1097 p.R366H 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 33 0 0 21 10 32.2581 KSR2 0 genome.wustl.edu 37 12 118199014 118199014 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 118199014 118199014 C T SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known missense c.788 p.R263H 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 33 0 0 20 5 20 VSIG10 0 genome.wustl.edu 37 12 118506296 118506296 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 118506296 118506296 G A SNP VSIG10 ENST00000359236 human ensembl 74_37 -1 known missense c.1453 p.R485C 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VSIG10 HGNC ENSG00000176834 60 0 0 52 12 18.75 VSIG10 0 genome.wustl.edu 37 12 118517172 118517172 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 118517172 118517172 C T SNP VSIG10 ENST00000359236 human ensembl 74_37 -1 known missense c.904 p.A302T 0.863 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VSIG10 HGNC ENSG00000176834 63 0 0 46 30 39.4737 TAOK3 0 genome.wustl.edu 37 12 118627718 118627718 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 118627718 118627718 C T SNP TAOK3 ENST00000392533 human ensembl 74_37 -1 known missense c.1223 p.G408D 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 TAOK3 HGNC ENSG00000135090 96 0 0 59 26 30.5882 SUDS3 0 genome.wustl.edu 37 12 118828947 118828947 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 118828947 118828947 G A SNP SUDS3 ENST00000397564 human ensembl 74_37 +1 known missense c.380 p.R127Q 1.000 pfam_Sds3 pfam_Sds3 - no_errors SUDS3 HGNC ENSG00000111707 127 0 0 88 27 23.4783 SRRM4 0 genome.wustl.edu 37 12 119588980 119588980 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 119588980 119588980 C A SNP SRRM4 ENST00000267260 human ensembl 74_37 +1 known missense c.1235 p.A412D 0.998 NULL NULL - no_errors SRRM4 HGNC ENSG00000139767 81 0 0 60 28 31.8182 CIT 0 genome.wustl.edu 37 12 120142248 120142248 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 120142248 120142248 G A SNP CIT ENST00000261833 human ensembl 74_37 -1 known missense c.5098 p.L1700F 1.000 pfam_Citron,smart_Citron,pirsf_Citron_Rho-interacting_kinase pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CIT HGNC ENSG00000122966 68 0 0 29 17 36.9565 RAB35 0 genome.wustl.edu 37 12 120546405 120546405 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 120546405 120546405 C T SNP RAB35 ENST00000544304 human ensembl 74_37 -1 known missense c.155 p.S52N 0.002 NULL NULL - no_errors RAB35 HGNC ENSG00000111737 8 0 0 5 5 50 ACADS 0 genome.wustl.edu 37 12 121175675 121175675 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 121175675 121175675 G A SNP ACADS ENST00000242592 human ensembl 74_37 +1 known missense c.508 p.A170T 1.000 pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADS HGNC ENSG00000122971 40 0 0 23 9 28.125 ACADS 0 genome.wustl.edu 37 12 121177116 121177116 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 121177116 121177116 C T SNP ACADS ENST00000242592 human ensembl 74_37 +1 known silent c.1104 p.G368 0.475 pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADS HGNC ENSG00000122971 31 0 0 21 6 22.2222 SPPL3 0 genome.wustl.edu 37 12 121205248 121205248 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 121205248 121205248 G A SNP SPPL3 ENST00000353487 human ensembl 74_37 -1 known missense c.922 p.R308C 1.000 pfam_Peptidase_A22B_SPP,smart_Preselin/SPP pfam_Peptidase_A22B_SPP,smart_Preselin/SPP - no_errors SPPL3 HGNC ENSG00000157837 38 0 0 39 14 26.4151 ENSG00000271769 0 genome.wustl.edu 37 12 121438773 121438773 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 121438773 121438773 G A SNP ENSG00000271769 ENST00000606238 human ensembl 74_37 -1 known rna NULL NULL 0.161 - - - no_errors RP11-216P16.2 Clone_based_vega_gene ENSG00000271769 15 0 0 9 5 35.7143 WDR66 0 genome.wustl.edu 37 12 122359496 122359496 + Missense_Mutation SNP A A C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 122359496 122359496 A C SNP WDR66 ENST00000288912 human ensembl 74_37 +1 known missense c.285 p.E95D 0.004 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 106 0 0 98 8 7.54717 WDR66 0 genome.wustl.edu 37 12 122372182 122372182 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 122372182 122372182 C T SNP WDR66 ENST00000288912 human ensembl 74_37 +1 known silent c.918 p.C306 0.353 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 40 0 0 29 7 19.4444 WDR66 0 genome.wustl.edu 37 12 122396992 122396992 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 122396992 122396992 G A SNP WDR66 ENST00000288912 human ensembl 74_37 +1 known missense c.2125 p.A709T 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 167 1 0.595238 109 42 27.8146 B3GNT4 0 genome.wustl.edu 37 12 122691165 122691165 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 122691165 122691165 G A SNP B3GNT4 ENST00000324189 human ensembl 74_37 +1 known missense c.367 p.A123T 1.000 NULL pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT4 HGNC ENSG00000176383 200 0 0 160 9 5.32544 VPS33A 0 genome.wustl.edu 37 12 122716928 122716928 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 122716928 122716928 G A SNP VPS33A ENST00000267199 human ensembl 74_37 -1 known silent c.1656 p.G552 0.010 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS33A HGNC ENSG00000139719 92 0 0 68 6 8.10811 HCAR1 0 genome.wustl.edu 37 12 123214781 123214781 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 123214781 123214781 C T SNP HCAR1 ENST00000356987 human ensembl 74_37 -1 known missense c.106 p.A36T 0.997 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors HCAR1 HGNC ENSG00000196917 45 0 0 32 4 11.1111 LRP6 0 genome.wustl.edu 37 12 12334196 12334196 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 12334196 12334196 C T SNP LRP6 ENST00000261349 human ensembl 74_37 -1 known missense c.1154 p.R385H 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP6 HGNC ENSG00000070018 127 0 0 115 9 7.25806 MPHOSPH9 0 genome.wustl.edu 37 12 123687564 123687564 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 123687564 123687564 C T SNP MPHOSPH9 ENST00000392425 human ensembl 74_37 -1 known missense c.932 p.G311D 0.009 NULL superfamily_Prefoldin - no_errors MPHOSPH9 HGNC ENSG00000051825 165 0 0 126 45 26.3158 RILPL2 0 genome.wustl.edu 37 12 123915117 123915117 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 123915117 123915117 C T SNP RILPL2 ENST00000280571 human ensembl 74_37 -1 known silent c.429 p.Q143 1.000 pfam_RILP pfam_RILP - no_errors RILPL2 HGNC ENSG00000150977 130 0 0 95 5 5 RILPL1 0 genome.wustl.edu 37 12 123957201 123957201 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 123957201 123957201 G A SNP RILPL1 ENST00000376874 human ensembl 74_37 -1 known missense c.1096 p.R366C 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,pfam_RILP - no_errors RILPL1 HGNC ENSG00000188026 19 0 0 8 4 33.3333 GTF2H3 0 genome.wustl.edu 37 12 124144112 124144112 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 124144112 124144112 C A SNP GTF2H3 ENST00000543341 human ensembl 74_37 +1 known missense c.665 p.S222Y 1.000 pfam_TFIIH_Tfb4/p34,tigrfam_TFIIH_Tfb4/p34 pfam_TFIIH_Tfb4/p34,tigrfam_TFIIH_Tfb4/p34 - no_errors GTF2H3 HGNC ENSG00000111358 42 0 0 31 14 31.1111 DNAH10 0 genome.wustl.edu 37 12 124270301 124270301 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 124270301 124270301 G A SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known silent c.1056 p.T352 0.005 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 68 0 0 43 12 21.8182 DNAH10 0 genome.wustl.edu 37 12 124337847 124337847 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 124337847 124337847 C T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.6032 p.S2011L 1.000 superfamily_P-loop_NTPase 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 29 0 0 14 4 22.2222 CCDC92 0 genome.wustl.edu 37 12 124422003 124422003 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 124422003 124422003 C T SNP CCDC92 ENST00000238156 human ensembl 74_37 -1 known missense c.598 p.E200K 1.000 NULL NULL - no_errors CCDC92 HGNC ENSG00000119242 33 0 0 27 6 18.1818 FAM101A 0 genome.wustl.edu 37 12 124798908 124798908 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 124798908 124798908 G A SNP FAM101A ENST00000389727 human ensembl 74_37 +1 known missense c.488 p.R163H 0.475 NULL NULL - no_errors FAM101A HGNC ENSG00000178882 75 0 0 51 4 7.27273 NCOR2 0 genome.wustl.edu 37 12 124857100 124857100 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 124857100 124857100 C T SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.2275 p.A759T 0.186 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 39 0 0 18 16 47.0588 DHX37 0 genome.wustl.edu 37 12 125448952 125448952 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 125448952 125448952 C T SNP DHX37 ENST00000308736 human ensembl 74_37 -1 known missense c.2033 p.G678D 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX37 HGNC ENSG00000150990 29 0 0 15 11 42.3077 TMEM132B 0 genome.wustl.edu 37 12 125900205 125900205 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 125900205 125900205 G A SNP TMEM132B ENST00000299308 human ensembl 74_37 +1 known missense c.1073 p.R358H 0.000 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 43 0 0 43 12 21.8182 TMEM132B 0 genome.wustl.edu 37 12 126138478 126138478 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 126138478 126138478 G A SNP TMEM132B ENST00000299308 human ensembl 74_37 +1 known missense c.2459 p.R820H 0.647 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 85 0 0 61 26 29.8851 DUSP16 0 genome.wustl.edu 37 12 12630760 12630760 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 12630760 12630760 C T SNP DUSP16 ENST00000228862 human ensembl 74_37 -1 known silent c.1005 p.T335 0.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP16 HGNC ENSG00000111266 59 0 0 45 21 31.8182 ERC1 0 genome.wustl.edu 37 12 1299205 1299205 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 1299205 1299205 G A SNP ERC1 ENST00000360905 human ensembl 74_37 +1 known missense c.2338 p.A780T 1.000 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin - no_errors ERC1 HGNC ENSG00000082805 97 0 0 84 6 6.66667 FZD10 0 genome.wustl.edu 37 12 130647640 130647640 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 130647640 130647640 T C SNP FZD10 ENST00000539839 human ensembl 74_37 +1 known missense c.55 p.Y19H 1.000 NULL NULL - no_errors FZD10 HGNC ENSG00000111432 23 0 0 8 5 38.4615 PIWIL1 0 genome.wustl.edu 37 12 130842068 130842068 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 130842068 130842068 A G SNP PIWIL1 ENST00000245255 human ensembl 74_37 +1 known silent c.1635 p.L545 0.945 superfamily_RNaseH-like_dom pfam_Piwi,pfam_PAZ_dom,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL1 HGNC ENSG00000125207 103 0 0 64 24 27.2727 RIMBP2 0 genome.wustl.edu 37 12 130919323 130919323 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 130919323 130919323 C T SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known missense c.2158 p.A720T 0.980 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 67 0 0 35 12 25.5319 SFSWAP 0 genome.wustl.edu 37 12 132239022 132239022 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 132239022 132239022 G A SNP SFSWAP ENST00000261674 human ensembl 74_37 +1 known missense c.1432 p.V478I 1.000 pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC ENSG00000061936 56 0 0 62 4 6.06061 ULK1 0 genome.wustl.edu 37 12 132399917 132399917 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 132399917 132399917 G A SNP ULK1 ENST00000321867 human ensembl 74_37 +1 known silent c.1560 p.T520 0.000 pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ENSG00000177169 24 0 0 19 4 17.3913 GSG1 0 genome.wustl.edu 37 12 13243486 13243486 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 13243486 13243486 G T SNP GSG1 ENST00000324458 human ensembl 74_37 -1 known missense c.315 p.S105R 0.996 pfam_GSG-1 pfam_GSG-1 - no_errors GSG1 HGNC ENSG00000111305 81 0 0 53 23 30.2632 EP400 0 genome.wustl.edu 37 12 132514593 132514593 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 132514593 132514593 C A SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.5752 p.L1918M 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 132 0 0 133 8 5.67376 EP400 0 genome.wustl.edu 37 12 132529374 132529374 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 132529374 132529374 C T SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.6768 p.D2256 0.997 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 79 0 0 38 13 25.4902 POLE 0 genome.wustl.edu 37 12 133256788 133256788 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 133256788 133256788 C T SNP POLE ENST00000320574 human ensembl 74_37 -1 known silent c.306 p.P102 0.029 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 130 0 0 108 6 5.26316 ANKLE2 0 genome.wustl.edu 37 12 133303972 133303972 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 133303972 133303972 G A SNP ANKLE2 ENST00000357997 human ensembl 74_37 -1 known silent c.2673 p.G891 0.000 NULL pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom - no_errors ANKLE2 HGNC ENSG00000176915 11 0 0 6 5 45.4545 GOLGA3 0 genome.wustl.edu 37 12 133381403 133381403 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 133381403 133381403 G A SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known missense c.1496 p.A499V 0.985 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 95 0 0 56 28 33.3333 GOLGA3 0 genome.wustl.edu 37 12 133385136 133385136 + Splice_Site SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 133385136 133385136 C T SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known splice_site c.520-1 e4-1 1.000 - - - no_errors GOLGA3 HGNC ENSG00000090615 247 0 0 193 16 7.6555 ZNF140 0 genome.wustl.edu 37 12 133683228 133683228 + Missense_Mutation SNP A A C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 133683228 133683228 A C SNP ZNF140 ENST00000355557 human ensembl 74_37 +1 known missense c.1365 p.E455D 0.810 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 ZNF140 HGNC ENSG00000196387 93 0 0 61 15 19.7368 GRIN2B 0 genome.wustl.edu 37 12 13717182 13717182 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 13717182 13717182 G A SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known missense c.2990 p.A997V 0.984 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000273079 65 0 0 32 13 28.8889 C12orf60 0 genome.wustl.edu 37 12 14976105 14976105 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 14976105 14976105 A G SNP C12orf60 ENST00000330828 human ensembl 74_37 +1 known missense c.236 p.D79G 0.000 NULL NULL - no_errors C12orf60 HGNC ENSG00000182993 128 1 0.775194 92 28 23.3333 C12orf60 0 genome.wustl.edu 37 12 14976279 14976279 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 14976279 14976279 A G SNP C12orf60 ENST00000330828 human ensembl 74_37 +1 known missense c.410 p.E137G 0.588 NULL NULL - no_errors C12orf60 HGNC ENSG00000182993 125 0 0 99 6 5.71429 C12orf60 0 genome.wustl.edu 37 12 14976485 14976485 + Missense_Mutation SNP T T G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 14976485 14976485 T G SNP C12orf60 ENST00000330828 human ensembl 74_37 +1 known missense c.616 p.S206A 0.085 NULL NULL - no_errors C12orf60 HGNC ENSG00000182993 76 0 0 67 22 24.7191 EPS8 0 genome.wustl.edu 37 12 15819381 15819381 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 15819381 15819381 C T SNP EPS8 ENST00000281172 human ensembl 74_37 -1 known missense c.592 p.A198T 0.971 NULL pfam_PTB,pfam_SH3_domain,pfam_PTB/PI_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8 HGNC ENSG00000151491 52 0 0 39 7 15.2174 LMO3 0 genome.wustl.edu 37 12 16704207 16704207 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 16704207 16704207 C T SNP LMO3 ENST00000541295 human ensembl 74_37 -1 known silent c.441 p.T147 0.993 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMO3 HGNC ENSG00000048540 106 0 0 87 8 8.42105 PIK3C2G 0 genome.wustl.edu 37 12 18491429 18491429 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 18491429 18491429 C T SNP PIK3C2G ENST00000538779 human ensembl 74_37 +1 known nonsense c.1342 p.Q448* 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC ENSG00000139144 135 0 0 83 31 27.193 PLEKHA5 0 genome.wustl.edu 37 12 19427794 19427794 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 19427794 19427794 G A SNP PLEKHA5 ENST00000317589 human ensembl 74_37 +1 known missense c.1172 p.R391H 0.884 NULL pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA5 HGNC ENSG00000052126 72 0 0 66 6 8.33333 CACNA2D4 0 genome.wustl.edu 37 12 2024074 2024074 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 2024074 2024074 G A SNP CACNA2D4 ENST00000382722 human ensembl 74_37 -1 known silent c.255 p.G85 0.259 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D4 HGNC ENSG00000151062 75 0 0 65 7 9.72222 PYROXD1 0 genome.wustl.edu 37 12 21614991 21614991 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 21614991 21614991 C T SNP PYROXD1 ENST00000240651 human ensembl 74_37 +1 known silent c.930 p.C310 0.989 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase - no_errors PYROXD1 HGNC ENSG00000121350 64 0 0 48 8 14.2857 RECQL 0 genome.wustl.edu 37 12 21630862 21630862 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 21630862 21630862 C T SNP RECQL ENST00000421138 human ensembl 74_37 -1 known missense c.742 p.A248T 0.021 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_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC ENSG00000004700 82 0 0 87 5 5.43478 ETNK1 0 genome.wustl.edu 37 12 22797200 22797200 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 22797200 22797200 G A SNP ETNK1 ENST00000335148 human ensembl 74_37 +1 known missense c.739 p.G247S 0.000 NULL superfamily_Kinase-like_dom - no_errors ETNK1 HGNC ENSG00000139163 59 0 0 49 17 25.7576 SOX5 0 genome.wustl.edu 37 12 23687401 23687401 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 23687401 23687401 C T SNP SOX5 ENST00000451604 human ensembl 74_37 -1 known missense c.2044 p.A682T 0.998 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX5 HGNC ENSG00000134532 45 0 0 18 6 25 SOX5 0 genome.wustl.edu 37 12 23689453 23689453 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 23689453 23689453 C T SNP SOX5 ENST00000451604 human ensembl 74_37 -1 known missense c.1922 p.R641H 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX5 HGNC ENSG00000134532 74 0 0 57 8 12.3077 KRAS 0 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 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 29 0 0 21 6 22.2222 IQSEC3 0 genome.wustl.edu 37 12 266244 266244 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 266244 266244 G A SNP IQSEC3 ENST00000326261 human ensembl 74_37 +1 known missense c.2207 p.R736H 1.000 pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC3 HGNC ENSG00000120645 17 0 0 8 4 33.3333 CACNA1C 0 genome.wustl.edu 37 12 2788716 2788716 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 2788716 2788716 C T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.5198 p.A1733V 0.991 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 19 0 0 9 4 30.7692 FKBP4 0 genome.wustl.edu 37 12 2907922 2907922 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 2907922 2907922 C T SNP FKBP4 ENST00000001008 human ensembl 74_37 +1 known silent c.444 p.G148 0.174 NULL pfam_PPIase_FKBP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP4 HGNC ENSG00000004478 133 0 0 104 27 20.6107 IPO8 0 genome.wustl.edu 37 12 30837276 30837276 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 30837276 30837276 A G SNP IPO8 ENST00000256079 human ensembl 74_37 -1 known silent c.282 p.D94 0.930 pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO8 HGNC ENSG00000133704 128 0 0 118 33 21.8543 TSPAN11 0 genome.wustl.edu 37 12 31116918 31116918 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 31116918 31116918 C T SNP TSPAN11 ENST00000261177 human ensembl 74_37 +1 known missense c.242 p.A81V 1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN11 HGNC ENSG00000110900 75 0 0 62 8 11.4286 SYT10 0 genome.wustl.edu 37 12 33538169 33538169 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 33538169 33538169 G A SNP SYT10 ENST00000228567 human ensembl 74_37 -1 known missense c.1135 p.R379C 0.980 superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT10 HGNC ENSG00000110975 76 0 0 53 6 10.1695 KIF21A 0 genome.wustl.edu 37 12 39716590 39716590 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 39716590 39716590 C T SNP KIF21A ENST00000395670 human ensembl 74_37 -1 known missense c.3551 p.G1184D 1.000 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 162 0 0 114 39 25.4902 KIF21A 0 genome.wustl.edu 37 12 39726490 39726490 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 39726490 39726490 C T SNP KIF21A ENST00000395670 human ensembl 74_37 -1 known missense c.2759 p.R920H 1.000 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 79 0 0 66 14 17.5 SLC2A13 0 genome.wustl.edu 37 12 40345052 40345052 + Silent SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 40345052 40345052 T A SNP SLC2A13 ENST00000380858 human ensembl 74_37 -1 putative silent c.1041 p.V347 1.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt - no_errors SLC2A13 HGNC ENSG00000151229 50 0 0 49 13 20.9677 CNTN1 0 genome.wustl.edu 37 12 41408099 41408099 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 41408099 41408099 C T SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known missense c.2183 p.A728V 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN1 HGNC ENSG00000018236 54 0 0 40 9 18.3673 KDM5A 0 genome.wustl.edu 37 12 416652 416652 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 416652 416652 G A SNP KDM5A ENST00000399788 human ensembl 74_37 -1 known missense c.3898 p.L1300F 1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 39 0 0 37 12 24.4898 PDZRN4 0 genome.wustl.edu 37 12 41966851 41966851 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 41966851 41966851 A G SNP PDZRN4 ENST00000402685 human ensembl 74_37 +1 known missense c.2270 p.D757G 1.000 NULL pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 188 0 0 126 41 24.5509 PDZRN4 0 genome.wustl.edu 37 12 41967300 41967300 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 41967300 41967300 C T SNP PDZRN4 ENST00000402685 human ensembl 74_37 +1 known nonsense c.2719 p.R907* 1.000 NULL pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 152 0 0 130 9 6.47482 PRICKLE1 0 genome.wustl.edu 37 12 42858589 42858589 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 42858589 42858589 G A SNP PRICKLE1 ENST00000345127 human ensembl 74_37 -1 known missense c.1247 p.T416M 0.999 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE1 HGNC ENSG00000139174 54 0 0 43 12 21.8182 PRICKLE1 0 genome.wustl.edu 37 12 42858777 42858777 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 42858777 42858777 C T SNP PRICKLE1 ENST00000345127 human ensembl 74_37 -1 known silent c.1059 p.S353 0.174 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE1 HGNC ENSG00000139174 168 1 0.591716 87 49 36.0294 PRICKLE1 0 genome.wustl.edu 37 12 42860064 42860064 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 42860064 42860064 C T SNP PRICKLE1 ENST00000345127 human ensembl 74_37 -1 known missense c.707 p.R236H 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE1 HGNC ENSG00000139174 76 0 0 35 13 27.0833 ADAMTS20 0 genome.wustl.edu 37 12 43826209 43826209 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 43826209 43826209 G A SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known silent c.2994 p.G998 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 115 0 0 75 35 31.8182 ADAMTS20 0 genome.wustl.edu 37 12 43944883 43944883 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 43944883 43944883 G A SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known silent c.282 p.T94 0.995 pfam_Peptidase_M12B_N pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 51 0 0 36 3 7.69231 PUS7L 0 genome.wustl.edu 37 12 44130389 44130389 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 44130389 44130389 C T SNP PUS7L ENST00000344862 human ensembl 74_37 -1 known missense c.1520 p.R507H 1.000 pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD - no_errors PUS7L HGNC ENSG00000129317 155 0 0 141 8 5.36913 NELL2 0 genome.wustl.edu 37 12 44926433 44926433 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 44926433 44926433 A G SNP NELL2 ENST00000437801 human ensembl 74_37 -1 known missense c.1885 p.Y629H 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC ENSG00000184613 106 0 0 113 7 5.83333 ANO6 0 genome.wustl.edu 37 12 45822925 45822925 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 45822925 45822925 C T SNP ANO6 ENST00000320560 human ensembl 74_37 +1 known missense c.2564 p.A855V 0.903 pfam_Anoctamin pfam_Anoctamin - no_errors ANO6 HGNC ENSG00000177119 70 0 0 71 6 7.79221 ARID2 0 genome.wustl.edu 37 12 46246417 46246417 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 46246417 46246417 G A SNP ARID2 ENST00000334344 human ensembl 74_37 +1 known missense c.4511 p.R1504Q 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 147 0 0 101 9 8.18182 SLC38A1 0 genome.wustl.edu 37 12 46602891 46602891 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 46602891 46602891 T C SNP SLC38A1 ENST00000398637 human ensembl 74_37 -1 known missense c.334 p.T112A 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A1 HGNC ENSG00000111371 57 0 0 49 5 9.25926 RPAP3 0 genome.wustl.edu 37 12 48073291 48073291 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 48073291 48073291 C T SNP RPAP3 ENST00000005386 human ensembl 74_37 -1 known silent c.1272 p.P424 0.028 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors RPAP3 HGNC ENSG00000005175 38 0 0 29 9 23.6842 HDAC7 0 genome.wustl.edu 37 12 48188645 48188645 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 48188645 48188645 G A SNP HDAC7 ENST00000380610 human ensembl 74_37 -1 known silent c.1407 p.G469 0.005 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC7 HGNC ENSG00000061273 48 0 0 25 11 30.5556 VDR 0 genome.wustl.edu 37 12 48240547 48240547 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 48240547 48240547 G A SNP VDR ENST00000229022 human ensembl 74_37 -1 known missense c.800 p.A267V 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_VitD_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors VDR HGNC ENSG00000111424 79 0 0 53 28 34.5679 GALNT8 0 genome.wustl.edu 37 12 4835984 4835984 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 4835984 4835984 G A SNP GALNT8 ENST00000252318 human ensembl 74_37 +1 known silent c.498 p.T166 0.002 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT8 HGNC ENSG00000130035 106 0 0 64 15 18.9873 TMEM106C 0 genome.wustl.edu 37 12 48361942 48361942 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 48361942 48361942 G A SNP TMEM106C ENST00000429772 human ensembl 74_37 +1 known missense c.683 p.G228D 1.000 pfam_DUF1356_TMEM106 pfam_DUF1356_TMEM106 - no_errors TMEM106C HGNC ENSG00000134291 80 0 0 55 5 8.33333 COL2A1 0 genome.wustl.edu 37 12 48369182 48369182 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 48369182 48369182 G A SNP COL2A1 ENST00000380518 human ensembl 74_37 -1 known silent c.3804 p.S1268 1.000 smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC ENSG00000139219 45 0 0 27 15 35.7143 SENP1 0 genome.wustl.edu 37 12 48477397 48477397 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 48477397 48477397 G A SNP SENP1 ENST00000004980 human ensembl 74_37 -1 known nonsense c.529 p.R177* 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP1 HGNC ENSG00000079387 54 0 0 53 12 18.4615 PFKM 0 genome.wustl.edu 37 12 48534513 48534513 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 48534513 48534513 G A SNP PFKM ENST00000312352 human ensembl 74_37 +1 known silent c.1200 p.S400 0.000 superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKM HGNC ENSG00000152556 75 0 0 38 17 30.9091 ASB8 0 genome.wustl.edu 37 12 48543596 48543596 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 48543596 48543596 G A SNP ASB8 ENST00000317697 human ensembl 74_37 -1 known silent c.420 p.S140 0.507 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB8 HGNC ENSG00000177981 79 0 0 50 13 20.6349 ANP32D 0 genome.wustl.edu 37 12 48866816 48866816 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 48866816 48866816 C T SNP ANP32D ENST00000266594 human ensembl 74_37 +1 known silent c.369 p.C123 0.997 NULL NULL - no_errors ANP32D HGNC ENSG00000139223 84 0 0 92 5 5.15464 KCNA6 0 genome.wustl.edu 37 12 4919925 4919925 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 4919925 4919925 C T SNP KCNA6 ENST00000280684 human ensembl 74_37 +1 known missense c.718 p.P240S 0.000 prints_K_chnl_volt-dep_Kv1.6 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA6 HGNC ENSG00000151079 88 0 0 67 5 6.94444 KCNA6 0 genome.wustl.edu 37 12 4920535 4920535 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 4920535 4920535 C T SNP KCNA6 ENST00000280684 human ensembl 74_37 +1 known missense c.1328 p.A443V 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA6 HGNC ENSG00000151079 74 0 0 50 18 26.4706 DDX23 0 genome.wustl.edu 37 12 49227064 49227064 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 49227064 49227064 C T SNP DDX23 ENST00000308025 human ensembl 74_37 -1 known missense c.1799 p.R600H 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 108 0 0 78 5 6.0241 PRKAG1 0 genome.wustl.edu 37 12 49397360 49397360 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 49397360 49397360 T C SNP PRKAG1 ENST00000548065 human ensembl 74_37 -1 known missense c.722 p.Y241C 1.000 pfam_CBS_dom,smart_CBS_dom pfam_CBS_dom,smart_CBS_dom - no_errors PRKAG1 HGNC ENSG00000181929 69 0 0 52 10 16.129 TUBA1C 0 genome.wustl.edu 37 12 49666675 49666675 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 49666675 49666675 C T SNP TUBA1C ENST00000301072 human ensembl 74_37 +1 known missense c.1015 p.R339C 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin - no_errors TUBA1C HGNC ENSG00000167553 103 0 0 62 21 25.3012 TROAP 0 genome.wustl.edu 37 12 49719532 49719532 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 49719532 49719532 T C SNP TROAP ENST00000551192 human ensembl 74_37 +1 known missense c.400 p.C134R 0.031 NULL NULL - no_errors TROAP HGNC ENSG00000135451 36 0 0 22 11 33.3333 TROAP 0 genome.wustl.edu 37 12 49722962 49722962 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 49722962 49722962 C T SNP TROAP ENST00000257909 human ensembl 74_37 +1 known missense c.1039 p.R347W 0.092 NULL NULL - no_errors TROAP HGNC ENSG00000135451 254 0 0 197 13 6.19048 MCRS1 0 genome.wustl.edu 37 12 49952676 49952676 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 49952676 49952676 G A SNP MCRS1 ENST00000357123 human ensembl 74_37 -1 known missense c.1291 p.P431S 1.000 pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MCRS1 HGNC ENSG00000187778 64 0 0 35 19 35.1852 FAM186B 0 genome.wustl.edu 37 12 49994713 49994713 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 49994713 49994713 G A SNP FAM186B ENST00000257894 human ensembl 74_37 -1 known missense c.710 p.A237V 0.943 NULL NULL - no_errors FAM186B HGNC ENSG00000135436 66 0 0 43 18 29.5082 AQP6 0 genome.wustl.edu 37 12 50367132 50367132 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 50367132 50367132 C T SNP AQP6 ENST00000315520 human ensembl 74_37 +1 known missense c.176 p.A59V 1.000 pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_6,tigrfam_MIP - no_errors AQP6 HGNC ENSG00000086159 83 0 0 73 15 17.0455 LIMA1 0 genome.wustl.edu 37 12 50594644 50594644 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 50594644 50594644 G A SNP LIMA1 ENST00000394943 human ensembl 74_37 -1 known silent c.888 p.G296 0.981 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMA1 HGNC ENSG00000050405 183 0 0 159 12 7.01754 LARP4 0 genome.wustl.edu 37 12 50856385 50856385 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 50856385 50856385 G A SNP LARP4 ENST00000429001 human ensembl 74_37 +1 known missense c.1373 p.R458Q 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4 HGNC ENSG00000161813 87 0 0 53 24 31.1688 DIP2B 0 genome.wustl.edu 37 12 51128878 51128878 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 51128878 51128878 G A SNP DIP2B ENST00000301180 human ensembl 74_37 +1 known missense c.4066 p.A1356T 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 86 0 0 60 6 9.09091 DIP2B 0 genome.wustl.edu 37 12 51138606 51138606 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 51138606 51138606 T C SNP DIP2B ENST00000301180 human ensembl 74_37 +1 known missense c.4715 p.V1572A 1.000 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 87 0 0 65 4 5.7971 KCNA5 0 genome.wustl.edu 37 12 5154014 5154014 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 5154014 5154014 G A SNP KCNA5 ENST00000252321 human ensembl 74_37 +1 known missense c.701 p.R234H 0.969 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 86 0 0 58 6 9.375 DAZAP2 0 genome.wustl.edu 37 12 51636174 51636174 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 51636174 51636174 G A SNP DAZAP2 ENST00000549555 human ensembl 74_37 +1 known missense c.362 p.R121H 1.000 NULL pfam_DAZ_assoc-2 - no_errors DAZAP2 HGNC ENSG00000183283 287 0 0 218 73 25.0859 BIN2 0 genome.wustl.edu 37 12 51693445 51693445 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 51693445 51693445 G A SNP BIN2 ENST00000267012 human ensembl 74_37 -1 known silent c.462 p.H154 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin - no_errors BIN2 HGNC ENSG00000110934 161 0 0 102 40 28.169 GALNT6 0 genome.wustl.edu 37 12 51757930 51757930 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 51757930 51757930 G A SNP GALNT6 ENST00000356317 human ensembl 74_37 -1 known missense c.1024 p.R342C 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 GALNT6 HGNC ENSG00000139629 98 0 0 73 24 24.7423 SLC4A8 0 genome.wustl.edu 37 12 51856118 51856118 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 51856118 51856118 G A SNP SLC4A8 ENST00000453097 human ensembl 74_37 +1 known missense c.1126 p.A376T 1.000 pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A8 HGNC ENSG00000050438 157 0 0 148 8 5.12821 ACVR1B 0 genome.wustl.edu 37 12 52385715 52385715 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 52385715 52385715 C T SNP ACVR1B ENST00000257963 human ensembl 74_37 +1 known nonsense c.1330 p.R444* 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ACVR1B HGNC ENSG00000135503 170 0 0 130 32 19.7531 KRT86 0 genome.wustl.edu 37 12 52695732 52695732 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 52695732 52695732 C T SNP KRT86 ENST00000293525 human ensembl 74_37 +1 known missense c.32 p.A11V 0.976 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT86 HGNC ENSG00000170442 57 0 0 37 11 22.9167 KRT75 0 genome.wustl.edu 37 12 52822241 52822241 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 52822241 52822241 G A SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known missense c.1181 p.A394V 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 45 0 0 16 5 23.8095 KRT6C 0 genome.wustl.edu 37 12 52863220 52863220 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 52863220 52863220 G A SNP KRT6C ENST00000252250 human ensembl 74_37 -1 known silent c.1434 p.G478 0.006 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6C HGNC ENSG00000170465 53 0 0 33 11 25 KRT6C 0 genome.wustl.edu 37 12 52864995 52864995 + Missense_Mutation SNP A A T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 52864995 52864995 A T SNP KRT6C ENST00000252250 human ensembl 74_37 -1 known missense c.998 p.I333N 1.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6C HGNC ENSG00000170465 216 0 0 154 60 28.0374 KRT71 0 genome.wustl.edu 37 12 52940272 52940272 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 52940272 52940272 C T SNP KRT71 ENST00000267119 human ensembl 74_37 -1 known missense c.1123 p.A375T 0.883 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT71 HGNC ENSG00000139648 34 0 0 23 6 20.6897 KRT8 0 genome.wustl.edu 37 12 53292668 53292668 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 53292668 53292668 C T SNP KRT8 ENST00000293308 human ensembl 74_37 -1 known missense c.997 p.A333T 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT8 HGNC ENSG00000170421 47 0 0 31 9 22.5 TENC1 0 genome.wustl.edu 37 12 53446255 53446255 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 53446255 53446255 G A SNP TENC1 ENST00000314276 human ensembl 74_37 +1 known silent c.231 p.T77 0.368 smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd 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 187 0 0 137 41 23.0337 SP7 0 genome.wustl.edu 37 12 53723085 53723085 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 53723085 53723085 C T SNP SP7 ENST00000303846 human ensembl 74_37 -1 known silent c.141 p.P47 0.939 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP7 HGNC ENSG00000170374 153 0 0 124 37 22.9814 HOXC10 0 genome.wustl.edu 37 12 54379097 54379097 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 54379097 54379097 G A SNP HOXC10 ENST00000303460 human ensembl 74_37 +1 known silent c.54 p.A18 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXC10 HGNC ENSG00000180818 125 0 0 63 29 31.5217 HOXC10 0 genome.wustl.edu 37 12 54379557 54379557 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 54379557 54379557 G A SNP HOXC10 ENST00000303460 human ensembl 74_37 +1 known missense c.514 p.A172T 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXC10 HGNC ENSG00000180818 32 0 0 25 9 26.4706 HOXC9 0 genome.wustl.edu 37 12 54396240 54396240 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 54396240 54396240 G A SNP HOXC9 ENST00000303450 human ensembl 74_37 +1 known missense c.565 p.A189T 1.000 superfamily_Homeodomain-like,pirsf_Homeobox_Hox9 pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXC9 HGNC ENSG00000180806 106 0 0 62 22 26.1905 HOXC6 0 genome.wustl.edu 37 12 54423569 54423569 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 54423569 54423569 G A SNP HOXC6 ENST00000243108 human ensembl 74_37 +1 known silent c.531 p.A177 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXC6 HGNC ENSG00000197757 101 0 0 66 21 24.1379 HOXC5 0 genome.wustl.edu 37 12 54428168 54428168 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 54428168 54428168 G T SNP HOXC5 ENST00000312492 human ensembl 74_37 +1 known missense c.561 p.E187D 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXC5 HGNC ENSG00000172789 128 0 0 92 31 25.2033 NEUROD4 0 genome.wustl.edu 37 12 55420335 55420335 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 55420335 55420335 C T SNP NEUROD4 ENST00000242994 human ensembl 74_37 +1 known missense c.112 p.P38S 0.000 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 NEUROD4 HGNC ENSG00000123307 65 0 0 50 6 10.7143 NEUROD4 0 genome.wustl.edu 37 12 55420539 55420539 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 55420539 55420539 G A SNP NEUROD4 ENST00000242994 human ensembl 74_37 +1 known missense c.316 p.A106T 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD4 HGNC ENSG00000123307 108 0 0 82 9 9.89011 OR6C3 0 genome.wustl.edu 37 12 55726283 55726283 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 55726283 55726283 T C SNP OR6C3 ENST00000379667 human ensembl 74_37 +1 known silent c.799 p.L267 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C3 HGNC ENSG00000205329 70 0 0 44 13 22.807 OR6C65 0 genome.wustl.edu 37 12 55794672 55794672 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 55794672 55794672 C T SNP OR6C65 ENST00000379665 human ensembl 74_37 +1 known silent c.360 p.R120 0.860 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 OR6C65 HGNC ENSG00000205328 127 0 0 96 33 25.5814 OR6C65 0 genome.wustl.edu 37 12 55794777 55794777 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 55794777 55794777 T C SNP OR6C65 ENST00000379665 human ensembl 74_37 +1 known silent c.465 p.F155 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 OR6C65 HGNC ENSG00000205328 171 0 0 110 37 25.1701 DGKA 0 genome.wustl.edu 37 12 56346910 56346910 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 56346910 56346910 C T SNP DGKA ENST00000331886 human ensembl 74_37 +1 known missense c.2029 p.R677C 0.996 pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKA HGNC ENSG00000065357 89 0 0 64 19 22.8916 ERBB3 0 genome.wustl.edu 37 12 56478854 56478854 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 56478854 56478854 G A SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.310 p.V104M 0.994 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 137 0 0 124 10 7.46269 COQ10A 0 genome.wustl.edu 37 12 56661571 56661571 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 56661571 56661571 G A SNP COQ10A ENST00000546544 human ensembl 74_37 +1 known missense c.77 p.G26D 0.001 NULL pfam_Polyket_cyc - no_errors COQ10A HGNC ENSG00000135469 136 0 0 81 43 34.6774 PAN2 0 genome.wustl.edu 37 12 56716264 56716264 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 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 102 0 0 67 19 22.093 TIMELESS 0 genome.wustl.edu 37 12 56811784 56811784 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 56811784 56811784 C T SNP TIMELESS ENST00000553532 human ensembl 74_37 -1 known missense c.3463 p.A1155T 0.000 pfam_TIMELESS_C pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 120 0 0 102 31 23.3083 BAZ2A 0 genome.wustl.edu 37 12 56992460 56992460 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 56992460 56992460 C T SNP BAZ2A ENST00000551812 human ensembl 74_37 -1 known missense c.5660 p.R1887H 1.000 superfamily_Bromodomain,smart_Bromodomain pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC ENSG00000076108 33 0 0 40 8 16.6667 ZBTB39 0 genome.wustl.edu 37 12 57397343 57397343 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 57397343 57397343 G A SNP ZBTB39 ENST00000300101 human ensembl 74_37 -1 known silent c.1359 p.C453 0.986 smart_Znf_C2H2-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 ZBTB39 HGNC ENSG00000166860 57 0 0 35 13 27.0833 LRP1 0 genome.wustl.edu 37 12 57548147 57548147 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 57548147 57548147 C T SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.998 p.A333V 0.998 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 49 0 0 34 4 10.5263 LRP1 0 genome.wustl.edu 37 12 57595585 57595585 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 57595585 57595585 C T SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known silent c.10491 p.D3497 0.922 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 80 0 0 58 15 20.5479 LRP1 0 genome.wustl.edu 37 12 57605717 57605717 + Silent SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 57605717 57605717 C A SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known silent c.13266 p.A4422 1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 63 0 0 40 10 20 NXPH4 0 genome.wustl.edu 37 12 57619402 57619402 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 57619402 57619402 G A SNP NXPH4 ENST00000349394 human ensembl 74_37 +1 known missense c.799 p.A267T 0.997 pfam_NXPH/NXPE,pirsf_Neurexophilin pfam_NXPH/NXPE,pirsf_Neurexophilin - no_errors NXPH4 HGNC ENSG00000182379 33 0 0 17 10 37.037 ARHGEF25 0 genome.wustl.edu 37 12 58009072 58009072 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 58009072 58009072 C T SNP ARHGEF25 ENST00000333972 human ensembl 74_37 +1 known missense c.1130 p.T377M 0.980 superfamily_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF25 HGNC ENSG00000240771 47 0 0 27 10 27.027 OS9 0 genome.wustl.edu 37 12 58090083 58090083 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 58090083 58090083 G A SNP OS9 ENST00000315970 human ensembl 74_37 +1 known missense c.506 p.R169H 1.000 pfam_PRKCSH pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors OS9 HGNC ENSG00000135506 75 0 0 39 20 33.8983 AVIL 0 genome.wustl.edu 37 12 58197057 58197057 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 58197057 58197057 G A SNP AVIL ENST00000257861 human ensembl 74_37 -1 known silent c.1935 p.D645 0.998 pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_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 AVIL HGNC ENSG00000135407 175 0 0 124 39 23.9264 SLC16A7 0 genome.wustl.edu 37 12 60168512 60168512 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 60168512 60168512 G A SNP SLC16A7 ENST00000261187 human ensembl 74_37 +1 known missense c.436 p.A146T 1.000 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 SLC16A7 HGNC ENSG00000118596 70 0 0 64 7 9.85915 VWF 0 genome.wustl.edu 37 12 6127784 6127784 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 6127784 6127784 C T SNP VWF ENST00000261405 human ensembl 74_37 -1 known silent c.4800 p.A1600 0.007 pirsf_VWF,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 52 0 0 31 10 24.3902 PPM1H 0 genome.wustl.edu 37 12 63182064 63182064 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 63182064 63182064 C T SNP PPM1H ENST00000228705 human ensembl 74_37 -1 known missense c.811 p.A271T 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1H HGNC ENSG00000111110 20 0 0 21 4 16 AVPR1A 0 genome.wustl.edu 37 12 63543935 63543935 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 63543935 63543935 G A SNP AVPR1A ENST00000299178 human ensembl 74_37 -1 known missense c.682 p.P228S 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR1A HGNC ENSG00000166148 58 0 0 44 16 26.6667 AVPR1A 0 genome.wustl.edu 37 12 63544099 63544099 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 63544099 63544099 G A SNP AVPR1A ENST00000299178 human ensembl 74_37 -1 known missense c.518 p.A173V 0.990 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR1A HGNC ENSG00000166148 39 0 0 20 11 35.4839 SRGAP1 0 genome.wustl.edu 37 12 64377886 64377886 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 64377886 64377886 C T SNP SRGAP1 ENST00000355086 human ensembl 74_37 +1 known missense c.227 p.A76V 1.000 pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 156 0 0 123 40 24.5399 SRGAP1 0 genome.wustl.edu 37 12 64505708 64505708 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 64505708 64505708 G T SNP SRGAP1 ENST00000355086 human ensembl 74_37 +1 known missense c.2086 p.D696Y 1.000 NULL pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 86 0 0 68 20 22.7273 XPOT 0 genome.wustl.edu 37 12 64812728 64812728 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 64812728 64812728 A G SNP XPOT ENST00000332707 human ensembl 74_37 +1 known missense c.343 p.T115A 1.000 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 84 0 0 106 6 5.35714 XPOT 0 genome.wustl.edu 37 12 64812733 64812733 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 64812733 64812733 G A SNP XPOT ENST00000332707 human ensembl 74_37 +1 known silent c.348 p.E116 0.939 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 85 0 0 104 8 7.14286 B4GALNT3 0 genome.wustl.edu 37 12 654106 654106 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 654106 654106 G A SNP B4GALNT3 ENST00000266383 human ensembl 74_37 +1 known missense c.506 p.R169H 1.000 pfam_PA14,smart_PA14 pfam_PA14,pfam_Chond_GalNAc,smart_PA14 - no_errors B4GALNT3 HGNC ENSG00000139044 51 0 0 42 28 40 B4GALNT3 0 genome.wustl.edu 37 12 657408 657408 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 657408 657408 C T SNP B4GALNT3 ENST00000266383 human ensembl 74_37 +1 known silent c.798 p.N266 0.949 pfam_PA14,smart_PA14 pfam_PA14,pfam_Chond_GalNAc,smart_PA14 - no_errors B4GALNT3 HGNC ENSG00000139044 74 0 0 57 18 24 HMGA2 0 genome.wustl.edu 37 12 66308662 66308662 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 66308662 66308662 C T SNP HMGA2 ENST00000536545 human ensembl 74_37 +1 putative missense c.412 p.P138S 0.022 NULL pfam_AT_hook_DNA-bd_motif,smart_AT_hook_DNA-bd_motif,prints_HMGI/HMGY,prints_AT_hook-like - no_errors HMGA2 HGNC ENSG00000149948 28 0 0 15 4 21.0526 HELB 0 genome.wustl.edu 37 12 66703905 66703905 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 66703905 66703905 T C SNP HELB ENST00000247815 human ensembl 74_37 +1 known silent c.1197 p.D399 0.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors HELB HGNC ENSG00000127311 227 0 0 157 52 24.8804 CHD4 0 genome.wustl.edu 37 12 6711240 6711240 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 6711240 6711240 G A SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known silent c.324 p.S108 1.000 NULL 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 68 0 0 31 15 32.6087 NINJ2 0 genome.wustl.edu 37 12 675296 675296 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 675296 675296 C T SNP NINJ2 ENST00000305108 human ensembl 74_37 -1 known missense c.220 p.A74T 1.000 pfam_Ninjurin pfam_Ninjurin - no_errors NINJ2 HGNC ENSG00000171840 31 0 0 17 8 32 CAND1 0 genome.wustl.edu 37 12 67699777 67699777 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 67699777 67699777 C T SNP CAND1 ENST00000545606 human ensembl 74_37 +1 known missense c.2329 p.R777C 1.000 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND1 HGNC ENSG00000111530 132 1 0.75188 90 19 17.4312 IFNG 0 genome.wustl.edu 37 12 68551823 68551823 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 68551823 68551823 A G SNP IFNG ENST00000229135 human ensembl 74_37 -1 known missense c.236 p.L79P 0.997 pfam_Interferon_gamma,superfamily_4_helix_cytokine-like_core,pirsf_Interferon_gamma pfam_Interferon_gamma,superfamily_4_helix_cytokine-like_core,pirsf_Interferon_gamma - no_errors IFNG HGNC ENSG00000111537 66 0 0 42 13 23.6364 RAP1B 0 genome.wustl.edu 37 12 69042508 69042508 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 69042508 69042508 C T SNP RAP1B ENST00000250559 human ensembl 74_37 +1 known missense c.4 p.R2C 1.000 pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,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 RAP1B HGNC ENSG00000127314 43 0 0 30 8 21.0526 CPSF6 0 genome.wustl.edu 37 12 69651601 69651601 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 69651601 69651601 C T SNP CPSF6 ENST00000266679 human ensembl 74_37 +1 known missense c.610 p.R204W 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPSF6 HGNC ENSG00000111605 131 0 0 97 7 6.73077 BEST3 0 genome.wustl.edu 37 12 70087555 70087555 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 70087555 70087555 G A SNP BEST3 ENST00000330891 human ensembl 74_37 -1 known missense c.380 p.T127M 1.000 pfam_Bestrophin/UPF0187 pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC ENSG00000127325 62 0 0 31 15 32.6087 ENO2 0 genome.wustl.edu 37 12 7025874 7025874 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 7025874 7025874 C T SNP ENO2 ENST00000229277 human ensembl 74_37 +1 known missense c.221 p.A74V 0.994 pfam_Enolase_N,pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO2 HGNC ENSG00000111674 85 0 0 66 9 12 CNOT2 0 genome.wustl.edu 37 12 70735907 70735907 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 70735907 70735907 C T SNP CNOT2 ENST00000229195 human ensembl 74_37 +1 known missense c.1199 p.A400V 1.000 pfam_NOT pfam_NOT - no_errors CNOT2 HGNC ENSG00000111596 173 0 0 133 12 8.27586 PTPRB 0 genome.wustl.edu 37 12 70964877 70964877 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 70964877 70964877 C T SNP PTPRB ENST00000334414 human ensembl 74_37 -1 known missense c.3299 p.R1100H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 73 0 0 50 19 27.5362 TSPAN8 0 genome.wustl.edu 37 12 71531970 71531970 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 71531970 71531970 G A SNP TSPAN8 ENST00000247829 human ensembl 74_37 -1 known missense c.302 p.A101V 0.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN8 HGNC ENSG00000127324 195 0 0 165 11 6.25 TPH2 0 genome.wustl.edu 37 12 72416230 72416230 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 72416230 72416230 C T SNP TPH2 ENST00000333850 human ensembl 74_37 +1 known missense c.1120 p.R374W 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH2 HGNC ENSG00000139287 83 0 0 57 4 6.55738 RBP5 0 genome.wustl.edu 37 12 7280857 7280857 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 7280857 7280857 G A SNP RBP5 ENST00000266560 human ensembl 74_37 -1 known silent c.231 p.S77 0.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors RBP5 HGNC ENSG00000139194 52 0 0 37 15 28.8462 TRHDE 0 genome.wustl.edu 37 12 72863686 72863686 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 72863686 72863686 T C SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known silent c.1329 p.C443 1.000 pfam_Peptidase_M1_N,prints_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 74 0 0 49 15 23.4375 CLSTN3 0 genome.wustl.edu 37 12 7288865 7288865 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 7288865 7288865 G A SNP CLSTN3 ENST00000266546 human ensembl 74_37 +1 known missense c.806 p.R269H 1.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN3 HGNC ENSG00000139182 85 0 0 62 7 10.1449 CD163L1 0 genome.wustl.edu 37 12 7528533 7528533 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 7528533 7528533 G A SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known missense c.2449 p.R817C 0.060 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD163L1 HGNC ENSG00000177675 118 0 0 80 29 26.6055 CAPS2 0 genome.wustl.edu 37 12 75676076 75676076 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 75676076 75676076 T C SNP CAPS2 ENST00000409445 human ensembl 74_37 -1 known missense c.1624 p.I542V 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CAPS2 HGNC ENSG00000180881 91 0 0 75 24 24.2424 BBS10 0 genome.wustl.edu 37 12 76740999 76740999 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 76740999 76740999 G A SNP BBS10 ENST00000393262 human ensembl 74_37 -1 known nonsense c.766 p.R256* 0.365 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom - no_errors BBS10 HGNC ENSG00000179941 48 0 0 24 5 17.2414 ZDHHC17 0 genome.wustl.edu 37 12 77244672 77244672 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 77244672 77244672 C T SNP ZDHHC17 ENST00000334822 human ensembl 74_37 +1 known silent c.1806 p.C602 1.000 NULL pfam_Ankyrin_rpt,pfam_Znf_DHHC_palmitoyltrfase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_DHHC_palmitoyltrfase,prints_Ankyrin_rpt - no_errors ZDHHC17 HGNC ENSG00000186908 116 0 0 110 21 16.0305 NAV3 0 genome.wustl.edu 37 12 78444840 78444840 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 78444840 78444840 A G SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.2429 p.D810G 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 65 0 0 36 16 30.7692 PPP1R12A 0 genome.wustl.edu 37 12 80211266 80211266 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 80211266 80211266 C T SNP PPP1R12A ENST00000261207 human ensembl 74_37 -1 known missense c.1147 p.A383T 0.992 pirsf_Pase-1_reg_su_12A/B/C_euk pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12A HGNC ENSG00000058272 30 0 0 30 4 11.7647 METTL25 0 genome.wustl.edu 37 12 82870436 82870436 + Missense_Mutation SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 82870436 82870436 T A SNP METTL25 ENST00000248306 human ensembl 74_37 +1 known missense c.1586 p.I529N 0.000 NULL NULL - no_errors METTL25 HGNC ENSG00000127720 54 0 0 35 20 36.3636 AICDA 0 genome.wustl.edu 37 12 8759609 8759609 + Splice_Site SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 8759609 8759609 C T SNP AICDA ENST00000229335 human ensembl 74_37 -1 known splice_site c.9-1 e2-1 1.000 - - - no_errors AICDA HGNC ENSG00000111732 25 0 0 19 5 20.8333 MKRN9P 0 genome.wustl.edu 37 12 88176943 88176943 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 88176943 88176943 G A SNP MKRN9P ENST00000599191 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MKRN9P HGNC ENSG00000258128 30 0 0 14 4 22.2222 TMTC3 0 genome.wustl.edu 37 12 88547228 88547228 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 88547228 88547228 A G SNP TMTC3 ENST00000266712 human ensembl 74_37 +1 known missense c.350 p.N117S 0.038 NULL pfam_TPR_2,pfam_TPR_1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC3 HGNC ENSG00000139324 72 0 0 50 11 18.0328 RIMKLB 0 genome.wustl.edu 37 12 8866509 8866509 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 8866509 8866509 G A SNP RIMKLB ENST00000357529 human ensembl 74_37 +1 known missense c.47 p.R16H 1.000 tigrfam_RpS6_RimK/Lys_biosynth_LsyX pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX - no_errors RIMKLB HGNC ENSG00000166532 81 0 0 57 7 10.9375 KITLG 0 genome.wustl.edu 37 12 88910187 88910187 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 88910187 88910187 A G SNP KITLG ENST00000228280 human ensembl 74_37 -1 known silent c.444 p.I148 0.961 pfam_SCF,superfamily_4_helix_cytokine-like_core,pirsf_SCF pfam_SCF,superfamily_4_helix_cytokine-like_core,pirsf_SCF - no_errors KITLG HGNC ENSG00000049130 147 0 0 125 7 5.30303 ATP2B1 0 genome.wustl.edu 37 12 89992941 89992941 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 89992941 89992941 G A SNP ATP2B1 ENST00000261173 human ensembl 74_37 -1 known missense c.3304 p.R1102C 1.000 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B1 HGNC ENSG00000070961 95 0 0 69 29 29.5918 A2ML1 0 genome.wustl.edu 37 12 9000230 9000230 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 9000230 9000230 C T SNP A2ML1 ENST00000299698 human ensembl 74_37 +1 known missense c.1769 p.A590V 0.888 pfam_A2M_N_2 pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors A2ML1 HGNC ENSG00000166535 112 0 0 61 24 28.2353 ATP2B1 0 genome.wustl.edu 37 12 90049651 90049651 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 90049651 90049651 C T SNP ATP2B1 ENST00000261173 human ensembl 74_37 -1 known missense c.13 p.A5T 1.000 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B1 HGNC ENSG00000070961 110 0 0 66 18 21.4286 LUM 0 genome.wustl.edu 37 12 91498015 91498015 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 91498015 91498015 C T SNP LUM ENST00000266718 human ensembl 74_37 -1 known missense c.944 p.R315H 0.025 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LUM HGNC ENSG00000139329 78 0 0 55 14 20.2899 A2M 0 genome.wustl.edu 37 12 9229462 9229462 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 9229462 9229462 C T SNP A2M ENST00000318602 human ensembl 74_37 -1 known missense c.3422 p.G1141D 0.005 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 137 0 0 89 18 16.8224 A2M 0 genome.wustl.edu 37 12 9268379 9268379 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 9268379 9268379 C T SNP A2M ENST00000318602 human ensembl 74_37 -1 known missense c.67 p.A23T 0.594 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 87 0 0 39 16 29.0909 CLLU1OS 0 genome.wustl.edu 37 12 92814871 92814871 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 92814871 92814871 G A SNP CLLU1OS ENST00000378487 human ensembl 74_37 -1 known missense c.221 p.A74V 0.000 NULL NULL - no_errors CLLU1OS HGNC ENSG00000205057 200 1 0.497512 169 44 20.6573 C12orf74 0 genome.wustl.edu 37 12 93100872 93100872 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 93100872 93100872 C T SNP C12orf74 ENST00000397833 human ensembl 74_37 +1 known silent c.465 p.G155 0.000 NULL NULL - no_errors C12orf74 HGNC ENSG00000214215 34 0 0 24 12 33.3333 EEA1 0 genome.wustl.edu 37 12 93236266 93236266 + Missense_Mutation SNP A A C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 93236266 93236266 A C SNP EEA1 ENST00000322349 human ensembl 74_37 -1 known missense c.890 p.V297G 0.997 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors EEA1 HGNC ENSG00000102189 34 0 0 27 3 10 TMCC3 0 genome.wustl.edu 37 12 94972205 94972205 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 94972205 94972205 C T SNP TMCC3 ENST00000261226 human ensembl 74_37 -1 known missense c.1096 p.A366T 1.000 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC3 HGNC ENSG00000057704 69 0 0 55 10 15.3846 LTA4H 0 genome.wustl.edu 37 12 96409440 96409440 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 96409440 96409440 C T SNP LTA4H ENST00000228740 human ensembl 74_37 -1 known missense c.980 p.R327H 1.000 pfam_Peptidase_M1_N,tigrfam_Leukotriene_A4_hydrolase pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N,tigrfam_Leukotriene_A4_hydrolase - no_errors LTA4H HGNC ENSG00000111144 103 0 0 86 5 5.49451 WNK1 0 genome.wustl.edu 37 12 966394 966394 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 966394 966394 T C SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known missense c.1379 p.I460T 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_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK1 HGNC ENSG00000060237 81 0 0 54 21 28 ELK3 0 genome.wustl.edu 37 12 96640801 96640801 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 96640801 96640801 G A SNP ELK3 ENST00000228741 human ensembl 74_37 +1 known silent c.291 p.A97 0.158 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELK3 HGNC ENSG00000111145 54 0 0 27 8 22.8571 C12orf55 0 genome.wustl.edu 37 12 97051724 97051724 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 97051724 97051724 G A SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative missense c.5165 p.G1722D 1.000 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 160 0 0 174 11 5.94595 ANKS1B 0 genome.wustl.edu 37 12 99166772 99166772 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 99166772 99166772 G A SNP ANKS1B ENST00000549315 human ensembl 74_37 -1 putative rna NULL NULL 0.001 - - - no_errors ANKS1B HGNC ENSG00000185046 40 0 0 26 17 39.5349 TM9SF2 0 genome.wustl.edu 37 13 100172322 100172322 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 100172322 100172322 G A SNP TM9SF2 ENST00000376387 human ensembl 74_37 +1 known missense c.272 p.R91H 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF2 HGNC ENSG00000125304 70 0 0 52 12 18.75 TM9SF2 0 genome.wustl.edu 37 13 100204534 100204534 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 100204534 100204534 C T SNP TM9SF2 ENST00000376387 human ensembl 74_37 +1 known missense c.1442 p.S481F 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF2 HGNC ENSG00000125304 158 0 0 96 46 32.3944 PCCA 0 genome.wustl.edu 37 13 100909900 100909900 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 100909900 100909900 G A SNP PCCA ENST00000376285 human ensembl 74_37 +1 known missense c.689 p.R230H 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,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_Biotin_lipoyl - no_errors PCCA HGNC ENSG00000175198 41 0 0 19 6 24 NALCN 0 genome.wustl.edu 37 13 101720344 101720344 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 101720344 101720344 C T SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.4372 p.E1458K 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 79 0 0 32 18 36 NALCN 0 genome.wustl.edu 37 13 102029307 102029307 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 102029307 102029307 C T SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.476 p.R159Q 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 70 0 0 46 17 26.9841 ITGBL1 0 genome.wustl.edu 37 13 102359114 102359114 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 102359114 102359114 A G SNP ITGBL1 ENST00000376180 human ensembl 74_37 +1 known missense c.1141 p.T381A 0.016 pfam_EGF_extracell,smart_EG-like_dom pfam_EGF_extracell,smart_EG-like_dom - no_errors ITGBL1 HGNC ENSG00000198542 60 0 0 38 9 19.1489 FGF14 0 genome.wustl.edu 37 13 102568812 102568812 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 102568812 102568812 G A SNP FGF14 ENST00000376143 human ensembl 74_37 -1 known missense c.184 p.R62W 1.000 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF14 HGNC ENSG00000102466 46 0 0 29 8 21.6216 TPP2 0 genome.wustl.edu 37 13 103286332 103286332 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 103286332 103286332 C T SNP TPP2 ENST00000376065 human ensembl 74_37 +1 known missense c.1277 p.A426V 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors TPP2 HGNC ENSG00000134900 56 0 0 41 16 28.0702 KDELC1 0 genome.wustl.edu 37 13 103445716 103445716 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 103445716 103445716 G A SNP KDELC1 ENST00000376004 human ensembl 74_37 -1 known missense c.647 p.A216V 1.000 pfam_LipoPS_modifying pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like - no_errors KDELC1 HGNC ENSG00000134901 100 0 0 62 16 20.5128 MYO16 0 genome.wustl.edu 37 13 109792683 109792683 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 109792683 109792683 C T SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.4057 p.R1353C 0.928 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 33 0 0 19 4 17.3913 COL4A1 0 genome.wustl.edu 37 13 110827668 110827668 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 110827668 110827668 C T SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known missense c.3095 p.G1032D 0.997 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 49 0 0 29 11 27.5 COL4A1 0 genome.wustl.edu 37 13 110839556 110839556 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 110839556 110839556 C T SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known missense c.1657 p.G553S 0.997 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 59 0 0 35 16 31.3725 COL4A1 0 genome.wustl.edu 37 13 110859767 110859767 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 110859767 110859767 C T SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known missense c.763 p.A255T 0.001 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 93 0 0 61 8 11.5942 COL4A2 0 genome.wustl.edu 37 13 111130478 111130478 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 111130478 111130478 C T SNP COL4A2 ENST00000360467 human ensembl 74_37 +1 known missense c.2554 p.P852S 0.945 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC ENSG00000134871 17 0 0 17 5 22.7273 PROZ 0 genome.wustl.edu 37 13 113826043 113826043 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 113826043 113826043 C T SNP PROZ ENST00000375547 human ensembl 74_37 +1 known missense c.827 p.A276V 0.000 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Peptidase_S1,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1 - no_errors PROZ HGNC ENSG00000126231 48 0 0 35 9 20.4545 LAMP1 0 genome.wustl.edu 37 13 113975905 113975905 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 113975905 113975905 G A SNP LAMP1 ENST00000332556 human ensembl 74_37 +1 known missense c.977 p.R326Q 0.858 pfam_Lysosome-assoc_membr_glycop pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop - no_errors LAMP1 HGNC ENSG00000185896 53 0 0 41 11 21.1538 GAS6 0 genome.wustl.edu 37 13 114526405 114526405 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 114526405 114526405 G A SNP GAS6 ENST00000357389 human ensembl 74_37 -1 known silent c.1725 p.A575 0.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors GAS6 HGNC ENSG00000183087 59 0 0 29 14 32.5581 TPTE2 0 genome.wustl.edu 37 13 20056655 20056655 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 20056655 20056655 T C SNP TPTE2 ENST00000382977 human ensembl 74_37 -1 known missense c.152 p.E51G 0.001 NULL pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 54 0 0 45 4 8.16327 TPTE2 0 genome.wustl.edu 37 13 20056687 20056687 + Missense_Mutation SNP A A T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 20056687 20056687 A T SNP TPTE2 ENST00000382977 human ensembl 74_37 -1 known missense c.120 p.S40R 0.000 NULL pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 46 0 0 44 8 15.3846 PSPC1 0 genome.wustl.edu 37 13 20279899 20279899 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 20279899 20279899 G A SNP PSPC1 ENST00000338910 human ensembl 74_37 -1 known missense c.1289 p.A430V 1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors PSPC1 HGNC ENSG00000121390 88 0 0 58 10 14.7059 IFT88 0 genome.wustl.edu 37 13 21189979 21189979 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 21189979 21189979 C T SNP IFT88 ENST00000319980 human ensembl 74_37 +1 known missense c.1187 p.A396V 1.000 NULL 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 70 0 0 81 5 5.81395 LATS2 0 genome.wustl.edu 37 13 21555688 21555688 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 21555688 21555688 G A SNP LATS2 ENST00000382592 human ensembl 74_37 -1 known missense c.2582 p.A861V 1.000 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_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS2 HGNC ENSG00000150457 56 0 0 38 7 15.5556 FGF9 0 genome.wustl.edu 37 13 22246290 22246290 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 22246290 22246290 G A SNP FGF9 ENST00000382353 human ensembl 74_37 +1 known missense c.239 p.G80D 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF9 HGNC ENSG00000102678 93 0 0 43 20 31.746 SACS 0 genome.wustl.edu 37 13 23906034 23906034 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 23906034 23906034 G A SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.11981 p.A3994V 0.999 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 121 0 0 99 9 8.33333 SACS 0 genome.wustl.edu 37 13 23908271 23908271 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 23908271 23908271 C T SNP SACS ENST00000382292 human ensembl 74_37 -1 known nonsense c.9744 p.W3248* 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 104 0 0 67 11 14.1026 SACS 0 genome.wustl.edu 37 13 23909914 23909914 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 23909914 23909914 G A SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.8101 p.P2701S 1.000 superfamily_HATPase_ATP-bd 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 85 0 0 64 20 23.8095 SACS 0 genome.wustl.edu 37 13 23942607 23942607 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 23942607 23942607 C T SNP SACS ENST00000382292 human ensembl 74_37 -1 known silent c.279 p.T93 0.773 superfamily_HATPase_ATP-bd 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 43 0 0 22 12 35.2941 TNFRSF19 0 genome.wustl.edu 37 13 24190110 24190110 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 24190110 24190110 C T SNP TNFRSF19 ENST00000382258 human ensembl 74_37 +1 known silent c.285 p.C95 0.288 smart_TNFR/NGFR_Cys_rich_reg smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_19 - no_errors TNFRSF19 HGNC ENSG00000127863 79 0 0 49 17 25.7576 SPATA13 0 genome.wustl.edu 37 13 24860366 24860366 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 24860366 24860366 C T SNP SPATA13 ENST00000382108 human ensembl 74_37 +1 known silent c.2316 p.G772 0.997 superfamily_SH3_domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors SPATA13 HGNC ENSG00000182957 125 0 0 119 16 11.8519 SPATA13 0 genome.wustl.edu 37 13 24871865 24871865 + Missense_Mutation SNP A A C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 24871865 24871865 A C SNP SPATA13 ENST00000382108 human ensembl 74_37 +1 known missense c.3575 p.K1192T 0.910 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors SPATA13 HGNC ENSG00000182957 37 0 0 30 3 9.09091 PARP4 0 genome.wustl.edu 37 13 25008533 25008533 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 25008533 25008533 C A SNP PARP4 ENST00000381989 human ensembl 74_37 -1 known missense c.4746 p.E1582D 0.996 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 70 0 0 69 8 10.3896 ENSG00000243008 0 genome.wustl.edu 37 13 25144829 25144829 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 25144829 25144829 G A SNP ENSG00000243008 ENST00000453498 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors RP11-556N21.1 Clone_based_vega_gene ENSG00000243008 38 0 0 19 9 32.1429 CENPJ 0 genome.wustl.edu 37 13 25480954 25480954 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 25480954 25480954 C T SNP CENPJ ENST00000381884 human ensembl 74_37 -1 known missense c.1222 p.E408K 0.997 NULL pfam_Tcp10_C_dom - no_errors CENPJ HGNC ENSG00000151849 58 0 0 45 15 25 PABPC3 0 genome.wustl.edu 37 13 25671495 25671495 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 25671495 25671495 G A SNP PABPC3 ENST00000281589 human ensembl 74_37 +1 known missense c.1159 p.A387T 1.000 tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC ENSG00000151846 104 0 0 99 22 18.1818 ATP8A2 0 genome.wustl.edu 37 13 26144987 26144987 + Missense_Mutation SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 26144987 26144987 T A SNP ATP8A2 ENST00000381655 human ensembl 74_37 +1 known missense c.1556 p.I519N 1.000 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A2 HGNC ENSG00000132932 66 0 0 40 4 9.09091 RNF6 0 genome.wustl.edu 37 13 26792703 26792703 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 26792703 26792703 G A SNP RNF6 ENST00000346166 human ensembl 74_37 -1 known silent c.234 p.G78 0.991 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF6 HGNC ENSG00000127870 172 0 0 137 9 6.16438 GPR12 0 genome.wustl.edu 37 13 27333601 27333601 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 27333601 27333601 C T SNP GPR12 ENST00000381436 human ensembl 74_37 -1 known missense c.364 p.A122T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_3/6/12_orphan,prints_GPR12,prints_GPCR_Rhodpsn - no_errors GPR12 HGNC ENSG00000132975 96 0 0 88 6 6.38298 FLT3 0 genome.wustl.edu 37 13 28592704 28592704 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 28592704 28592704 G A SNP FLT3 ENST00000380982 human ensembl 74_37 -1 known missense c.2441 p.A814V 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_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FLT3 HGNC ENSG00000122025 79 0 0 51 4 7.27273 FLT1 0 genome.wustl.edu 37 13 29002038 29002038 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 29002038 29002038 G A SNP FLT1 ENST00000282397 human ensembl 74_37 -1 known missense c.1127 p.A376V 0.519 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_VEGFR1_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt - no_errors FLT1 HGNC ENSG00000102755 103 0 0 78 5 6.0241 HMGB1 0 genome.wustl.edu 37 13 31037572 31037572 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 31037572 31037572 C T SNP HMGB1 ENST00000468384 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors HMGB1 HGNC ENSG00000189403 41 0 0 36 7 16.2791 RXFP2 0 genome.wustl.edu 37 13 32355867 32355867 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 32355867 32355867 C T SNP RXFP2 ENST00000298386 human ensembl 74_37 +1 known missense c.845 p.S282L 0.022 smart_Leu-rich_rpt_typical-subtyp pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam - no_errors RXFP2 HGNC ENSG00000133105 40 0 0 41 12 22.6415 FRY 0 genome.wustl.edu 37 13 32747622 32747622 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 32747622 32747622 G A SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.2270 p.R757H 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 103 0 0 74 32 30.1887 FRY 0 genome.wustl.edu 37 13 32821627 32821627 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 32821627 32821627 C T SNP FRY ENST00000380250 human ensembl 74_37 +1 known silent c.6996 p.F2332 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 74 0 0 76 8 9.52381 BRCA2 0 genome.wustl.edu 37 13 32912807 32912807 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 32912807 32912807 G A SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.4315 p.A1439T 0.868 pfam_BRCA2_repeat,pirsf_BRCA2,pfscan_BRCA2_repeat pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 133 0 0 76 24 24 BRCA2 0 genome.wustl.edu 37 13 32944628 32944628 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 32944628 32944628 G A SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known silent c.8421 p.S2807 1.000 superfamily_NA-bd_OB-fold,pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 88 0 0 47 22 31.8841 BRCA2 0 genome.wustl.edu 37 13 32953551 32953551 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 32953551 32953551 C T SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.8852 p.A2951V 1.000 superfamily_NA-bd_OB-fold,pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 114 0 0 72 32 30.7692 N4BP2L2 0 genome.wustl.edu 37 13 33091905 33091905 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 33091905 33091905 G A SNP N4BP2L2 ENST00000511143 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors N4BP2L2 HGNC ENSG00000244754 28 0 0 27 5 15.625 PDS5B 0 genome.wustl.edu 37 13 33344393 33344393 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 33344393 33344393 C T SNP PDS5B ENST00000315596 human ensembl 74_37 +1 known silent c.3759 p.G1253 0.885 NULL superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 131 0 0 95 29 23.3871 KL 0 genome.wustl.edu 37 13 33635904 33635904 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 33635904 33635904 C T SNP KL ENST00000380099 human ensembl 74_37 +1 known silent c.2688 p.N896 0.970 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KL HGNC ENSG00000133116 83 0 0 70 21 23.0769 STARD13 0 genome.wustl.edu 37 13 33686932 33686932 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 33686932 33686932 C T SNP STARD13 ENST00000336934 human ensembl 74_37 -1 known silent c.2418 p.T806 0.046 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD13 HGNC ENSG00000133121 127 0 0 68 20 22.7273 CCDC169-SOHLH2 0 genome.wustl.edu 37 13 36767810 36767810 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 36767810 36767810 C T SNP CCDC169-SOHLH2 ENST00000511166 human ensembl 74_37 -1 known missense c.609 p.M203I 0.999 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors CCDC169-SOHLH2 HGNC ENSG00000250709 122 0 0 59 22 27.1605 SPG20 0 genome.wustl.edu 37 13 36878523 36878523 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 36878523 36878523 C T SNP SPG20 ENST00000355182 human ensembl 74_37 -1 known silent c.1980 p.E660 0.029 NULL pfam_Senescence/spartin,pfam_MIT,smart_MIT - no_errors SPG20 HGNC ENSG00000133104 198 0 0 118 42 26.25 CCNA1 0 genome.wustl.edu 37 13 37014191 37014191 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 37014191 37014191 A G SNP CCNA1 ENST00000255465 human ensembl 74_37 +1 known silent c.969 p.Q323 0.720 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNA1 HGNC ENSG00000133101 99 0 0 68 18 20.9302 FOXO1 0 genome.wustl.edu 37 13 41134254 41134254 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 41134254 41134254 C T SNP FOXO1 ENST00000379561 human ensembl 74_37 -1 known silent c.1374 p.A458 0.739 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO1 HGNC ENSG00000150907 76 0 0 41 10 19.6078 KBTBD6 0 genome.wustl.edu 37 13 41705170 41705170 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 41705170 41705170 C T SNP KBTBD6 ENST00000379485 human ensembl 74_37 -1 known missense c.1478 p.R493H 1.000 NULL pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KBTBD6 HGNC ENSG00000165572 88 0 0 63 6 8.69565 KBTBD6 0 genome.wustl.edu 37 13 41705357 41705357 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 41705357 41705357 C T SNP KBTBD6 ENST00000379485 human ensembl 74_37 -1 known missense c.1291 p.A431T 1.000 pfam_Kelch_1 pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KBTBD6 HGNC ENSG00000165572 127 0 0 96 29 23.2 MTRF1 0 genome.wustl.edu 37 13 41834827 41834827 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 41834827 41834827 T C SNP MTRF1 ENST00000430347 human ensembl 74_37 -1 known missense c.256 p.K86E 1.000 NULL pfam_Pep_chain_release_fac_I_II,pfam_PCRF,smart_PCRF - no_errors MTRF1 HGNC ENSG00000120662 198 0 0 167 14 7.73481 VWA8 0 genome.wustl.edu 37 13 42465597 42465597 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 42465597 42465597 G A SNP VWA8 ENST00000379310 human ensembl 74_37 -1 known missense c.610 p.R204C 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 175 0 0 98 43 30.4965 DGKH 0 genome.wustl.edu 37 13 42793448 42793448 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 42793448 42793448 C T SNP DGKH ENST00000337343 human ensembl 74_37 +1 known missense c.3296 p.P1099L 0.988 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKH HGNC ENSG00000102780 217 0 0 159 14 8.09249 AKAP11 0 genome.wustl.edu 37 13 42875031 42875031 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 42875031 42875031 G A SNP AKAP11 ENST00000025301 human ensembl 74_37 +1 known missense c.2149 p.A717T 1.000 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 138 0 0 81 45 35.7143 AKAP11 0 genome.wustl.edu 37 13 42876608 42876608 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 42876608 42876608 G A SNP AKAP11 ENST00000025301 human ensembl 74_37 +1 known silent c.3726 p.S1242 0.020 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 108 0 0 78 26 25 SLC25A30 0 genome.wustl.edu 37 13 45983111 45983111 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 45983111 45983111 C T SNP SLC25A30 ENST00000519676 human ensembl 74_37 -1 known missense c.163 p.A55T 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling,prints_Mit_carrier - no_errors SLC25A30 HGNC ENSG00000174032 142 0 0 85 25 22.7273 ARL11 0 genome.wustl.edu 37 13 50204926 50204926 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 50204926 50204926 G A SNP ARL11 ENST00000282026 human ensembl 74_37 +1 known missense c.343 p.V115I 0.072 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom - no_errors ARL11 HGNC ENSG00000152213 60 0 0 42 31 42.4658 SPRYD7 0 genome.wustl.edu 37 13 50505205 50505205 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 50505205 50505205 C T SNP SPRYD7 ENST00000361840 human ensembl 74_37 -1 known missense c.172 p.A58T 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY - no_errors SPRYD7 HGNC ENSG00000123178 64 0 0 44 12 21.4286 FAM124A 0 genome.wustl.edu 37 13 51855296 51855296 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 51855296 51855296 C T SNP FAM124A ENST00000280057 human ensembl 74_37 +1 known silent c.1653 p.C551 0.000 NULL NULL - no_errors FAM124A HGNC ENSG00000150510 64 0 0 45 5 10 INTS6 0 genome.wustl.edu 37 13 51953678 51953678 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 51953678 51953678 C T SNP INTS6 ENST00000311234 human ensembl 74_37 -1 known missense c.1306 p.A436T 1.000 NULL pfam_VWF_A,pfscan_VWF_A - no_errors INTS6 HGNC ENSG00000102786 113 0 0 68 19 21.8391 CCDC70 0 genome.wustl.edu 37 13 52439935 52439935 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 52439935 52439935 G A SNP CCDC70 ENST00000242819 human ensembl 74_37 +1 known missense c.421 p.A141T 0.005 NULL NULL - no_errors CCDC70 HGNC ENSG00000123171 233 0 0 189 10 5.02513 ALG11 0 genome.wustl.edu 37 13 52598400 52598400 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 52598400 52598400 C T SNP ALG11 ENST00000521508 human ensembl 74_37 +1 known silent c.534 p.Y178 0.070 NULL pfam_Glyco_trans_1 - no_errors ALG11 HGNC ENSG00000253710 128 1 0.775194 90 31 25.6198 UTP14C 0 genome.wustl.edu 37 13 52603935 52603935 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 52603935 52603935 T C SNP UTP14C ENST00000521776 human ensembl 74_37 +1 known missense c.995 p.L332P 1.000 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14C HGNC ENSG00000253797 144 0 0 99 24 19.5122 THSD1 0 genome.wustl.edu 37 13 52960256 52960256 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 52960256 52960256 G A SNP THSD1 ENST00000258613 human ensembl 74_37 -1 known missense c.1087 p.R363C 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC ENSG00000136114 138 0 0 82 30 26.7857 LECT1 0 genome.wustl.edu 37 13 53282677 53282677 + Silent SNP A A C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 53282677 53282677 A C SNP LECT1 ENST00000377962 human ensembl 74_37 -1 known silent c.783 p.P261 0.989 NULL pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors LECT1 HGNC ENSG00000136110 65 0 0 27 16 37.2093 PCDH8 0 genome.wustl.edu 37 13 53418988 53418988 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 53418988 53418988 C T SNP PCDH8 ENST00000377942 human ensembl 74_37 -1 known missense c.2920 p.A974T 0.049 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH8 HGNC ENSG00000136099 37 0 0 25 21 45.6522 OLFM4 0 genome.wustl.edu 37 13 53624246 53624246 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 53624246 53624246 G A SNP OLFM4 ENST00000219022 human ensembl 74_37 +1 known silent c.873 p.A291 0.202 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM4 HGNC ENSG00000102837 100 0 0 68 5 6.84932 PCDH17 0 genome.wustl.edu 37 13 58208511 58208511 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 58208511 58208511 C T SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.1831 p.R611C 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 PCDH17 HGNC ENSG00000118946 44 0 0 19 6 24 PCDH20 0 genome.wustl.edu 37 13 61986229 61986229 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 61986229 61986229 G T SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known missense c.2003 p.A668D 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 121 0 0 69 18 20.6897 DACH1 0 genome.wustl.edu 37 13 72049901 72049901 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 72049901 72049901 G A SNP DACH1 ENST00000359684 human ensembl 74_37 -1 known missense c.2113 p.R705C 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH1 HGNC ENSG00000165659 204 0 0 179 11 5.78947 BORA 0 genome.wustl.edu 37 13 73321194 73321194 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 73321194 73321194 G A SNP BORA ENST00000390667 human ensembl 74_37 +1 known missense c.1427 p.C476Y 1.000 NULL prints_Aurora_borealis_protien - no_errors BORA HGNC ENSG00000136122 230 0 0 163 39 19.3069 LMO7 0 genome.wustl.edu 37 13 76379754 76379754 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 76379754 76379754 C T SNP LMO7 ENST00000357063 human ensembl 74_37 +1 known missense c.1210 p.R404C 1.000 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 426 0 0 283 75 20.9497 LMO7 0 genome.wustl.edu 37 13 76391408 76391408 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 76391408 76391408 G A SNP LMO7 ENST00000357063 human ensembl 74_37 +1 known nonsense c.2214 p.W738* 1.000 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 135 0 0 84 30 26.3158 LMO7 0 genome.wustl.edu 37 13 76408509 76408509 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 76408509 76408509 G A SNP LMO7 ENST00000357063 human ensembl 74_37 +1 known missense c.3368 p.R1123H 1.000 superfamily_PDZ,smart_PDZ pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 91 0 0 91 8 8.08081 LMO7 0 genome.wustl.edu 37 13 76427231 76427231 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 76427231 76427231 C T SNP LMO7 ENST00000357063 human ensembl 74_37 +1 known silent c.4524 p.G1508 0.635 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 70 0 0 31 12 27.907 FBXL3 0 genome.wustl.edu 37 13 77592810 77592810 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 77592810 77592810 C T SNP FBXL3 ENST00000355619 human ensembl 74_37 -1 known silent c.396 p.S132 0.166 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom - no_errors FBXL3 HGNC ENSG00000005812 91 0 0 66 8 10.8108 MYCBP2 0 genome.wustl.edu 37 13 77807298 77807298 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 77807298 77807298 C T SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known silent c.2730 p.K910 1.000 superfamily_RCC1/BLIP-II,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 232 0 0 181 14 7.17949 SCEL 0 genome.wustl.edu 37 13 78188060 78188060 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 78188060 78188060 T C SNP SCEL ENST00000349847 human ensembl 74_37 +1 known missense c.1421 p.V474A 0.496 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors SCEL HGNC ENSG00000136155 141 0 0 110 6 5.17241 SLAIN1 0 genome.wustl.edu 37 13 78318625 78318625 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 78318625 78318625 G A SNP SLAIN1 ENST00000465831 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SLAIN1 HGNC ENSG00000139737 27 0 0 15 7 31.8182 EDNRB 0 genome.wustl.edu 37 13 78492681 78492681 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 78492681 78492681 G A SNP EDNRB ENST00000334286 human ensembl 74_37 -1 known missense c.28 p.R10C 0.005 prints_ETB_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 17 0 0 15 7 31.8182 EDNRB 0 genome.wustl.edu 37 13 78492730 78492730 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 78492730 78492730 C T SNP EDNRB ENST00000377211 human ensembl 74_37 -1 putative silent c.249 p.T83 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 14 0 0 3 4 57.1429 POU4F1 0 genome.wustl.edu 37 13 79175910 79175910 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 79175910 79175910 G A SNP POU4F1 ENST00000377208 human ensembl 74_37 -1 known silent c.900 p.G300 0.999 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F1 HGNC ENSG00000152192 18 0 0 9 6 40 RBM26 0 genome.wustl.edu 37 13 79943029 79943029 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 79943029 79943029 C T SNP RBM26 ENST00000438724 human ensembl 74_37 -1 known missense c.731 p.G244D 1.000 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM26 HGNC ENSG00000139746 150 0 0 122 7 5.42636 SLITRK6 0 genome.wustl.edu 37 13 86369760 86369760 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 86369760 86369760 C T SNP SLITRK6 ENST00000400286 human ensembl 74_37 -1 known missense c.884 p.R295H 0.013 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 116 0 0 90 22 19.6429 SLITRK5 0 genome.wustl.edu 37 13 88329951 88329951 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 88329951 88329951 G T SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.2308 p.G770C 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 100 0 0 50 5 9.09091 MIR17HG 0 genome.wustl.edu 37 13 92003419 92003419 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 92003419 92003419 G A SNP MIR17HG ENST00000581816 human ensembl 74_37 +1 known rna NULL NULL 0.018 - - - no_errors MIR17HG HGNC ENSG00000215417 202 0 0 174 25 12.5628 GPC5 0 genome.wustl.edu 37 13 92345910 92345910 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 92345910 92345910 G A SNP GPC5 ENST00000377067 human ensembl 74_37 +1 known silent c.795 p.A265 0.000 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 44 0 0 49 11 18.3333 GPC6 0 genome.wustl.edu 37 13 94958286 94958286 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 94958286 94958286 G A SNP GPC6 ENST00000377047 human ensembl 74_37 +1 known missense c.1061 p.R354H 1.000 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 169 0 0 144 11 7.09677 DZIP1 0 genome.wustl.edu 37 13 96239899 96239899 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 96239899 96239899 C T SNP DZIP1 ENST00000347108 human ensembl 74_37 -1 known silent c.2112 p.P704 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DZIP1 HGNC ENSG00000134874 60 0 0 41 5 10.8696 HS6ST3 0 genome.wustl.edu 37 13 97485082 97485082 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 97485082 97485082 C T SNP HS6ST3 ENST00000376705 human ensembl 74_37 +1 known missense c.1046 p.A349V 1.000 pfam_Sulfotransferase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST3 HGNC ENSG00000185352 104 0 0 90 5 5.26316 OXGR1 0 genome.wustl.edu 37 13 97639229 97639229 + Missense_Mutation SNP A A C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 97639229 97639229 A C SNP OXGR1 ENST00000298440 human ensembl 74_37 -1 known missense c.785 p.V262G 0.980 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors OXGR1 HGNC ENSG00000165621 89 0 0 78 5 6.0241 MBNL2 0 genome.wustl.edu 37 13 98009823 98009823 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 98009823 98009823 G A SNP MBNL2 ENST00000376673 human ensembl 74_37 +1 known missense c.892 p.V298I 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors MBNL2 HGNC ENSG00000139793 146 0 0 103 46 30.8725 RNF113B 0 genome.wustl.edu 37 13 98829385 98829385 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 98829385 98829385 G A SNP RNF113B ENST00000267291 human ensembl 74_37 -1 known missense c.106 p.R36C 0.975 NULL pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF113B HGNC ENSG00000139797 21 0 0 9 7 43.75 FARP1 0 genome.wustl.edu 37 13 99042215 99042215 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 99042215 99042215 C T SNP FARP1 ENST00000376586 human ensembl 74_37 +1 known missense c.860 p.A287V 0.955 pfam_FERM_PH-like_C,pfscan_FERM_domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FARP1 HGNC ENSG00000152767 107 1 0.925926 82 7 7.86517 MIR379 0 genome.wustl.edu 37 14 101488429 101488429 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 101488429 101488429 C T SNP MIR379 ENST00000362218 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR379 HGNC ENSG00000199088 57 0 0 48 17 26.1538 MIR134 0 genome.wustl.edu 37 14 101521030 101521030 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 101521030 101521030 G A SNP MIR134 ENST00000385258 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR134 HGNC ENSG00000207993 28 0 0 23 12 34.2857 PPP2R5C 0 genome.wustl.edu 37 14 102349641 102349641 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 102349641 102349641 A G SNP PPP2R5C ENST00000422945 human ensembl 74_37 +1 known silent c.546 p.Q182 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 60 0 0 49 20 28.9855 PPP2R5C 0 genome.wustl.edu 37 14 102356590 102356590 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 102356590 102356590 G A SNP PPP2R5C ENST00000422945 human ensembl 74_37 +1 known missense c.739 p.E247K 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 79 0 0 38 24 38.7097 DYNC1H1 0 genome.wustl.edu 37 14 102453010 102453010 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 102453010 102453010 C T SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known silent c.2448 p.I816 0.978 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 100 1 0.990099 64 13 16.8831 DYNC1H1 0 genome.wustl.edu 37 14 102469005 102469005 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 102469005 102469005 G T SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.4674 p.K1558N 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 124 0 0 103 15 12.7119 CDC42BPB 0 genome.wustl.edu 37 14 103442313 103442313 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 103442313 103442313 G A SNP CDC42BPB ENST00000361246 human ensembl 74_37 -1 known missense c.1294 p.R432W 1.000 NULL pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,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,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC ENSG00000198752 75 0 0 70 5 6.66667 CDC42BPB 0 genome.wustl.edu 37 14 103447231 103447231 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 103447231 103447231 G A SNP CDC42BPB ENST00000361246 human ensembl 74_37 -1 known missense c.1019 p.A340V 0.604 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_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,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,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC ENSG00000198752 109 0 0 72 22 23.4043 EXOC3L4 0 genome.wustl.edu 37 14 103574016 103574016 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 103574016 103574016 C T SNP EXOC3L4 ENST00000380069 human ensembl 74_37 +1 known missense c.1750 p.R584W 0.032 pfam_Sec6 pfam_Sec6 - no_errors EXOC3L4 HGNC ENSG00000205436 10 0 0 2 3 60 MARK3 0 genome.wustl.edu 37 14 103941507 103941507 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 103941507 103941507 C T SNP MARK3 ENST00000429436 human ensembl 74_37 +1 known missense c.1442 p.A481V 0.999 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK3 HGNC ENSG00000075413 88 0 0 59 14 19.1781 ZFYVE21 0 genome.wustl.edu 37 14 104194182 104194182 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 104194182 104194182 G A SNP ZFYVE21 ENST00000216602 human ensembl 74_37 +1 known missense c.289 p.A97T 0.998 pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE21 HGNC ENSG00000100711 26 0 0 25 8 24.2424 ADSSL1 0 genome.wustl.edu 37 14 105208225 105208225 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 105208225 105208225 C T SNP ADSSL1 ENST00000332972 human ensembl 74_37 +1 known silent c.963 p.G321 0.131 pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase - no_errors ADSSL1 HGNC ENSG00000185100 107 0 0 65 29 30.8511 AHNAK2 0 genome.wustl.edu 37 14 105406357 105406357 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 105406357 105406357 C T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.15431 p.S5144N 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 75 0 0 69 21 23.3333 AHNAK2 0 genome.wustl.edu 37 14 105411840 105411840 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 105411840 105411840 C T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.9948 p.P3316 0.008 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 338 0 0 235 74 23.9482 AHNAK2 0 genome.wustl.edu 37 14 105413326 105413326 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 105413326 105413326 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.8462 p.P2821L 0.988 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 394 0 0 246 82 25 AHNAK2 0 genome.wustl.edu 37 14 105415885 105415885 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 105415885 105415885 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.5903 p.A1968V 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 257 0 0 162 51 23.9437 CDCA4 0 genome.wustl.edu 37 14 105478028 105478028 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 105478028 105478028 C T SNP CDCA4 ENST00000336219 human ensembl 74_37 -1 known missense c.239 p.R80H 0.588 NULL pfam_SERTA,pfscan_SERTA - no_errors CDCA4 HGNC ENSG00000170779 36 0 0 31 4 11.4286 GPR132 0 genome.wustl.edu 37 14 105517738 105517738 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 105517738 105517738 C T SNP GPR132 ENST00000329797 human ensembl 74_37 -1 known missense c.736 p.A246T 0.013 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_G2A_lysphc_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR132 HGNC ENSG00000183484 69 0 0 33 24 42.1053 JAG2 0 genome.wustl.edu 37 14 105618517 105618517 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 105618517 105618517 G A SNP JAG2 ENST00000331782 human ensembl 74_37 -1 known silent c.900 p.G300 0.969 smart_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,pfscan_VWF_C - no_errors JAG2 HGNC ENSG00000184916 56 0 0 49 9 15.5172 BRF1 0 genome.wustl.edu 37 14 105707625 105707625 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 105707625 105707625 C T SNP BRF1 ENST00000546474 human ensembl 74_37 -1 known missense c.671 p.R224H 1.000 pfam_TFIIB_cyclin,superfamily_Cyclin-like,smart_Cyclin-like,prints_TFIIB pfam_TFIIB_cyclin,pfam_BRF1_TBP-bd,pfam_Znf_TFIIB,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB - no_errors BRF1 HGNC ENSG00000185024 20 0 0 7 8 53.3333 BTBD6 0 genome.wustl.edu 37 14 105716187 105716187 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 105716187 105716187 C T SNP BTBD6 ENST00000392554 human ensembl 74_37 +1 known silent c.636 p.D212 0.686 pfam_BACK,smart_BACK pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD6 HGNC ENSG00000184887 19 0 0 20 8 28.5714 ENSG00000244306 0 genome.wustl.edu 37 14 19855474 19855474 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 19855474 19855474 C T SNP ENSG00000244306 ENST00000551334 human ensembl 74_37 -1 known rna NULL NULL 0.987 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene ENSG00000244306 32 0 0 23 4 14.8148 OR4K1 0 genome.wustl.edu 37 14 20404274 20404274 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 20404274 20404274 C T SNP OR4K1 ENST00000285600 human ensembl 74_37 +1 known missense c.449 p.A150V 0.226 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 OR4K1 HGNC ENSG00000155249 174 0 0 150 12 7.40741 OR4K1 0 genome.wustl.edu 37 14 20404350 20404350 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 20404350 20404350 T C SNP OR4K1 ENST00000285600 human ensembl 74_37 +1 known silent c.525 p.D175 0.171 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 OR4K1 HGNC ENSG00000155249 200 0 0 170 33 16.2562 TTC5 0 genome.wustl.edu 37 14 20763639 20763639 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 20763639 20763639 C T SNP TTC5 ENST00000258821 human ensembl 74_37 -1 known missense c.890 p.R297H 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC5 HGNC ENSG00000136319 48 0 0 22 12 35.2941 CCNB1IP1 0 genome.wustl.edu 37 14 20784573 20784573 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 20784573 20784573 C T SNP CCNB1IP1 ENST00000353689 human ensembl 74_37 -1 known missense c.110 p.G37D 1.000 NULL NULL - no_errors CCNB1IP1 HGNC ENSG00000100814 76 0 0 50 7 12.2807 TEP1 0 genome.wustl.edu 37 14 20836631 20836631 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 20836631 20836631 C T SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known missense c.7849 p.V2617M 0.010 NULL pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 79 0 0 47 21 30.8824 TEP1 0 genome.wustl.edu 37 14 20853143 20853143 + Splice_Site SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 20853143 20853143 C T SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known splice_site c.3107+1 e20+1 1.000 - - - no_errors TEP1 HGNC ENSG00000129566 33 0 0 26 7 21.2121 RNASE4 0 genome.wustl.edu 37 14 21167643 21167643 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 21167643 21167643 G A SNP RNASE4 ENST00000304704 human ensembl 74_37 +1 known missense c.113 p.R38Q 0.995 pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE4 HGNC ENSG00000258818 78 0 0 70 5 6.66667 ARHGEF40 0 genome.wustl.edu 37 14 21542396 21542396 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 21542396 21542396 G A SNP ARHGEF40 ENST00000298694 human ensembl 74_37 +1 known silent c.507 p.A169 0.011 NULL pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF40 HGNC ENSG00000165801 50 0 0 26 5 16.129 HNRNPC 0 genome.wustl.edu 37 14 21702318 21702318 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 21702318 21702318 C T SNP HNRNPC ENST00000320084 human ensembl 74_37 -1 known missense c.35 p.R12H 1.000 pirsf_hnRNP_C_Raly pfam_RRM_dom,superfamily_Regulat_G_prot_signal_superfam,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors HNRNPC HGNC ENSG00000092199 118 1 0.840336 59 28 32.1839 CHD8 0 genome.wustl.edu 37 14 21873401 21873401 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 21873401 21873401 G A SNP CHD8 ENST00000399982 human ensembl 74_37 -1 known missense c.3274 p.R1092C 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,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 CHD8 HGNC ENSG00000100888 36 0 0 21 10 32.2581 OR10G3 0 genome.wustl.edu 37 14 22038134 22038134 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 22038134 22038134 C T SNP OR10G3 ENST00000303532 human ensembl 74_37 -1 known missense c.742 p.V248M 0.773 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G3 HGNC ENSG00000169208 102 0 0 71 28 28.2828 IL25 0 genome.wustl.edu 37 14 23845030 23845030 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 23845030 23845030 C T SNP IL25 ENST00000329715 human ensembl 74_37 +1 known missense c.475 p.R159C 1.000 pfam_IL-17_fam pfam_IL-17_fam - no_errors IL25 HGNC ENSG00000166090 57 0 0 41 11 21.1538 MYH6 0 genome.wustl.edu 37 14 23862233 23862233 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 23862233 23862233 G A SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known missense c.3139 p.R1047C 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 70 0 0 67 8 10.6667 MYH7 0 genome.wustl.edu 37 14 23886441 23886441 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 23886441 23886441 C A SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.4440 p.E1480D 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 140 0 0 110 7 5.98291 PCK2 0 genome.wustl.edu 37 14 24572751 24572751 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 24572751 24572751 C T SNP PCK2 ENST00000216780 human ensembl 74_37 +1 known missense c.1501 p.R501W 1.000 pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP - no_errors PCK2 HGNC ENSG00000100889 113 0 0 48 22 31.4286 RNF31 0 genome.wustl.edu 37 14 24618731 24618731 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 24618731 24618731 C T SNP RNF31 ENST00000324103 human ensembl 74_37 +1 known missense c.748 p.R250C 1.000 NULL pfam_PUB_domain,pfam_Znf_C6HC,superfamily_UBA-like,superfamily_DEATH-like_dom,superfamily_Znf_FYVE_PHD,smart_Znf_RanBP2,smart_Znf_C6HC,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RanBP2 - no_errors RNF31 HGNC ENSG00000092098 83 0 0 56 21 27.2727 RNF31 0 genome.wustl.edu 37 14 24620776 24620776 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 24620776 24620776 G A SNP RNF31 ENST00000324103 human ensembl 74_37 +1 known missense c.1820 p.R607Q 0.997 superfamily_UBA-like,superfamily_DEATH-like_dom,pfscan_UBA/transl_elong_EF1B_N_euk 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 44 0 0 28 10 26.3158 REC8 0 genome.wustl.edu 37 14 24642219 24642219 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 24642219 24642219 C T SNP REC8 ENST00000311457 human ensembl 74_37 +1 known silent c.237 p.R79 0.858 pfam_Rad21_Rec8_N pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu - no_errors REC8 HGNC ENSG00000100918 102 0 0 67 22 24.7191 IPO4 0 genome.wustl.edu 37 14 24654160 24654160 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 24654160 24654160 C T SNP IPO4 ENST00000354464 human ensembl 74_37 -1 known missense c.1435 p.E479K 0.991 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors IPO4 HGNC ENSG00000196497 30 0 0 22 3 12 ADCY4 0 genome.wustl.edu 37 14 24791279 24791279 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 24791279 24791279 C T SNP ADCY4 ENST00000310677 human ensembl 74_37 -1 known missense c.2579 p.R860H 1.000 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 ADCY4 HGNC ENSG00000129467 104 0 0 43 23 34.8485 ADCY4 0 genome.wustl.edu 37 14 24792217 24792217 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 24792217 24792217 C T SNP ADCY4 ENST00000310677 human ensembl 74_37 -1 known silent c.2235 p.L745 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 21 0 0 25 4 13.7931 KHNYN 0 genome.wustl.edu 37 14 24900835 24900835 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 24900835 24900835 G A SNP KHNYN ENST00000251343 human ensembl 74_37 +1 known missense c.368 p.G123D 1.000 NULL pfam_RNase_Zc3h12 - no_errors KHNYN HGNC ENSG00000100441 48 0 0 33 9 21.4286 LOC100506071 0 genome.wustl.edu 37 14 31354324 31354324 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 31354324 31354324 C T SNP LOC100506071 ENST00000555421 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-829H16.3 Clone_based_vega_gene ENSG00000258525 104 0 0 74 35 32.1101 HECTD1 0 genome.wustl.edu 37 14 31604296 31604296 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 31604296 31604296 A G SNP HECTD1 ENST00000399332 human ensembl 74_37 -1 known silent c.3360 p.R1120 1.000 pfam_Sad1_UNC_C,superfamily_Galactose-bd-like pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC ENSG00000092148 124 0 0 113 41 26.6234 BAZ1A 0 genome.wustl.edu 37 14 35240741 35240741 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 35240741 35240741 G A SNP BAZ1A ENST00000360310 human ensembl 74_37 -1 known missense c.3277 p.R1093W 1.000 NULL pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1A HGNC ENSG00000198604 235 0 0 222 20 8.26446 KIAA0391 0 genome.wustl.edu 37 14 35739649 35739649 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 35739649 35739649 C T SNP KIAA0391 ENST00000534898 human ensembl 74_37 +1 known silent c.1467 p.S489 0.078 NULL NULL - no_errors KIAA0391 HGNC ENSG00000100890 118 0 0 69 30 30.303 SSTR1 0 genome.wustl.edu 37 14 38678974 38678974 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 38678974 38678974 C T SNP SSTR1 ENST00000267377 human ensembl 74_37 +1 known missense c.380 p.A127V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_1,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,prints_Neuropept_B/W_rcpt - no_errors SSTR1 HGNC ENSG00000139874 137 0 0 103 30 22.5564 SSTR1 0 genome.wustl.edu 37 14 38679346 38679346 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 38679346 38679346 G A SNP SSTR1 ENST00000267377 human ensembl 74_37 +1 known missense c.752 p.R251H 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_Somatstn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_1,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,prints_Neuropept_B/W_rcpt - no_errors SSTR1 HGNC ENSG00000139874 59 0 0 44 4 8.33333 CLEC14A 0 genome.wustl.edu 37 14 38724733 38724733 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 38724733 38724733 G A SNP CLEC14A ENST00000342213 human ensembl 74_37 -1 known silent c.495 p.R165 0.960 superfamily_C-type_lectin_fold,smart_C-type_lectin superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC14A HGNC ENSG00000176435 24 0 0 23 9 28.125 CLEC14A 0 genome.wustl.edu 37 14 38724747 38724747 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 38724747 38724747 G A SNP CLEC14A ENST00000342213 human ensembl 74_37 -1 known nonsense c.481 p.R161* 0.920 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC14A HGNC ENSG00000176435 19 0 0 23 3 11.5385 KLHL28 0 genome.wustl.edu 37 14 45400591 45400591 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 45400591 45400591 G A SNP KLHL28 ENST00000396128 human ensembl 74_37 -1 known silent c.1497 p.Y499 0.993 pfam_Kelch_1,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 67 0 0 46 18 28.125 FAM179B 0 genome.wustl.edu 37 14 45473399 45473399 + Missense_Mutation SNP C C G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 45473399 45473399 C G SNP FAM179B ENST00000361577 human ensembl 74_37 +1 known missense c.2474 p.T825S 0.997 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 139 0 0 81 24 22.8571 PRPF39 0 genome.wustl.edu 37 14 45579902 45579902 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 45579902 45579902 C T SNP PRPF39 ENST00000355765 human ensembl 74_37 +1 known missense c.1454 p.A485V 1.000 NULL smart_HAT - no_errors PRPF39 HGNC ENSG00000185246 29 0 0 17 4 19.0476 FANCM 0 genome.wustl.edu 37 14 45667954 45667954 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 45667954 45667954 G A SNP FANCM ENST00000267430 human ensembl 74_37 +1 known missense c.5824 p.A1942T 1.000 superfamily_Restrct_endonuc-II-like 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 105 0 0 69 19 21.5909 NIN 0 genome.wustl.edu 37 14 51210171 51210171 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 51210171 51210171 G A SNP NIN ENST00000245441 human ensembl 74_37 -1 known missense c.5264 p.A1755V 0.753 NULL superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 50 0 0 31 29 48.3333 TRIM9 0 genome.wustl.edu 37 14 51448575 51448575 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 51448575 51448575 G A SNP TRIM9 ENST00000338969 human ensembl 74_37 -1 known missense c.2093 p.A698V 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY 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 162 0 0 123 10 7.5188 TRIM9 0 genome.wustl.edu 37 14 51560869 51560869 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 51560869 51560869 G A SNP TRIM9 ENST00000338969 human ensembl 74_37 -1 known silent c.789 p.V263 1.000 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box 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 92 0 0 66 16 19.5122 TRIM9 0 genome.wustl.edu 37 14 51561103 51561103 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 51561103 51561103 G A SNP TRIM9 ENST00000338969 human ensembl 74_37 -1 known silent c.555 p.C185 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_B-box,pfscan_Znf_B-box 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 37 0 0 11 4 26.6667 FRMD6 0 genome.wustl.edu 37 14 52169261 52169261 + Missense_Mutation SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 52169261 52169261 T A SNP FRMD6 ENST00000344768 human ensembl 74_37 +1 known missense c.326 p.I109N 1.000 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD6 HGNC ENSG00000139926 181 0 0 125 29 18.8312 NID2 0 genome.wustl.edu 37 14 52477679 52477679 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 52477679 52477679 C T SNP NID2 ENST00000216286 human ensembl 74_37 -1 known missense c.3637 p.A1213T 0.986 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID2 HGNC ENSG00000087303 113 0 0 70 22 23.913 TXNDC16 0 genome.wustl.edu 37 14 52981604 52981604 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 52981604 52981604 C T SNP TXNDC16 ENST00000281741 human ensembl 74_37 -1 known missense c.599 p.S200N 0.980 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC16 HGNC ENSG00000087301 214 0 0 141 44 23.7838 ERO1L 0 genome.wustl.edu 37 14 53130502 53130502 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 53130502 53130502 G A SNP ERO1L ENST00000554019 human ensembl 74_37 -1 known silent c.693 p.C231 0.004 pfam_Ero1 pfam_Ero1 - no_errors ERO1L HGNC ENSG00000197930 42 0 0 33 12 26.6667 DDHD1 0 genome.wustl.edu 37 14 53525293 53525293 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 53525293 53525293 G A SNP DDHD1 ENST00000323669 human ensembl 74_37 -1 known missense c.1894 p.R632C 1.000 pfam_DDHD,pfscan_DDHD pfam_DDHD,pfscan_DDHD - no_errors DDHD1 HGNC ENSG00000100523 72 0 0 57 22 27.8481 SAMD4A 0 genome.wustl.edu 37 14 55251329 55251329 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 55251329 55251329 G A SNP SAMD4A ENST00000392067 human ensembl 74_37 +1 known missense c.2119 p.A707T 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4A HGNC ENSG00000020577 102 0 0 105 8 7.07965 ATG14 0 genome.wustl.edu 37 14 55836529 55836529 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 55836529 55836529 G A SNP ATG14 ENST00000247178 human ensembl 74_37 -1 known silent c.1287 p.T429 0.018 NULL pfam_UV_resistance/autophagy_Atg14 - no_errors ATG14 HGNC ENSG00000126775 57 0 0 37 27 42.1875 ATG14 0 genome.wustl.edu 37 14 55836547 55836547 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 55836547 55836547 G A SNP ATG14 ENST00000247178 human ensembl 74_37 -1 known silent c.1269 p.R423 0.000 NULL pfam_UV_resistance/autophagy_Atg14 - no_errors ATG14 HGNC ENSG00000126775 72 0 0 52 25 32.4675 TBPL2 0 genome.wustl.edu 37 14 55903506 55903506 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 55903506 55903506 G A SNP TBPL2 ENST00000247219 human ensembl 74_37 -1 known silent c.381 p.S127 0.002 NULL pfam_TBP,prints_TBP - no_errors TBPL2 HGNC ENSG00000182521 81 0 0 54 25 31.6456 TMEM260 0 genome.wustl.edu 37 14 57085368 57085368 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 57085368 57085368 T C SNP TMEM260 ENST00000261556 human ensembl 74_37 +1 known silent c.1113 p.G371 0.147 NULL pfam_DUF2723 - no_errors TMEM260 HGNC ENSG00000070269 82 0 0 57 16 21.9178 KIAA0586 0 genome.wustl.edu 37 14 58934588 58934588 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 58934588 58934588 C T SNP KIAA0586 ENST00000556134 human ensembl 74_37 +1 known missense c.2345 p.A782V 1.000 NULL NULL - no_errors KIAA0586 HGNC ENSG00000100578 174 0 0 118 19 13.8686 L3HYPDH 0 genome.wustl.edu 37 14 59939804 59939804 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 59939804 59939804 G A SNP L3HYPDH ENST00000247194 human ensembl 74_37 -1 known missense c.944 p.A315V 0.973 pfam_Pro_racemase_fam,pirsf_Pro_racemase_fam pfam_Pro_racemase_fam,pirsf_Pro_racemase_fam - no_errors L3HYPDH HGNC ENSG00000126790 117 0 0 88 30 25.4237 PCNXL4 0 genome.wustl.edu 37 14 60574805 60574805 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 60574805 60574805 C T SNP PCNXL4 ENST00000404681 human ensembl 74_37 +1 known missense c.449 p.A150V 0.021 NULL pfam_Pecanex - no_errors PCNXL4 HGNC ENSG00000126773 73 0 0 44 16 26.6667 PPM1A 0 genome.wustl.edu 37 14 60749747 60749747 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 60749747 60749747 A G SNP PPM1A ENST00000325642 human ensembl 74_37 +1 known missense c.545 p.D182G 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 PPM1A HGNC ENSG00000100614 138 0 0 97 34 25.9542 PPM1A 0 genome.wustl.edu 37 14 60756574 60756574 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 60756574 60756574 C T SNP PPM1A ENST00000325642 human ensembl 74_37 +1 known missense c.1222 p.R408C 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 PPM1A HGNC ENSG00000100614 50 0 0 49 11 18.3333 PRKCH 0 genome.wustl.edu 37 14 61997194 61997194 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 61997194 61997194 C T SNP PRKCH ENST00000332981 human ensembl 74_37 +1 known missense c.1642 p.L548F 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCH HGNC ENSG00000027075 188 0 0 163 17 9.44444 PPP2R5E 0 genome.wustl.edu 37 14 63856359 63856359 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 63856359 63856359 C T SNP PPP2R5E ENST00000337537 human ensembl 74_37 -1 known missense c.1045 p.A349T 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5E HGNC ENSG00000154001 70 0 0 57 8 12.3077 SYNE2 0 genome.wustl.edu 37 14 64518405 64518405 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 64518405 64518405 G A SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.7774 p.D2592N 1.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 108 0 0 55 14 20.2899 SYNE2 0 genome.wustl.edu 37 14 64519034 64519034 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 64519034 64519034 C T SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known silent c.8403 p.G2801 0.000 smart_Spectrin/alpha-actinin 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 118 0 0 75 26 25.7426 SYNE2 0 genome.wustl.edu 37 14 64542723 64542723 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 64542723 64542723 C T SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known nonsense c.10927 p.R3643* 0.995 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 81 0 0 41 20 32.7869 SYNE2 0 genome.wustl.edu 37 14 64676162 64676162 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 64676162 64676162 C T SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.18406 p.R6136C 1.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 56 0 0 33 11 25 SYNE2 0 genome.wustl.edu 37 14 64678805 64678805 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 64678805 64678805 C T SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.18850 p.R6284C 1.000 smart_Spectrin/alpha-actinin 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 139 0 0 100 34 25.3731 HSPA2 0 genome.wustl.edu 37 14 65008477 65008477 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 65008477 65008477 C T SNP HSPA2 ENST00000247207 human ensembl 74_37 +1 known missense c.910 p.R304C 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA2 HGNC ENSG00000126803 22 0 0 13 13 50 GPHN 0 genome.wustl.edu 37 14 67389441 67389441 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 67389441 67389441 C T SNP GPHN ENST00000478722 human ensembl 74_37 +1 known missense c.515 p.A172V 1.000 NULL pfam_Mopterin-bd_dom,pfam_MoeA_linker/N,pfam_MoeA_C_domain_IV,superfamily_MoeA_linker/N,superfamily_Mopterin-bd_dom,superfamily_MoeA_C_domain_IV,smart_Mopterin-bd_dom,tigrfam_Mo_cofactor_synthesis - no_errors GPHN HGNC ENSG00000171723 157 1 0.632911 146 32 17.9775 DCAF5 0 genome.wustl.edu 37 14 69521638 69521638 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 69521638 69521638 G A SNP DCAF5 ENST00000341516 human ensembl 74_37 -1 known missense c.1765 p.R589C 0.998 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF5 HGNC ENSG00000139990 87 0 0 57 28 32.9412 GALNT16 0 genome.wustl.edu 37 14 69726992 69726992 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 69726992 69726992 C T SNP GALNT16 ENST00000554317 human ensembl 74_37 +1 putative rna NULL NULL 0.011 - - - no_errors GALNT16 HGNC ENSG00000100626 14 0 0 4 6 60 GALNT16 0 genome.wustl.edu 37 14 69791495 69791495 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 69791495 69791495 G A SNP GALNT16 ENST00000337827 human ensembl 74_37 +1 known missense c.422 p.R141H 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 GALNT16 HGNC ENSG00000100626 40 0 0 27 14 34.1463 GALNT16 0 genome.wustl.edu 37 14 69795264 69795264 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 69795264 69795264 G A SNP GALNT16 ENST00000337827 human ensembl 74_37 +1 known silent c.666 p.P222 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 GALNT16 HGNC ENSG00000100626 34 0 0 23 7 23.3333 SLC39A9 0 genome.wustl.edu 37 14 69908873 69908873 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 69908873 69908873 G A SNP SLC39A9 ENST00000555840 human ensembl 74_37 +1 known missense c.293 p.S98N 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A9 HGNC ENSG00000029364 138 0 0 110 6 5.17241 SLC39A9 0 genome.wustl.edu 37 14 69925158 69925158 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 69925158 69925158 G A SNP SLC39A9 ENST00000555840 human ensembl 74_37 +1 known missense c.772 p.A258T 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A9 HGNC ENSG00000029364 93 0 0 91 7 7.14286 KIAA0247 0 genome.wustl.edu 37 14 70171413 70171413 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 70171413 70171413 C A SNP KIAA0247 ENST00000342745 human ensembl 74_37 +1 known missense c.412 p.L138M 1.000 NULL pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors KIAA0247 HGNC ENSG00000100647 46 0 0 30 13 30.2326 SMOC1 0 genome.wustl.edu 37 14 70496965 70496965 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 70496965 70496965 G A SNP SMOC1 ENST00000361956 human ensembl 74_37 +1 known missense c.1298 p.R433H 1.000 NULL pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SMOC1 HGNC ENSG00000198732 70 0 0 61 6 8.95522 SLC8A3 0 genome.wustl.edu 37 14 70634125 70634125 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 70634125 70634125 C T SNP SLC8A3 ENST00000381269 human ensembl 74_37 -1 known missense c.1015 p.A339T 1.000 tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A3 HGNC ENSG00000100678 64 0 0 64 14 17.9487 ADAM21P1 0 genome.wustl.edu 37 14 70712602 70712602 + RNA SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 70712602 70712602 A G SNP ADAM21P1 ENST00000530196 human ensembl 74_37 -1 known rna NULL NULL 0.439 - - - no_errors ADAM21P1 HGNC ENSG00000235812 86 0 0 63 7 10 ADAM21 0 genome.wustl.edu 37 14 70925992 70925992 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 70925992 70925992 T C SNP ADAM21 ENST00000267499 human ensembl 74_37 +1 known silent c.1776 p.G592 0.424 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 86 0 0 63 25 28.4091 MAP3K9 0 genome.wustl.edu 37 14 71199485 71199485 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 71199485 71199485 G A SNP MAP3K9 ENST00000555993 human ensembl 74_37 -1 known silent c.2643 p.V881 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,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K9 HGNC ENSG00000006432 58 0 0 21 18 46.1538 SIPA1L1 0 genome.wustl.edu 37 14 72137841 72137841 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 72137841 72137841 C A SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.2261 p.A754D 1.000 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 318 0 0 319 21 6.17647 SIPA1L1 0 genome.wustl.edu 37 14 72190523 72190523 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 72190523 72190523 G T SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.4431 p.Q1477H 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 192 0 0 151 25 14.2045 SIPA1L1 0 genome.wustl.edu 37 14 72191399 72191399 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 72191399 72191399 C T SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known silent c.4524 p.S1508 1.000 pfam_DUF3401 pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 67 0 0 47 21 30.8824 DPF3 0 genome.wustl.edu 37 14 73140989 73140989 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 73140989 73140989 C T SNP DPF3 ENST00000366353 human ensembl 74_37 -1 known missense c.995 p.R332Q 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DPF3 HGNC ENSG00000205683 25 0 0 14 3 17.6471 DPF3 0 genome.wustl.edu 37 14 73159844 73159844 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 73159844 73159844 C T SNP DPF3 ENST00000366353 human ensembl 74_37 -1 known missense c.847 p.D283N 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DPF3 HGNC ENSG00000205683 109 0 0 63 28 30.7692 HEATR4 0 genome.wustl.edu 37 14 73989372 73989372 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 73989372 73989372 C T SNP HEATR4 ENST00000334988 human ensembl 74_37 -1 known missense c.485 p.R162H 0.000 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC ENSG00000187105 55 0 0 33 15 31.25 ELMSAN1 0 genome.wustl.edu 37 14 74186094 74186094 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 74186094 74186094 T C SNP ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known silent c.3048 p.L1016 0.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 24 0 0 19 7 26.9231 FAM161B 0 genome.wustl.edu 37 14 74407705 74407705 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 74407705 74407705 C T SNP FAM161B ENST00000286544 human ensembl 74_37 -1 known missense c.1513 p.G505S 1.000 pfam_UPF0564 pfam_UPF0564 - no_errors FAM161B HGNC ENSG00000156050 122 0 0 69 31 31 ENSG00000258559 0 genome.wustl.edu 37 14 74760048 74760048 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 74760048 74760048 G A SNP ENSG00000258559 ENST00000554532 human ensembl 74_37 -1 known rna NULL NULL 0.137 - - - no_errors AC005519.4 Clone_based_vega_gene ENSG00000258559 17 0 0 5 6 54.5455 ABCD4 0 genome.wustl.edu 37 14 74763144 74763144 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 74763144 74763144 C T SNP ABCD4 ENST00000356924 human ensembl 74_37 -1 known missense c.434 p.R145H 1.000 pfam_ABC_Peroxi_TM,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom 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 - no_errors ABCD4 HGNC ENSG00000119688 52 0 0 45 13 22.4138 LTBP2 0 genome.wustl.edu 37 14 74971792 74971792 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 74971792 74971792 C T SNP LTBP2 ENST00000261978 human ensembl 74_37 -1 known silent c.4263 p.A1421 0.000 superfamily_TB_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 37 0 0 27 8 22.8571 LTBP2 0 genome.wustl.edu 37 14 74973512 74973512 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 74973512 74973512 C T SNP LTBP2 ENST00000261978 human ensembl 74_37 -1 known missense c.3922 p.A1308T 0.997 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 34 0 0 20 7 25.9259 YLPM1 0 genome.wustl.edu 37 14 75265781 75265781 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 75265781 75265781 C T SNP YLPM1 ENST00000325680 human ensembl 74_37 +1 known nonsense c.3781 p.R1261* 1.000 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 55 0 0 37 14 27.451 BATF 0 genome.wustl.edu 37 14 76012964 76012964 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 76012964 76012964 G A SNP BATF ENST00000286639 human ensembl 74_37 +1 known missense c.328 p.A110T 0.017 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors BATF HGNC ENSG00000156127 18 0 0 8 3 27.2727 TTLL5 0 genome.wustl.edu 37 14 76135826 76135826 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 76135826 76135826 G A SNP TTLL5 ENST00000298832 human ensembl 74_37 +1 known missense c.142 p.A48T 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL5 HGNC ENSG00000119685 140 0 0 81 28 25.6881 IFT43 0 genome.wustl.edu 37 14 76542994 76542994 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 76542994 76542994 G A SNP IFT43 ENST00000238628 human ensembl 74_37 +1 known silent c.270 p.T90 0.000 NULL NULL - no_errors IFT43 HGNC ENSG00000119650 63 0 0 45 17 27.4194 ANGEL1 0 genome.wustl.edu 37 14 77255579 77255579 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 77255579 77255579 C T SNP ANGEL1 ENST00000251089 human ensembl 74_37 -1 known missense c.2005 p.A669T 0.997 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors ANGEL1 HGNC ENSG00000013523 157 0 0 147 10 6.36943 VIPAS39 0 genome.wustl.edu 37 14 77910662 77910662 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 77910662 77910662 C T SNP VIPAS39 ENST00000343765 human ensembl 74_37 -1 known missense c.527 p.R176H 1.000 pfam_Golgin_subfamily_A_member_5 pfam_Golgin_subfamily_A_member_5 - no_errors VIPAS39 HGNC ENSG00000151445 62 0 0 48 5 9.43396 ALKBH1 0 genome.wustl.edu 37 14 78146264 78146264 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 78146264 78146264 G A SNP ALKBH1 ENST00000216489 human ensembl 74_37 -1 known missense c.505 p.R169C 1.000 tigrfam_Alkb tigrfam_Alkb - no_errors ALKBH1 HGNC ENSG00000100601 98 0 0 74 8 9.7561 ADCK1 0 genome.wustl.edu 37 14 78397931 78397931 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 78397931 78397931 G A SNP ADCK1 ENST00000238561 human ensembl 74_37 +1 known missense c.1277 p.R426H 1.000 NULL pfam_UbiB_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom - no_errors ADCK1 HGNC ENSG00000063761 36 0 0 30 11 26.8293 CEP128 0 genome.wustl.edu 37 14 81329141 81329141 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 81329141 81329141 C T SNP CEP128 ENST00000281129 human ensembl 74_37 -1 known missense c.722 p.R241H 0.894 NULL NULL - no_errors CEP128 HGNC ENSG00000100629 103 0 0 83 23 21.6981 TSHR 0 genome.wustl.edu 37 14 81422084 81422084 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 81422084 81422084 C T SNP TSHR ENST00000298171 human ensembl 74_37 +1 known silent c.60 p.G20 0.000 prints_TSH_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_TSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt - no_errors TSHR HGNC ENSG00000165409 114 0 0 73 5 6.41026 SEL1L 0 genome.wustl.edu 37 14 81952724 81952724 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 81952724 81952724 G A SNP SEL1L ENST00000336735 human ensembl 74_37 -1 known silent c.1707 p.G569 0.000 NULL pfam_Sel1-like,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_Sel1-like,pfscan_FN_type2_col-bd - no_errors SEL1L HGNC ENSG00000071537 273 0 0 250 17 6.36704 FLRT2 0 genome.wustl.edu 37 14 86089506 86089506 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 86089506 86089506 G A SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known missense c.1648 p.A550T 0.997 NULL pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 85 0 0 48 31 39.2405 GALC 0 genome.wustl.edu 37 14 88401080 88401080 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 88401080 88401080 C T SNP GALC ENST00000261304 human ensembl 74_37 -1 known missense c.2054 p.R685H 0.000 pfam_Glyco_hydro_59 pfam_Glyco_hydro_59,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_59 - no_errors GALC HGNC ENSG00000054983 104 0 0 70 11 13.5802 GALC 0 genome.wustl.edu 37 14 88434718 88434718 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 88434718 88434718 C T SNP GALC ENST00000261304 human ensembl 74_37 -1 known missense c.869 p.R290H 1.000 pfam_Glyco_hydro_59,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_59 pfam_Glyco_hydro_59,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_59 - no_errors GALC HGNC ENSG00000054983 146 1 0.680272 103 25 19.5312 FOXN3 0 genome.wustl.edu 37 14 89647121 89647121 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 89647121 89647121 G A SNP FOXN3 ENST00000261302 human ensembl 74_37 -1 known missense c.841 p.R281W 0.964 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN3 HGNC ENSG00000053254 10 0 0 11 5 31.25 NRDE2 0 genome.wustl.edu 37 14 90755095 90755095 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 90755095 90755095 C T SNP NRDE2 ENST00000354366 human ensembl 74_37 -1 known missense c.2624 p.R875Q 1.000 NULL pfam_NRDE-2 - no_errors NRDE2 HGNC ENSG00000119720 67 0 0 57 13 18.5714 NRDE2 0 genome.wustl.edu 37 14 90769464 90769464 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 90769464 90769464 C A SNP NRDE2 ENST00000354366 human ensembl 74_37 -1 known missense c.1011 p.E337D 1.000 pfam_NRDE-2 pfam_NRDE-2 - no_errors NRDE2 HGNC ENSG00000119720 60 0 0 46 12 20.6897 NRDE2 0 genome.wustl.edu 37 14 90784357 90784357 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 90784357 90784357 C T SNP NRDE2 ENST00000354366 human ensembl 74_37 -1 known silent c.165 p.P55 0.000 NULL pfam_NRDE-2 - no_errors NRDE2 HGNC ENSG00000119720 111 0 0 84 11 11.5789 CATSPERB 0 genome.wustl.edu 37 14 92076988 92076988 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 92076988 92076988 C T SNP CATSPERB ENST00000256343 human ensembl 74_37 -1 known missense c.2434 p.A812T 0.454 NULL superfamily_Sialidases - no_errors CATSPERB HGNC ENSG00000133962 68 0 0 44 13 22.807 RIN3 0 genome.wustl.edu 37 14 93125612 93125612 + Missense_Mutation SNP G G C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 93125612 93125612 G C SNP RIN3 ENST00000216487 human ensembl 74_37 +1 known missense c.2133 p.Q711H 1.000 pfscan_VPS9 pfam_VPS9,smart_SH2,smart_VPS9_subgr,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN3 HGNC ENSG00000100599 170 0 0 167 14 7.73481 RIN3 0 genome.wustl.edu 37 14 93125643 93125643 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 93125643 93125643 A G SNP RIN3 ENST00000216487 human ensembl 74_37 +1 known missense c.2164 p.T722A 1.000 pfscan_VPS9 pfam_VPS9,smart_SH2,smart_VPS9_subgr,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN3 HGNC ENSG00000100599 123 1 0.806452 103 31 23.1343 UNC79 0 genome.wustl.edu 37 14 94088106 94088106 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 94088106 94088106 G A SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known silent c.4593 p.S1531 1.000 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 102 0 0 94 12 11.3208 UNC79 0 genome.wustl.edu 37 14 94103626 94103626 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 94103626 94103626 A G SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known silent c.5964 p.G1988 0.995 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 59 0 0 60 4 6.25 UNC79 0 genome.wustl.edu 37 14 94120164 94120164 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 94120164 94120164 G A SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.6343 p.G2115S 1.000 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 174 0 0 122 40 24.6914 FAM181A 0 genome.wustl.edu 37 14 94394715 94394715 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 94394715 94394715 C T SNP FAM181A ENST00000267594 human ensembl 74_37 +1 known silent c.270 p.S90 0.000 NULL NULL - no_errors FAM181A HGNC ENSG00000140067 23 0 0 20 5 20 ASB2 0 genome.wustl.edu 37 14 94405768 94405768 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 94405768 94405768 C T SNP ASB2 ENST00000315988 human ensembl 74_37 -1 known missense c.1159 p.A387T 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB2 HGNC ENSG00000100628 14 0 0 8 7 46.6667 ASB2 0 genome.wustl.edu 37 14 94417565 94417565 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 94417565 94417565 G A SNP ASB2 ENST00000315988 human ensembl 74_37 -1 known silent c.516 p.A172 0.011 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB2 HGNC ENSG00000100628 56 0 0 45 5 10 DDX24 0 genome.wustl.edu 37 14 94528700 94528700 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 94528700 94528700 G A SNP DDX24 ENST00000330836 human ensembl 74_37 -1 known missense c.986 p.A329V 0.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,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 DDX24 HGNC ENSG00000089737 168 0 0 104 43 29.2517 SERPINA11 0 genome.wustl.edu 37 14 94914995 94914995 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 94914995 94914995 C T SNP SERPINA11 ENST00000334708 human ensembl 74_37 -1 known silent c.117 p.Q39 0.001 superfamily_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA11 HGNC ENSG00000186910 124 0 0 108 6 5.26316 SERPINA12 0 genome.wustl.edu 37 14 94964324 94964324 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 94964324 94964324 C T SNP SERPINA12 ENST00000341228 human ensembl 74_37 -1 known silent c.411 p.T137 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA12 HGNC ENSG00000165953 101 0 0 71 16 18.3908 CLMN 0 genome.wustl.edu 37 14 95682030 95682030 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 95682030 95682030 C T SNP CLMN ENST00000298912 human ensembl 74_37 -1 known missense c.365 p.G122D 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors CLMN HGNC ENSG00000165959 89 0 0 65 5 7.14286 SYNE3 0 genome.wustl.edu 37 14 95922035 95922035 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 95922035 95922035 G A SNP SYNE3 ENST00000334258 human ensembl 74_37 -1 known silent c.816 p.G272 0.001 smart_Spectrin/alpha-actinin pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC ENSG00000176438 99 0 0 89 8 8.24742 BDKRB2 0 genome.wustl.edu 37 14 96707401 96707401 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 96707401 96707401 C T SNP BDKRB2 ENST00000306005 human ensembl 74_37 +1 known nonsense c.736 p.Q246* 0.013 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Brdyknn_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Brdyknn_2_rcpt,prints_GPCR_Rhodpsn,prints_Brdyknn_rcpt,prints_ATII_rcpt - no_errors BDKRB2 HGNC ENSG00000168398 41 0 0 37 7 15.9091 BDKRB1 0 genome.wustl.edu 37 14 96730746 96730746 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 96730746 96730746 C T SNP BDKRB1 ENST00000216629 human ensembl 74_37 +1 known missense c.727 p.R243C 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Brdyknn_1_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Brdyknn_1_rcpt,prints_GPCR_Rhodpsn,prints_Brdyknn_rcpt - no_errors BDKRB1 HGNC ENSG00000100739 51 0 0 35 6 14.6341 ATG2B 0 genome.wustl.edu 37 14 96756089 96756089 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 96756089 96756089 C T SNP ATG2B ENST00000359933 human ensembl 74_37 -1 known silent c.5910 p.E1970 0.998 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 83 0 0 73 12 14.1176 SETD3 0 genome.wustl.edu 37 14 99865307 99865307 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 99865307 99865307 C T SNP SETD3 ENST00000331768 human ensembl 74_37 -1 known silent c.1494 p.P498 0.430 superfamily_Rubisco_LSMT_subst-bd pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,superfamily_Rubisco_LSMT_subst-bd - no_errors SETD3 HGNC ENSG00000183576 160 0 0 121 7 5.46875 SETD3 0 genome.wustl.edu 37 14 99932082 99932082 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 99932082 99932082 A G SNP SETD3 ENST00000331768 human ensembl 74_37 -1 known missense c.61 p.S21P 1.000 NULL pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,superfamily_Rubisco_LSMT_subst-bd - no_errors SETD3 HGNC ENSG00000183576 58 0 0 56 7 11.1111 LRRK1 0 genome.wustl.edu 37 15 101567506 101567506 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 101567506 101567506 C T SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known nonsense c.2446 p.R816* 1.000 superfamily_P-loop_NTPase pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors LRRK1 HGNC ENSG00000154237 44 0 0 29 21 42 WASH3P 0 genome.wustl.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 102515299 102515299 G A SNP WASH3P ENST00000557932 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors WASH3P HGNC ENSG00000185596 16 0 0 15 4 21.0526 CHEK2P2 0 genome.wustl.edu 37 15 20496632 20496632 + RNA SNP A A C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 20496632 20496632 A C SNP CHEK2P2 ENST00000555186 human ensembl 74_37 +1 known rna NULL NULL 0.365 - - - no_errors CHEK2P2 HGNC ENSG00000259156 93 0 0 62 5 7.46269 OR4N4 0 genome.wustl.edu 37 15 22383015 22383015 + Silent SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 22383015 22383015 C A SNP OR4N4 ENST00000328795 human ensembl 74_37 +1 known silent c.543 p.V181 0.234 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 OR4N4 HGNC ENSG00000183706 142 0 0 100 16 13.7931 CYFIP1 0 genome.wustl.edu 37 15 22945147 22945147 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 22945147 22945147 G A SNP CYFIP1 ENST00000313077 human ensembl 74_37 +1 known silent c.1218 p.A406 0.003 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 14 0 0 11 7 38.8889 CYFIP1 0 genome.wustl.edu 37 15 22997826 22997826 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 22997826 22997826 C T SNP CYFIP1 ENST00000313077 human ensembl 74_37 +1 known silent c.3072 p.H1024 0.265 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 196 1 0.507614 186 14 7 HERC2P2 0 genome.wustl.edu 37 15 23285440 23285440 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 23285440 23285440 G A SNP HERC2P2 ENST00000558398 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors HERC2P2 HGNC ENSG00000140181 19 0 0 15 5 25 HERC2P2 0 genome.wustl.edu 37 15 23300044 23300044 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 23300044 23300044 G A SNP HERC2P2 ENST00000560464 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P2 HGNC ENSG00000140181 24 0 0 11 3 21.4286 GOLGA6L2 0 genome.wustl.edu 37 15 23687625 23687625 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 23687625 23687625 C T SNP GOLGA6L2 ENST00000312015 human ensembl 74_37 -1 known missense c.622 p.A208T 0.000 NULL prints_Tropomyosin - no_errors GOLGA6L2 HGNC ENSG00000174450 50 0 0 32 5 13.5135 MKRN3 0 genome.wustl.edu 37 15 23812066 23812066 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 23812066 23812066 G T SNP MKRN3 ENST00000314520 human ensembl 74_37 +1 known missense c.1137 p.E379D 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 98 0 0 88 9 9.27835 NDN 0 genome.wustl.edu 37 15 23931741 23931741 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 23931741 23931741 G A SNP NDN ENST00000331837 human ensembl 74_37 -1 known silent c.624 p.S208 0.731 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors NDN HGNC ENSG00000182636 31 0 0 17 4 19.0476 NPAP1 0 genome.wustl.edu 37 15 24922492 24922492 + Missense_Mutation SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 24922492 24922492 T A SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.1478 p.L493H 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 291 0 0 169 66 28.0851 SNORD116-8 0 genome.wustl.edu 37 15 25315649 25315649 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 25315649 25315649 G A SNP SNORD116-8 ENST00000384365 human ensembl 74_37 +1 known rna NULL NULL 0.143 - - - no_errors SNORD116-8 HGNC ENSG00000207093 157 0 0 100 43 30.0699 SNORD116-9 0 genome.wustl.edu 37 15 25318322 25318322 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 25318322 25318322 C T SNP SNORD116-9 ENST00000384000 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNORD116-9 HGNC ENSG00000206727 198 1 0.502513 148 11 6.91824 ATP10A 0 genome.wustl.edu 37 15 25932965 25932965 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 25932965 25932965 G A SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.3176 p.A1059V 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 173 0 0 130 7 5.10949 HERC2 0 genome.wustl.edu 37 15 28366571 28366571 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 28366571 28366571 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.13193 p.A4398V 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 56 0 0 28 16 36.3636 HERC2 0 genome.wustl.edu 37 15 28389918 28389918 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 28389918 28389918 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.11041 p.R3681C 1.000 superfamily_CUB_dom 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 35 0 0 27 4 12.9032 HERC2 0 genome.wustl.edu 37 15 28447611 28447611 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 28447611 28447611 C T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known silent c.7362 p.S2454 0.029 superfamily_UBA-like 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 8 0 0 6 4 40 HERC2 0 genome.wustl.edu 37 15 28501354 28501354 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 28501354 28501354 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.2627 p.A876V 0.986 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 23 0 0 18 7 28 APBA2 0 genome.wustl.edu 37 15 29397673 29397673 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 29397673 29397673 G A SNP APBA2 ENST00000558259 human ensembl 74_37 +1 known missense c.1616 p.S539N 1.000 superfamily_PDZ,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA2 HGNC ENSG00000034053 66 0 0 31 6 16.2162 MTMR10 0 genome.wustl.edu 37 15 31253201 31253201 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 31253201 31253201 C T SNP MTMR10 ENST00000435680 human ensembl 74_37 -1 known missense c.641 p.S214N 0.014 NULL pfam_Myotubularin_assoc,pfam_Myotubularin-like_Pase_dom - no_errors MTMR10 HGNC ENSG00000166912 20 0 0 12 3 20 TRPM1 0 genome.wustl.edu 37 15 31362319 31362319 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 31362319 31362319 G T SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known missense c.245 p.S82Y 0.702 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 471 0 0 417 29 6.50224 RYR3 0 genome.wustl.edu 37 15 34072492 34072492 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 34072492 34072492 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.9218 p.R3073H 0.564 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 42 0 0 35 8 18.6047 RYR3 0 genome.wustl.edu 37 15 34130165 34130165 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 34130165 34130165 C T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.11984 p.A3995V 1.000 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 166 0 0 157 14 8.18713 RYR3 0 genome.wustl.edu 37 15 34134153 34134153 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 34134153 34134153 C T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.13126 p.R4376W 0.018 pfam_Ryanrecept_TM4-6,superfamily_4_helix_cytokine-like_core 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 15 0 0 23 6 20.6897 EMC7 0 genome.wustl.edu 37 15 34393956 34393956 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 34393956 34393956 C T SNP EMC7 ENST00000256545 human ensembl 74_37 -1 known missense c.85 p.A29T 0.925 NULL pfam_DUF2012,superfamily_Carb-bd-like_fold - no_errors EMC7 HGNC ENSG00000134153 95 0 0 62 25 28.7356 ZNF770 0 genome.wustl.edu 37 15 35274899 35274899 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 35274899 35274899 G A SNP ZNF770 ENST00000356321 human ensembl 74_37 -1 known missense c.737 p.A246V 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC ENSG00000198146 51 0 0 40 17 29.8246 MEIS2 0 genome.wustl.edu 37 15 37184485 37184485 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 37184485 37184485 G A SNP MEIS2 ENST00000561208 human ensembl 74_37 -1 known silent c.1323 p.H441 1.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MEIS2 HGNC ENSG00000134138 315 0 0 273 15 5.20833 RASGRP1 0 genome.wustl.edu 37 15 38800067 38800067 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 38800067 38800067 C A SNP RASGRP1 ENST00000310803 human ensembl 74_37 -1 known missense c.1102 p.A368S 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP1 HGNC ENSG00000172575 44 0 0 23 15 39.4737 C15orf53 0 genome.wustl.edu 37 15 38990598 38990598 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 38990598 38990598 G A SNP C15orf53 ENST00000318792 human ensembl 74_37 +1 known missense c.392 p.R131H 0.000 NULL NULL - no_errors C15orf53 HGNC ENSG00000175779 50 0 0 31 8 20.5128 THBS1 0 genome.wustl.edu 37 15 39885659 39885659 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 39885659 39885659 C T SNP THBS1 ENST00000260356 human ensembl 74_37 +1 known silent c.3057 p.D1019 0.999 pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,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 209 0 0 175 18 9.32642 GPR176 0 genome.wustl.edu 37 15 40094085 40094085 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 40094085 40094085 C T SNP GPR176 ENST00000561100 human ensembl 74_37 -1 known missense c.796 p.A266T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR176 HGNC ENSG00000166073 55 0 0 36 15 29.4118 PLCB2 0 genome.wustl.edu 37 15 40585208 40585208 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 40585208 40585208 C T SNP PLCB2 ENST00000260402 human ensembl 74_37 -1 known missense c.2245 p.A749T 1.000 pirsf_PLC-beta,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,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_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB2 HGNC ENSG00000137841 100 0 0 57 21 26.9231 PLCB2 0 genome.wustl.edu 37 15 40591154 40591154 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 40591154 40591154 G A SNP PLCB2 ENST00000260402 human ensembl 74_37 -1 known missense c.695 p.A232V 1.000 pirsf_PLC-beta,pfam_PLipase_C_EF-hand-like pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,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_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB2 HGNC ENSG00000137841 131 0 0 84 8 8.69565 INO80 0 genome.wustl.edu 37 15 41276493 41276493 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 41276493 41276493 T C SNP INO80 ENST00000361937 human ensembl 74_37 -1 known missense c.3979 p.I1327V 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors INO80 HGNC ENSG00000128908 67 0 0 40 11 21.5686 RPAP1 0 genome.wustl.edu 37 15 41829150 41829150 + Missense_Mutation SNP C C G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 41829150 41829150 C G SNP RPAP1 ENST00000304330 human ensembl 74_37 -1 known missense c.174 p.M58I 0.174 NULL pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC ENSG00000103932 154 0 0 122 10 7.57576 MGA 0 genome.wustl.edu 37 15 41961288 41961288 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 41961288 41961288 C T SNP MGA ENST00000219905 human ensembl 74_37 +1 known missense c.196 p.L66F 1.000 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 129 0 0 85 34 28.5714 MAPKBP1 0 genome.wustl.edu 37 15 42105237 42105237 + Missense_Mutation SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 42105237 42105237 T A SNP MAPKBP1 ENST00000456763 human ensembl 74_37 +1 known missense c.757 p.S253T 0.988 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MAPKBP1 HGNC ENSG00000137802 125 0 0 123 7 5.38462 JMJD7-PLA2G4B 0 genome.wustl.edu 37 15 42132384 42132384 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 42132384 42132384 C T SNP JMJD7-PLA2G4B ENST00000382448 human ensembl 74_37 +1 known missense c.731 p.T244M 0.835 pfam_C2_dom,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,pfscan_JmjC_dom,pfscan_C2_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors JMJD7-PLA2G4B HGNC ENSG00000168970 33 0 0 23 7 23.3333 PLA2G4F 0 genome.wustl.edu 37 15 42436328 42436328 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 42436328 42436328 C T SNP PLA2G4F ENST00000397272 human ensembl 74_37 -1 known missense c.1996 p.A666T 0.033 superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4F HGNC ENSG00000168907 70 0 0 39 10 20.4082 TGM5 0 genome.wustl.edu 37 15 43552444 43552444 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 43552444 43552444 C T SNP TGM5 ENST00000220420 human ensembl 74_37 -1 known missense c.242 p.R81H 0.000 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM5 HGNC ENSG00000104055 25 0 0 22 5 18.5185 TUBGCP4 0 genome.wustl.edu 37 15 43696001 43696001 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 43696001 43696001 C T SNP TUBGCP4 ENST00000566251 human ensembl 74_37 +1 known missense c.154 p.R52C 0.981 NULL NULL - no_errors TUBGCP4 HGNC ENSG00000137822 29 0 0 19 11 36.6667 PPIP5K1 0 genome.wustl.edu 37 15 43826900 43826900 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 43826900 43826900 G A SNP PPIP5K1 ENST00000420765 human ensembl 74_37 -1 known missense c.4274 p.A1425V 0.051 NULL pfam_His_Pase_superF_clade-2,superfamily_Cys_alpha_HP_mot_SF - no_errors PPIP5K1 HGNC ENSG00000168781 162 0 0 161 10 5.84795 CATSPER2 0 genome.wustl.edu 37 15 43924939 43924939 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 43924939 43924939 C T SNP CATSPER2 ENST00000321596 human ensembl 74_37 -1 known missense c.1372 p.E458K 0.001 NULL pfam_Ion_trans_dom - no_errors CATSPER2 HGNC ENSG00000166762 73 0 0 51 23 31.0811 WDR76 0 genome.wustl.edu 37 15 44120406 44120406 + Missense_Mutation SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 44120406 44120406 T A SNP WDR76 ENST00000263795 human ensembl 74_37 +1 known missense c.304 p.S102T 0.259 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR76 HGNC ENSG00000092470 118 0 0 77 40 34.188 DUOX2 0 genome.wustl.edu 37 15 45391910 45391910 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 45391910 45391910 G A SNP DUOX2 ENST00000389039 human ensembl 74_37 -1 known missense c.3365 p.A1122V 0.998 pfam_Fe3_Rdtase_TM_dom pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 96 0 0 53 22 29.3333 SLC30A4 0 genome.wustl.edu 37 15 45777398 45777398 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 45777398 45777398 T C SNP SLC30A4 ENST00000261867 human ensembl 74_37 -1 known missense c.1253 p.D418G 0.008 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A4 HGNC ENSG00000104154 41 0 0 31 12 27.907 SEMA6D 0 genome.wustl.edu 37 15 48052028 48052028 + Silent SNP G G C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 48052028 48052028 G C SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known silent c.33 p.L11 0.998 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 SEMA6D HGNC ENSG00000137872 59 0 0 54 3 5.26316 SEMA6D 0 genome.wustl.edu 37 15 48054484 48054484 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 48054484 48054484 G A SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known missense c.626 p.R209H 0.999 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6D HGNC ENSG00000137872 84 0 0 65 5 7.14286 SLC12A1 0 genome.wustl.edu 37 15 48518712 48518712 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 48518712 48518712 C A SNP SLC12A1 ENST00000380993 human ensembl 74_37 +1 known missense c.668 p.T223N 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A1 HGNC ENSG00000074803 61 0 0 47 17 26.5625 FBN1 0 genome.wustl.edu 37 15 48791196 48791196 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 48791196 48791196 G A SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.2153 p.T718M 0.998 superfamily_TB_dom,pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 165 0 0 151 11 6.79012 FBN1 0 genome.wustl.edu 37 15 48936939 48936939 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 48936939 48936939 C T SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.28 p.A10T 0.845 pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 52 0 0 28 9 24.3243 SECISBP2L 0 genome.wustl.edu 37 15 49304895 49304895 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 49304895 49304895 C T SNP SECISBP2L ENST00000559471 human ensembl 74_37 -1 known missense c.1681 p.G561R 1.000 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2L HGNC ENSG00000138593 142 0 0 96 32 25 FAM227B 0 genome.wustl.edu 37 15 49903459 49903459 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 49903459 49903459 G A SNP FAM227B ENST00000299338 human ensembl 74_37 -1 known nonsense c.58 p.Q20* 0.010 NULL NULL - no_errors FAM227B HGNC ENSG00000166262 43 0 0 35 13 27.0833 DTWD1 0 genome.wustl.edu 37 15 49924402 49924402 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 49924402 49924402 G A SNP DTWD1 ENST00000251250 human ensembl 74_37 +1 known missense c.311 p.G104D 1.000 pfam_DTW pfam_DTW - no_errors DTWD1 HGNC ENSG00000104047 72 0 0 49 9 15.5172 SLC27A2 0 genome.wustl.edu 37 15 50494717 50494717 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 50494717 50494717 G A SNP SLC27A2 ENST00000267842 human ensembl 74_37 +1 known missense c.722 p.R241H 0.964 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A2 HGNC ENSG00000140284 131 1 0.757576 79 33 29.4643 MAPK6 0 genome.wustl.edu 37 15 52356133 52356133 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 52356133 52356133 C T SNP MAPK6 ENST00000261845 human ensembl 74_37 +1 known missense c.1102 p.P368S 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK3/4 - no_errors MAPK6 HGNC ENSG00000069956 88 0 0 81 7 7.95455 BCL2L10 0 genome.wustl.edu 37 15 52402115 52402115 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 52402115 52402115 T C SNP BCL2L10 ENST00000260442 human ensembl 74_37 -1 known missense c.545 p.Q182R 0.001 NULL pfam_Blc2_fam,pfscan_Bcl2-like - no_errors BCL2L10 HGNC ENSG00000137875 170 0 0 135 11 7.53425 MYO5C 0 genome.wustl.edu 37 15 52497304 52497304 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 52497304 52497304 G A SNP MYO5C ENST00000261839 human ensembl 74_37 -1 known silent c.4578 p.S1526 0.220 pfscan_Dilute pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5C HGNC ENSG00000128833 98 0 0 50 17 25.3731 MYO5C 0 genome.wustl.edu 37 15 52571811 52571811 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 52571811 52571811 C T SNP MYO5C ENST00000261839 human ensembl 74_37 -1 known missense c.199 p.V67M 1.000 superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5C HGNC ENSG00000128833 47 0 0 30 17 36.1702 DYX1C1 0 genome.wustl.edu 37 15 55724799 55724799 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 55724799 55724799 G A SNP DYX1C1 ENST00000321149 human ensembl 74_37 -1 known missense c.1049 p.A350V 1.000 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_CS_dom,superfamily_HSP20-like_chaperone,smart_TPR_repeat,pfscan_CS_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors DYX1C1 HGNC ENSG00000256061 43 0 0 40 14 25.9259 PRTG 0 genome.wustl.edu 37 15 55965785 55965785 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 55965785 55965785 G A SNP PRTG ENST00000389286 human ensembl 74_37 -1 known missense c.1636 p.R546W 0.990 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 PRTG HGNC ENSG00000166450 134 0 0 101 36 26.2774 RFX7 0 genome.wustl.edu 37 15 56386815 56386815 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 56386815 56386815 G A SNP RFX7 ENST00000423270 human ensembl 74_37 -1 known silent c.3111 p.D1037 0.997 NULL pfam_DNA-bd_RFX - no_errors RFX7 HGNC ENSG00000181827 100 0 0 63 32 33.6842 GCOM1 0 genome.wustl.edu 37 15 57913876 57913876 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 57913876 57913876 G A SNP GCOM1 ENST00000380569 human ensembl 74_37 +1 known missense c.389 p.R130Q 0.461 NULL NULL - no_errors GCOM1 HGNC ENSG00000137878 119 0 0 90 29 24.3697 GCOM1 0 genome.wustl.edu 37 15 57929897 57929897 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 57929897 57929897 G A SNP GCOM1 ENST00000380569 human ensembl 74_37 +1 known missense c.938 p.R313H 1.000 NULL NULL - no_errors GCOM1 HGNC ENSG00000137878 27 0 0 33 5 13.1579 ALDH1A2 0 genome.wustl.edu 37 15 58357819 58357819 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 58357819 58357819 G A SNP ALDH1A2 ENST00000249750 human ensembl 74_37 -1 known silent c.30 p.G10 0.998 NULL pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A2 HGNC ENSG00000128918 12 0 0 4 4 50 RNF111 0 genome.wustl.edu 37 15 59323599 59323599 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 59323599 59323599 C T SNP RNF111 ENST00000434298 human ensembl 74_37 +1 known missense c.578 p.S193L 0.441 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF111 HGNC ENSG00000157450 143 1 0.694444 99 41 29.2857 LDHAL6B 0 genome.wustl.edu 37 15 59499582 59499582 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 59499582 59499582 G A SNP LDHAL6B ENST00000307144 human ensembl 74_37 +1 known missense c.443 p.R148H 1.000 pfam_Lactate/malate_DH_N,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHAL6B HGNC ENSG00000171989 184 0 0 128 39 23.3533 TLN2 0 genome.wustl.edu 37 15 63009877 63009877 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 63009877 63009877 C T SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known nonsense c.2866 p.Q956* 1.000 NULL pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 18 0 0 9 6 40 TLN2 0 genome.wustl.edu 37 15 63019352 63019352 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 63019352 63019352 C T SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known silent c.3322 p.L1108 1.000 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 41 0 0 35 12 25.5319 TLN2 0 genome.wustl.edu 37 15 63092928 63092928 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 63092928 63092928 C T SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known missense c.6437 p.A2146V 1.000 NULL pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 24 0 0 12 5 29.4118 HERC1 0 genome.wustl.edu 37 15 63943555 63943555 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 63943555 63943555 C T SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known silent c.10443 p.L3481 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom 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 115 0 0 79 29 26.8519 PIF1 0 genome.wustl.edu 37 15 65114700 65114700 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 65114700 65114700 C T SNP PIF1 ENST00000333425 human ensembl 74_37 -1 known missense c.668 p.S223N 0.991 superfamily_P-loop_NTPase pfam_DNA_helicase_Pif1,pfam_DNA_helicase,superfamily_P-loop_NTPase - no_errors PIF1 HGNC ENSG00000140451 39 0 0 33 7 17.5 VWA9 0 genome.wustl.edu 37 15 65892135 65892135 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 65892135 65892135 T C SNP VWA9 ENST00000567744 human ensembl 74_37 -1 known missense c.571 p.M191V 1.000 NULL NULL - no_errors VWA9 HGNC ENSG00000138614 91 0 0 64 31 32.6316 MEGF11 0 genome.wustl.edu 37 15 66416298 66416298 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 66416298 66416298 C T SNP MEGF11 ENST00000409699 human ensembl 74_37 -1 known missense c.139 p.D47N 1.000 pfscan_EMI_domain pfam_EGF_laminin,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_EMI_domain - no_errors MEGF11 HGNC ENSG00000157890 91 0 0 65 19 22.619 LCTL 0 genome.wustl.edu 37 15 66844070 66844070 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 66844070 66844070 C T SNP LCTL ENST00000341509 human ensembl 74_37 -1 known missense c.1454 p.R485H 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCTL HGNC ENSG00000188501 131 0 0 98 30 23.4375 CLN6 0 genome.wustl.edu 37 15 68500592 68500592 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 68500592 68500592 C T SNP CLN6 ENST00000249806 human ensembl 74_37 -1 known silent c.822 p.A274 0.000 NULL NULL - no_errors CLN6 HGNC ENSG00000128973 100 0 0 50 20 28.5714 KIF23 0 genome.wustl.edu 37 15 69728955 69728955 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 69728955 69728955 C T SNP KIF23 ENST00000260363 human ensembl 74_37 +1 known silent c.1449 p.C483 0.407 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 KIF23 HGNC ENSG00000137807 85 0 0 53 17 24.2857 TLE3 0 genome.wustl.edu 37 15 70346947 70346947 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 70346947 70346947 C T SNP TLE3 ENST00000558939 human ensembl 74_37 -1 known silent c.1665 p.T555 0.963 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,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE3 HGNC ENSG00000140332 20 0 0 18 4 18.1818 THSD4 0 genome.wustl.edu 37 15 71433871 71433871 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 71433871 71433871 T C SNP THSD4 ENST00000261862 human ensembl 74_37 +1 known missense c.5 p.V2A 0.002 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors THSD4 HGNC ENSG00000187720 19 0 0 16 6 27.2727 THSD4 0 genome.wustl.edu 37 15 71549040 71549040 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 71549040 71549040 A G SNP THSD4 ENST00000261862 human ensembl 74_37 +1 known missense c.1001 p.E334G 1.000 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors THSD4 HGNC ENSG00000187720 128 0 0 89 30 25.2101 MYO9A 0 genome.wustl.edu 37 15 72119009 72119009 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 72119009 72119009 A G SNP MYO9A ENST00000424560 human ensembl 74_37 -1 known missense c.7772 p.V2591A 0.003 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 109 0 0 114 6 5 PKM 0 genome.wustl.edu 37 15 72494822 72494822 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 72494822 72494822 G A SNP PKM ENST00000335181 human ensembl 74_37 -1 known missense c.1280 p.A427V 1.000 pfam_Pyrv_Knase_C,superfamily_Pyrv_Knase_C,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 12 0 0 13 4 23.5294 PKM 0 genome.wustl.edu 37 15 72502791 72502791 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 72502791 72502791 C T SNP PKM ENST00000319622 human ensembl 74_37 -1 known missense c.275 p.R92H 1.000 pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase-like_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 91 0 0 61 13 17.5676 TMEM202 0 genome.wustl.edu 37 15 72691176 72691176 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 72691176 72691176 C T SNP TMEM202 ENST00000341689 human ensembl 74_37 +1 known silent c.264 p.G88 0.002 NULL NULL - no_errors TMEM202 HGNC ENSG00000187806 88 0 0 63 21 25 NEO1 0 genome.wustl.edu 37 15 73542042 73542042 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 73542042 73542042 C T SNP NEO1 ENST00000261908 human ensembl 74_37 +1 known missense c.1874 p.A625V 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NEO1 HGNC ENSG00000067141 126 0 0 106 37 25.8741 PML 0 genome.wustl.edu 37 15 74327751 74327751 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 74327751 74327751 C T SNP PML ENST00000268059 human ensembl 74_37 +1 known missense c.1949 p.A650V 0.002 NULL pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 55 0 0 30 6 16.6667 ISLR2 0 genome.wustl.edu 37 15 74426148 74426148 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 74426148 74426148 C T SNP ISLR2 ENST00000361742 human ensembl 74_37 +1 known silent c.1053 p.G351 0.021 pfscan_Ig-like_dom 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 16 0 0 8 3 27.2727 CLK3 0 genome.wustl.edu 37 15 74919715 74919715 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 74919715 74919715 C T SNP CLK3 ENST00000395066 human ensembl 74_37 +1 known silent c.1284 p.T428 0.712 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 CLK3 HGNC ENSG00000179335 299 1 0.333333 211 44 17.2549 SCAMP5 0 genome.wustl.edu 37 15 75311250 75311250 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 75311250 75311250 G A SNP SCAMP5 ENST00000562212 human ensembl 74_37 +1 known missense c.658 p.A220T 0.988 NULL pfam_SCAMP - no_errors SCAMP5 HGNC ENSG00000198794 53 0 0 29 16 35.5556 C15orf39 0 genome.wustl.edu 37 15 75499456 75499456 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 75499456 75499456 G A SNP C15orf39 ENST00000360639 human ensembl 74_37 +1 known missense c.1067 p.G356D 1.000 NULL NULL - no_errors C15orf39 HGNC ENSG00000167173 124 0 0 85 10 10.5263 GOLGA6C 0 genome.wustl.edu 37 15 75558555 75558555 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 75558555 75558555 G A SNP GOLGA6C ENST00000300576 human ensembl 74_37 +1 known silent c.957 p.Q319 0.998 NULL NULL - no_errors GOLGA6C HGNC ENSG00000167195 8 0 0 2 7 77.7778 SIN3A 0 genome.wustl.edu 37 15 75664419 75664419 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 75664419 75664419 G A SNP SIN3A ENST00000360439 human ensembl 74_37 -1 known silent c.3723 p.G1241 1.000 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3A HGNC ENSG00000169375 83 0 0 82 5 5.74713 SIN3A 0 genome.wustl.edu 37 15 75692389 75692389 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 75692389 75692389 G A SNP SIN3A ENST00000360439 human ensembl 74_37 -1 known missense c.1846 p.R616C 1.000 pfam_HDAC_interact,smart_HDAC_interact pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3A HGNC ENSG00000169375 165 0 0 101 47 31.7568 SNX33 0 genome.wustl.edu 37 15 75949483 75949483 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 75949483 75949483 G A SNP SNX33 ENST00000308527 human ensembl 74_37 +1 known missense c.1652 p.R551H 0.998 pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9 pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX33 HGNC ENSG00000173548 76 0 0 51 23 31.0811 CSPG4 0 genome.wustl.edu 37 15 75968093 75968093 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 75968093 75968093 T C SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known missense c.6767 p.D2256G 0.978 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 34 0 0 33 6 15.3846 CSPG4 0 genome.wustl.edu 37 15 75968836 75968836 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 75968836 75968836 G A SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known silent c.6024 p.G2008 0.008 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 87 0 0 66 6 8.33333 SCAPER 0 genome.wustl.edu 37 15 76696913 76696913 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 76696913 76696913 G A SNP SCAPER ENST00000324767 human ensembl 74_37 -1 known missense c.3419 p.A1140V 0.412 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 229 0 0 137 62 31.1558 ACSBG1 0 genome.wustl.edu 37 15 78466056 78466056 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 78466056 78466056 G A SNP ACSBG1 ENST00000258873 human ensembl 74_37 -1 known silent c.1968 p.A656 0.013 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSBG1 HGNC ENSG00000103740 73 0 0 49 12 19.6721 ACSBG1 0 genome.wustl.edu 37 15 78485913 78485913 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 78485913 78485913 C T SNP ACSBG1 ENST00000258873 human ensembl 74_37 -1 known missense c.598 p.A200T 0.869 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSBG1 HGNC ENSG00000103740 74 0 0 33 13 28.2609 DNAJA4 0 genome.wustl.edu 37 15 78566648 78566648 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 78566648 78566648 C T SNP DNAJA4 ENST00000394855 human ensembl 74_37 +1 known silent c.615 p.T205 0.168 pfam_HSP_DnaJ_Cys-rich_dom,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,pfscan_HSP_DnaJ_Cys-rich_dom pfam_DnaJ_domain,pfam_DnaJ_C,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain - no_errors DNAJA4 HGNC ENSG00000140403 40 0 0 18 4 18.1818 CRABP1 0 genome.wustl.edu 37 15 78635882 78635882 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 78635882 78635882 G A SNP CRABP1 ENST00000299529 human ensembl 74_37 +1 known silent c.291 p.T97 0.954 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors CRABP1 HGNC ENSG00000166426 83 0 0 50 6 10.7143 CTSH 0 genome.wustl.edu 37 15 79229690 79229690 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 79229690 79229690 C T SNP CTSH ENST00000220166 human ensembl 74_37 -1 known missense c.199 p.A67T 0.863 pfam_Prot_inhib_I29,smart_Prot_inhib_I29 pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSH HGNC ENSG00000103811 83 0 0 60 11 15.493 RASGRF1 0 genome.wustl.edu 37 15 79382811 79382811 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 79382811 79382811 G A SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known silent c.30 p.G10 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 99 0 0 78 17 17.8947 KIAA1024 0 genome.wustl.edu 37 15 79749839 79749839 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 79749839 79749839 A G SNP KIAA1024 ENST00000305428 human ensembl 74_37 +1 known silent c.1350 p.E450 0.606 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 68 0 0 51 5 8.92857 ZFAND6 0 genome.wustl.edu 37 15 80423565 80423565 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 80423565 80423565 C T SNP ZFAND6 ENST00000261749 human ensembl 74_37 +1 known silent c.408 p.S136 0.987 NULL pfam_Znf_A20,pfam_Znf_AN1,smart_Znf_A20,smart_Znf_AN1,pfscan_Znf_A20,pfscan_Znf_AN1 - no_errors ZFAND6 HGNC ENSG00000086666 174 0 0 128 46 26.4368 KIAA1199 0 genome.wustl.edu 37 15 81172107 81172107 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 81172107 81172107 C T SNP KIAA1199 ENST00000220244 human ensembl 74_37 +1 known missense c.292 p.H98Y 0.994 pfam_G8_domain pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 68 0 0 51 22 30.137 KIAA1199 0 genome.wustl.edu 37 15 81173308 81173308 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 81173308 81173308 G A SNP KIAA1199 ENST00000220244 human ensembl 74_37 +1 known missense c.448 p.A150T 0.865 pfam_G8_domain pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 128 0 0 72 29 28.7129 KIAA1199 0 genome.wustl.edu 37 15 81213380 81213380 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 81213380 81213380 T C SNP KIAA1199 ENST00000220244 human ensembl 74_37 +1 known missense c.2011 p.S671P 1.000 superfamily_Pectin_lyase_fold/virulence pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 50 0 0 52 3 5.45455 EFTUD1 0 genome.wustl.edu 37 15 82520574 82520574 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 82520574 82520574 C T SNP EFTUD1 ENST00000268206 human ensembl 74_37 -1 known missense c.1027 p.A343T 1.000 superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_EFG_III-V,superfamily_Transl_B-barrel,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD1 HGNC ENSG00000140598 75 0 0 72 5 6.49351 FSD2 0 genome.wustl.edu 37 15 83455633 83455633 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 83455633 83455633 C A SNP FSD2 ENST00000334574 human ensembl 74_37 -1 known missense c.510 p.E170D 0.974 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin - no_errors FSD2 HGNC ENSG00000186628 114 0 0 100 6 5.66038 BTBD1 0 genome.wustl.edu 37 15 83698894 83698894 + Missense_Mutation SNP C C G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 83698894 83698894 C G SNP BTBD1 ENST00000261721 human ensembl 74_37 -1 known missense c.1049 p.R350P 1.000 pfam_PHR pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD1 HGNC ENSG00000064726 517 0 0 290 147 33.6384 ALPK3 0 genome.wustl.edu 37 15 85400381 85400381 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 85400381 85400381 G A SNP ALPK3 ENST00000258888 human ensembl 74_37 +1 known silent c.3018 p.P1006 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 ALPK3 HGNC ENSG00000136383 47 0 0 31 15 32.6087 SLC28A1 0 genome.wustl.edu 37 15 85478614 85478614 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 85478614 85478614 C T SNP SLC28A1 ENST00000286749 human ensembl 74_37 +1 known silent c.1446 p.C482 0.993 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 SLC28A1 HGNC ENSG00000156222 55 0 0 30 9 23.0769 AGBL1 0 genome.wustl.edu 37 15 87099509 87099509 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 87099509 87099509 G A SNP AGBL1 ENST00000441037 human ensembl 74_37 +1 known missense c.2912 p.G971D 0.063 NULL pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 44 0 0 22 4 15.3846 MRPL46 0 genome.wustl.edu 37 15 89002999 89002999 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 89002999 89002999 C T SNP MRPL46 ENST00000312475 human ensembl 74_37 -1 known missense c.685 p.A229T 1.000 superfamily_NUDIX_hydrolase_dom-like pfam_Ribosomal_L46,superfamily_NUDIX_hydrolase_dom-like - no_errors MRPL46 HGNC ENSG00000259494 68 0 0 45 7 13.4615 AEN 0 genome.wustl.edu 37 15 89172498 89172498 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 89172498 89172498 G A SNP AEN ENST00000379231 human ensembl 74_37 +1 known silent c.582 p.A194 0.239 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors AEN HGNC ENSG00000181026 83 0 0 46 11 19.2982 ACAN 0 genome.wustl.edu 37 15 89382100 89382100 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 89382100 89382100 C T SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.277 p.R93C 0.722 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 80 0 0 49 19 27.9412 RHCG 0 genome.wustl.edu 37 15 90039664 90039664 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 90039664 90039664 C T SNP RHCG ENST00000268122 human ensembl 74_37 -1 known missense c.112 p.A38T 0.012 NULL pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHCG HGNC ENSG00000140519 125 0 0 108 20 15.625 FES 0 genome.wustl.edu 37 15 91436365 91436365 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 91436365 91436365 G A SNP FES ENST00000328850 human ensembl 74_37 +1 known missense c.1862 p.R621H 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,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_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,superfamily_t-SNARE,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FES HGNC ENSG00000182511 35 0 0 20 5 20 MAN2A2 0 genome.wustl.edu 37 15 91461902 91461902 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 91461902 91461902 G A SNP MAN2A2 ENST00000360468 human ensembl 74_37 +1 known missense c.3217 p.A1073T 1.000 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 MAN2A2 HGNC ENSG00000196547 32 0 0 26 5 16.129 UNC45A 0 genome.wustl.edu 37 15 91483621 91483621 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 91483621 91483621 G A SNP UNC45A ENST00000418476 human ensembl 74_37 +1 known missense c.605 p.R202H 1.000 superfamily_ARM-type_fold pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45A HGNC ENSG00000140553 77 0 0 56 20 26.3158 PRC1 0 genome.wustl.edu 37 15 91517404 91517404 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 91517404 91517404 G A SNP PRC1 ENST00000394249 human ensembl 74_37 -1 known nonsense c.1423 p.R475* 1.000 pfam_MAP65_Ase1_PRC1 pfam_MAP65_Ase1_PRC1 - no_errors PRC1 HGNC ENSG00000198901 62 0 0 49 17 25.7576 VPS33B 0 genome.wustl.edu 37 15 91549003 91549003 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 91549003 91549003 G A SNP VPS33B ENST00000333371 human ensembl 74_37 -1 known silent c.951 p.G317 0.999 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS33B HGNC ENSG00000184056 94 0 0 57 6 9.52381 SV2B 0 genome.wustl.edu 37 15 91769547 91769547 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 91769547 91769547 C T SNP SV2B ENST00000330276 human ensembl 74_37 +1 known silent c.54 p.G18 1.000 tigrfam_SV2 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2B HGNC ENSG00000185518 103 0 0 63 5 7.35294 SLCO3A1 0 genome.wustl.edu 37 15 92669301 92669301 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 92669301 92669301 G A SNP SLCO3A1 ENST00000318445 human ensembl 74_37 +1 known silent c.1185 p.A395 0.003 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO3A1 HGNC ENSG00000176463 51 0 0 34 12 26.087 CHD2 0 genome.wustl.edu 37 15 93527700 93527700 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 93527700 93527700 G A SNP CHD2 ENST00000557381 human ensembl 74_37 +1 putative missense c.3207 p.M1069I 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 42 0 0 25 11 30.5556 NR2F2 0 genome.wustl.edu 37 15 96875556 96875556 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 96875556 96875556 G A SNP NR2F2 ENST00000394166 human ensembl 74_37 +1 known silent c.222 p.Q74 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_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors NR2F2 HGNC ENSG00000185551 11 0 0 12 4 25 IGF1R 0 genome.wustl.edu 37 15 99486223 99486223 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 99486223 99486223 C T SNP IGF1R ENST00000268035 human ensembl 74_37 +1 known missense c.3529 p.R1177C 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors IGF1R HGNC ENSG00000140443 141 0 0 106 9 7.82609 IGF1R 0 genome.wustl.edu 37 15 99500550 99500550 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 99500550 99500550 G A SNP IGF1R ENST00000268035 human ensembl 74_37 +1 known missense c.3983 p.G1328D 0.998 pirsf_Tyr_kinase_insulin-like_rcpt pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors IGF1R HGNC ENSG00000140443 28 0 0 8 6 42.8571 SYNM 0 genome.wustl.edu 37 15 99653893 99653893 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 99653893 99653893 G A SNP SYNM ENST00000336292 human ensembl 74_37 +1 known missense c.905 p.G302D 0.992 pfam_IF pfam_IF - no_errors SYNM HGNC ENSG00000182253 24 0 0 19 7 26.9231 SYNM 0 genome.wustl.edu 37 15 99671250 99671250 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 99671250 99671250 G A SNP SYNM ENST00000336292 human ensembl 74_37 +1 known silent c.2682 p.A894 0.000 NULL pfam_IF - no_errors SYNM HGNC ENSG00000182253 20 0 0 14 6 30 ATF7IP2 0 genome.wustl.edu 37 16 10524906 10524906 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 10524906 10524906 C T SNP ATF7IP2 ENST00000356427 human ensembl 74_37 +1 known silent c.429 p.N143 0.000 NULL superfamily_Fibronectin_type3 - no_errors ATF7IP2 HGNC ENSG00000166669 133 0 0 88 28 24.1379 CIITA 0 genome.wustl.edu 37 16 11001033 11001033 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 11001033 11001033 G A SNP CIITA ENST00000324288 human ensembl 74_37 +1 known missense c.1684 p.A562T 0.014 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 30 0 0 17 5 22.7273 TXNDC11 0 genome.wustl.edu 37 16 11815525 11815525 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 11815525 11815525 G T SNP TXNDC11 ENST00000356957 human ensembl 74_37 -1 known missense c.701 p.P234H 1.000 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC11 HGNC ENSG00000153066 33 0 0 25 9 26.4706 SNX29 0 genome.wustl.edu 37 16 12220513 12220513 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 12220513 12220513 G T SNP SNX29 ENST00000306030 human ensembl 74_37 +1 known missense c.271 p.A91S 1.000 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX29 HGNC ENSG00000048471 48 0 0 44 4 8.33333 SNX29 0 genome.wustl.edu 37 16 12618607 12618607 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 12618607 12618607 C T SNP SNX29 ENST00000306030 human ensembl 74_37 +1 known missense c.1072 p.R358C 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX29 HGNC ENSG00000048471 50 0 0 40 10 20 ENSG00000262116 0 genome.wustl.edu 37 16 13297142 13297142 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 13297142 13297142 G A SNP ENSG00000262116 ENST00000571939 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors AC009134.1 Clone_based_vega_gene ENSG00000262116 11 0 0 6 4 40 BAIAP3 0 genome.wustl.edu 37 16 1394700 1394700 + Splice_Site SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 1394700 1394700 G A SNP BAIAP3 ENST00000324385 human ensembl 74_37 +1 known splice_site c.1862+1 e19+1 1.000 - - - no_errors BAIAP3 HGNC ENSG00000007516 105 0 0 56 16 22.2222 PARN 0 genome.wustl.edu 37 16 14576504 14576504 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 14576504 14576504 C T SNP PARN ENST00000437198 human ensembl 74_37 -1 known missense c.1661 p.R554H 0.000 NULL pfam_RNase_CAF1,pfam_PolyA-riboNase_RNA_binding,pfam_R3H_ss-bd,superfamily_RNaseH-like_dom,pfscan_R3H_ss-bd - no_errors PARN HGNC ENSG00000140694 116 0 0 70 25 26.3158 PARN 0 genome.wustl.edu 37 16 14687198 14687198 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 14687198 14687198 A G SNP PARN ENST00000437198 human ensembl 74_37 -1 known missense c.878 p.V293A 1.000 pfam_RNase_CAF1,superfamily_RNaseH-like_dom pfam_RNase_CAF1,pfam_PolyA-riboNase_RNA_binding,pfam_R3H_ss-bd,superfamily_RNaseH-like_dom,pfscan_R3H_ss-bd - no_errors PARN HGNC ENSG00000140694 97 0 0 75 4 5.06329 CLCN7 0 genome.wustl.edu 37 16 1510842 1510842 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 1510842 1510842 G A SNP CLCN7 ENST00000382745 human ensembl 74_37 -1 known silent c.459 p.G153 0.999 superfamily_Cl-channel_core,prints_Cl_channel-7 pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-7 - no_errors CLCN7 HGNC ENSG00000103249 33 0 0 35 4 10.2564 KIAA0430 0 genome.wustl.edu 37 16 15714321 15714321 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 15714321 15714321 T C SNP KIAA0430 ENST00000396368 human ensembl 74_37 -1 known missense c.2707 p.I903V 1.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 51 0 0 46 18 28.125 ABCC1 0 genome.wustl.edu 37 16 16208889 16208889 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 16208889 16208889 G A SNP ABCC1 ENST00000399408 human ensembl 74_37 +1 known missense c.3376 p.A1126T 0.987 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 ABCC1 HGNC ENSG00000103222 44 0 0 30 9 23.0769 XYLT1 0 genome.wustl.edu 37 16 17294440 17294440 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 17294440 17294440 C T SNP XYLT1 ENST00000261381 human ensembl 74_37 -1 known missense c.985 p.A329T 1.000 pfam_Glyco_trans_14 pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT1 HGNC ENSG00000103489 160 0 0 137 9 6.16438 EME2 0 genome.wustl.edu 37 16 1825067 1825067 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 1825067 1825067 C T SNP EME2 ENST00000307394 human ensembl 74_37 +1 known missense c.503 p.P168L 0.771 pfam_ERCC4_domain,smart_ERCC4_domain pfam_ERCC4_domain,smart_ERCC4_domain - no_errors EME2 HGNC ENSG00000197774 104 0 0 84 7 7.69231 TMC7 0 genome.wustl.edu 37 16 19070909 19070909 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 19070909 19070909 A G SNP TMC7 ENST00000569532 human ensembl 74_37 +1 putative silent c.2199 p.L733 0.000 NULL pfam_TMC - no_errors TMC7 HGNC ENSG00000170537 33 0 0 25 8 24.2424 TMC5 0 genome.wustl.edu 37 16 19483429 19483429 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 19483429 19483429 G A SNP TMC5 ENST00000396229 human ensembl 74_37 +1 known missense c.1802 p.R601H 0.069 NULL pfam_TMC - no_errors TMC5 HGNC ENSG00000103534 127 0 0 92 44 32.3529 GPRC5B 0 genome.wustl.edu 37 16 19884011 19884011 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 19884011 19884011 C T SNP GPRC5B ENST00000537135 human ensembl 74_37 -1 known missense c.235 p.A79T 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5B HGNC ENSG00000167191 32 0 0 22 7 24.1379 TBL3 0 genome.wustl.edu 37 16 2024181 2024181 + Splice_Site SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 2024181 2024181 G A SNP TBL3 ENST00000561907 human ensembl 74_37 +1 known splice_site c.94-1 e3-1 0.003 - - - no_errors TBL3 HGNC ENSG00000183751 29 0 0 25 4 13.7931 UMOD 0 genome.wustl.edu 37 16 20362068 20362068 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 20362068 20362068 C T SNP UMOD ENST00000396138 human ensembl 74_37 -1 putative missense c.139 p.A47T 0.000 NULL pfam_ZP_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_EG-like_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors UMOD HGNC ENSG00000169344 54 0 0 33 10 23.2558 PDILT 0 genome.wustl.edu 37 16 20410510 20410510 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 20410510 20410510 T C SNP PDILT ENST00000302451 human ensembl 74_37 -1 known missense c.113 p.H38R 0.986 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors PDILT HGNC ENSG00000169340 123 0 0 115 10 8 ZNF598 0 genome.wustl.edu 37 16 2048277 2048277 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 2048277 2048277 C T SNP ZNF598 ENST00000431526 human ensembl 74_37 -1 known missense c.2671 p.D891N 1.000 NULL superfamily_PAH,smart_Znf_C2H2-like,pfscan_Znf_RING - no_errors ZNF598 HGNC ENSG00000167962 62 0 0 31 28 47.4576 DNAH3 0 genome.wustl.edu 37 16 21033308 21033308 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 21033308 21033308 A G SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.5761 p.Y1921H 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 44 0 0 41 15 26.7857 DNAH3 0 genome.wustl.edu 37 16 21038392 21038392 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 21038392 21038392 C T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.5497 p.E1833K 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 45 0 0 30 4 11.7647 TSC2 0 genome.wustl.edu 37 16 2126084 2126084 + Silent SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 2126084 2126084 C A SNP TSC2 ENST00000219476 human ensembl 74_37 +1 known silent c.2655 p.I885 0.936 pfam_Tuberin-type_domain,prints_Tuberin pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 57 0 0 23 17 42.5 PKD1 0 genome.wustl.edu 37 16 2152614 2152614 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 2152614 2152614 C T SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.8969 p.S2990N 0.026 NULL pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 22 0 0 14 9 39.1304 PKD1 0 genome.wustl.edu 37 16 2162937 2162937 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 2162937 2162937 C T SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.3013 p.V1005I 0.930 pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 44 0 0 20 12 37.5 EEF2K 0 genome.wustl.edu 37 16 22260086 22260086 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 22260086 22260086 G A SNP EEF2K ENST00000263026 human ensembl 74_37 +1 known missense c.358 p.V120I 0.999 superfamily_Kinase-like_dom,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase - no_errors EEF2K HGNC ENSG00000103319 76 0 0 41 6 12.766 MLST8 0 genome.wustl.edu 37 16 2258304 2258304 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 2258304 2258304 G A SNP MLST8 ENST00000397124 human ensembl 74_37 +1 known missense c.667 p.A223T 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors MLST8 HGNC ENSG00000167965 112 0 0 74 20 21.2766 E4F1 0 genome.wustl.edu 37 16 2284179 2284179 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 2284179 2284179 G A SNP E4F1 ENST00000301727 human ensembl 74_37 +1 known silent c.1383 p.R461 0.932 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors E4F1 HGNC ENSG00000167967 18 0 0 9 8 47.0588 USP31 0 genome.wustl.edu 37 16 23079707 23079707 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 23079707 23079707 C T SNP USP31 ENST00000219689 human ensembl 74_37 -1 known missense c.3719 p.R1240H 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP31 HGNC ENSG00000103404 211 0 0 140 43 23.4973 SCNN1G 0 genome.wustl.edu 37 16 23197805 23197805 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 23197805 23197805 C T SNP SCNN1G ENST00000300061 human ensembl 74_37 +1 known silent c.213 p.C71 0.761 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1G HGNC ENSG00000166828 43 0 0 46 5 9.80392 SCNN1B 0 genome.wustl.edu 37 16 23364329 23364329 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 23364329 23364329 C T SNP SCNN1B ENST00000307331 human ensembl 74_37 +1 known silent c.654 p.G218 0.053 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1B HGNC ENSG00000168447 155 0 0 108 29 21.1679 COG7 0 genome.wustl.edu 37 16 23421653 23421653 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 23421653 23421653 G A SNP COG7 ENST00000307149 human ensembl 74_37 -1 known missense c.1438 p.R480W 0.992 pfam_COG7 pfam_COG7 - no_errors COG7 HGNC ENSG00000168434 41 0 0 38 4 9.52381 DCTN5 0 genome.wustl.edu 37 16 23652875 23652875 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 23652875 23652875 C T SNP DCTN5 ENST00000300087 human ensembl 74_37 +1 known silent c.12 p.G4 1.000 superfamily_Trimer_LpxA-like superfamily_Trimer_LpxA-like - no_errors DCTN5 HGNC ENSG00000166847 24 0 0 15 6 28.5714 PRKCB 0 genome.wustl.edu 37 16 23847557 23847557 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 23847557 23847557 G A SNP PRKCB ENST00000303531 human ensembl 74_37 +1 known missense c.61 p.A21T 1.000 pirsf_Protein_kinase_C_a/b/g pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCB HGNC ENSG00000166501 50 0 0 14 14 50 RBBP6 0 genome.wustl.edu 37 16 24567768 24567768 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 24567768 24567768 C T SNP RBBP6 ENST00000319715 human ensembl 74_37 +1 known missense c.674 p.A225V 1.000 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 85 0 0 63 6 8.69565 RBBP6 0 genome.wustl.edu 37 16 24583525 24583525 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 24583525 24583525 G A SNP RBBP6 ENST00000319715 human ensembl 74_37 +1 known missense c.5138 p.S1713N 1.000 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 68 0 0 38 19 33.3333 TNRC6A 0 genome.wustl.edu 37 16 24818069 24818069 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 24818069 24818069 C T SNP TNRC6A ENST00000395799 human ensembl 74_37 +1 known missense c.4504 p.P1502S 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 91 0 0 77 29 27.3585 ARHGAP17 0 genome.wustl.edu 37 16 24942549 24942549 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 24942549 24942549 C T SNP ARHGAP17 ENST00000289968 human ensembl 74_37 -1 known missense c.2071 p.A691T 0.002 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 56 0 0 39 5 11.3636 IL4R 0 genome.wustl.edu 37 16 27370284 27370284 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 27370284 27370284 G A SNP IL4R ENST00000170630 human ensembl 74_37 +1 known missense c.818 p.R273H 0.020 NULL pfam_IL-4_rcpt-alpha_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL4R HGNC ENSG00000077238 56 0 0 34 10 22.7273 KIAA0556 0 genome.wustl.edu 37 16 27709701 27709701 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 27709701 27709701 C T SNP KIAA0556 ENST00000261588 human ensembl 74_37 +1 known silent c.993 p.C331 0.000 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 112 0 0 82 25 23.3645 SRRM2 0 genome.wustl.edu 37 16 2816576 2816576 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 2816576 2816576 G A SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known missense c.6047 p.R2016H 1.000 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 77 0 0 47 25 34.7222 FLYWCH1 0 genome.wustl.edu 37 16 2988353 2988353 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 2988353 2988353 G A SNP FLYWCH1 ENST00000399667 human ensembl 74_37 +1 known missense c.2093 p.R698H 0.190 pfam_Znf_FLYWCH pfam_Znf_FLYWCH - no_errors FLYWCH1 HGNC ENSG00000059122 12 0 0 5 5 50 TBX6 0 genome.wustl.edu 37 16 30100018 30100018 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 30100018 30100018 G T SNP TBX6 ENST00000279386 human ensembl 74_37 -1 known missense c.764 p.P255Q 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury - no_errors TBX6 HGNC ENSG00000149922 135 0 0 97 6 5.82524 ZNF764 0 genome.wustl.edu 37 16 30569345 30569345 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 30569345 30569345 G A SNP ZNF764 ENST00000252797 human ensembl 74_37 -1 known silent c.159 p.D53 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 ZNF764 HGNC ENSG00000169951 19 0 0 8 6 42.8571 SRCAP 0 genome.wustl.edu 37 16 30732759 30732759 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 30732759 30732759 G A SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known missense c.3503 p.R1168H 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 81 0 0 60 4 6.25 RNF40 0 genome.wustl.edu 37 16 30780692 30780692 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 30780692 30780692 C T SNP RNF40 ENST00000324685 human ensembl 74_37 +1 known silent c.2433 p.G811 0.979 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC ENSG00000103549 71 0 0 54 6 10 ZNF629 0 genome.wustl.edu 37 16 30794300 30794300 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 30794300 30794300 C T SNP ZNF629 ENST00000262525 human ensembl 74_37 -1 known missense c.1349 p.R450H 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF629 HGNC ENSG00000102870 113 0 0 93 8 7.92079 ZNF629 0 genome.wustl.edu 37 16 30794364 30794364 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 30794364 30794364 G A SNP ZNF629 ENST00000262525 human ensembl 74_37 -1 known missense c.1285 p.P429S 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF629 HGNC ENSG00000102870 63 0 0 43 8 15.6863 SETD1A 0 genome.wustl.edu 37 16 30976445 30976445 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 30976445 30976445 G A SNP SETD1A ENST00000262519 human ensembl 74_37 +1 known missense c.1382 p.R461H 0.995 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1A HGNC ENSG00000099381 30 0 0 15 4 21.0526 ZNF668 0 genome.wustl.edu 37 16 31075337 31075337 + Silent SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 31075337 31075337 G T SNP ZNF668 ENST00000426488 human ensembl 74_37 -1 known silent c.513 p.A171 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF668 HGNC ENSG00000167394 9 0 0 4 6 60 ZNF205 0 genome.wustl.edu 37 16 3169748 3169748 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 3169748 3169748 C T SNP ZNF205 ENST00000219091 human ensembl 74_37 +1 known missense c.1087 p.P363S 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF205 HGNC ENSG00000122386 74 0 0 79 5 5.95238 BMS1P8 0 genome.wustl.edu 37 16 33497986 33497986 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 33497986 33497986 C T SNP BMS1P8 ENST00000565156 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors BMS1P8 HGNC ENSG00000260518 56 0 0 41 12 22.6415 ZNF75A 0 genome.wustl.edu 37 16 3367335 3367335 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 3367335 3367335 G A SNP ZNF75A ENST00000574298 human ensembl 74_37 +1 known missense c.357 p.M119I 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 ZNF75A HGNC ENSG00000162086 77 0 0 68 27 28.4211 AXIN1 0 genome.wustl.edu 37 16 339492 339492 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 339492 339492 C T SNP AXIN1 ENST00000262320 human ensembl 74_37 -1 known missense c.2410 p.A804T 0.058 pfam_DIX,smart_DIX,pfscan_DIX pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN1 HGNC ENSG00000103126 38 0 0 18 9 33.3333 OR2C1 0 genome.wustl.edu 37 16 3406131 3406131 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 3406131 3406131 G T SNP OR2C1 ENST00000304936 human ensembl 74_37 +1 known missense c.191 p.S64I 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 OR2C1 HGNC ENSG00000168158 125 0 0 107 10 8.54701 SLX4 0 genome.wustl.edu 37 16 3640237 3640237 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 3640237 3640237 C T SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known silent c.3402 p.S1134 0.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 75 0 0 71 5 6.57895 CREBBP 0 genome.wustl.edu 37 16 3781373 3781373 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 3781373 3781373 G A SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known silent c.4992 p.R1664 0.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 11 0 0 8 4 33.3333 DNAJA3 0 genome.wustl.edu 37 16 4491417 4491417 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 4491417 4491417 C T SNP DNAJA3 ENST00000262375 human ensembl 74_37 +1 known silent c.471 p.Y157 0.688 superfamily_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain pfam_DnaJ_domain,pfam_DnaJ_C,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain - no_errors DNAJA3 HGNC ENSG00000103423 64 0 0 29 15 34.0909 VPS35 0 genome.wustl.edu 37 16 46712899 46712899 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 46712899 46712899 G A SNP VPS35 ENST00000299138 human ensembl 74_37 -1 known missense c.676 p.R226C 1.000 pfam_VPS35,superfamily_ARM-type_fold pfam_VPS35,superfamily_ARM-type_fold - no_errors VPS35 HGNC ENSG00000069329 167 0 0 126 46 26.7442 ITFG1 0 genome.wustl.edu 37 16 47294547 47294547 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 47294547 47294547 G A SNP ITFG1 ENST00000320640 human ensembl 74_37 -1 known missense c.1130 p.A377V 0.441 NULL NULL - no_errors ITFG1 HGNC ENSG00000129636 98 0 0 63 15 19.2308 ABCC12 0 genome.wustl.edu 37 16 48134814 48134814 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 48134814 48134814 C T SNP ABCC12 ENST00000311303 human ensembl 74_37 -1 known missense c.3007 p.A1003T 0.996 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 58 0 0 29 14 32.5581 ABCC11 0 genome.wustl.edu 37 16 48250120 48250120 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 48250120 48250120 C T SNP ABCC11 ENST00000356608 human ensembl 74_37 -1 known missense c.856 p.A286T 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 ABCC11 HGNC ENSG00000121270 281 0 0 190 22 10.3774 GLYR1 0 genome.wustl.edu 37 16 4873830 4873830 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 4873830 4873830 C T SNP GLYR1 ENST00000321919 human ensembl 74_37 -1 known missense c.616 p.A206T 0.003 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 160 0 0 133 30 18.4049 CBLN1 0 genome.wustl.edu 37 16 49315138 49315138 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 49315138 49315138 C T SNP CBLN1 ENST00000219197 human ensembl 74_37 -1 known missense c.239 p.R80H 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN1 HGNC ENSG00000102924 79 0 0 48 9 15.7895 PPL 0 genome.wustl.edu 37 16 4933784 4933784 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 4933784 4933784 C T SNP PPL ENST00000345988 human ensembl 74_37 -1 known silent c.4872 p.R1624 0.998 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 58 0 0 48 14 22.5806 ADCY7 0 genome.wustl.edu 37 16 50342601 50342601 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 50342601 50342601 G A SNP ADCY7 ENST00000254235 human ensembl 74_37 +1 known silent c.1959 p.T653 0.001 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 36 0 0 25 8 24.2424 BRD7 0 genome.wustl.edu 37 16 50388806 50388806 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 50388806 50388806 G A SNP BRD7 ENST00000394689 human ensembl 74_37 -1 known missense c.286 p.R96W 0.735 NULL pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD7 HGNC ENSG00000166164 120 0 0 132 9 6.38298 NKD1 0 genome.wustl.edu 37 16 50659407 50659407 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 50659407 50659407 C T SNP NKD1 ENST00000268459 human ensembl 74_37 +1 known silent c.378 p.C126 1.000 NULL pfscan_EF_hand_dom - no_errors NKD1 HGNC ENSG00000140807 37 0 0 16 9 36 NOD2 0 genome.wustl.edu 37 16 50763760 50763760 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 50763760 50763760 G T SNP NOD2 ENST00000300589 human ensembl 74_37 +1 known missense c.2998 p.A1000S 0.977 smart_Leu-rich_rpt_RNase_inh_sub-typ 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 88 0 0 58 10 14.7059 RAB11FIP3 0 genome.wustl.edu 37 16 511442 511442 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 511442 511442 C T SNP RAB11FIP3 ENST00000457159 human ensembl 74_37 +1 known silent c.753 p.L251 0.531 NULL pfam_Rab-bd_FIP-RBD,pfscan_EF_hand_dom - no_errors RAB11FIP3 HGNC ENSG00000090565 144 0 0 122 10 7.57576 CHD9 0 genome.wustl.edu 37 16 53331022 53331022 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 53331022 53331022 G A SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known missense c.5665 p.A1889T 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,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 CHD9 HGNC ENSG00000177200 135 0 0 116 13 10.0775 CHD9 0 genome.wustl.edu 37 16 53358035 53358035 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 53358035 53358035 C T SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known missense c.7922 p.A2641V 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,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 CHD9 HGNC ENSG00000177200 161 0 0 96 25 20.6612 RPGRIP1L 0 genome.wustl.edu 37 16 53675004 53675004 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 53675004 53675004 G A SNP RPGRIP1L ENST00000379925 human ensembl 74_37 -1 known missense c.2899 p.R967C 0.230 NULL pfam_DUF3250,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RPGRIP1L HGNC ENSG00000103494 64 0 0 28 7 20 LPCAT2 0 genome.wustl.edu 37 16 55613142 55613142 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 55613142 55613142 A G SNP LPCAT2 ENST00000262134 human ensembl 74_37 +1 known missense c.1436 p.D479G 1.000 NULL pfam_EF_hand_dom,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors LPCAT2 HGNC ENSG00000087253 82 0 0 58 22 27.5 SLC6A2 0 genome.wustl.edu 37 16 55730216 55730216 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 55730216 55730216 C T SNP SLC6A2 ENST00000219833 human ensembl 74_37 +1 known silent c.1227 p.F409 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline - no_errors SLC6A2 HGNC ENSG00000103546 137 0 0 107 11 9.32203 CES1 0 genome.wustl.edu 37 16 55855375 55855375 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 55855375 55855375 G A SNP CES1 ENST00000360526 human ensembl 74_37 -1 known missense c.598 p.R200C 0.980 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES1 HGNC ENSG00000198848 41 0 0 24 8 25 CES1 0 genome.wustl.edu 37 16 55862794 55862794 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 55862794 55862794 C T SNP CES1 ENST00000360526 human ensembl 74_37 -1 known missense c.145 p.A49T 0.371 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES1 HGNC ENSG00000198848 61 0 0 47 9 16.0714 CES5A 0 genome.wustl.edu 37 16 55883567 55883567 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 55883567 55883567 A G SNP CES5A ENST00000521992 human ensembl 74_37 -1 known silent c.1479 p.G493 0.903 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES5A HGNC ENSG00000159398 217 0 0 149 8 5.09554 CES5A 0 genome.wustl.edu 37 16 55907786 55907786 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 55907786 55907786 C T SNP CES5A ENST00000521992 human ensembl 74_37 -1 known silent c.324 p.S108 0.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES5A HGNC ENSG00000159398 39 0 0 23 8 25.8065 MT1JP 0 genome.wustl.edu 37 16 56669778 56669778 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 56669778 56669778 C T SNP MT1JP ENST00000564564 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MT1JP HGNC ENSG00000255986 66 0 0 46 26 36.1111 MT1F 0 genome.wustl.edu 37 16 56693075 56693075 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 56693075 56693075 G A SNP MT1F ENST00000394501 human ensembl 74_37 +1 known silent c.188 p.*63 0.966 NULL pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert - no_errors MT1F HGNC ENSG00000198417 95 0 0 61 20 24.6914 NLRC5 0 genome.wustl.edu 37 16 57060066 57060066 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 57060066 57060066 C T SNP NLRC5 ENST00000262510 human ensembl 74_37 +1 known missense c.1211 p.A404V 0.081 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 116 0 0 68 42 38.1818 NLRC5 0 genome.wustl.edu 37 16 57060074 57060074 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 57060074 57060074 G A SNP NLRC5 ENST00000262510 human ensembl 74_37 +1 known missense c.1219 p.A407T 0.541 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 101 0 0 95 6 5.94059 POLR2C 0 genome.wustl.edu 37 16 57503154 57503154 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 57503154 57503154 G A SNP POLR2C ENST00000219252 human ensembl 74_37 +1 known silent c.336 p.T112 0.000 pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,superfamily_RBP11-like_dimer,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,superfamily_RBP11-like_dimer,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 - no_errors POLR2C HGNC ENSG00000102978 82 0 0 60 25 29.4118 CCDC135 0 genome.wustl.edu 37 16 57735853 57735853 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 57735853 57735853 G A SNP CCDC135 ENST00000360716 human ensembl 74_37 +1 known silent c.510 p.S170 0.001 NULL NULL - no_errors CCDC135 HGNC ENSG00000159625 87 0 0 66 8 10.8108 KIFC3 0 genome.wustl.edu 37 16 57805529 57805529 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 57805529 57805529 G A SNP KIFC3 ENST00000379655 human ensembl 74_37 -1 known missense c.451 p.R151W 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC3 HGNC ENSG00000140859 16 0 0 9 5 35.7143 CNGB1 0 genome.wustl.edu 37 16 57957240 57957240 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 57957240 57957240 G A SNP CNGB1 ENST00000251102 human ensembl 74_37 -1 known missense c.1580 p.A527V 0.115 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 53 0 0 49 12 19.6721 ZNF319 0 genome.wustl.edu 37 16 58031051 58031051 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 58031051 58031051 G A SNP ZNF319 ENST00000299237 human ensembl 74_37 -1 known silent c.1119 p.C373 0.998 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF319 HGNC ENSG00000166188 67 0 0 34 16 32 ZNF319 0 genome.wustl.edu 37 16 58031575 58031575 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 58031575 58031575 C T SNP ZNF319 ENST00000299237 human ensembl 74_37 -1 known missense c.595 p.D199N 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF319 HGNC ENSG00000166188 93 0 0 61 23 27.381 CNOT1 0 genome.wustl.edu 37 16 58570932 58570932 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 58570932 58570932 G A SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known silent c.5607 p.G1869 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 92 0 0 73 13 15.1163 CNOT1 0 genome.wustl.edu 37 16 58622736 58622736 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 58622736 58622736 G A SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known silent c.177 p.G59 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 47 0 0 20 11 35.4839 SLC38A7 0 genome.wustl.edu 37 16 58712668 58712668 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 58712668 58712668 G A SNP SLC38A7 ENST00000219320 human ensembl 74_37 -1 known missense c.401 p.A134V 1.000 pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease - no_errors SLC38A7 HGNC ENSG00000103042 56 0 0 26 13 33.3333 LINC00922 0 genome.wustl.edu 37 16 65319329 65319329 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 65319329 65319329 C T SNP LINC00922 ENST00000564041 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00922 HGNC ENSG00000261742 61 0 0 32 10 23.8095 CDH5 0 genome.wustl.edu 37 16 66420974 66420974 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 66420974 66420974 C T SNP CDH5 ENST00000341529 human ensembl 74_37 +1 known missense c.473 p.A158V 0.864 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH5 HGNC ENSG00000179776 34 0 0 30 5 14.2857 CMTM2 0 genome.wustl.edu 37 16 66613521 66613521 + Missense_Mutation SNP A A C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 66613521 66613521 A C SNP CMTM2 ENST00000268595 human ensembl 74_37 +1 known missense c.11 p.K4T 0.018 NULL NULL - no_errors CMTM2 HGNC ENSG00000140932 51 0 0 27 13 32.5 NAE1 0 genome.wustl.edu 37 16 66852491 66852491 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 66852491 66852491 C T SNP NAE1 ENST00000290810 human ensembl 74_37 -1 known silent c.561 p.K187 0.996 superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB - no_errors NAE1 HGNC ENSG00000159593 66 0 0 52 4 7.14286 CBFB 0 genome.wustl.edu 37 16 67116168 67116168 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 67116168 67116168 G A SNP CBFB ENST00000290858 human ensembl 74_37 +1 known missense c.452 p.R151H 1.000 pfam_CBF_beta pfam_CBF_beta,superfamily_CBF_beta - no_errors CBFB HGNC ENSG00000067955 72 0 0 36 18 33.3333 C16orf70 0 genome.wustl.edu 37 16 67168349 67168349 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 67168349 67168349 C T SNP C16orf70 ENST00000219139 human ensembl 74_37 +1 known nonsense c.640 p.R214* 1.000 pfam_UPF0183 pfam_UPF0183 - no_errors C16orf70 HGNC ENSG00000125149 223 1 0.446429 151 46 23.3503 ELMO3 0 genome.wustl.edu 37 16 67234673 67234673 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 67234673 67234673 C T SNP ELMO3 ENST00000393997 human ensembl 74_37 +1 known silent c.786 p.S262 0.993 pfam_DUF3361,superfamily_ARM-type_fold pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO3 HGNC ENSG00000102890 20 0 0 15 5 25 ELMO3 0 genome.wustl.edu 37 16 67236873 67236873 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 67236873 67236873 G A SNP ELMO3 ENST00000393997 human ensembl 74_37 +1 known silent c.1800 p.T600 0.541 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO3 HGNC ENSG00000102890 25 0 0 27 6 18.1818 TPPP3 0 genome.wustl.edu 37 16 67424250 67424250 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 67424250 67424250 C T SNP TPPP3 ENST00000290942 human ensembl 74_37 -1 known missense c.358 p.G120S 0.723 pfam_P25-alpha pfam_P25-alpha - no_errors TPPP3 HGNC ENSG00000159713 99 0 0 69 21 23.3333 ZDHHC1 0 genome.wustl.edu 37 16 67432185 67432185 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 67432185 67432185 C T SNP ZDHHC1 ENST00000348579 human ensembl 74_37 -1 known missense c.857 p.R286H 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC1 HGNC ENSG00000159714 77 0 0 69 5 6.75676 HSD11B2 0 genome.wustl.edu 37 16 67470767 67470767 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 67470767 67470767 G A SNP HSD11B2 ENST00000326152 human ensembl 74_37 +1 known missense c.1079 p.R360H 1.000 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH - no_errors HSD11B2 HGNC ENSG00000176387 92 0 0 43 24 35.8209 RANBP10 0 genome.wustl.edu 37 16 67763353 67763353 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 67763353 67763353 C T SNP RANBP10 ENST00000317506 human ensembl 74_37 -1 known silent c.1182 p.A394 0.004 NULL pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RANBP10 HGNC ENSG00000141084 57 0 0 29 7 19.4444 NRN1L 0 genome.wustl.edu 37 16 67920119 67920119 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 67920119 67920119 C T SNP NRN1L ENST00000339176 human ensembl 74_37 +1 known missense c.455 p.A152V 0.971 NULL NULL - no_errors NRN1L HGNC ENSG00000188038 21 0 0 7 4 36.3636 CTRL 0 genome.wustl.edu 37 16 67964654 67964654 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 67964654 67964654 G T SNP CTRL ENST00000574481 human ensembl 74_37 -1 known missense c.293 p.P98H 0.007 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CTRL HGNC ENSG00000141086 67 0 0 38 15 28.3019 DDX28 0 genome.wustl.edu 37 16 68055612 68055612 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 68055612 68055612 G A SNP DDX28 ENST00000332395 human ensembl 74_37 -1 known silent c.1494 p.T498 0.001 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX28 HGNC ENSG00000182810 40 0 0 36 3 7.69231 PLA2G15 0 genome.wustl.edu 37 16 68289879 68289879 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 68289879 68289879 G A SNP PLA2G15 ENST00000219345 human ensembl 74_37 +1 known missense c.713 p.R238H 0.996 pfam_LACT/PDAT_acylTrfase pfam_LACT/PDAT_acylTrfase - no_errors PLA2G15 HGNC ENSG00000103066 13 0 0 6 3 33.3333 SLC7A6OS 0 genome.wustl.edu 37 16 68336334 68336334 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 68336334 68336334 C T SNP SLC7A6OS ENST00000263997 human ensembl 74_37 -1 known missense c.749 p.R250H 0.998 NULL NULL - no_errors SLC7A6OS HGNC ENSG00000103061 138 0 0 116 12 9.375 CDH3 0 genome.wustl.edu 37 16 68725731 68725731 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 68725731 68725731 C T SNP CDH3 ENST00000264012 human ensembl 74_37 +1 known missense c.1904 p.A635V 0.996 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH3 HGNC ENSG00000062038 108 0 0 76 14 15.5556 TERF2 0 genome.wustl.edu 37 16 69390889 69390889 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 69390889 69390889 G A SNP TERF2 ENST00000254942 human ensembl 74_37 -1 known missense c.1541 p.A514V 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom 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 TERF2 HGNC ENSG00000132604 117 0 0 86 24 21.8182 WWP2 0 genome.wustl.edu 37 16 69874131 69874131 + Missense_Mutation SNP T T G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 69874131 69874131 T G SNP WWP2 ENST00000356003 human ensembl 74_37 +1 known missense c.443 p.L148R 1.000 NULL pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom - no_errors WWP2 HGNC ENSG00000198373 86 0 0 56 28 33.3333 WWP2 0 genome.wustl.edu 37 16 69942692 69942692 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 69942692 69942692 C T SNP WWP2 ENST00000356003 human ensembl 74_37 +1 known missense c.943 p.R315C 0.993 pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom - no_errors WWP2 HGNC ENSG00000198373 97 0 0 80 35 30.4348 PDXDC2P 0 genome.wustl.edu 37 16 70029986 70029986 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 70029986 70029986 C T SNP PDXDC2P ENST00000325845 human ensembl 74_37 -1 known rna NULL NULL 0.514 - - - no_errors PDXDC2P HGNC ENSG00000196696 29 0 0 9 3 25 HYDIN 0 genome.wustl.edu 37 16 70867804 70867804 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 70867804 70867804 G A SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative silent c.13665 p.G4555 0.583 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 20 0 0 17 6 26.087 HYDIN 0 genome.wustl.edu 37 16 70989429 70989429 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 70989429 70989429 G A SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative silent c.6165 p.S2055 0.013 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 26 0 0 26 12 31.5789 CHST4 0 genome.wustl.edu 37 16 71570901 71570901 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 71570901 71570901 C T SNP CHST4 ENST00000338482 human ensembl 74_37 +1 known silent c.321 p.S107 0.582 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST4 HGNC ENSG00000140835 60 0 0 41 16 28.0702 WDR90 0 genome.wustl.edu 37 16 716352 716352 + Splice_Site SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 716352 716352 T C SNP WDR90 ENST00000315764 human ensembl 74_37 +1 known splice_site c.537+2 e3+2 0.990 - - - no_errors WDR90 HGNC ENSG00000161996 51 0 0 31 12 27.907 DHX38 0 genome.wustl.edu 37 16 72130190 72130190 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 72130190 72130190 G A SNP DHX38 ENST00000268482 human ensembl 74_37 +1 known missense c.134 p.R45H 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX38 HGNC ENSG00000140829 46 0 0 27 9 25 DHX38 0 genome.wustl.edu 37 16 72130838 72130838 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 72130838 72130838 G A SNP DHX38 ENST00000268482 human ensembl 74_37 +1 known silent c.441 p.S147 0.089 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX38 HGNC ENSG00000140829 117 0 0 66 35 34.6535 DHX38 0 genome.wustl.edu 37 16 72138392 72138392 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 72138392 72138392 C T SNP DHX38 ENST00000268482 human ensembl 74_37 +1 known missense c.2018 p.A673V 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_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX38 HGNC ENSG00000140829 36 0 0 36 9 20 PMFBP1 0 genome.wustl.edu 37 16 72162994 72162994 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 72162994 72162994 G A SNP PMFBP1 ENST00000537465 human ensembl 74_37 -1 known missense c.1936 p.R646W 0.001 NULL NULL - no_errors PMFBP1 HGNC ENSG00000118557 202 0 0 136 45 24.8619 RHOT2 0 genome.wustl.edu 37 16 721922 721922 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 721922 721922 G A SNP RHOT2 ENST00000315082 human ensembl 74_37 +1 known silent c.1017 p.A339 0.731 pirsf_Rho_GTPase_Mt,pfscan_EF_hand_dom pirsf_Rho_GTPase_Mt,pfam_EF_hand_assoc_2,pfam_MIRO-like,pfam_EF_hand_assoc_1,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,pfscan_EF_hand_dom - no_errors RHOT2 HGNC ENSG00000140983 38 0 0 25 9 26.4706 ZFHX3 0 genome.wustl.edu 37 16 72822480 72822480 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 72822480 72822480 C T SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.9695 p.R3232H 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 158 0 0 100 38 27.5362 ZFHX3 0 genome.wustl.edu 37 16 72830135 72830135 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 72830135 72830135 C T SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.6446 p.R2149H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 52 0 0 35 3 7.89474 ZFHX3 0 genome.wustl.edu 37 16 72991508 72991508 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 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 62 0 0 35 13 27.0833 NPIPB15 0 genome.wustl.edu 37 16 74415485 74415485 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 74415485 74415485 C T SNP NPIPB15 ENST00000429990 human ensembl 74_37 +1 known silent c.138 p.G46 0.031 NULL NULL - no_errors NPIPB15 HGNC ENSG00000196436 34 0 0 24 7 22.5806 CLEC18B 0 genome.wustl.edu 37 16 74455114 74455114 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 74455114 74455114 C T SNP CLEC18B ENST00000339953 human ensembl 74_37 -1 known missense c.55 p.A19T 0.970 NULL pfam_CAP_domain,pfam_C-type_lectin,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EG-like_dom,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1 - no_errors CLEC18B HGNC ENSG00000140839 69 0 0 55 7 11.2903 LDHD 0 genome.wustl.edu 37 16 75149234 75149234 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 75149234 75149234 G A SNP LDHD ENST00000300051 human ensembl 74_37 -1 known silent c.189 p.C63 0.616 superfamily_FAD-bd_2 pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-linked_Oxase-like_C,superfamily_FAD-bd_2 - no_errors LDHD HGNC ENSG00000166816 85 0 0 84 10 10.6383 ADAT1 0 genome.wustl.edu 37 16 75654554 75654554 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 75654554 75654554 G A SNP ADAT1 ENST00000307921 human ensembl 74_37 -1 known silent c.144 p.C48 0.000 smart_A_deamin pfam_A_deamin,smart_A_deamin,pfscan_A_deamin - no_errors ADAT1 HGNC ENSG00000065457 61 0 0 62 7 10.1449 CNTNAP4 0 genome.wustl.edu 37 16 76569665 76569665 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 76569665 76569665 G A SNP CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known silent c.2976 p.G992 1.000 superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC ENSG00000152910 31 0 0 23 8 25.8065 NARFL 0 genome.wustl.edu 37 16 780500 780500 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 780500 780500 C T SNP NARFL ENST00000251588 human ensembl 74_37 -1 known missense c.1348 p.D450N 0.594 pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARFL HGNC ENSG00000103245 54 0 0 35 11 23.913 C16orf46 0 genome.wustl.edu 37 16 81095510 81095510 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 81095510 81095510 G A SNP C16orf46 ENST00000299578 human ensembl 74_37 -1 known silent c.444 p.S148 0.774 NULL NULL - no_errors C16orf46 HGNC ENSG00000166455 187 0 0 100 32 24.2424 BCMO1 0 genome.wustl.edu 37 16 81279097 81279097 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 81279097 81279097 C T SNP BCMO1 ENST00000425577 human ensembl 74_37 +1 known missense c.5 p.A2V 1.000 NULL pfam_Carotenoid_Oase - no_errors BCMO1 HGNC ENSG00000135697 195 0 0 136 46 25.2747 PLCG2 0 genome.wustl.edu 37 16 81957177 81957177 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 81957177 81957177 G A SNP PLCG2 ENST00000359376 human ensembl 74_37 +1 known missense c.2395 p.V799I 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_SH3_domain,smart_SH3_domain,smart_Pleckstrin_homology,pirsf_PLC-gamma,pfscan_SH3_domain,prints_SH3_domain pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC ENSG00000197943 34 0 0 18 5 21.7391 PLCG2 0 genome.wustl.edu 37 16 81973507 81973507 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 81973507 81973507 C T SNP PLCG2 ENST00000359376 human ensembl 74_37 +1 known silent c.3324 p.G1108 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC ENSG00000197943 97 0 0 80 7 8.04598 HSD17B2 0 genome.wustl.edu 37 16 82131906 82131906 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 82131906 82131906 C T SNP HSD17B2 ENST00000199936 human ensembl 74_37 +1 known silent c.1029 p.G343 0.000 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B2 HGNC ENSG00000086696 159 0 0 144 18 11.1111 DNAAF1 0 genome.wustl.edu 37 16 84211351 84211351 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 84211351 84211351 C T SNP DNAAF1 ENST00000378553 human ensembl 74_37 +1 known silent c.2082 p.A694 0.000 NULL NULL - no_errors DNAAF1 HGNC ENSG00000154099 86 0 0 68 16 19.0476 ENSG00000261286 0 genome.wustl.edu 37 16 84494133 84494133 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 84494133 84494133 C T SNP ENSG00000261286 ENST00000565700 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-517C16.2 Clone_based_vega_gene ENSG00000261286 40 0 0 33 12 26.6667 FOXF1 0 genome.wustl.edu 37 16 86544554 86544554 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 86544554 86544554 G A SNP FOXF1 ENST00000262426 human ensembl 74_37 +1 known missense c.379 p.A127T 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 FOXF1 HGNC ENSG00000103241 91 0 0 60 25 29.4118 MTHFSD 0 genome.wustl.edu 37 16 86575334 86575334 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 86575334 86575334 C T SNP MTHFSD ENST00000360900 human ensembl 74_37 -1 known missense c.650 p.R217H 0.911 NULL pfam_FTHF_cligase,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MTHFSD HGNC ENSG00000103248 32 0 0 22 8 26.6667 FOXL1 0 genome.wustl.edu 37 16 86612374 86612374 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 86612374 86612374 G A SNP FOXL1 ENST00000320241 human ensembl 74_37 +1 known silent c.45 p.S15 0.223 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXL1 HGNC ENSG00000176678 41 0 0 37 15 28.8462 SNAI3 0 genome.wustl.edu 37 16 88744868 88744868 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 88744868 88744868 G A SNP SNAI3 ENST00000332281 human ensembl 74_37 -1 known silent c.867 p.C289 0.988 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI3 HGNC ENSG00000185669 8 0 0 10 7 41.1765 CDT1 0 genome.wustl.edu 37 16 88872194 88872194 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 88872194 88872194 G A SNP CDT1 ENST00000301019 human ensembl 74_37 +1 known missense c.749 p.R250H 1.000 pfam_CDT1_Gemini-bd-like pfam_CDT1_Gemini-bd-like - no_errors CDT1 HGNC ENSG00000167513 24 0 0 21 5 19.2308 APRT 0 genome.wustl.edu 37 16 88876190 88876190 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 88876190 88876190 G A SNP APRT ENST00000378364 human ensembl 74_37 -1 known silent c.459 p.C153 0.592 pfam_PRibTrfase_dom,tigrfam_Ade_phspho_trans pfam_PRibTrfase_dom,tigrfam_Ade_phspho_trans - no_errors APRT HGNC ENSG00000198931 40 0 0 28 10 26.3158 ANKRD11 0 genome.wustl.edu 37 16 89348895 89348895 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 89348895 89348895 T C SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.4055 p.H1352R 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 68 0 0 51 7 12.069 FANCA 0 genome.wustl.edu 37 16 89857839 89857839 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 89857839 89857839 G A SNP FANCA ENST00000389301 human ensembl 74_37 -1 known missense c.1331 p.A444V 0.001 NULL pfam_Fanconia,prints_Fanconia - no_errors FANCA HGNC ENSG00000187741 34 0 0 8 7 46.6667 USP7 0 genome.wustl.edu 37 16 8994445 8994445 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 8994445 8994445 C T SNP USP7 ENST00000344836 human ensembl 74_37 -1 known missense c.2251 p.V751M 1.000 NULL pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67 - no_errors USP7 HGNC ENSG00000187555 89 0 0 59 27 31.3953 MC1R 0 genome.wustl.edu 37 16 89986038 89986038 + Silent SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 89986038 89986038 C A SNP MC1R ENST00000555147 human ensembl 74_37 +1 known silent c.372 p.T124 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MSH_rcpt,prints_Melcrt_ACTH_rcpt,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 30 0 0 34 5 12.8205 TUBB3 0 genome.wustl.edu 37 16 90001913 90001913 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 90001913 90001913 G A SNP TUBB3 ENST00000315491 human ensembl 74_37 +1 known missense c.1054 p.A352T 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB3 Uniprot_gn ENSG00000258947 176 0 0 108 33 23.4043 GAS8 0 genome.wustl.edu 37 16 90099232 90099232 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 90099232 90099232 G A SNP GAS8 ENST00000268699 human ensembl 74_37 +1 known missense c.395 p.R132H 0.274 NULL NULL - no_errors GAS8 HGNC ENSG00000141013 63 0 0 49 11 18.3333 MYH13 0 genome.wustl.edu 37 17 10231321 10231321 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 10231321 10231321 C A SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known missense c.2553 p.K851N 0.995 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 68 0 0 43 6 12.2449 ABR 0 genome.wustl.edu 37 17 1028590 1028590 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 1028590 1028590 C T SNP ABR ENST00000302538 human ensembl 74_37 -1 known silent c.174 p.P58 1.000 NULL pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors ABR HGNC ENSG00000159842 54 0 0 33 15 31.25 ABR 0 genome.wustl.edu 37 17 1028600 1028600 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 1028600 1028600 G A SNP ABR ENST00000302538 human ensembl 74_37 -1 known missense c.164 p.T55I 1.000 NULL pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors ABR HGNC ENSG00000159842 63 0 0 42 5 10.6383 MYH4 0 genome.wustl.edu 37 17 10353795 10353795 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 10353795 10353795 G A SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known missense c.4156 p.R1386C 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 142 0 0 103 30 22.5564 MYH2 0 genome.wustl.edu 37 17 10438444 10438444 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 10438444 10438444 C T SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.2126 p.R709H 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 98 0 0 72 20 21.7391 MYH2 0 genome.wustl.edu 37 17 10442798 10442798 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 10442798 10442798 C T SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.1229 p.G410D 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 188 0 0 141 31 18.0233 MYH3 0 genome.wustl.edu 37 17 10532947 10532947 + Silent SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 10532947 10532947 G T SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known silent c.5763 p.L1921 0.565 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 61 0 0 48 5 9.43396 MYH3 0 genome.wustl.edu 37 17 10554850 10554850 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 10554850 10554850 C T SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.484 p.A162T 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 MYH3 HGNC ENSG00000109063 235 0 0 171 16 8.55615 MYOCD 0 genome.wustl.edu 37 17 12656117 12656117 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 12656117 12656117 C T SNP MYOCD ENST00000425538 human ensembl 74_37 +1 known silent c.1512 p.G504 0.004 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 38 0 0 25 4 13.7931 MYOCD 0 genome.wustl.edu 37 17 12666430 12666430 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 12666430 12666430 A G SNP MYOCD ENST00000425538 human ensembl 74_37 +1 known silent c.2430 p.Q810 0.323 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 147 0 0 81 33 28.9474 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 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 88 0 0 98 24 19.6721 101928503 0 genome.wustl.edu 37 17 15469094 15469094 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 15469094 15469094 C T SNP 101928503 ENST00000312127 human ensembl 74_37 -1 known missense c.485 p.R162H 0.000 NULL NULL - no_errors CDRT1 Uniprot_gn ENSG00000181464 84 0 0 30 43 58.9041 TRIM16 0 genome.wustl.edu 37 17 15532000 15532000 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 15532000 15532000 C T SNP TRIM16 ENST00000336708 human ensembl 74_37 -1 known missense c.1624 p.A542T 0.006 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,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 37 0 0 31 5 13.8889 ZSWIM7 0 genome.wustl.edu 37 17 15881300 15881300 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 15881300 15881300 G A SNP ZSWIM7 ENST00000399280 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZSWIM7 HGNC ENSG00000214941 43 0 0 32 10 23.8095 NCOR1 0 genome.wustl.edu 37 17 15968937 15968937 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 15968937 15968937 C T SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known missense c.4813 p.A1605T 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 76 0 0 61 9 12.8571 NCOR1 0 genome.wustl.edu 37 17 15974755 15974755 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 15974755 15974755 T C SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known missense c.4120 p.T1374A 0.406 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 164 1 0.606061 120 33 21.5686 NCOR1 0 genome.wustl.edu 37 17 16024413 16024413 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 16024413 16024413 G A SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known missense c.1805 p.A602V 0.997 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 30 0 0 27 6 18.1818 WDR81 0 genome.wustl.edu 37 17 1634494 1634494 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 1634494 1634494 C T SNP WDR81 ENST00000409644 human ensembl 74_37 +1 known missense c.4099 p.R1367W 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 36 0 0 26 4 13.3333 WDR81 0 genome.wustl.edu 37 17 1636038 1636038 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 1636038 1636038 G A SNP WDR81 ENST00000409644 human ensembl 74_37 +1 known missense c.4402 p.V1468M 0.997 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 20 0 0 8 10 55.5556 ZNF624 0 genome.wustl.edu 37 17 16538059 16538059 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 16538059 16538059 T C SNP ZNF624 ENST00000311331 human ensembl 74_37 -1 known silent c.165 p.T55 0.913 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 ZNF624 HGNC ENSG00000197566 114 0 0 80 5 5.88235 USP32P1 0 genome.wustl.edu 37 17 16701462 16701462 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 16701462 16701462 C T SNP USP32P1 ENST00000341745 human ensembl 74_37 +1 known rna NULL NULL 0.470 - - - no_errors USP32P1 HGNC ENSG00000188933 22 0 0 18 4 18.1818 SMYD4 0 genome.wustl.edu 37 17 1703996 1703996 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 1703996 1703996 G A SNP SMYD4 ENST00000305513 human ensembl 74_37 -1 known missense c.692 p.A231V 0.434 NULL pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD4 HGNC ENSG00000186532 154 1 0.645161 145 8 5.22876 MPRIP 0 genome.wustl.edu 37 17 17062260 17062260 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 17062260 17062260 G A SNP MPRIP ENST00000395811 human ensembl 74_37 +1 known missense c.1990 p.E664K 0.972 NULL pfam_Pleckstrin_homology,superfamily_Ferritin-like_SF,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors MPRIP HGNC ENSG00000133030 26 0 0 20 5 20 TOM1L2 0 genome.wustl.edu 37 17 17766053 17766053 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 17766053 17766053 C T SNP TOM1L2 ENST00000379504 human ensembl 74_37 -1 known silent c.1194 p.Q398 0.870 pirsf_TOM1 pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1L2 HGNC ENSG00000175662 288 0 0 173 62 26.383 MYO15A 0 genome.wustl.edu 37 17 18039937 18039937 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 18039937 18039937 C T SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known silent c.4716 p.N1572 0.967 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 30 0 0 23 6 20.6897 MYO15A 0 genome.wustl.edu 37 17 18054496 18054496 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 18054496 18054496 G T SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.7546 p.A2516S 0.000 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 93 0 0 51 5 8.92857 TOP3A 0 genome.wustl.edu 37 17 18205934 18205934 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 18205934 18205934 G A SNP TOP3A ENST00000321105 human ensembl 74_37 -1 known silent c.603 p.S201 0.704 pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_2 pfam_Topo_IA_cen,pfam_Znf_GRF,pfam_Toprim_domain,pfam_Topo_IA_Znf,superfamily_Topo_IA_core_domain,superfamily_Znf_CCHC,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3A HGNC ENSG00000177302 68 0 0 42 14 25 KRT16P1 0 genome.wustl.edu 37 17 18345182 18345182 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 18345182 18345182 C T SNP KRT16P1 ENST00000581027 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors KRT16P1 HGNC ENSG00000214856 12 0 0 6 4 40 FBXW10 0 genome.wustl.edu 37 17 18668087 18668087 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 18668087 18668087 G A SNP FBXW10 ENST00000308799 human ensembl 74_37 +1 known missense c.1553 p.R518Q 0.913 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW10 HGNC ENSG00000171931 99 0 0 66 22 25 PRPSAP2 0 genome.wustl.edu 37 17 18770597 18770597 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 18770597 18770597 G A SNP PRPSAP2 ENST00000268835 human ensembl 74_37 +1 known missense c.122 p.R41Q 1.000 tigrfam_Rib-P_diPkinase tigrfam_Rib-P_diPkinase - no_errors PRPSAP2 HGNC ENSG00000141127 49 0 0 25 4 13.7931 PRPSAP2 0 genome.wustl.edu 37 17 18781095 18781095 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 18781095 18781095 A G SNP PRPSAP2 ENST00000268835 human ensembl 74_37 +1 known missense c.324 p.I108M 0.779 tigrfam_Rib-P_diPkinase tigrfam_Rib-P_diPkinase - no_errors PRPSAP2 HGNC ENSG00000141127 122 0 0 89 27 23.2759 MAPK7 0 genome.wustl.edu 37 17 19283208 19283208 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 19283208 19283208 G A SNP MAPK7 ENST00000308406 human ensembl 74_37 +1 known missense c.346 p.A116T 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 MAPK7 HGNC ENSG00000166484 96 0 0 90 10 10 MAPK7 0 genome.wustl.edu 37 17 19284190 19284190 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 19284190 19284190 C T SNP MAPK7 ENST00000308406 human ensembl 74_37 +1 known missense c.668 p.A223V 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 MAPK7 HGNC ENSG00000166484 31 0 0 12 10 45.4545 MAPK7 0 genome.wustl.edu 37 17 19286236 19286236 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 19286236 19286236 C T SNP MAPK7 ENST00000308406 human ensembl 74_37 +1 known silent c.2274 p.G758 0.352 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 MAPK7 HGNC ENSG00000166484 88 0 0 51 15 22.7273 SLC47A2 0 genome.wustl.edu 37 17 19584902 19584902 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 19584902 19584902 C T SNP SLC47A2 ENST00000325411 human ensembl 74_37 -1 known missense c.1354 p.G452S 0.919 pfam_MATE,tigrfam_MATE pfam_MATE,tigrfam_MATE - no_errors SLC47A2 HGNC ENSG00000180638 62 0 0 37 22 37.2881 SMG6 0 genome.wustl.edu 37 17 1964860 1964860 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 1964860 1964860 G A SNP SMG6 ENST00000263073 human ensembl 74_37 -1 known missense c.4186 p.R1396C 1.000 smart_PIN_dom pfam_EST1,smart_PIN_dom - no_errors SMG6 HGNC ENSG00000070366 11 0 0 4 3 42.8571 CCDC144CP 0 genome.wustl.edu 37 17 20224852 20224852 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 20224852 20224852 G A SNP CCDC144CP ENST00000340196 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors CCDC144CP HGNC ENSG00000154898 130 0 0 97 20 17.094 LOC440416 0 genome.wustl.edu 37 17 20884809 20884809 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 20884809 20884809 G A SNP LOC440416 ENST00000439794 human ensembl 74_37 +1 known rna NULL NULL 0.576 - - - no_errors RP11-344E13.3 Clone_based_vega_gene ENSG00000233098 12 0 0 8 3 27.2727 TMEM11 0 genome.wustl.edu 37 17 21101798 21101798 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 21101798 21101798 C T SNP TMEM11 ENST00000317635 human ensembl 74_37 -1 known missense c.418 p.A140T 1.000 NULL NULL - no_errors TMEM11 HGNC ENSG00000178307 60 0 0 54 4 6.89655 KCNJ12 0 genome.wustl.edu 37 17 21319358 21319358 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 21319358 21319358 C T SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known missense c.704 p.P235L 0.999 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 61 0 0 48 6 11.1111 SMG6 0 genome.wustl.edu 37 17 2202208 2202208 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 2202208 2202208 C T SNP SMG6 ENST00000263073 human ensembl 74_37 -1 known silent c.1839 p.A613 1.000 NULL pfam_EST1,smart_PIN_dom - no_errors SMG6 HGNC ENSG00000070366 223 0 0 172 14 7.52688 KSR1 0 genome.wustl.edu 37 17 25934953 25934953 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 25934953 25934953 C T SNP KSR1 ENST00000319524 human ensembl 74_37 +1 known missense c.2074 p.R692W 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,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC ENSG00000141068 15 0 0 9 5 35.7143 KSR1 0 genome.wustl.edu 37 17 25950388 25950388 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 25950388 25950388 C T SNP KSR1 ENST00000578981 human ensembl 74_37 +1 putative missense c.110 p.A37V 0.726 NULL NULL - no_errors KSR1 HGNC ENSG00000141068 27 0 0 17 8 32 CLUH 0 genome.wustl.edu 37 17 2605316 2605316 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 2605316 2605316 G A SNP CLUH ENST00000435359 human ensembl 74_37 -1 known missense c.397 p.R133C 1.000 NULL superfamily_GSKIP_dom - no_errors CLUH HGNC ENSG00000132361 38 0 0 25 3 10.7143 C17orf97 0 genome.wustl.edu 37 17 263122 263122 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 263122 263122 C T SNP C17orf97 ENST00000360127 human ensembl 74_37 +1 known missense c.488 p.A163V 0.002 NULL NULL - no_errors C17orf97 HGNC ENSG00000187624 107 0 0 60 30 33.3333 C17orf97 0 genome.wustl.edu 37 17 263194 263194 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 263194 263194 G A SNP C17orf97 ENST00000360127 human ensembl 74_37 +1 known missense c.560 p.R187H 0.894 NULL NULL - no_errors C17orf97 HGNC ENSG00000187624 77 0 0 59 23 28.0488 ALDOC 0 genome.wustl.edu 37 17 26900862 26900862 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 26900862 26900862 G A SNP ALDOC ENST00000226253 human ensembl 74_37 -1 known missense c.890 p.A297V 1.000 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOC HGNC ENSG00000109107 73 0 0 55 18 24.6575 SPAG5-AS1 0 genome.wustl.edu 37 17 26944355 26944355 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 26944355 26944355 C T SNP SPAG5-AS1 ENST00000414744 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPAG5-AS1 HGNC ENSG00000227543 42 0 0 45 5 10 ERAL1 0 genome.wustl.edu 37 17 27187476 27187476 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 27187476 27187476 G A SNP ERAL1 ENST00000254928 human ensembl 74_37 +1 known missense c.1219 p.V407M 0.000 superfamily_KH_prok-type pfam_GTP_binding_domain,pfam_MIRO-like,pfam_Dynamin_GTPase,pfam_AIG1,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,superfamily_KH_prok-type,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors ERAL1 HGNC ENSG00000132591 92 0 0 53 29 35.3659 CPD 0 genome.wustl.edu 37 17 28754503 28754503 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 28754503 28754503 G A SNP CPD ENST00000225719 human ensembl 74_37 +1 known silent c.1944 p.T648 0.820 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPD HGNC ENSG00000108582 128 0 0 99 34 25.5639 RAP1GAP2 0 genome.wustl.edu 37 17 2898752 2898752 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 2898752 2898752 G A SNP RAP1GAP2 ENST00000254695 human ensembl 74_37 +1 known missense c.1036 p.A346T 0.998 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom - no_errors RAP1GAP2 HGNC ENSG00000132359 44 0 0 30 15 33.3333 EVI2A 0 genome.wustl.edu 37 17 29645508 29645508 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 29645508 29645508 C T SNP EVI2A ENST00000247270 human ensembl 74_37 -1 known missense c.593 p.R198H 0.999 pfam_Ectropic_vir_integratn_site_2A,pirsf_Ectropic_vir_integratn_site_2A pfam_Ectropic_vir_integratn_site_2A,pirsf_Ectropic_vir_integratn_site_2A - no_errors EVI2A HGNC ENSG00000126860 59 0 0 45 11 19.6429 EVI2A 0 genome.wustl.edu 37 17 29645522 29645522 + Missense_Mutation SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 29645522 29645522 T A SNP EVI2A ENST00000247270 human ensembl 74_37 -1 known missense c.579 p.K193N 0.991 pfam_Ectropic_vir_integratn_site_2A,pirsf_Ectropic_vir_integratn_site_2A pfam_Ectropic_vir_integratn_site_2A,pirsf_Ectropic_vir_integratn_site_2A - no_errors EVI2A HGNC ENSG00000126860 62 0 0 45 13 22.4138 OR1D5 0 genome.wustl.edu 37 17 2966556 2966556 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 2966556 2966556 C T SNP OR1D5 ENST00000575751 human ensembl 74_37 -1 known missense c.346 p.A116T 0.828 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 OR1D5 HGNC ENSG00000262628 31 0 0 19 14 42.4242 OR1G1 0 genome.wustl.edu 37 17 3030350 3030350 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 3030350 3030350 G A SNP OR1G1 ENST00000328890 human ensembl 74_37 -1 known silent c.496 p.L166 0.101 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1G1 HGNC ENSG00000183024 160 0 0 97 41 29.7101 MYO1D 0 genome.wustl.edu 37 17 31087608 31087608 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 31087608 31087608 C T SNP MYO1D ENST00000318217 human ensembl 74_37 -1 known missense c.1073 p.R358H 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1D HGNC ENSG00000176658 96 0 0 84 5 5.61798 MYO1D 0 genome.wustl.edu 37 17 31087632 31087632 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 31087632 31087632 C T SNP MYO1D ENST00000318217 human ensembl 74_37 -1 known missense c.1049 p.R350H 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1D HGNC ENSG00000176658 95 0 0 73 22 23.1579 OR3A2 0 genome.wustl.edu 37 17 3181297 3181297 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 3181297 3181297 C T SNP OR3A2 ENST00000408891 human ensembl 74_37 -1 known nonsense c.933 p.W311* 0.003 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR3A2 HGNC ENSG00000221882 99 0 0 55 21 27.6316 OR3A3 0 genome.wustl.edu 37 17 3324325 3324325 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 3324325 3324325 C A SNP OR3A3 ENST00000291231 human ensembl 74_37 +1 known missense c.464 p.A155D 0.077 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 OR3A3 HGNC ENSG00000159961 132 0 0 83 30 26.5487 CCT6B 0 genome.wustl.edu 37 17 33266272 33266272 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 33266272 33266272 C A SNP CCT6B ENST00000314144 human ensembl 74_37 -1 known missense c.1143 p.K381N 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,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 CCT6B HGNC ENSG00000132141 162 0 0 118 25 17.4825 LIG3 0 genome.wustl.edu 37 17 33326437 33326437 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 33326437 33326437 A G SNP LIG3 ENST00000378526 human ensembl 74_37 +1 known missense c.2225 p.Q742R 1.000 pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG3 HGNC ENSG00000005156 33 0 0 33 5 13.1579 OR1E2 0 genome.wustl.edu 37 17 3336709 3336709 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 3336709 3336709 C T SNP OR1E2 ENST00000248384 human ensembl 74_37 -1 known missense c.427 p.A143T 0.008 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 OR1E2 HGNC ENSG00000127780 67 0 0 33 15 31.25 SLFN5 0 genome.wustl.edu 37 17 33586592 33586592 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 33586592 33586592 G A SNP SLFN5 ENST00000299977 human ensembl 74_37 +1 known missense c.883 p.A295T 0.353 pfam_ATPase_AAA-4 pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN5 HGNC ENSG00000166750 155 0 0 124 17 12.0567 SLFN5 0 genome.wustl.edu 37 17 33591298 33591298 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 33591298 33591298 G A SNP SLFN5 ENST00000299977 human ensembl 74_37 +1 known missense c.1235 p.R412H 0.018 NULL pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN5 HGNC ENSG00000166750 124 0 0 82 21 20.3883 RASL10B 0 genome.wustl.edu 37 17 34068171 34068171 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 34068171 34068171 C T SNP RASL10B ENST00000268864 human ensembl 74_37 +1 known silent c.459 p.C153 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RASL10B HGNC ENSG00000141150 40 0 0 22 13 37.1429 MMP28 0 genome.wustl.edu 37 17 34106032 34106032 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 34106032 34106032 C T SNP MMP28 ENST00000587639 human ensembl 74_37 -1 known missense c.239 p.R80H 0.001 pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like - no_errors MMP28 HGNC ENSG00000129270 45 0 0 30 13 30.2326 TRPV1 0 genome.wustl.edu 37 17 3476959 3476959 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 3476959 3476959 C T SNP TRPV1 ENST00000399756 human ensembl 74_37 -1 known missense c.2071 p.A691T 0.921 tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV1 HGNC ENSG00000196689 45 0 0 39 6 13.3333 TRPV1 0 genome.wustl.edu 37 17 3489183 3489183 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 3489183 3489183 C T SNP TRPV1 ENST00000399756 human ensembl 74_37 -1 known missense c.1262 p.R421Q 0.991 prints_TRPV1-4_channel,tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV1 HGNC ENSG00000196689 48 0 0 22 13 37.1429 ACACA 0 genome.wustl.edu 37 17 35478337 35478337 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 35478337 35478337 G A SNP ACACA ENST00000353139 human ensembl 74_37 -1 known missense c.6214 p.R2072W 1.000 pfam_Carboxyl_trans,pfscan_COA_CT_C pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 130 0 0 97 7 6.73077 ACACA 0 genome.wustl.edu 37 17 35603887 35603887 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 35603887 35603887 C T SNP ACACA ENST00000353139 human ensembl 74_37 -1 known missense c.2315 p.R772H 1.000 NULL pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 126 0 0 106 10 8.62069 HNF1B 0 genome.wustl.edu 37 17 36099531 36099531 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 36099531 36099531 C T SNP HNF1B ENST00000225893 human ensembl 74_37 -1 known silent c.444 p.S148 0.006 pfam_HNF-1_N,superfamily_Lambda_DNA-bd_dom pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HNF1B HGNC ENSG00000108753 66 0 0 50 5 9.09091 ITGAE 0 genome.wustl.edu 37 17 3665218 3665218 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 3665218 3665218 G A SNP ITGAE ENST00000263087 human ensembl 74_37 -1 known silent c.306 p.H102 0.095 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAE HGNC ENSG00000083457 28 0 0 23 8 25.8065 MED1 0 genome.wustl.edu 37 17 37565282 37565282 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 37565282 37565282 A G SNP MED1 ENST00000300651 human ensembl 74_37 -1 known silent c.3192 p.T1064 0.980 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 114 0 0 113 6 5.04202 CAMKK1 0 genome.wustl.edu 37 17 3773157 3773157 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 3773157 3773157 C T SNP CAMKK1 ENST00000381771 human ensembl 74_37 -1 known missense c.1264 p.D422N 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 CAMKK1 HGNC ENSG00000004660 76 0 0 43 18 29.5082 IKZF3 0 genome.wustl.edu 37 17 37948990 37948990 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 37948990 37948990 G A SNP IKZF3 ENST00000346872 human ensembl 74_37 -1 known silent c.360 p.C120 0.550 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF3 HGNC ENSG00000161405 103 0 0 87 32 26.8908 CDC6 0 genome.wustl.edu 37 17 38450699 38450699 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 38450699 38450699 T C SNP CDC6 ENST00000209728 human ensembl 74_37 +1 known missense c.1027 p.F343L 1.000 superfamily_P-loop_NTPase,pirsf_Cell_div_Cdc6/18 pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Cell_div_Cdc6/18 - no_errors CDC6 HGNC ENSG00000094804 99 0 0 71 9 11.25 TOP2A 0 genome.wustl.edu 37 17 38557134 38557134 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 38557134 38557134 G A SNP TOP2A ENST00000423485 human ensembl 74_37 -1 known missense c.2632 p.R878C 0.993 pfam_Topo_IIA_A/C,superfamily_Topo_IIA_like_dom,smart_Topo_IIA_A/C pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2A HGNC ENSG00000131747 304 0 0 195 66 25.2874 KRT222 0 genome.wustl.edu 37 17 38818220 38818220 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 38818220 38818220 G A SNP KRT222 ENST00000394052 human ensembl 74_37 -1 known missense c.173 p.A58V 1.000 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT222 HGNC ENSG00000213424 171 0 0 160 12 6.97674 KRT27 0 genome.wustl.edu 37 17 38936056 38936056 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 38936056 38936056 C A SNP KRT27 ENST00000301656 human ensembl 74_37 -1 known missense c.742 p.A248S 0.998 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT27 HGNC ENSG00000171446 54 0 0 39 14 26.4151 KRTAP1-3 0 genome.wustl.edu 37 17 39191019 39191019 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 39191019 39191019 T C SNP KRTAP1-3 ENST00000344363 human ensembl 74_37 -1 known missense c.55 p.T19A 0.927 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP1-3 HGNC ENSG00000221880 41 0 0 28 5 15.1515 KRTAP4-8 0 genome.wustl.edu 37 17 39254140 39254140 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 39254140 39254140 C T SNP KRTAP4-8 ENST00000333822 human ensembl 74_37 -1 known missense c.197 p.R66H 0.000 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-8 HGNC ENSG00000204880 37 0 0 19 13 40.625 KRTAP4-6 0 genome.wustl.edu 37 17 39296288 39296288 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 39296288 39296288 C T SNP KRTAP4-6 ENST00000345847 human ensembl 74_37 -1 known missense c.452 p.R151H 0.004 NULL pfam_Keratin-assoc - no_errors KRTAP4-6 HGNC ENSG00000198090 31 0 0 25 6 19.3548 KRT33A 0 genome.wustl.edu 37 17 39502732 39502732 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 39502732 39502732 C T SNP KRT33A ENST00000007735 human ensembl 74_37 -1 known silent c.1065 p.T355 0.915 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT33A HGNC ENSG00000006059 103 0 0 77 10 11.4943 KRT36 0 genome.wustl.edu 37 17 39645870 39645870 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 39645870 39645870 A G SNP KRT36 ENST00000328119 human ensembl 74_37 -1 known missense c.247 p.W83R 0.723 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT36 HGNC ENSG00000126337 72 0 0 52 5 8.77193 KRT13 0 genome.wustl.edu 37 17 39658842 39658842 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 39658842 39658842 G A SNP KRT13 ENST00000246635 human ensembl 74_37 -1 known missense c.1028 p.A343V 0.747 pfam_IF,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT13 HGNC ENSG00000171401 74 0 0 48 24 33.3333 KRT13 0 genome.wustl.edu 37 17 39661466 39661466 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 39661466 39661466 C T SNP KRT13 ENST00000246635 human ensembl 74_37 -1 known missense c.337 p.D113N 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT13 HGNC ENSG00000171401 109 0 0 83 20 19.4175 KAT2A 0 genome.wustl.edu 37 17 40265766 40265766 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 40265766 40265766 G A SNP KAT2A ENST00000225916 human ensembl 74_37 -1 known silent c.2415 p.R805 0.139 pirsf_Hist_acetylase_PCAF,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom,prints_Bromodomain - no_errors KAT2A HGNC ENSG00000108773 50 0 0 30 11 26.8293 RAB5C 0 genome.wustl.edu 37 17 40280741 40280741 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 40280741 40280741 G A SNP RAB5C ENST00000346213 human ensembl 74_37 -1 known missense c.244 p.R82W 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 RAB5C HGNC ENSG00000108774 54 0 0 39 10 20.4082 GHDC 0 genome.wustl.edu 37 17 40344954 40344954 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 40344954 40344954 T C SNP GHDC ENST00000301671 human ensembl 74_37 -1 known silent c.357 p.S119 0.000 NULL pfam_GH3 - no_errors GHDC HGNC ENSG00000167925 131 0 0 89 5 5.31915 STAT3 0 genome.wustl.edu 37 17 40476753 40476753 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 40476753 40476753 T C SNP STAT3 ENST00000264657 human ensembl 74_37 -1 known missense c.1576 p.T526A 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,pfscan_SH2 - no_errors STAT3 HGNC ENSG00000168610 37 0 0 20 10 33.3333 STAT3 0 genome.wustl.edu 37 17 40489528 40489528 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 40489528 40489528 G T SNP STAT3 ENST00000264657 human ensembl 74_37 -1 known missense c.722 p.A241D 0.999 pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil 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 STAT3 HGNC ENSG00000168610 88 0 0 49 27 35.5263 CNTNAP1 0 genome.wustl.edu 37 17 40845456 40845456 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 40845456 40845456 G A SNP CNTNAP1 ENST00000264638 human ensembl 74_37 +1 known missense c.2894 p.R965Q 0.000 pfscan_EG-like_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 81 0 0 41 18 30.5085 WNK4 0 genome.wustl.edu 37 17 40947525 40947525 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 40947525 40947525 C T SNP WNK4 ENST00000246914 human ensembl 74_37 +1 known missense c.3008 p.A1003V 0.522 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 51 0 0 36 16 30.7692 CNTD1 0 genome.wustl.edu 37 17 40958800 40958800 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 40958800 40958800 C T SNP CNTD1 ENST00000588408 human ensembl 74_37 +1 known missense c.689 p.A230V 0.712 NULL pfam_Cyclin_N,superfamily_Cyclin-like - no_errors CNTD1 HGNC ENSG00000176563 83 0 0 82 11 11.828 MPP3 0 genome.wustl.edu 37 17 41891392 41891392 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 41891392 41891392 G A SNP MPP3 ENST00000398389 human ensembl 74_37 -1 known silent c.1242 p.G414 0.141 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP3 HGNC ENSG00000161647 137 0 0 79 34 30.0885 C17orf53 0 genome.wustl.edu 37 17 42232005 42232005 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 42232005 42232005 G A SNP C17orf53 ENST00000319977 human ensembl 74_37 +1 known missense c.1534 p.A512T 1.000 NULL NULL - no_errors C17orf53 HGNC ENSG00000125319 93 0 0 54 6 10 SLC4A1 0 genome.wustl.edu 37 17 42335832 42335832 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 42335832 42335832 G A SNP SLC4A1 ENST00000262418 human ensembl 74_37 -1 known missense c.1036 p.R346C 0.579 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 120 0 0 60 21 25.9259 GPATCH8 0 genome.wustl.edu 37 17 42476588 42476588 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 42476588 42476588 G A SNP GPATCH8 ENST00000591680 human ensembl 74_37 -1 known missense c.2857 p.R953C 1.000 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 74 0 0 34 12 26.087 GPATCH8 0 genome.wustl.edu 37 17 42476724 42476724 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 42476724 42476724 G A SNP GPATCH8 ENST00000591680 human ensembl 74_37 -1 known silent c.2721 p.R907 0.334 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 73 0 0 38 12 24 GPATCH8 0 genome.wustl.edu 37 17 42580708 42580708 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 42580708 42580708 C T SNP GPATCH8 ENST00000591680 human ensembl 74_37 -1 known missense c.31 p.D11N 1.000 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 10 0 0 7 7 50 EFTUD2 0 genome.wustl.edu 37 17 42956967 42956967 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 42956967 42956967 C T SNP EFTUD2 ENST00000426333 human ensembl 74_37 -1 known missense c.659 p.R220H 1.000 pfam_EF_GTP-bd_dom,pfam_MIRO-like,superfamily_P-loop_NTPase,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,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 EFTUD2 HGNC ENSG00000108883 102 0 0 61 23 27.381 FMNL1 0 genome.wustl.edu 37 17 43315992 43315992 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 43315992 43315992 A G SNP FMNL1 ENST00000328118 human ensembl 74_37 +1 known missense c.956 p.N319S 1.000 pfam_FH3_dom,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL1 HGNC ENSG00000184922 51 0 0 50 13 20.6349 MAP3K14 0 genome.wustl.edu 37 17 43351908 43351908 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 43351908 43351908 G A SNP MAP3K14 ENST00000344686 human ensembl 74_37 -1 known rna NULL NULL 0.982 - - - no_errors MAP3K14 HGNC ENSG00000006062 41 0 0 27 4 12.9032 KANSL1 0 genome.wustl.edu 37 17 44115975 44115975 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 44115975 44115975 G A SNP KANSL1 ENST00000262419 human ensembl 74_37 -1 known nonsense c.2470 p.R824* 1.000 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 64 0 0 26 15 36.5854 WNT3 0 genome.wustl.edu 37 17 44846086 44846086 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 44846086 44846086 G A SNP WNT3 ENST00000225512 human ensembl 74_37 -1 known missense c.668 p.A223V 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt3 - no_errors WNT3 HGNC ENSG00000108379 68 0 0 50 11 18.0328 WNT3 0 genome.wustl.edu 37 17 44851186 44851186 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 44851186 44851186 C T SNP WNT3 ENST00000225512 human ensembl 74_37 -1 known missense c.170 p.R57H 0.998 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt3 - no_errors WNT3 HGNC ENSG00000108379 30 0 0 14 9 39.1304 ITGB3 0 genome.wustl.edu 37 17 45368350 45368350 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 45368350 45368350 C T SNP ITGB3 ENST00000559488 human ensembl 74_37 +1 known missense c.1156 p.R386C 0.993 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB3 HGNC ENSG00000259207 119 1 0.833333 68 26 27.6596 SCRN2 0 genome.wustl.edu 37 17 45915694 45915694 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 45915694 45915694 C T SNP SCRN2 ENST00000290216 human ensembl 74_37 -1 known missense c.1061 p.R354H 1.000 NULL pfam_Peptidase_C69,pfam_Pept_C45_AAT - no_errors SCRN2 HGNC ENSG00000141295 80 0 0 33 27 45 HOXB1 0 genome.wustl.edu 37 17 46607897 46607897 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 46607897 46607897 A G SNP HOXB1 ENST00000239174 human ensembl 74_37 -1 known missense c.370 p.S124P 0.398 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB1 HGNC ENSG00000120094 47 0 0 32 7 17.9487 PLD2 0 genome.wustl.edu 37 17 4713066 4713066 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 4713066 4713066 G A SNP PLD2 ENST00000263088 human ensembl 74_37 +1 known missense c.695 p.R232H 1.000 smart_Pleckstrin_homology,pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD2 HGNC ENSG00000129219 115 0 0 62 24 27.907 PLD2 0 genome.wustl.edu 37 17 4718853 4718853 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 4718853 4718853 C T SNP PLD2 ENST00000263088 human ensembl 74_37 +1 known missense c.1256 p.A419V 0.753 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD2 HGNC ENSG00000129219 183 0 0 124 47 27.4854 B4GALNT2 0 genome.wustl.edu 37 17 47247084 47247084 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 47247084 47247084 C T SNP B4GALNT2 ENST00000300404 human ensembl 74_37 +1 known silent c.1695 p.A565 0.000 pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT2 HGNC ENSG00000167080 54 0 0 41 4 8.88889 ABI3 0 genome.wustl.edu 37 17 47295191 47295191 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 47295191 47295191 G A SNP ABI3 ENST00000225941 human ensembl 74_37 +1 known missense c.376 p.A126T 0.994 pfam_Abl-interactor_HHR_dom pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors ABI3 HGNC ENSG00000108798 48 0 0 25 11 30.5556 PHB 0 genome.wustl.edu 37 17 47486737 47486737 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 47486737 47486737 G A SNP PHB ENST00000300408 human ensembl 74_37 -1 known missense c.349 p.R117C 1.000 pfam_Band_7,smart_Band_7,prints_Prohibitin pfam_Band_7,smart_Band_7,prints_Prohibitin - no_errors PHB HGNC ENSG00000167085 55 0 0 20 14 41.1765 NGFR 0 genome.wustl.edu 37 17 47583719 47583719 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 47583719 47583719 C T SNP NGFR ENST00000172229 human ensembl 74_37 +1 known silent c.267 p.C89 1.000 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_16 pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_16 - no_errors NGFR HGNC ENSG00000064300 28 0 0 9 6 40 KAT7 0 genome.wustl.edu 37 17 47898713 47898713 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 47898713 47898713 G A SNP KAT7 ENST00000259021 human ensembl 74_37 +1 known nonsense c.1170 p.W390* 1.000 pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase pfam_MOZ_SAS,pfam_Znf_C2HC,superfamily_Acyl_CoA_acyltransferase - no_errors KAT7 HGNC ENSG00000136504 74 0 0 38 11 22.449 ITGA3 0 genome.wustl.edu 37 17 48145498 48145498 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 48145498 48145498 C T SNP ITGA3 ENST00000320031 human ensembl 74_37 +1 known nonsense c.493 p.R165* 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA3 HGNC ENSG00000005884 109 0 0 83 9 9.78261 PPP1R9B 0 genome.wustl.edu 37 17 48212980 48212980 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 48212980 48212980 G A SNP PPP1R9B ENST00000316878 human ensembl 74_37 -1 known missense c.2332 p.R778C 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PPP1R9B HGNC ENSG00000108819 18 0 0 9 6 40 COL1A1 0 genome.wustl.edu 37 17 48274561 48274561 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 48274561 48274561 G A SNP COL1A1 ENST00000225964 human ensembl 74_37 -1 known missense c.730 p.R244C 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC ENSG00000108821 59 0 0 32 15 31.9149 XYLT2 0 genome.wustl.edu 37 17 48433538 48433538 + Silent SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 48433538 48433538 C A SNP XYLT2 ENST00000017003 human ensembl 74_37 +1 known silent c.1398 p.G466 1.000 pfam_Glyco_trans_14 pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 64 0 0 47 8 14.5455 EPN3 0 genome.wustl.edu 37 17 48614339 48614339 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 48614339 48614339 G A SNP EPN3 ENST00000537145 human ensembl 74_37 +1 known missense c.587 p.R196Q 1.000 superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN3 HGNC ENSG00000049283 30 0 0 16 5 23.8095 ABCC3 0 genome.wustl.edu 37 17 48755223 48755223 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 48755223 48755223 G A SNP ABCC3 ENST00000285238 human ensembl 74_37 +1 known missense c.3497 p.R1166H 0.687 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 ABCC3 HGNC ENSG00000108846 172 0 0 130 9 6.47482 SPAG9 0 genome.wustl.edu 37 17 49091605 49091605 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 49091605 49091605 C A SNP SPAG9 ENST00000262013 human ensembl 74_37 -1 known missense c.1201 p.A401S 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors SPAG9 HGNC ENSG00000008294 75 0 0 103 6 5.50459 SPAG9 0 genome.wustl.edu 37 17 49119004 49119004 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 49119004 49119004 C T SNP SPAG9 ENST00000262013 human ensembl 74_37 -1 known missense c.599 p.R200H 0.989 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors SPAG9 HGNC ENSG00000008294 127 0 0 86 31 26.4957 KIF1C 0 genome.wustl.edu 37 17 4917019 4917019 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 4917019 4917019 C T SNP KIF1C ENST00000320785 human ensembl 74_37 +1 known silent c.1563 p.G521 0.002 superfamily_SMAD_FHA_domain 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 35 0 0 28 5 15.1515 USP6 0 genome.wustl.edu 37 17 5041523 5041523 + Missense_Mutation SNP T T G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 5041523 5041523 T G SNP USP6 ENST00000250066 human ensembl 74_37 +1 known missense c.1033 p.S345A 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Peptidase_C19/C67,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19/C67 - no_errors USP6 HGNC ENSG00000129204 133 0 0 111 9 7.5 KIF2B 0 genome.wustl.edu 37 17 51901021 51901021 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 51901021 51901021 G A SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known silent c.627 p.P209 0.000 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 KIF2B HGNC ENSG00000141200 56 0 0 41 15 26.7857 RABEP1 0 genome.wustl.edu 37 17 5264866 5264866 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 5264866 5264866 G T SNP RABEP1 ENST00000262477 human ensembl 74_37 +1 known missense c.1459 p.A487S 0.998 pfam_Rabaptin_coiled-coil,prints_Rabaptin pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin - no_errors RABEP1 HGNC ENSG00000029725 95 0 0 68 24 26.087 VPS53 0 genome.wustl.edu 37 17 526892 526892 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 526892 526892 G A SNP VPS53 ENST00000437048 human ensembl 74_37 -1 known missense c.997 p.R333C 1.000 pfam_Vps53_N pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS53 HGNC ENSG00000141252 66 0 0 40 12 23.0769 RABEP1 0 genome.wustl.edu 37 17 5280477 5280477 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 5280477 5280477 G A SNP RABEP1 ENST00000262477 human ensembl 74_37 +1 known missense c.2092 p.V698I 0.949 pfam_Rabaptin_Rab5-bd_dom pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin - no_errors RABEP1 HGNC ENSG00000029725 156 0 0 121 56 31.6384 NUP88 0 genome.wustl.edu 37 17 5312224 5312224 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 5312224 5312224 G A SNP NUP88 ENST00000573584 human ensembl 74_37 -1 known missense c.686 p.A229V 0.985 pfam_Nucleoporin_Nup88 pfam_Nucleoporin_Nup88 - no_errors NUP88 HGNC ENSG00000108559 56 0 0 41 14 25.4545 DHX33 0 genome.wustl.edu 37 17 5365851 5365851 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 5365851 5365851 G A SNP DHX33 ENST00000225296 human ensembl 74_37 -1 known missense c.466 p.R156C 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_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX33 HGNC ENSG00000005100 126 0 0 83 7 7.77778 TMEM100 0 genome.wustl.edu 37 17 53798230 53798230 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 53798230 53798230 C T SNP TMEM100 ENST00000424486 human ensembl 74_37 -1 known missense c.202 p.G68S 0.998 NULL NULL - no_errors TMEM100 HGNC ENSG00000166292 128 0 0 72 33 31.4286 NLRP1 0 genome.wustl.edu 37 17 5436264 5436264 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 5436264 5436264 G A SNP NLRP1 ENST00000572272 human ensembl 74_37 -1 known silent c.3174 p.C1058 0.000 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 28 0 0 29 6 17.1429 DGKE 0 genome.wustl.edu 37 17 54925404 54925404 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 54925404 54925404 C T SNP DGKE ENST00000284061 human ensembl 74_37 +1 known missense c.866 p.A289V 1.000 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKE HGNC ENSG00000153933 61 0 0 58 4 6.45161 TRIM25 0 genome.wustl.edu 37 17 54976496 54976496 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 54976496 54976496 C T SNP TRIM25 ENST00000316881 human ensembl 74_37 -1 known missense c.1133 p.R378H 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM25 HGNC ENSG00000121060 66 0 0 45 13 22.4138 LPO 0 genome.wustl.edu 37 17 56326511 56326511 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 56326511 56326511 G A SNP LPO ENST00000262290 human ensembl 74_37 +1 known missense c.416 p.R139H 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors LPO HGNC ENSG00000167419 66 0 0 32 19 37.2549 PPM1E 0 genome.wustl.edu 37 17 57058136 57058136 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 57058136 57058136 G A SNP PPM1E ENST00000308249 human ensembl 74_37 +1 known missense c.2012 p.R671H 0.457 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1E HGNC ENSG00000175175 208 0 0 175 58 24.8927 CLTC 0 genome.wustl.edu 37 17 57725723 57725723 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 57725723 57725723 G A SNP CLTC ENST00000269122 human ensembl 74_37 +1 known silent c.642 p.T214 0.023 pfam_Clathrin_H-chain_propeller_rpt,superfamily_Clathrin_H-chain_propeller_N,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTC HGNC ENSG00000141367 151 0 0 99 45 31.25 USP32 0 genome.wustl.edu 37 17 58365944 58365944 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 58365944 58365944 T C SNP USP32 ENST00000300896 human ensembl 74_37 -1 known missense c.511 p.T171A 1.000 NULL pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_EF_hand_dom,smart_Pept_C19_DUSP,pfscan_EF_hand_dom,pfscan_Peptidase_C19/C67,prints_Recoverin - no_errors USP32 HGNC ENSG00000170832 159 0 0 90 28 23.7288 PPM1D 0 genome.wustl.edu 37 17 58740851 58740851 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 58740851 58740851 G A SNP PPM1D ENST00000305921 human ensembl 74_37 +1 known missense c.1756 p.G586S 1.000 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1D HGNC ENSG00000170836 119 0 0 85 7 7.6087 ENSG00000267449 0 genome.wustl.edu 37 17 59147236 59147236 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 59147236 59147236 C T SNP ENSG00000267449 ENST00000593107 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-264B14.2 Clone_based_vega_gene ENSG00000267449 64 0 0 36 14 28 BCAS3 0 genome.wustl.edu 37 17 59155837 59155837 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 59155837 59155837 G A SNP BCAS3 ENST00000390652 human ensembl 74_37 +1 known silent c.2319 p.T773 1.000 NULL pfam_BCAS3,pfam_WD40_repeat - no_errors BCAS3 HGNC ENSG00000141376 50 0 0 46 6 11.5385 INTS2 0 genome.wustl.edu 37 17 59971251 59971251 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 59971251 59971251 C T SNP INTS2 ENST00000444766 human ensembl 74_37 -1 known missense c.1597 p.A533T 1.000 NULL NULL - no_errors INTS2 HGNC ENSG00000108506 17 0 0 11 5 31.25 WSCD1 0 genome.wustl.edu 37 17 6023723 6023723 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 6023723 6023723 C T SNP WSCD1 ENST00000317744 human ensembl 74_37 +1 known silent c.1470 p.Y490 0.935 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_WSC_carb-bd,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD1 HGNC ENSG00000179314 95 0 0 63 24 27.5862 TLK2 0 genome.wustl.edu 37 17 60673966 60673966 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 60673966 60673966 G A SNP TLK2 ENST00000326270 human ensembl 74_37 +1 known missense c.1547 p.R516Q 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 TLK2 HGNC ENSG00000146872 170 0 0 129 28 17.8344 MARCH10 0 genome.wustl.edu 37 17 60879031 60879031 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 60879031 60879031 C T SNP MARCH10 ENST00000311269 human ensembl 74_37 -1 known silent c.66 p.Q22 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH10 HGNC ENSG00000173838 148 0 0 90 23 20.354 ACE 0 genome.wustl.edu 37 17 61559950 61559950 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 61559950 61559950 C T SNP ACE ENST00000290866 human ensembl 74_37 +1 known silent c.1242 p.P414 0.621 pfam_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE HGNC ENSG00000159640 66 0 0 58 14 19.4444 ACE 0 genome.wustl.edu 37 17 61571353 61571353 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 61571353 61571353 C T SNP ACE ENST00000290866 human ensembl 74_37 +1 known silent c.3207 p.V1069 0.299 pfam_Peptidase_M2,prints_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE HGNC ENSG00000159640 53 0 0 44 16 26.6667 KCNH6 0 genome.wustl.edu 37 17 61611628 61611628 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 61611628 61611628 G A SNP KCNH6 ENST00000583023 human ensembl 74_37 +1 known missense c.1057 p.A353T 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom - no_errors KCNH6 HGNC ENSG00000173826 76 0 0 47 20 29.8507 DCAF7 0 genome.wustl.edu 37 17 61666545 61666545 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 61666545 61666545 G A SNP DCAF7 ENST00000577702 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DCAF7 HGNC ENSG00000136485 69 0 0 29 13 30.9524 DDX42 0 genome.wustl.edu 37 17 61895700 61895700 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 61895700 61895700 C T SNP DDX42 ENST00000389924 human ensembl 74_37 +1 known missense c.2759 p.A920V 0.983 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX42 HGNC ENSG00000198231 102 0 0 62 25 28.7356 FTSJ3 0 genome.wustl.edu 37 17 61897319 61897319 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 61897319 61897319 C T SNP FTSJ3 ENST00000427159 human ensembl 74_37 -1 known missense c.2387 p.R796H 1.000 pfam_rRNA_MeTfrase_Spb1_C pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381 - no_errors FTSJ3 HGNC ENSG00000108592 70 0 0 50 15 23.0769 CSH1 0 genome.wustl.edu 37 17 61972426 61972426 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 61972426 61972426 G A SNP CSH1 ENST00000316193 human ensembl 74_37 -1 known missense c.610 p.R204C 1.000 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors CSH1 HGNC ENSG00000136488 81 0 0 63 14 18.1818 SCN4A 0 genome.wustl.edu 37 17 62026054 62026054 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 62026054 62026054 G A SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known missense c.3061 p.R1021C 0.925 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 32 0 0 19 4 17.3913 SMURF2 0 genome.wustl.edu 37 17 62574630 62574630 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 62574630 62574630 C T SNP SMURF2 ENST00000262435 human ensembl 74_37 -1 known nonsense c.837 p.W279* 1.000 pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom 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 59 0 0 56 5 8.19672 RGS9 0 genome.wustl.edu 37 17 63221135 63221135 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 63221135 63221135 G T SNP RGS9 ENST00000262406 human ensembl 74_37 +1 known missense c.1423 p.A475S 0.006 NULL pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS9 HGNC ENSG00000108370 80 0 0 79 7 8.13953 PITPNM3 0 genome.wustl.edu 37 17 6358942 6358942 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 6358942 6358942 C T SNP PITPNM3 ENST00000262483 human ensembl 74_37 -1 known missense c.2641 p.A881T 0.089 NULL pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC ENSG00000091622 11 0 0 8 7 46.6667 GEMIN4 0 genome.wustl.edu 37 17 650203 650203 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 650203 650203 C T SNP GEMIN4 ENST00000319004 human ensembl 74_37 -1 known silent c.1080 p.T360 0.003 NULL NULL - no_errors GEMIN4 HGNC ENSG00000179409 90 0 0 34 14 29.1667 TXNDC17 0 genome.wustl.edu 37 17 6544532 6544532 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 6544532 6544532 C T SNP TXNDC17 ENST00000250101 human ensembl 74_37 +1 known missense c.130 p.P44S 1.000 pfam_DUF953_thioredox,superfamily_Thioredoxin-like_fold pfam_DUF953_thioredox,superfamily_Thioredoxin-like_fold - no_errors TXNDC17 HGNC ENSG00000129235 42 0 0 24 12 33.3333 BPTF 0 genome.wustl.edu 37 17 65850239 65850239 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 65850239 65850239 G A SNP BPTF ENST00000321892 human ensembl 74_37 +1 known missense c.797 p.R266H 1.000 pfam_DDT_dom,smart_DDT_dom_subgr,pfscan_DDT_dom_superfamily pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 132 0 0 91 29 24.1667 BPTF 0 genome.wustl.edu 37 17 65908478 65908478 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 65908478 65908478 C T SNP BPTF ENST00000321892 human ensembl 74_37 +1 known missense c.4856 p.A1619V 0.133 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 107 0 0 71 26 26.8041 BPTF 0 genome.wustl.edu 37 17 65916176 65916176 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 65916176 65916176 G T SNP BPTF ENST00000321892 human ensembl 74_37 +1 known missense c.5852 p.R1951I 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 141 0 0 110 8 6.77966 BPTF 0 genome.wustl.edu 37 17 65928049 65928049 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 65928049 65928049 G A SNP BPTF ENST00000321892 human ensembl 74_37 +1 known missense c.6551 p.R2184H 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 109 0 0 75 5 6.25 ARSG 0 genome.wustl.edu 37 17 66343311 66343311 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 66343311 66343311 G A SNP ARSG ENST00000448504 human ensembl 74_37 +1 known missense c.452 p.R151H 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSG HGNC ENSG00000141337 100 0 0 65 4 5.7971 ARSG 0 genome.wustl.edu 37 17 66391276 66391276 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 66391276 66391276 G A SNP ARSG ENST00000448504 human ensembl 74_37 +1 known missense c.1154 p.R385H 0.383 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSG HGNC ENSG00000141337 69 0 0 42 23 35.3846 WIPI1 0 genome.wustl.edu 37 17 66431771 66431771 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 66431771 66431771 G A SNP WIPI1 ENST00000262139 human ensembl 74_37 -1 known missense c.611 p.A204V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WIPI1 HGNC ENSG00000070540 130 0 0 112 8 6.66667 PRKAR1A 0 genome.wustl.edu 37 17 66511578 66511578 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 66511578 66511578 G A SNP PRKAR1A ENST00000358598 human ensembl 74_37 +1 known missense c.38 p.R13H 1.000 pirsf_cAMP_dep_PK_reg_su pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR1A HGNC ENSG00000108946 45 0 0 33 6 15.3846 ABCA8 0 genome.wustl.edu 37 17 66864467 66864467 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 66864467 66864467 C T SNP ABCA8 ENST00000430352 human ensembl 74_37 -1 known missense c.4742 p.S1581N 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 64 0 0 40 15 27.2727 ABCA9 0 genome.wustl.edu 37 17 67016615 67016615 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 67016615 67016615 G A SNP ABCA9 ENST00000340001 human ensembl 74_37 -1 known silent c.2514 p.G838 0.987 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 118 0 0 81 34 29.5652 ABCA6 0 genome.wustl.edu 37 17 67102220 67102220 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 67102220 67102220 G A SNP ABCA6 ENST00000284425 human ensembl 74_37 -1 known missense c.2522 p.A841V 0.338 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 88 0 0 54 20 27.027 ABCA10 0 genome.wustl.edu 37 17 67212456 67212456 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 67212456 67212456 A G SNP ABCA10 ENST00000269081 human ensembl 74_37 -1 known missense c.574 p.S192P 0.001 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 178 0 0 118 46 28.0488 ABCA5 0 genome.wustl.edu 37 17 67252377 67252377 + Missense_Mutation SNP T T G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 67252377 67252377 T G SNP ABCA5 ENST00000392677 human ensembl 74_37 -1 known missense c.3782 p.D1261A 0.366 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 137 0 0 108 41 27.5168 BCL6B 0 genome.wustl.edu 37 17 6927806 6927806 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 6927806 6927806 G A SNP BCL6B ENST00000293805 human ensembl 74_37 +1 known missense c.488 p.R163H 0.729 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 BCL6B HGNC ENSG00000161940 92 0 0 57 16 21.9178 RNMTL1 0 genome.wustl.edu 37 17 694821 694821 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 694821 694821 G A SNP RNMTL1 ENST00000304478 human ensembl 74_37 +1 known missense c.775 p.A259T 1.000 pfam_SpoU_MeTrfase pfam_SpoU_MeTrfase,pfam_SpoU_subst-bd,smart_SpoU_subst-bd - no_errors RNMTL1 HGNC ENSG00000171861 49 0 0 37 13 26 NEURL4 0 genome.wustl.edu 37 17 7226176 7226176 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 7226176 7226176 G A SNP NEURL4 ENST00000399464 human ensembl 74_37 -1 known missense c.2603 p.A868V 0.999 superfamily_ConA-like_lec_gl_sf,pfscan_Neu_Z pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z - no_errors NEURL4 HGNC ENSG00000215041 148 0 0 77 23 23 BTBD17 0 genome.wustl.edu 37 17 72352858 72352858 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 72352858 72352858 C T SNP BTBD17 ENST00000375366 human ensembl 74_37 -1 known missense c.1375 p.A459T 1.000 NULL pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD17 HGNC ENSG00000204347 31 0 0 21 4 16 GGA3 0 genome.wustl.edu 37 17 73235918 73235918 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 73235918 73235918 G A SNP GGA3 ENST00000245541 human ensembl 74_37 -1 known missense c.1535 p.A512V 0.000 NULL pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA3 HGNC ENSG00000125447 64 0 0 24 7 22.5806 GGA3 0 genome.wustl.edu 37 17 73236020 73236020 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 73236020 73236020 C T SNP GGA3 ENST00000245541 human ensembl 74_37 -1 known missense c.1433 p.S478N 0.000 NULL pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA3 HGNC ENSG00000125447 18 0 0 4 4 50 LLGL2 0 genome.wustl.edu 37 17 73566553 73566553 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 73566553 73566553 C T SNP LLGL2 ENST00000392550 human ensembl 74_37 +1 known missense c.1999 p.R667W 1.000 NULL pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL2 HGNC ENSG00000073350 8 0 0 4 3 42.8571 LLGL2 0 genome.wustl.edu 37 17 73567852 73567852 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 73567852 73567852 C T SNP LLGL2 ENST00000392550 human ensembl 74_37 +1 known missense c.2281 p.R761W 1.000 NULL pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL2 HGNC ENSG00000073350 30 0 0 25 4 13.7931 SAP30BP 0 genome.wustl.edu 37 17 73702633 73702633 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 73702633 73702633 C T SNP SAP30BP ENST00000579005 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SAP30BP HGNC ENSG00000161526 50 0 0 30 17 36.1702 EVPL 0 genome.wustl.edu 37 17 74005331 74005331 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 74005331 74005331 G A SNP EVPL ENST00000301607 human ensembl 74_37 -1 known missense c.3955 p.R1319C 1.000 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 145 0 0 104 12 10.3448 POLR2A 0 genome.wustl.edu 37 17 7401440 7401440 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 7401440 7401440 G A SNP POLR2A ENST00000322644 human ensembl 74_37 +1 known missense c.1246 p.A416T 1.000 pfam_RNA_pol_asu,smart_RNA_pol_N pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 61 0 0 36 15 29.4118 POLR2A 0 genome.wustl.edu 37 17 7406984 7406984 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 7406984 7406984 G A SNP POLR2A ENST00000322644 human ensembl 74_37 +1 known silent c.3114 p.T1038 0.001 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 48 0 0 35 5 12.5 QRICH2 0 genome.wustl.edu 37 17 74287572 74287572 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 74287572 74287572 G A SNP QRICH2 ENST00000262765 human ensembl 74_37 -1 known missense c.2738 p.A913V 0.000 NULL NULL - no_errors QRICH2 HGNC ENSG00000129646 114 0 0 88 7 7.36842 QRICH2 0 genome.wustl.edu 37 17 74289360 74289360 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 74289360 74289360 C T SNP QRICH2 ENST00000262765 human ensembl 74_37 -1 known missense c.950 p.R317H 0.000 NULL NULL - no_errors QRICH2 HGNC ENSG00000129646 144 0 0 94 10 9.61538 CYGB 0 genome.wustl.edu 37 17 74527194 74527194 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 74527194 74527194 C T SNP CYGB ENST00000293230 human ensembl 74_37 -1 known missense c.406 p.A136T 0.676 superfamily_Globin-like,pfscan_Globin,prints_Myoglobin pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Globin_lamprey/hagfish,prints_Myoglobin - no_errors CYGB HGNC ENSG00000161544 32 0 0 23 6 20.6897 TP53 0 genome.wustl.edu 37 17 7577548 7577548 + Missense_Mutation SNP C C G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 7577548 7577548 C G SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.733 p.G245R 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 64 0 0 38 12 24 TNRC6C 0 genome.wustl.edu 37 17 76046100 76046100 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 76046100 76046100 C T SNP TNRC6C ENST00000335749 human ensembl 74_37 +1 known silent c.957 p.G319 0.131 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 54 0 0 28 11 28.2051 WRAP53 0 genome.wustl.edu 37 17 7604990 7604990 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 7604990 7604990 G A SNP WRAP53 ENST00000316024 human ensembl 74_37 +1 known missense c.838 p.A280T 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WRAP53 HGNC ENSG00000141499 92 0 0 73 5 6.41026 SOCS3 0 genome.wustl.edu 37 17 76354897 76354897 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 76354897 76354897 G A SNP SOCS3 ENST00000330871 human ensembl 74_37 -1 known missense c.280 p.R94C 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS3 HGNC ENSG00000184557 16 0 0 11 3 21.4286 DNAH2 0 genome.wustl.edu 37 17 7646274 7646274 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 7646274 7646274 G A SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.1718 p.R573H 0.997 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 40 0 0 31 9 22.5 DNAH2 0 genome.wustl.edu 37 17 7661926 7661926 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 7661926 7661926 C T SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.2165 p.A722V 1.000 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 83 0 0 70 18 20.4545 ENGASE 0 genome.wustl.edu 37 17 77082286 77082286 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 77082286 77082286 G A SNP ENGASE ENST00000579016 human ensembl 74_37 +1 known missense c.2087 p.R696Q 1.000 NULL pfam_Glyco_hydro_85,pfscan_BRCT_dom - no_errors ENGASE HGNC ENSG00000167280 36 0 0 30 6 16.6667 KDM6B 0 genome.wustl.edu 37 17 7751760 7751760 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 7751760 7751760 C T SNP KDM6B ENST00000254846 human ensembl 74_37 +1 known silent c.2154 p.G718 0.981 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 93 0 0 61 15 19.7368 CCDC40 0 genome.wustl.edu 37 17 78013765 78013765 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 78013765 78013765 C T SNP CCDC40 ENST00000397545 human ensembl 74_37 +1 known missense c.248 p.A83V 0.000 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 61 0 0 54 16 22.8571 CCDC40 0 genome.wustl.edu 37 17 78055728 78055728 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 78055728 78055728 C T SNP CCDC40 ENST00000397545 human ensembl 74_37 +1 known silent c.1860 p.G620 0.000 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 37 0 0 25 11 30.5556 CHD3 0 genome.wustl.edu 37 17 7812021 7812021 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 7812021 7812021 C T SNP CHD3 ENST00000330494 human ensembl 74_37 +1 known silent c.5268 p.G1756 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 254 0 0 200 16 7.40741 KCNAB3 0 genome.wustl.edu 37 17 7826435 7826435 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 7826435 7826435 C T SNP KCNAB3 ENST00000303790 human ensembl 74_37 -1 known silent c.1200 p.P400 0.019 superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB3,prints_K_chnl_volt-dep_bsu_KCNAB1,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB3 HGNC ENSG00000170049 48 0 0 30 14 31.8182 RNF213 0 genome.wustl.edu 37 17 78317021 78317021 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 78317021 78317021 G A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.6079 p.D2027N 0.173 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 57 0 0 56 12 17.6471 RPTOR 0 genome.wustl.edu 37 17 78854244 78854244 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 78854244 78854244 C T SNP RPTOR ENST00000306801 human ensembl 74_37 +1 known silent c.1539 p.N513 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 49 0 0 42 4 8.69565 RPTOR 0 genome.wustl.edu 37 17 78923244 78923244 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 78923244 78923244 C T SNP RPTOR ENST00000306801 human ensembl 74_37 +1 known silent c.3267 p.D1089 0.985 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat 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 174 0 0 115 10 8 SLC25A10 0 genome.wustl.edu 37 17 79671731 79671731 + Silent SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 79671731 79671731 T A SNP SLC25A10 ENST00000541223 human ensembl 74_37 +1 known silent c.330 p.A110 0.010 superfamily_Ribosomal_L7/L12_oligo pfam_Mitochondrial_sb/sol_carrier,pfam_Ribosomal_L7/L12_C,superfamily_Mt_carrier_dom,superfamily_Ribosomal_L7/L12_oligo,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling - no_errors SLC25A10 HGNC ENSG00000183048 68 0 0 23 17 42.5 FASN 0 genome.wustl.edu 37 17 80037254 80037254 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 80037254 80037254 G A SNP FASN ENST00000306749 human ensembl 74_37 -1 known silent c.7377 p.G2459 0.008 pfam_Thioesterase pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 34 0 0 22 7 24.1379 FASN 0 genome.wustl.edu 37 17 80038074 80038074 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 80038074 80038074 G A SNP FASN ENST00000306749 human ensembl 74_37 -1 known missense c.7088 p.A2363V 0.965 pfam_Thioesterase pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 82 0 0 49 9 15.5172 FASN 0 genome.wustl.edu 37 17 80040218 80040218 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 80040218 80040218 C T SNP FASN ENST00000306749 human ensembl 74_37 -1 known missense c.5992 p.G1998S 1.000 pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,smart_PKS/FAS_KR pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 26 0 0 22 3 12 NARF 0 genome.wustl.edu 37 17 80430461 80430461 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 80430461 80430461 C T SNP NARF ENST00000309794 human ensembl 74_37 +1 known missense c.407 p.T136M 0.634 pfam_Fe_hydrogenase_lsu_C,superfamily_Fe_hydrogenase pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARF HGNC ENSG00000141562 68 0 0 59 5 7.8125 TBCD 0 genome.wustl.edu 37 17 80772782 80772782 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 80772782 80772782 C T SNP TBCD ENST00000355528 human ensembl 74_37 +1 known silent c.1290 p.G430 1.000 superfamily_ARM-type_fold pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold - no_errors TBCD HGNC ENSG00000141556 25 0 0 16 4 20 TBCD 0 genome.wustl.edu 37 17 80900419 80900419 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 80900419 80900419 G A SNP TBCD ENST00000576603 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors TBCD HGNC ENSG00000141556 20 0 0 15 4 21.0526 CTC1 0 genome.wustl.edu 37 17 8141902 8141902 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 8141902 8141902 G A SNP CTC1 ENST00000315684 human ensembl 74_37 -1 known silent c.243 p.C81 1.000 NULL NULL - no_errors CTC1 HGNC ENSG00000178971 81 0 0 53 24 31.1688 MYH10 0 genome.wustl.edu 37 17 8526285 8526285 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 8526285 8526285 T C SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.280 p.T94A 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 138 1 0.719424 100 41 29.078 PIK3R5 0 genome.wustl.edu 37 17 8789551 8789551 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 8789551 8789551 G A SNP PIK3R5 ENST00000447110 human ensembl 74_37 -1 known missense c.2123 p.A708V 1.000 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R5 HGNC ENSG00000141506 29 0 0 19 9 32.1429 PIK3R5 0 genome.wustl.edu 37 17 8791611 8791611 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 8791611 8791611 C T SNP PIK3R5 ENST00000447110 human ensembl 74_37 -1 known missense c.1493 p.R498H 0.008 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R5 HGNC ENSG00000141506 31 0 0 17 10 37.037 NTN1 0 genome.wustl.edu 37 17 8926018 8926018 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 8926018 8926018 G A SNP NTN1 ENST00000173229 human ensembl 74_37 +1 known missense c.328 p.D110N 1.000 pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_Netrin_module_non-TIMP,pfam_EGF_laminin,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain - no_errors NTN1 HGNC ENSG00000065320 12 0 0 13 5 27.7778 USP43 0 genome.wustl.edu 37 17 9559771 9559771 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 9559771 9559771 G A SNP USP43 ENST00000285199 human ensembl 74_37 +1 known missense c.556 p.A186T 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP43 HGNC ENSG00000154914 22 0 0 16 7 30.4348 DHRS7C 0 genome.wustl.edu 37 17 9674988 9674988 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 9674988 9674988 G A SNP DHRS7C ENST00000330255 human ensembl 74_37 -1 known silent c.756 p.G252 0.997 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS7C HGNC ENSG00000184544 25 0 0 8 9 52.9412 GLP2R 0 genome.wustl.edu 37 17 9739794 9739794 + Splice_Site SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 9739794 9739794 T C SNP GLP2R ENST00000262441 human ensembl 74_37 +1 known splice_site c.382+2 e3+2 0.997 - - - no_errors GLP2R HGNC ENSG00000065325 96 0 0 73 24 24.7423 PIEZO2 0 genome.wustl.edu 37 18 10696474 10696474 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 10696474 10696474 G A SNP PIEZO2 ENST00000538948 human ensembl 74_37 -1 known silent c.423 p.S141 0.974 NULL pfam_Piezo - no_errors PIEZO2 HGNC ENSG00000154864 103 0 0 71 56 44.0945 MPPE1 0 genome.wustl.edu 37 18 11884615 11884615 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 11884615 11884615 C T SNP MPPE1 ENST00000588072 human ensembl 74_37 -1 known silent c.1020 p.T340 0.000 NULL pfam_PEstase_dom - no_errors MPPE1 HGNC ENSG00000154889 77 0 0 78 7 8.23529 PTPN2 0 genome.wustl.edu 37 18 12817195 12817195 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 12817195 12817195 C T SNP PTPN2 ENST00000309660 human ensembl 74_37 -1 known missense c.665 p.R222H 1.000 pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN2 HGNC ENSG00000175354 151 0 0 122 38 23.75 ZNF519 0 genome.wustl.edu 37 18 14124358 14124358 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 14124358 14124358 C T SNP ZNF519 ENST00000590202 human ensembl 74_37 -1 known missense c.121 p.V41I 0.232 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 ZNF519 HGNC ENSG00000175322 112 0 0 93 14 13.0841 CXADRP3 0 genome.wustl.edu 37 18 14479149 14479149 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 14479149 14479149 G A SNP CXADRP3 ENST00000581457 human ensembl 74_37 -1 known rna NULL NULL 0.977 - - - no_errors CXADRP3 HGNC ENSG00000265766 41 0 0 47 9 16.0714 ROCK1 0 genome.wustl.edu 37 18 18622132 18622132 + Missense_Mutation SNP A A T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 18622132 18622132 A T SNP ROCK1 ENST00000399799 human ensembl 74_37 -1 known missense c.885 p.N295K 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd_dom,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK1 HGNC ENSG00000067900 71 0 0 85 8 8.60215 NPC1 0 genome.wustl.edu 37 18 21140277 21140277 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 21140277 21140277 C T SNP NPC1 ENST00000269228 human ensembl 74_37 -1 known missense c.799 p.A267T 1.000 tigrfam_NP_C_type pfam_Patched,pfam_MMPL_dom,pfscan_SSD,tigrfam_NP_C_type - no_errors NPC1 HGNC ENSG00000141458 91 0 0 48 53 52.4752 HRH4 0 genome.wustl.edu 37 18 22048786 22048786 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 22048786 22048786 G A SNP HRH4 ENST00000256906 human ensembl 74_37 +1 known silent c.228 p.T76 0.000 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_Histamine_H4_rcpt,prints_GPCR_Rhodpsn - no_errors HRH4 HGNC ENSG00000134489 69 0 0 88 9 9.27835 CHST9 0 genome.wustl.edu 37 18 24497286 24497286 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 24497286 24497286 A G SNP CHST9 ENST00000284224 human ensembl 74_37 -1 known missense c.269 p.V90A 0.000 NULL pfam_Sulfotransferase - no_errors CHST9 HGNC ENSG00000154080 176 0 0 194 13 6.28019 METTL4 0 genome.wustl.edu 37 18 2544238 2544238 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 2544238 2544238 A G SNP METTL4 ENST00000574538 human ensembl 74_37 -1 known missense c.1229 p.V410A 1.000 pfam_MT-A70-like,pfscan_MT-A70-like pfam_MT-A70-like,pfscan_MT-A70-like - no_errors METTL4 HGNC ENSG00000101574 60 0 0 66 4 5.71429 SMCHD1 0 genome.wustl.edu 37 18 2724949 2724949 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 2724949 2724949 C T SNP SMCHD1 ENST00000320876 human ensembl 74_37 +1 known nonsense c.2656 p.R886* 1.000 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_HATPase_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 29 0 0 31 5 13.8889 DSC2 0 genome.wustl.edu 37 18 28671070 28671070 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 28671070 28671070 C T SNP DSC2 ENST00000280904 human ensembl 74_37 -1 known missense c.395 p.R132H 0.812 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin - no_errors DSC2 HGNC ENSG00000134755 82 0 0 87 8 8.42105 DSC1 0 genome.wustl.edu 37 18 28714691 28714691 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 28714691 28714691 C T SNP DSC1 ENST00000257198 human ensembl 74_37 -1 known missense c.1720 p.A574T 0.987 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_pro_dom,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin/Desmocollin,prints_Cadherin,prints_Desmosomal_cadherin - no_errors DSC1 HGNC ENSG00000134765 44 0 0 33 9 21.4286 DSG3 0 genome.wustl.edu 37 18 29049154 29049154 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 29049154 29049154 G A SNP DSG3 ENST00000257189 human ensembl 74_37 +1 known missense c.1739 p.R580H 0.043 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG3 HGNC ENSG00000134757 189 0 0 177 43 19.5455 DSG2 0 genome.wustl.edu 37 18 29125953 29125953 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 29125953 29125953 T C SNP DSG2 ENST00000261590 human ensembl 74_37 +1 known silent c.2604 p.H868 0.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG2 HGNC ENSG00000046604 179 0 0 154 34 18.0851 LPIN2 0 genome.wustl.edu 37 18 2924406 2924406 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 2924406 2924406 T C SNP LPIN2 ENST00000261596 human ensembl 74_37 -1 known missense c.2077 p.T693A 0.998 pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2 pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN2 HGNC ENSG00000101577 102 0 0 108 6 5.26316 TRAPPC8 0 genome.wustl.edu 37 18 29412060 29412060 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 29412060 29412060 G A SNP TRAPPC8 ENST00000283351 human ensembl 74_37 -1 known missense c.4060 p.H1354Y 1.000 NULL NULL - no_errors TRAPPC8 HGNC ENSG00000153339 69 0 0 101 10 9.00901 KLHL14 0 genome.wustl.edu 37 18 30321990 30321990 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 30321990 30321990 G A SNP KLHL14 ENST00000359358 human ensembl 74_37 -1 known silent c.970 p.L324 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL14 HGNC ENSG00000197705 64 0 0 52 28 35 NOL4 0 genome.wustl.edu 37 18 31709979 31709979 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 31709979 31709979 G A SNP NOL4 ENST00000261592 human ensembl 74_37 -1 known silent c.270 p.G90 1.000 NULL NULL - no_errors NOL4 HGNC ENSG00000101746 56 0 0 39 20 33.8983 MYL12B 0 genome.wustl.edu 37 18 3277382 3277382 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 3277382 3277382 G A SNP MYL12B ENST00000237500 human ensembl 74_37 +1 known missense c.316 p.A106T 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MYL12B HGNC ENSG00000118680 132 1 0.75188 94 50 34.7222 GALNT1 0 genome.wustl.edu 37 18 33263470 33263470 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 33263470 33263470 G A SNP GALNT1 ENST00000269195 human ensembl 74_37 +1 known silent c.597 p.V199 0.985 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 GALNT1 HGNC ENSG00000141429 38 0 0 27 36 57.1429 MOCOS 0 genome.wustl.edu 37 18 33785068 33785068 + Silent SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 33785068 33785068 C A SNP MOCOS ENST00000261326 human ensembl 74_37 +1 known silent c.1047 p.T349 0.964 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,superfamily_Pyrv_Knase-like_insert_dom - no_errors MOCOS HGNC ENSG00000075643 82 0 0 65 17 20.7317 MOCOS 0 genome.wustl.edu 37 18 33846728 33846728 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 33846728 33846728 A G SNP MOCOS ENST00000261326 human ensembl 74_37 +1 known missense c.2426 p.H809R 1.000 pfam_MoCF_Sase_C,superfamily_Pyrv_Knase-like_insert_dom pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,superfamily_Pyrv_Knase-like_insert_dom - no_errors MOCOS HGNC ENSG00000075643 42 0 0 38 10 20.8333 FHOD3 0 genome.wustl.edu 37 18 34310720 34310720 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 34310720 34310720 G A SNP FHOD3 ENST00000257209 human ensembl 74_37 +1 known missense c.3004 p.A1002T 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 86 0 0 103 7 6.36364 FHOD3 0 genome.wustl.edu 37 18 34349305 34349305 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 34349305 34349305 C T SNP FHOD3 ENST00000257209 human ensembl 74_37 +1 known missense c.4153 p.R1385C 1.000 NULL pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 88 0 0 48 42 46.6667 KIAA1328 0 genome.wustl.edu 37 18 34752963 34752963 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 34752963 34752963 C T SNP KIAA1328 ENST00000280020 human ensembl 74_37 +1 known missense c.1442 p.A481V 0.994 NULL NULL - no_errors KIAA1328 HGNC ENSG00000150477 161 0 0 167 10 5.64972 CELF4 0 genome.wustl.edu 37 18 34854311 34854311 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 34854311 34854311 G A SNP CELF4 ENST00000420428 human ensembl 74_37 -1 known missense c.764 p.A255V 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF4 HGNC ENSG00000101489 69 0 0 32 44 57.8947 PIK3C3 0 genome.wustl.edu 37 18 39575890 39575890 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 39575890 39575890 C T SNP PIK3C3 ENST00000262039 human ensembl 74_37 +1 known missense c.823 p.R275W 1.000 superfamily_ARM-type_fold,pirsf_PI3K_Vps34 pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C3 HGNC ENSG00000078142 58 0 0 71 10 12.3457 SETBP1 0 genome.wustl.edu 37 18 42531132 42531132 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 42531132 42531132 C T SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known silent c.1827 p.P609 0.297 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 95 0 0 62 38 38 SLC14A2 0 genome.wustl.edu 37 18 43204637 43204637 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 43204637 43204637 A G SNP SLC14A2 ENST00000255226 human ensembl 74_37 +1 known missense c.8 p.D3G 0.176 NULL pfam_Urea_transporter - no_errors SLC14A2 HGNC ENSG00000132874 56 0 0 53 4 7.01754 SLC14A1 0 genome.wustl.edu 37 18 43310355 43310355 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 43310355 43310355 C T SNP SLC14A1 ENST00000415427 human ensembl 74_37 +1 known missense c.238 p.P80S 0.000 NULL pfam_Urea_transporter - no_errors SLC14A1 HGNC ENSG00000141469 84 0 0 80 5 5.88235 ACAA2 0 genome.wustl.edu 37 18 47329200 47329200 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 47329200 47329200 G A SNP ACAA2 ENST00000285093 human ensembl 74_37 -1 known nonsense c.40 p.R14* 1.000 pfam_Thiolase_N,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 120 0 0 85 31 26.7241 MYO5B 0 genome.wustl.edu 37 18 47566549 47566549 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 47566549 47566549 G A SNP MYO5B ENST00000285039 human ensembl 74_37 -1 known missense c.274 p.R92C 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC ENSG00000167306 272 0 0 260 50 16.129 ME2 0 genome.wustl.edu 37 18 48458685 48458685 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 48458685 48458685 C T SNP ME2 ENST00000321341 human ensembl 74_37 +1 known nonsense c.1372 p.R458* 0.736 pfam_Malic_NAD-bd,smart_Malic_NAD-bd pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME2 HGNC ENSG00000082212 92 0 0 106 8 7.01754 SMAD4 0 genome.wustl.edu 37 18 48593465 48593465 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 48593465 48593465 G A SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known missense c.1216 p.A406T 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 82 0 0 54 42 43.75 DCC 0 genome.wustl.edu 37 18 50923715 50923715 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 50923715 50923715 G A SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.2726 p.G909D 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 111 0 0 145 32 18.0791 MBD2 0 genome.wustl.edu 37 18 51691025 51691025 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 51691025 51691025 G A SNP MBD2 ENST00000256429 human ensembl 74_37 -1 known missense c.977 p.A326V 1.000 NULL pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD2 HGNC ENSG00000134046 72 0 0 77 6 7.22892 DYNAP 0 genome.wustl.edu 37 18 52262274 52262274 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 52262274 52262274 C T SNP DYNAP ENST00000321600 human ensembl 74_37 +1 known silent c.240 p.C80 0.000 NULL NULL - no_errors DYNAP HGNC ENSG00000178690 139 0 0 112 93 45.3659 CCDC68 0 genome.wustl.edu 37 18 52609944 52609944 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 52609944 52609944 A G SNP CCDC68 ENST00000337363 human ensembl 74_37 -1 known missense c.79 p.S27P 0.005 NULL superfamily_Prefoldin - no_errors CCDC68 HGNC ENSG00000166510 91 0 0 84 18 17.6471 ZBTB14 0 genome.wustl.edu 37 18 5292149 5292149 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 5292149 5292149 T C SNP ZBTB14 ENST00000357006 human ensembl 74_37 -1 known missense c.58 p.T20A 1.000 superfamily_BTB/POZ_fold pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB14 HGNC ENSG00000198081 61 0 0 72 18 20 TCF4 0 genome.wustl.edu 37 18 52946880 52946880 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 52946880 52946880 G A SNP TCF4 ENST00000398339 human ensembl 74_37 -1 known missense c.863 p.A288V 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF4 HGNC ENSG00000196628 88 0 0 60 24 28.5714 EPB41L3 0 genome.wustl.edu 37 18 5407700 5407700 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 5407700 5407700 C A SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.2157 p.Q719H 1.000 pirsf_Band_41_protein,pfam_SAB_dom 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 85 0 0 94 21 18.2609 ST8SIA3 0 genome.wustl.edu 37 18 55020138 55020138 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 55020138 55020138 G A SNP ST8SIA3 ENST00000324000 human ensembl 74_37 +1 known missense c.61 p.A21T 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA3 HGNC ENSG00000177511 49 0 0 22 14 38.8889 FECH 0 genome.wustl.edu 37 18 55218072 55218072 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 55218072 55218072 C T SNP FECH ENST00000382873 human ensembl 74_37 -1 known missense c.1162 p.A388T 1.000 pfam_Ferrochelatase,tigrfam_Ferrochelatase pfam_Ferrochelatase,tigrfam_Ferrochelatase - no_errors FECH HGNC ENSG00000066926 60 0 0 65 8 10.9589 ALPK2 0 genome.wustl.edu 37 18 56205101 56205101 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 56205101 56205101 G A SNP ALPK2 ENST00000361673 human ensembl 74_37 -1 known missense c.2318 p.A773V 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 89 0 0 88 28 24.1379 MALT1 0 genome.wustl.edu 37 18 56412961 56412961 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 56412961 56412961 G A SNP MALT1 ENST00000348428 human ensembl 74_37 +1 known missense c.1975 p.V659I 0.998 NULL pfam_Pept_C14_caspase,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_DEATH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Pept_C14_ICE_p20,pfscan_Ig-like_dom - no_errors MALT1 HGNC ENSG00000172175 94 0 0 121 26 17.6871 ZNF532 0 genome.wustl.edu 37 18 56587202 56587202 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 56587202 56587202 G A SNP ZNF532 ENST00000336078 human ensembl 74_37 +1 known silent c.1683 p.S561 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ENSG00000074657 28 0 0 25 4 13.7931 MC4R 0 genome.wustl.edu 37 18 58038852 58038852 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 58038852 58038852 G A SNP MC4R ENST00000299766 human ensembl 74_37 -1 known missense c.731 p.A244V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_GPCR_Rhodpsn,prints_Melancort_rcpt,prints_Cnbnoid_rcpt - no_errors MC4R HGNC ENSG00000166603 86 0 0 51 43 45.7447 TMEM200C 0 genome.wustl.edu 37 18 5892007 5892007 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 5892007 5892007 C T SNP TMEM200C ENST00000383490 human ensembl 74_37 -1 known missense c.56 p.R19H 0.985 pfam_DUF2371_TMEM200 pfam_DUF2371_TMEM200 - no_errors TMEM200C HGNC ENSG00000206432 38 0 0 23 9 28.125 CDH20 0 genome.wustl.edu 37 18 59195390 59195390 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 59195390 59195390 C T SNP CDH20 ENST00000262717 human ensembl 74_37 +1 known missense c.1208 p.A403V 0.500 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC ENSG00000101542 217 1 0.458716 226 55 19.573 TNFRSF11A 0 genome.wustl.edu 37 18 60036437 60036437 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 60036437 60036437 C T SNP TNFRSF11A ENST00000586569 human ensembl 74_37 +1 known silent c.1287 p.G429 0.000 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_11A,prints_TNFR_11 - no_errors TNFRSF11A HGNC ENSG00000141655 43 0 0 22 9 29.0323 SERPINB12 0 genome.wustl.edu 37 18 61225704 61225704 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 61225704 61225704 G T SNP SERPINB12 ENST00000382768 human ensembl 74_37 +1 novel missense c.288 p.E96D 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB12 HGNC ENSG00000166634 50 0 0 48 11 18.6441 SERPINB2 0 genome.wustl.edu 37 18 61569049 61569049 + Missense_Mutation SNP T T G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 61569049 61569049 T G SNP SERPINB2 ENST00000299502 human ensembl 74_37 +1 known missense c.611 p.F204C 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB2 HGNC ENSG00000197632 109 0 0 113 28 19.8582 CDH7 0 genome.wustl.edu 37 18 63477140 63477140 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 63477140 63477140 G A SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known silent c.411 p.S137 0.000 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 CDH7 HGNC ENSG00000081138 80 0 0 73 29 28.4314 CCDC102B 0 genome.wustl.edu 37 18 66513554 66513554 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 66513554 66513554 C T SNP CCDC102B ENST00000319445 human ensembl 74_37 +1 known missense c.832 p.R278C 0.994 NULL NULL - no_errors CCDC102B HGNC ENSG00000150636 66 0 0 47 15 24.1935 RTTN 0 genome.wustl.edu 37 18 67727254 67727254 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 67727254 67727254 C T SNP RTTN ENST00000255674 human ensembl 74_37 -1 known missense c.4772 p.R1591Q 0.000 NULL superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 50 0 0 61 12 16.4384 ENOSF1 0 genome.wustl.edu 37 18 677835 677835 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 677835 677835 G A SNP ENOSF1 ENST00000340116 human ensembl 74_37 -1 known missense c.977 p.A326V 1.000 NULL pfam_Mandelate_racemase_C,pfam_Mandelate_racemase_N,smart_Mandelate_racemase_C - no_errors ENOSF1 HGNC ENSG00000132199 139 0 0 102 38 27.1429 RTTN 0 genome.wustl.edu 37 18 67860572 67860572 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 67860572 67860572 C T SNP RTTN ENST00000255674 human ensembl 74_37 -1 known missense c.959 p.G320D 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 61 0 0 56 10 15.1515 LOC101927188 0 genome.wustl.edu 37 18 6956445 6956445 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 6956445 6956445 G A SNP LOC101927188 ENST00000584722 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-781P6.1 Clone_based_vega_gene ENSG00000265069 18 0 0 10 11 52.381 LAMA1 0 genome.wustl.edu 37 18 6964747 6964747 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 6964747 6964747 G A SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known silent c.7251 p.G2417 0.114 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 74 0 0 88 10 10.2041 LAMA1 0 genome.wustl.edu 37 18 7046313 7046313 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 7046313 7046313 G A SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known silent c.822 p.G274 0.991 pfam_EGF_laminin,smart_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 103 0 0 80 57 41.6058 LAMA1 0 genome.wustl.edu 37 18 7049171 7049171 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 7049171 7049171 C T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.674 p.R225H 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N 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 161 0 0 147 26 15.0289 CNDP2 0 genome.wustl.edu 37 18 72173240 72173240 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 72173240 72173240 C T SNP CNDP2 ENST00000324262 human ensembl 74_37 +1 known nonsense c.361 p.R121* 1.000 pfam_Peptidase_M20,pirsf_GSH_degradosome_DUG1 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1 - no_errors CNDP2 HGNC ENSG00000133313 47 0 0 23 13 36.1111 TSHZ1 0 genome.wustl.edu 37 18 72999217 72999217 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 72999217 72999217 G A SNP TSHZ1 ENST00000580243 human ensembl 74_37 +1 known missense c.1855 p.A619T 0.901 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ENSG00000179981 27 0 0 16 8 33.3333 TSHZ1 0 genome.wustl.edu 37 18 72999371 72999371 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 72999371 72999371 C T SNP TSHZ1 ENST00000580243 human ensembl 74_37 +1 known missense c.2009 p.A670V 0.011 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ENSG00000179981 76 0 0 63 6 8.69565 TSHZ1 0 genome.wustl.edu 37 18 72999579 72999579 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 72999579 72999579 G A SNP TSHZ1 ENST00000580243 human ensembl 74_37 +1 known silent c.2217 p.E739 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ENSG00000179981 59 0 0 44 11 20 TSHZ1 0 genome.wustl.edu 37 18 72999867 72999867 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 72999867 72999867 C T SNP TSHZ1 ENST00000580243 human ensembl 74_37 +1 known silent c.2505 p.S835 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ENSG00000179981 64 0 0 69 6 8 ZNF516 0 genome.wustl.edu 37 18 74154862 74154862 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 74154862 74154862 G A SNP ZNF516 ENST00000443185 human ensembl 74_37 -1 known missense c.149 p.S50L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF516 HGNC ENSG00000101493 42 0 0 36 17 32.0755 ZNF236 0 genome.wustl.edu 37 18 74593430 74593430 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 74593430 74593430 A G SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known missense c.1373 p.E458G 0.988 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 110 0 0 83 40 32.5203 ATP9B 0 genome.wustl.edu 37 18 77037168 77037168 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 77037168 77037168 C T SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known silent c.1383 p.R461 0.794 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9B HGNC ENSG00000166377 93 0 0 92 5 5.15464 ATP9B 0 genome.wustl.edu 37 18 77090061 77090061 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 77090061 77090061 C T SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known missense c.1985 p.A662V 0.982 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9B HGNC ENSG00000166377 75 0 0 75 17 18.4783 ATP9B 0 genome.wustl.edu 37 18 77133950 77133950 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 77133950 77133950 C T SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known silent c.3123 p.H1041 0.950 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9B HGNC ENSG00000166377 88 0 0 91 10 9.90099 NFATC1 0 genome.wustl.edu 37 18 77246433 77246433 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 77246433 77246433 G A SNP NFATC1 ENST00000427363 human ensembl 74_37 +1 known missense c.2278 p.A760T 0.002 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC1 HGNC ENSG00000131196 81 0 0 59 12 16.9014 CTDP1 0 genome.wustl.edu 37 18 77474877 77474877 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 77474877 77474877 G A SNP CTDP1 ENST00000299543 human ensembl 74_37 +1 known missense c.1417 p.A473T 0.000 NULL pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk - no_errors CTDP1 HGNC ENSG00000060069 10 0 0 4 5 55.5556 CTDP1 0 genome.wustl.edu 37 18 77475079 77475079 + Missense_Mutation SNP G G C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 77475079 77475079 G C SNP CTDP1 ENST00000299543 human ensembl 74_37 +1 known missense c.1619 p.G540A 0.999 NULL pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk - no_errors CTDP1 HGNC ENSG00000060069 19 0 0 21 3 12.5 KCNG2 0 genome.wustl.edu 37 18 77659090 77659090 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 77659090 77659090 C T SNP KCNG2 ENST00000316249 human ensembl 74_37 +1 known silent c.675 p.C225 0.998 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv - no_errors KCNG2 HGNC ENSG00000178342 24 0 0 17 6 26.087 PQLC1 0 genome.wustl.edu 37 18 77703340 77703340 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 77703340 77703340 C T SNP PQLC1 ENST00000397778 human ensembl 74_37 -1 known missense c.326 p.R109H 0.999 NULL smart_CTNS - no_errors PQLC1 HGNC ENSG00000122490 125 0 0 111 24 17.7778 RBFA 0 genome.wustl.edu 37 18 77797403 77797403 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 77797403 77797403 G A SNP RBFA ENST00000306735 human ensembl 74_37 +1 known missense c.275 p.R92H 0.905 superfamily_Ribosome-bd_facA_dom pfam_Ribosome-bd_facA,superfamily_Ribosome-bd_facA_dom - no_errors RBFA HGNC ENSG00000101546 108 1 0.917431 111 6 5.12821 ADNP2 0 genome.wustl.edu 37 18 77894583 77894583 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 77894583 77894583 C T SNP ADNP2 ENST00000262198 human ensembl 74_37 +1 known silent c.1287 p.V429 0.923 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 62 0 0 63 5 7.35294 ADNP2 0 genome.wustl.edu 37 18 77896106 77896106 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 77896106 77896106 G A SNP ADNP2 ENST00000262198 human ensembl 74_37 +1 known missense c.2810 p.R937H 0.984 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 92 0 0 77 7 8.33333 PTPRM 0 genome.wustl.edu 37 18 8343455 8343455 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 8343455 8343455 G A SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known silent c.2994 p.R998 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt 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 106 0 0 57 64 52.8926 SOGA2 0 genome.wustl.edu 37 18 8720396 8720396 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 8720396 8720396 G A SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known missense c.259 p.A87T 0.104 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 106 0 0 110 11 9.09091 TXNDC2 0 genome.wustl.edu 37 18 9886245 9886245 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 9886245 9886245 G A SNP TXNDC2 ENST00000306084 human ensembl 74_37 +1 known missense c.74 p.G25D 0.000 NULL pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold - no_errors TXNDC2 HGNC ENSG00000168454 55 0 0 55 4 6.77966 GRIN3B 0 genome.wustl.edu 37 19 1005443 1005443 + Missense_Mutation SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 1005443 1005443 T A SNP GRIN3B ENST00000234389 human ensembl 74_37 +1 known missense c.1943 p.L648H 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN3B HGNC ENSG00000116032 44 0 0 27 13 32.5 COL5A3 0 genome.wustl.edu 37 19 10073525 10073525 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 10073525 10073525 G A SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known silent c.4821 p.G1607 0.965 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 21 0 0 21 4 16 ANGPTL6 0 genome.wustl.edu 37 19 10203294 10203294 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 10203294 10203294 C T SNP ANGPTL6 ENST00000253109 human ensembl 74_37 -1 known missense c.1384 p.A462T 0.259 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 102 0 0 81 12 12.9032 PPAN-P2RY11 0 genome.wustl.edu 37 19 10221526 10221526 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 10221526 10221526 C T SNP PPAN-P2RY11 ENST00000393796 human ensembl 74_37 +1 known silent c.1185 p.G395 0.992 NULL pfam_Brix,pfam_GPCR_Rhodpsn,superfamily_Anticodon-bd,smart_Brix,prints_GPCR_Rhodpsn,pfscan_Brix,pfscan_GPCR_Rhodpsn_7TM - no_errors PPAN-P2RY11 HGNC ENSG00000243207 81 0 0 59 15 20.2703 DNMT1 0 genome.wustl.edu 37 19 10252856 10252856 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 10252856 10252856 C T SNP DNMT1 ENST00000359526 human ensembl 74_37 -1 known missense c.3157 p.A1053T 0.276 pirsf_DNA_C5-MeTrfase_1_euk,pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC ENSG00000130816 60 0 0 55 11 16.6667 MRPL4 0 genome.wustl.edu 37 19 10367487 10367487 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 10367487 10367487 C T SNP MRPL4 ENST00000253099 human ensembl 74_37 +1 known missense c.431 p.P144L 1.000 pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom,tigrfam_Ribosomal_L4/L1e_bac-type pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom,tigrfam_Ribosomal_L4/L1e_bac-type - no_errors MRPL4 HGNC ENSG00000105364 30 0 0 21 7 25 MRPL4 0 genome.wustl.edu 37 19 10370451 10370451 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 10370451 10370451 G A SNP MRPL4 ENST00000253099 human ensembl 74_37 +1 known missense c.898 p.A300T 0.000 NULL pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom,tigrfam_Ribosomal_L4/L1e_bac-type - no_errors MRPL4 HGNC ENSG00000105364 29 0 0 14 16 53.3333 KEAP1 0 genome.wustl.edu 37 19 10610610 10610610 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 10610610 10610610 C T SNP KEAP1 ENST00000171111 human ensembl 74_37 -1 known missense c.100 p.A34T 0.997 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 KEAP1 HGNC ENSG00000079999 81 0 0 48 15 23.8095 ATG4D 0 genome.wustl.edu 37 19 10663693 10663693 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 10663693 10663693 C T SNP ATG4D ENST00000309469 human ensembl 74_37 +1 known missense c.1375 p.R459W 0.995 NULL pfam_Peptidase_C54 - no_errors ATG4D HGNC ENSG00000130734 28 0 0 19 6 24 CDKN2D 0 genome.wustl.edu 37 19 10678072 10678072 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 10678072 10678072 C T SNP CDKN2D ENST00000335766 human ensembl 74_37 -1 known missense c.163 p.A55T 0.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2D HGNC ENSG00000129355 135 0 0 88 33 27.2727 ILF3 0 genome.wustl.edu 37 19 10793873 10793873 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 10793873 10793873 C T SNP ILF3 ENST00000449870 human ensembl 74_37 +1 known missense c.1621 p.R541C 1.000 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_DZF,pfam_dsRNA-bd_dom,smart_DZF,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors ILF3 HGNC ENSG00000129351 58 0 0 58 9 13.4328 YIPF2 0 genome.wustl.edu 37 19 11034602 11034602 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 11034602 11034602 C T SNP YIPF2 ENST00000253031 human ensembl 74_37 -1 known nonsense c.558 p.W186* 1.000 pfam_Yip1 pfam_Yip1 - no_errors YIPF2 HGNC ENSG00000130733 8 0 0 11 5 31.25 RGL3 0 genome.wustl.edu 37 19 11505125 11505125 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 11505125 11505125 G A SNP RGL3 ENST00000393423 human ensembl 74_37 -1 known missense c.2104 p.R702W 0.788 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL3 HGNC ENSG00000205517 59 0 0 44 15 25.4237 CNN1 0 genome.wustl.edu 37 19 11658702 11658702 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 11658702 11658702 C T SNP CNN1 ENST00000252456 human ensembl 74_37 +1 known missense c.481 p.R161W 0.959 superfamily_CH-domain,prints_SM22_calponin pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin - no_errors CNN1 HGNC ENSG00000130176 41 0 0 25 14 35.8974 ZNF441 0 genome.wustl.edu 37 19 11891710 11891710 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 11891710 11891710 G A SNP ZNF441 ENST00000357901 human ensembl 74_37 +1 known silent c.1071 p.T357 0.033 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 ZNF441 HGNC ENSG00000197044 168 0 0 133 8 5.67376 ZNF440 0 genome.wustl.edu 37 19 11942881 11942881 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 11942881 11942881 G A SNP ZNF440 ENST00000304060 human ensembl 74_37 +1 known missense c.890 p.R297H 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF440 HGNC ENSG00000171295 112 0 0 94 18 16.0714 ZNF439 0 genome.wustl.edu 37 19 11978739 11978739 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 11978739 11978739 T C SNP ZNF439 ENST00000304030 human ensembl 74_37 +1 known silent c.855 p.C285 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF439 HGNC ENSG00000171291 117 0 0 76 22 22.449 ZNF763 0 genome.wustl.edu 37 19 12089891 12089891 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 12089891 12089891 A G SNP ZNF763 ENST00000538752 human ensembl 74_37 +1 known silent c.1212 p.T404 0.023 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 ZNF763 HGNC ENSG00000197054 118 1 0.840336 113 10 8.13008 CIRBP 0 genome.wustl.edu 37 19 1272348 1272348 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 1272348 1272348 G A SNP CIRBP ENST00000444172 human ensembl 74_37 +1 known missense c.641 p.R214H 0.119 NULL NULL - no_errors CIRBP HGNC ENSG00000099622 58 0 0 46 9 16.3636 ZNF791 0 genome.wustl.edu 37 19 12739704 12739704 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 12739704 12739704 C T SNP ZNF791 ENST00000343325 human ensembl 74_37 +1 known missense c.1361 p.A454V 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 ZNF791 HGNC ENSG00000173875 109 0 0 88 7 7.36842 WDR83OS 0 genome.wustl.edu 37 19 12779185 12779185 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 12779185 12779185 C T SNP WDR83OS ENST00000596731 human ensembl 74_37 -1 known silent c.309 p.T103 0.967 pfam_UPF0139 pfam_UPF0139 - no_errors WDR83OS HGNC ENSG00000105583 14 0 0 7 4 36.3636 TNPO2 0 genome.wustl.edu 37 19 12812201 12812201 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 12812201 12812201 G A SNP TNPO2 ENST00000425528 human ensembl 74_37 -1 known missense c.2653 p.P885S 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors TNPO2 HGNC ENSG00000105576 60 0 0 34 22 39.2857 TNPO2 0 genome.wustl.edu 37 19 12826457 12826457 + Missense_Mutation SNP T T G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 12826457 12826457 T G SNP TNPO2 ENST00000425528 human ensembl 74_37 -1 known missense c.422 p.N141T 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors TNPO2 HGNC ENSG00000105576 14 0 0 7 7 50 RNASEH2A 0 genome.wustl.edu 37 19 12924174 12924174 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 12924174 12924174 T C SNP RNASEH2A ENST00000221486 human ensembl 74_37 +1 known missense c.794 p.L265P 0.000 NULL pfam_RNase_HII/HIII_dom,superfamily_RNaseH-like_dom,tigrfam_RNase_H2_suA - no_errors RNASEH2A HGNC ENSG00000104889 53 0 0 38 12 24 GCDH 0 genome.wustl.edu 37 19 13010517 13010517 + Missense_Mutation SNP T T G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 13010517 13010517 T G SNP GCDH ENST00000457854 human ensembl 74_37 +1 known missense c.1247 p.V416G 0.000 pfam_Acyl-CoA_DH_2_C pfam_AcylCoA_DH/ox_N,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors GCDH HGNC ENSG00000105607 63 0 0 54 6 10 CC2D1A 0 genome.wustl.edu 37 19 14034522 14034522 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 14034522 14034522 C T SNP CC2D1A ENST00000318003 human ensembl 74_37 +1 known missense c.1838 p.A613V 0.995 NULL pfam_C2_dom,superfamily_C2_dom,smart_DM14,smart_C2_dom - no_errors CC2D1A HGNC ENSG00000132024 62 0 0 58 5 7.93651 LPHN1 0 genome.wustl.edu 37 19 14266322 14266322 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 14266322 14266322 G A SNP LPHN1 ENST00000340736 human ensembl 74_37 -1 known missense c.3158 p.A1053V 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,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 43 0 0 28 9 24.3243 PKN1 0 genome.wustl.edu 37 19 14554393 14554393 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 14554393 14554393 C T SNP PKN1 ENST00000342216 human ensembl 74_37 +1 known missense c.452 p.A151V 1.000 pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN1 HGNC ENSG00000123143 29 0 0 20 7 25.9259 APC2 0 genome.wustl.edu 37 19 1460307 1460307 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 1460307 1460307 C T SNP APC2 ENST00000233607 human ensembl 74_37 +1 known silent c.1431 p.D477 0.647 superfamily_ARM-type_fold,smart_Armadillo pfam_APC_basic_dom,pfam_APC_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo - no_errors APC2 HGNC ENSG00000115266 50 0 0 31 19 38 ZNF333 0 genome.wustl.edu 37 19 14815942 14815942 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 14815942 14815942 G A SNP ZNF333 ENST00000292530 human ensembl 74_37 +1 known missense c.383 p.R128Q 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,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 ZNF333 HGNC ENSG00000160961 54 0 0 27 8 22.8571 EMR2 0 genome.wustl.edu 37 19 14857720 14857720 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 14857720 14857720 G A SNP EMR2 ENST00000315576 human ensembl 74_37 -1 known silent c.2079 p.C693 0.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR2 HGNC ENSG00000127507 32 0 0 28 4 12.5 OR7C1 0 genome.wustl.edu 37 19 14910601 14910601 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 14910601 14910601 G A SNP OR7C1 ENST00000248073 human ensembl 74_37 -1 known silent c.348 p.T116 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 OR7C1 HGNC ENSG00000127530 58 0 0 47 11 18.9655 CASP14 0 genome.wustl.edu 37 19 15166245 15166245 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 15166245 15166245 C T SNP CASP14 ENST00000221740 human ensembl 74_37 +1 known silent c.525 p.Y175 0.983 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP14 HGNC ENSG00000105141 133 0 0 80 19 19.1919 AKAP8 0 genome.wustl.edu 37 19 15472567 15472567 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 15472567 15472567 C T SNP AKAP8 ENST00000269701 human ensembl 74_37 -1 known missense c.1369 p.A457T 0.000 pfam_AKAP95 pfam_AKAP95 - no_errors AKAP8 HGNC ENSG00000105127 97 0 0 82 8 8.88889 AKAP8L 0 genome.wustl.edu 37 19 15511828 15511828 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 15511828 15511828 G A SNP AKAP8L ENST00000397410 human ensembl 74_37 -1 known silent c.843 p.G281 0.000 NULL pfam_AKAP95 - no_errors AKAP8L HGNC ENSG00000011243 18 0 0 25 8 24.2424 CYP4F3 0 genome.wustl.edu 37 19 15759982 15759982 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 15759982 15759982 C T SNP CYP4F3 ENST00000221307 human ensembl 74_37 +1 known missense c.538 p.L180F 0.925 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 CYP4F3 HGNC ENSG00000186529 36 0 0 23 10 30.303 CYP4F12 0 genome.wustl.edu 37 19 15807839 15807839 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 15807839 15807839 C T SNP CYP4F12 ENST00000324632 human ensembl 74_37 +1 known missense c.1519 p.R507C 1.000 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 CYP4F12 HGNC ENSG00000186204 46 0 0 23 4 14.8148 NWD1 0 genome.wustl.edu 37 19 16918398 16918398 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 16918398 16918398 C T SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known silent c.3738 p.G1246 0.037 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 133 0 0 101 34 25.1852 MYO9B 0 genome.wustl.edu 37 19 17295741 17295741 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 17295741 17295741 C T SNP MYO9B ENST00000594824 human ensembl 74_37 +1 known missense c.2441 p.S814F 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 120 0 0 77 23 23 USHBP1 0 genome.wustl.edu 37 19 17362446 17362446 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 17362446 17362446 G A SNP USHBP1 ENST00000252597 human ensembl 74_37 -1 known nonsense c.1867 p.R623* 0.074 NULL pfam_USH1C-bd_PDZ_domain - no_errors USHBP1 HGNC ENSG00000130307 87 0 0 50 23 31.5068 ANO8 0 genome.wustl.edu 37 19 17444229 17444229 + Splice_Site SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 17444229 17444229 G A SNP ANO8 ENST00000159087 human ensembl 74_37 -1 known splice_site c.350+2 e3+2 1.000 - - - no_errors ANO8 HGNC ENSG00000074855 73 0 0 42 15 26.3158 ANO8 0 genome.wustl.edu 37 19 17444267 17444267 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 17444267 17444267 C T SNP ANO8 ENST00000159087 human ensembl 74_37 -1 known missense c.314 p.R105H 0.737 NULL pfam_Anoctamin - no_errors ANO8 HGNC ENSG00000074855 91 0 0 50 11 18.0328 ANO8 0 genome.wustl.edu 37 19 17444269 17444269 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 17444269 17444269 C T SNP ANO8 ENST00000159087 human ensembl 74_37 -1 known silent c.312 p.T104 0.727 NULL pfam_Anoctamin - no_errors ANO8 HGNC ENSG00000074855 93 0 0 49 11 18.3333 PLVAP 0 genome.wustl.edu 37 19 17487766 17487766 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 17487766 17487766 C T SNP PLVAP ENST00000252590 human ensembl 74_37 -1 known missense c.332 p.R111H 1.000 pfam_PV-1 pfam_PV-1 - no_errors PLVAP HGNC ENSG00000130300 32 0 0 21 5 19.2308 SLC27A1 0 genome.wustl.edu 37 19 17615413 17615413 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 17615413 17615413 G A SNP SLC27A1 ENST00000252595 human ensembl 74_37 +1 known missense c.1933 p.A645T 0.001 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A1 HGNC ENSG00000130304 24 0 0 15 11 42.3077 COLGALT1 0 genome.wustl.edu 37 19 17678290 17678290 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 17678290 17678290 G A SNP COLGALT1 ENST00000252599 human ensembl 74_37 +1 known missense c.565 p.A189T 1.000 NULL pfam_Glyco_trans_25 - no_errors COLGALT1 HGNC ENSG00000130309 39 0 0 30 9 23.0769 SNORA68 0 genome.wustl.edu 37 19 17973433 17973433 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 17973433 17973433 C T SNP SNORA68 ENST00000384437 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNORA68 HGNC ENSG00000207166 251 0 0 152 52 25.4902 SLC5A5 0 genome.wustl.edu 37 19 17983460 17983460 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 17983460 17983460 G A SNP SLC5A5 ENST00000222248 human ensembl 74_37 +1 known missense c.332 p.R111H 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A5 HGNC ENSG00000105641 23 0 0 9 3 25 KCNN1 0 genome.wustl.edu 37 19 18092607 18092607 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 18092607 18092607 C T SNP KCNN1 ENST00000222249 human ensembl 74_37 +1 known silent c.588 p.C196 0.991 pfam_K_chnl_Ca-activ_SK,prints_K_chnl_Ca-activ_SK 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 KCNN1 HGNC ENSG00000105642 9 0 0 11 4 26.6667 PIK3R2 0 genome.wustl.edu 37 19 18273013 18273013 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 18273013 18273013 G A SNP PIK3R2 ENST00000222254 human ensembl 74_37 +1 known silent c.903 p.A301 0.650 NULL pfam_SH2,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R2 HGNC ENSG00000105647 17 0 0 14 7 33.3333 COMP 0 genome.wustl.edu 37 19 18899035 18899035 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 18899035 18899035 C T SNP COMP ENST00000222271 human ensembl 74_37 -1 known missense c.961 p.V321I 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 26 0 0 11 3 21.4286 UPF1 0 genome.wustl.edu 37 19 18974986 18974986 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 18974986 18974986 G A SNP UPF1 ENST00000599848 human ensembl 74_37 +1 known missense c.2816 p.R939H 1.000 NULL pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase - no_errors UPF1 HGNC ENSG00000005007 96 0 0 68 24 26.087 DDX49 0 genome.wustl.edu 37 19 19033426 19033426 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 19033426 19033426 G A SNP DDX49 ENST00000247003 human ensembl 74_37 +1 known missense c.649 p.E217K 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX49 HGNC ENSG00000105671 32 0 0 24 11 31.4286 SUGP2 0 genome.wustl.edu 37 19 19112441 19112441 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 19112441 19112441 C T SNP SUGP2 ENST00000337018 human ensembl 74_37 -1 known missense c.2972 p.R991H 0.987 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 55 0 0 47 18 27.6923 ARMC6 0 genome.wustl.edu 37 19 19153682 19153682 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 19153682 19153682 G A SNP ARMC6 ENST00000392336 human ensembl 74_37 +1 known silent c.192 p.S64 0.044 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC6 HGNC ENSG00000105676 64 0 0 34 15 30.6122 NCAN 0 genome.wustl.edu 37 19 19330022 19330022 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 19330022 19330022 G A SNP NCAN ENST00000252575 human ensembl 74_37 +1 known silent c.372 p.T124 0.939 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom 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 20 0 0 13 5 27.7778 NCAN 0 genome.wustl.edu 37 19 19337827 19337827 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 19337827 19337827 C T SNP NCAN ENST00000252575 human ensembl 74_37 +1 known silent c.1605 p.G535 0.001 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 33 0 0 21 11 34.375 HAPLN4 0 genome.wustl.edu 37 19 19369400 19369400 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 19369400 19369400 C T SNP HAPLN4 ENST00000291481 human ensembl 74_37 -1 known missense c.749 p.R250H 1.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN4 HGNC ENSG00000187664 26 0 0 14 6 30 MAU2 0 genome.wustl.edu 37 19 19452166 19452166 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 19452166 19452166 C T SNP MAU2 ENST00000262815 human ensembl 74_37 +1 known missense c.685 p.R229C 0.996 pfam_Cohesin_loading_factor pfam_Cohesin_loading_factor,smart_TPR_repeat - no_errors MAU2 HGNC ENSG00000129933 33 0 0 17 6 26.087 ZNF253 0 genome.wustl.edu 37 19 19989293 19989293 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 19989293 19989293 C T SNP ZNF253 ENST00000589717 human ensembl 74_37 +1 known missense c.7 p.P3S 0.003 superfamily_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 ZNF253 HGNC ENSG00000256771 180 0 0 108 29 21.1679 ZNF626 0 genome.wustl.edu 37 19 20807894 20807894 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 20807894 20807894 G A SNP ZNF626 ENST00000601440 human ensembl 74_37 -1 known silent c.789 p.G263 0.883 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 ZNF626 HGNC ENSG00000188171 115 0 0 108 11 9.2437 AP3D1 0 genome.wustl.edu 37 19 2114816 2114816 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 2114816 2114816 G A SNP AP3D1 ENST00000355272 human ensembl 74_37 -1 known missense c.2354 p.A785V 1.000 pfam_BLV_receptor,pirsf_AP3_complex_dsu pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu - no_errors AP3D1 HGNC ENSG00000065000 70 0 0 52 10 16.129 ZNF208 0 genome.wustl.edu 37 19 22156328 22156328 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 22156328 22156328 C T SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.1508 p.G503D 0.941 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 ZNF208 HGNC ENSG00000160321 85 0 0 81 17 17.3469 ZNF729 0 genome.wustl.edu 37 19 22496605 22496605 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 22496605 22496605 C T SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel missense c.386 p.A129V 0.107 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 ZNF729 HGNC ENSG00000196350 25 0 0 25 4 13.7931 PPAP2C 0 genome.wustl.edu 37 19 282274 282274 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 282274 282274 G A SNP PPAP2C ENST00000327790 human ensembl 74_37 -1 known missense c.640 p.R214W 0.748 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 PPAP2C HGNC ENSG00000141934 38 0 0 29 7 19.4444 ZNF554 0 genome.wustl.edu 37 19 2834253 2834253 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 2834253 2834253 C T SNP ZNF554 ENST00000317243 human ensembl 74_37 +1 known silent c.1020 p.S340 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 ZNF554 HGNC ENSG00000172006 99 0 0 65 22 25.2874 ZNF555 0 genome.wustl.edu 37 19 2852711 2852711 + Missense_Mutation SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 2852711 2852711 T A SNP ZNF555 ENST00000334241 human ensembl 74_37 +1 known missense c.648 p.N216K 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 ZNF555 HGNC ENSG00000186300 137 0 0 68 19 21.8391 ZNF555 0 genome.wustl.edu 37 19 2852932 2852932 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 2852932 2852932 C T SNP ZNF555 ENST00000334241 human ensembl 74_37 +1 known missense c.869 p.A290V 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 ZNF555 HGNC ENSG00000186300 90 0 0 57 22 27.8481 CCNE1 0 genome.wustl.edu 37 19 30313366 30313366 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 30313366 30313366 C T SNP CCNE1 ENST00000262643 human ensembl 74_37 +1 known silent c.966 p.C322 0.001 pfam_Cyclin_C-dom,superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNE1 HGNC ENSG00000105173 157 0 0 141 22 13.4969 CCNE1 0 genome.wustl.edu 37 19 30313453 30313453 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 30313453 30313453 C T SNP CCNE1 ENST00000262643 human ensembl 74_37 +1 known silent c.1053 p.G351 0.140 pfam_Cyclin_C-dom,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNE1 HGNC ENSG00000105173 241 0 0 167 59 26.1062 ZNF536 0 genome.wustl.edu 37 19 30935717 30935717 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 30935717 30935717 C T SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known silent c.1248 p.G416 0.948 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 32 0 0 25 11 30.5556 MIER2 0 genome.wustl.edu 37 19 312230 312230 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 312230 312230 C T SNP MIER2 ENST00000264819 human ensembl 74_37 -1 known missense c.850 p.A284T 1.000 superfamily_Homeodomain-like,pfscan_ELM2_dom pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER2 HGNC ENSG00000105556 58 0 0 22 8 26.6667 SLC7A9 0 genome.wustl.edu 37 19 33355554 33355554 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 33355554 33355554 G A SNP SLC7A9 ENST00000023064 human ensembl 74_37 -1 known silent c.216 p.C72 1.000 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A9 HGNC ENSG00000021488 58 0 0 40 11 21.5686 GPATCH1 0 genome.wustl.edu 37 19 33602674 33602674 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 33602674 33602674 C T SNP GPATCH1 ENST00000170564 human ensembl 74_37 +1 known nonsense c.1630 p.R544* 1.000 NULL pfam_DUF1604,pfam_G_patch_dom,superfamily_C-type_lectin_fold,pfscan_G_patch_dom - no_errors GPATCH1 HGNC ENSG00000076650 88 0 0 53 20 27.3973 PEPD 0 genome.wustl.edu 37 19 34002042 34002042 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 34002042 34002042 G A SNP PEPD ENST00000244137 human ensembl 74_37 -1 known missense c.221 p.A74V 0.995 pfam_Aminopep_P_N pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain - no_errors PEPD HGNC ENSG00000124299 37 0 0 25 8 24.2424 CHST8 0 genome.wustl.edu 37 19 34263263 34263263 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 34263263 34263263 C T SNP CHST8 ENST00000262622 human ensembl 74_37 +1 known silent c.570 p.H190 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST8 HGNC ENSG00000124302 29 0 0 18 7 28 CHST8 0 genome.wustl.edu 37 19 34263612 34263612 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 34263612 34263612 C T SNP CHST8 ENST00000262622 human ensembl 74_37 +1 known missense c.919 p.R307C 0.690 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST8 HGNC ENSG00000124302 35 0 0 19 7 26.9231 GPI 0 genome.wustl.edu 37 19 34856175 34856175 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 34856175 34856175 G A SNP GPI ENST00000415930 human ensembl 74_37 +1 known missense c.121 p.A41T 1.000 NULL pfam_G6P_Isomerase,prints_G6P_Isomerase - no_errors GPI HGNC ENSG00000105220 17 0 0 10 4 28.5714 DOHH 0 genome.wustl.edu 37 19 3496805 3496805 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 3496805 3496805 G A SNP DOHH ENST00000250937 human ensembl 74_37 -1 known missense c.8 p.T3M 0.954 NULL pfam_PBS_lyase_HEAT,superfamily_ARM-type_fold,smart_PBS_lyase_HEAT,pfscan_HEAT_type_2 - no_errors DOHH HGNC ENSG00000129932 29 0 0 24 5 17.2414 ZNF599 0 genome.wustl.edu 37 19 35250659 35250659 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 35250659 35250659 C T SNP ZNF599 ENST00000329285 human ensembl 74_37 -1 known silent c.1047 p.T349 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF599 HGNC ENSG00000153896 68 0 0 56 6 9.67742 ZNF30 0 genome.wustl.edu 37 19 35434572 35434572 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 35434572 35434572 C T SNP ZNF30 ENST00000303586 human ensembl 74_37 +1 known silent c.705 p.C235 0.049 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF30 HGNC ENSG00000168661 50 0 0 32 6 15.7895 TBXA2R 0 genome.wustl.edu 37 19 3600360 3600360 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 3600360 3600360 C T SNP TBXA2R ENST00000411851 human ensembl 74_37 -1 known silent c.273 p.A91 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn - no_errors TBXA2R HGNC ENSG00000006638 26 0 0 9 4 30.7692 ATP4A 0 genome.wustl.edu 37 19 36050941 36050941 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 36050941 36050941 G A SNP ATP4A ENST00000262623 human ensembl 74_37 -1 known silent c.822 p.D274 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,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 ATP4A HGNC ENSG00000105675 42 0 0 32 8 20 RBM42 0 genome.wustl.edu 37 19 36120532 36120532 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 36120532 36120532 C T SNP RBM42 ENST00000262633 human ensembl 74_37 +1 known missense c.239 p.A80V 0.901 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM42 HGNC ENSG00000126254 79 0 0 51 15 22.7273 KMT2B 0 genome.wustl.edu 37 19 36219029 36219029 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 36219029 36219029 G A SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known missense c.4528 p.A1510T 1.000 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 10 0 0 15 5 25 CACTIN 0 genome.wustl.edu 37 19 3624136 3624136 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 3624136 3624136 C T SNP CACTIN ENST00000248420 human ensembl 74_37 -1 known nonsense c.192 p.W64* 0.005 NULL pfam_Cactin_dom,pfam_Cactin_C - no_errors CACTIN HGNC ENSG00000105298 54 0 0 42 9 17.6471 WDR62 0 genome.wustl.edu 37 19 36583697 36583697 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 36583697 36583697 C T SNP WDR62 ENST00000401500 human ensembl 74_37 +1 known missense c.2317 p.R773W 0.048 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR62 HGNC ENSG00000075702 54 0 0 44 11 20 WDR62 0 genome.wustl.edu 37 19 36594764 36594764 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 36594764 36594764 G A SNP WDR62 ENST00000401500 human ensembl 74_37 +1 known missense c.4034 p.R1345H 0.903 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR62 HGNC ENSG00000075702 56 0 0 26 7 21.2121 CAPNS1 0 genome.wustl.edu 37 19 36634008 36634008 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 36634008 36634008 G A SNP CAPNS1 ENST00000588780 human ensembl 74_37 +1 known missense c.434 p.R145H 1.000 NULL pfscan_EF_hand_dom - no_errors CAPNS1 HGNC ENSG00000126247 169 0 0 117 38 24.5161 ZFP82 0 genome.wustl.edu 37 19 36884211 36884211 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 36884211 36884211 C A SNP ZFP82 ENST00000392161 human ensembl 74_37 -1 known missense c.1031 p.G344V 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP82 HGNC ENSG00000181007 140 0 0 82 25 23.3645 ZNF382 0 genome.wustl.edu 37 19 37118277 37118277 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 37118277 37118277 G A SNP ZNF382 ENST00000292928 human ensembl 74_37 +1 known missense c.1478 p.G493E 0.299 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF382 HGNC ENSG00000161298 103 0 0 77 21 21.4286 ZNF585A 0 genome.wustl.edu 37 19 37643373 37643373 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 37643373 37643373 G A SNP ZNF585A ENST00000356958 human ensembl 74_37 -1 known silent c.1428 p.T476 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 ZNF585A HGNC ENSG00000196967 138 0 0 101 31 23.4848 ZNF570 0 genome.wustl.edu 37 19 37966838 37966838 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 37966838 37966838 G A SNP ZNF570 ENST00000330173 human ensembl 74_37 +1 known missense c.89 p.C30Y 0.644 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 ZNF570 HGNC ENSG00000171827 81 0 0 57 21 26.9231 SIPA1L3 0 genome.wustl.edu 37 19 38600928 38600928 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 38600928 38600928 C T SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known missense c.2195 p.A732V 1.000 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 89 0 0 64 25 28.0899 RASGRP4 0 genome.wustl.edu 37 19 38901885 38901885 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 38901885 38901885 G A SNP RASGRP4 ENST00000587738 human ensembl 74_37 -1 known silent c.1722 p.C574 0.998 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_DAG/PE-bd pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP4 HGNC ENSG00000171777 21 0 0 12 8 40 RASGRP4 0 genome.wustl.edu 37 19 38910889 38910889 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 38910889 38910889 G A SNP RASGRP4 ENST00000587738 human ensembl 74_37 -1 known nonsense c.391 p.R131* 0.914 superfamily_Ras_GEF_dom,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP4 HGNC ENSG00000171777 10 0 0 8 6 42.8571 RYR1 0 genome.wustl.edu 37 19 38945909 38945909 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 38945909 38945909 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.1475 p.R492H 1.000 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 120 0 0 91 15 14.1509 RYR1 0 genome.wustl.edu 37 19 38958369 38958369 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 38958369 38958369 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.3298 p.R1100C 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 67 0 0 36 17 32.0755 RYR1 0 genome.wustl.edu 37 19 38976521 38976521 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 38976521 38976521 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known silent c.5226 p.R1742 0.993 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 59 0 0 50 12 19.3548 RYR1 0 genome.wustl.edu 37 19 39052042 39052042 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 39052042 39052042 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.12572 p.R4191H 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 61 0 0 41 11 21.1538 ATCAY 0 genome.wustl.edu 37 19 3907775 3907775 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 3907775 3907775 C T SNP ATCAY ENST00000301260 human ensembl 74_37 +1 known silent c.402 p.S134 0.928 pfam_Bcl2-/adenovirus-E1B pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors ATCAY HGNC ENSG00000167654 20 0 0 16 6 27.2727 MAP4K1 0 genome.wustl.edu 37 19 39104547 39104547 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 39104547 39104547 C T SNP MAP4K1 ENST00000591517 human ensembl 74_37 -1 known missense c.506 p.R169H 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_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP4K1 HGNC ENSG00000104814 13 0 0 15 6 28.5714 CAPN12 0 genome.wustl.edu 37 19 39229238 39229238 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 39229238 39229238 C T SNP CAPN12 ENST00000328867 human ensembl 74_37 -1 known silent c.780 p.A260 0.027 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_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN12 HGNC ENSG00000182472 59 0 0 45 9 16.6667 NFKBIB 0 genome.wustl.edu 37 19 39399417 39399417 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 39399417 39399417 G A SNP NFKBIB ENST00000313582 human ensembl 74_37 +1 known missense c.1016 p.R339Q 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors NFKBIB HGNC ENSG00000104825 46 0 0 35 8 18.6047 FBXO27 0 genome.wustl.edu 37 19 39516156 39516156 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 39516156 39516156 G A SNP FBXO27 ENST00000292853 human ensembl 74_37 -1 known silent c.747 p.R249 1.000 pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom pfam_F-box-assoc_dom,pfam_F-box_dom,superfamily_Galactose-bd-like,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom,pfscan_F-box-assoc_dom - no_errors FBXO27 HGNC ENSG00000161243 64 0 0 42 18 30 PAPL 0 genome.wustl.edu 37 19 39590899 39590899 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 39590899 39590899 G A SNP PAPL ENST00000331256 human ensembl 74_37 +1 known missense c.538 p.A180T 0.877 pfam_PEstase_dom pfam_PEstase_dom,superfamily_Purple_acid_Pase-like_N - no_errors PAPL Uniprot_gn ENSG00000183760 90 0 0 53 24 31.1688 EEF2 0 genome.wustl.edu 37 19 3983221 3983221 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 3983221 3983221 G A SNP EEF2 ENST00000309311 human ensembl 74_37 -1 known missense c.287 p.A96V 0.196 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,tigrfam_Small_GTP-bd_dom 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 32 0 0 15 8 34.7826 SUPT5H 0 genome.wustl.edu 37 19 39949669 39949669 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 39949669 39949669 C T SNP SUPT5H ENST00000432763 human ensembl 74_37 +1 known silent c.414 p.G138 0.999 pfam_Spt5_N,pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N_dom,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC ENSG00000196235 150 0 0 93 33 26.1905 PSMC4 0 genome.wustl.edu 37 19 40486604 40486604 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 40486604 40486604 A G SNP PSMC4 ENST00000157812 human ensembl 74_37 +1 known missense c.1123 p.I375V 1.000 superfamily_P-loop_NTPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC4 HGNC ENSG00000013275 94 0 0 84 8 8.69565 ZNF780B 0 genome.wustl.edu 37 19 40541185 40541185 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 40541185 40541185 C T SNP ZNF780B ENST00000434248 human ensembl 74_37 -1 known silent c.1581 p.K527 0.998 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF780B HGNC ENSG00000128000 94 0 0 92 10 9.80392 AKT2 0 genome.wustl.edu 37 19 40747910 40747910 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 40747910 40747910 G A SNP AKT2 ENST00000392038 human ensembl 74_37 -1 known missense c.508 p.R170W 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_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom - no_errors AKT2 HGNC ENSG00000105221 53 0 0 27 17 38.6364 HIPK4 0 genome.wustl.edu 37 19 40889788 40889788 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 40889788 40889788 C T SNP HIPK4 ENST00000291823 human ensembl 74_37 -1 known missense c.724 p.A242T 0.978 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 HIPK4 HGNC ENSG00000160396 41 0 0 37 6 13.9535 HIPK4 0 genome.wustl.edu 37 19 40895719 40895719 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 40895719 40895719 G A SNP HIPK4 ENST00000291823 human ensembl 74_37 -1 known missense c.91 p.R31W 0.962 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 HIPK4 HGNC ENSG00000160396 68 0 0 34 14 29.1667 SPTBN4 0 genome.wustl.edu 37 19 41019317 41019317 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 41019317 41019317 G A SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.2621 p.R874H 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 14 0 0 3 4 57.1429 AXL 0 genome.wustl.edu 37 19 41744377 41744377 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 41744377 41744377 C T SNP AXL ENST00000301178 human ensembl 74_37 +1 known missense c.997 p.P333S 1.000 superfamily_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 38 0 0 27 3 10 HNRNPUL1 0 genome.wustl.edu 37 19 41810156 41810156 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 41810156 41810156 G A SNP HNRNPUL1 ENST00000392006 human ensembl 74_37 +1 known missense c.2252 p.S751N 1.000 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 96 0 0 51 24 32 B9D2 0 genome.wustl.edu 37 19 41863924 41863924 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 41863924 41863924 G A SNP B9D2 ENST00000243578 human ensembl 74_37 -1 known missense c.92 p.A31V 0.998 pfam_B9_dom pfam_B9_dom - no_errors B9D2 HGNC ENSG00000123810 41 0 0 32 4 11.1111 BCKDHA 0 genome.wustl.edu 37 19 41884222 41884222 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 41884222 41884222 G A SNP BCKDHA ENST00000595085 human ensembl 74_37 +1 known missense c.8 p.S3N 0.001 NULL pfam_DH_E1,pfam_Transketolase_N - no_errors BCKDHA HGNC ENSG00000248098 79 0 0 81 12 12.9032 BCKDHA 0 genome.wustl.edu 37 19 41916541 41916541 + Splice_Site SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 41916541 41916541 G A SNP BCKDHA ENST00000595085 human ensembl 74_37 +1 known splice_site c.211-1 e2-1 0.123 - - - no_errors BCKDHA HGNC ENSG00000248098 32 0 0 22 13 37.1429 CD79A 0 genome.wustl.edu 37 19 42383170 42383170 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 42383170 42383170 G A SNP CD79A ENST00000221972 human ensembl 74_37 +1 known missense c.190 p.V64I 0.070 pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 59 0 0 42 5 10.6383 ARHGEF1 0 genome.wustl.edu 37 19 42409386 42409386 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 42409386 42409386 G A SNP ARHGEF1 ENST00000337665 human ensembl 74_37 +1 known missense c.2354 p.R785H 0.912 NULL pfam_RGS-like_dom,pfam_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF1 HGNC ENSG00000076928 50 0 0 28 16 36.3636 ZNF574 0 genome.wustl.edu 37 19 42584239 42584239 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 42584239 42584239 G A SNP ZNF574 ENST00000222339 human ensembl 74_37 +1 known missense c.1751 p.R584H 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF574 HGNC ENSG00000105732 74 0 0 62 19 23.4568 DEDD2 0 genome.wustl.edu 37 19 42703764 42703764 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 42703764 42703764 G A SNP DEDD2 ENST00000595337 human ensembl 74_37 -1 known silent c.807 p.G269 0.355 NULL pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED - no_errors DEDD2 HGNC ENSG00000160570 32 0 0 21 7 25 ZNF526 0 genome.wustl.edu 37 19 42729380 42729380 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 42729380 42729380 C T SNP ZNF526 ENST00000301215 human ensembl 74_37 +1 known silent c.825 p.C275 0.088 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF526 HGNC ENSG00000167625 22 0 0 7 8 53.3333 ERF 0 genome.wustl.edu 37 19 42753169 42753169 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 42753169 42753169 C T SNP ERF ENST00000222329 human ensembl 74_37 -1 known silent c.1095 p.S365 0.968 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ERF HGNC ENSG00000105722 46 0 0 32 9 21.9512 PRR19 0 genome.wustl.edu 37 19 42814738 42814738 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 42814738 42814738 C T SNP PRR19 ENST00000341747 human ensembl 74_37 +1 known missense c.917 p.P306L 0.002 NULL NULL - no_errors PRR19 HGNC ENSG00000188368 78 0 0 39 20 33.8983 PSG1 0 genome.wustl.edu 37 19 43383699 43383699 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 43383699 43383699 C T SNP PSG1 ENST00000312439 human ensembl 74_37 -1 known missense c.35 p.R12H 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG1 HGNC ENSG00000231924 140 1 0.70922 122 16 11.5942 MPND 0 genome.wustl.edu 37 19 4357406 4357406 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 4357406 4357406 G A SNP MPND ENST00000262966 human ensembl 74_37 +1 known missense c.1153 p.A385T 0.998 NULL pfam_JAB_MPN_dom - no_errors MPND HGNC ENSG00000008382 16 0 0 5 5 50 XRCC1 0 genome.wustl.edu 37 19 44056177 44056177 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 44056177 44056177 C T SNP XRCC1 ENST00000262887 human ensembl 74_37 -1 known silent c.1074 p.T358 0.992 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_Xrcc1_N,pfam_BRCT_dom,superfamily_Galactose-bd-like,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors XRCC1 HGNC ENSG00000073050 44 0 0 29 6 17.1429 CHAF1A 0 genome.wustl.edu 37 19 4409428 4409428 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 4409428 4409428 C T SNP CHAF1A ENST00000301280 human ensembl 74_37 +1 known missense c.632 p.T211M 0.000 NULL pfam_CAF1A - no_errors CHAF1A HGNC ENSG00000167670 55 0 0 27 9 25 ZNF230 0 genome.wustl.edu 37 19 44513032 44513032 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 44513032 44513032 G A SNP ZNF230 ENST00000429154 human ensembl 74_37 +1 known missense c.106 p.V36M 0.993 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 ZNF230 HGNC ENSG00000159882 188 0 0 127 51 28.6517 ZNF234 0 genome.wustl.edu 37 19 44661004 44661004 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 44661004 44661004 C T SNP ZNF234 ENST00000426739 human ensembl 74_37 +1 known nonsense c.835 p.Q279* 0.976 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 ZNF234 HGNC ENSG00000263002 215 0 0 182 19 9.45274 ZNF233 0 genome.wustl.edu 37 19 44778756 44778756 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 44778756 44778756 A G SNP ZNF233 ENST00000391958 human ensembl 74_37 +1 known missense c.1943 p.Y648C 0.003 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF233 HGNC ENSG00000159915 112 0 0 83 17 17 CBLC 0 genome.wustl.edu 37 19 45284250 45284250 + Missense_Mutation SNP A A C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 45284250 45284250 A C SNP CBLC ENST00000270279 human ensembl 74_37 +1 known missense c.442 p.M148L 0.040 pfam_Adaptor_Cbl_EF_hand-like pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Adaptor_Cbl_N_hlx,pfam_Znf_C3HC4_RING-type,superfamily_Adaptor_Cbl_N_hlx,smart_Znf_RING,pfscan_Znf_RING - no_errors CBLC HGNC ENSG00000142273 62 0 0 35 10 22.2222 BCAM 0 genome.wustl.edu 37 19 45316510 45316510 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 45316510 45316510 G A SNP BCAM ENST00000270233 human ensembl 74_37 +1 known missense c.508 p.A170T 0.978 pfam_CD80_C2-set,pfscan_Ig-like_dom pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors BCAM HGNC ENSG00000187244 41 0 0 29 10 25.641 TOMM40 0 genome.wustl.edu 37 19 45406321 45406321 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 45406321 45406321 G A SNP TOMM40 ENST00000252487 human ensembl 74_37 +1 known silent c.981 p.T327 0.965 pfam_Porin_Euk/Tom40 pfam_Porin_Euk/Tom40 - no_errors TOMM40 HGNC ENSG00000130204 37 0 0 32 4 11.1111 CKM 0 genome.wustl.edu 37 19 45810786 45810786 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 45810786 45810786 C T SNP CKM ENST00000221476 human ensembl 74_37 -1 known silent c.900 p.A300 0.999 pfam_ATP-guanido_PTrfase_cat pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N - no_errors CKM HGNC ENSG00000104879 32 0 0 20 6 23.0769 OPA3 0 genome.wustl.edu 37 19 46032371 46032371 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 46032371 46032371 G A SNP OPA3 ENST00000323060 human ensembl 74_37 -1 known silent c.486 p.H162 0.060 NULL pfam_OPA3-like - no_errors OPA3 HGNC ENSG00000125741 14 0 0 19 6 24 STRN4 0 genome.wustl.edu 37 19 47225261 47225261 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 47225261 47225261 C T SNP STRN4 ENST00000391910 human ensembl 74_37 -1 known missense c.2095 p.A699T 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Striatin_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors STRN4 HGNC ENSG00000090372 76 0 0 43 17 28.3333 C5AR1 0 genome.wustl.edu 37 19 47823356 47823356 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 47823356 47823356 G A SNP C5AR1 ENST00000355085 human ensembl 74_37 +1 known missense c.322 p.A108T 0.885 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_Anaphtx_C5AR1/C5AR2,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Brdyknn_rcpt,prints_Formyl_pep_rcpt - no_errors C5AR1 HGNC ENSG00000197405 39 0 0 39 9 18.75 DHX34 0 genome.wustl.edu 37 19 47876049 47876049 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 47876049 47876049 G A SNP DHX34 ENST00000328771 human ensembl 74_37 +1 known missense c.1831 p.A611T 1.000 pfam_Helicase-assoc_dom,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX34 HGNC ENSG00000134815 33 0 0 17 8 32 DHX34 0 genome.wustl.edu 37 19 47884536 47884536 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 47884536 47884536 G A SNP DHX34 ENST00000328771 human ensembl 74_37 +1 known missense c.3253 p.A1085T 0.725 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX34 HGNC ENSG00000134815 49 0 0 21 13 38.2353 FEM1A 0 genome.wustl.edu 37 19 4792951 4792951 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 4792951 4792951 C T SNP FEM1A ENST00000269856 human ensembl 74_37 +1 known missense c.1085 p.A362V 0.996 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 FEM1A HGNC ENSG00000141965 57 0 0 29 12 29.2683 NAPA 0 genome.wustl.edu 37 19 47995277 47995277 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 47995277 47995277 C T SNP NAPA ENST00000263354 human ensembl 74_37 -1 known missense c.661 p.A221T 1.000 NULL prints_NSF_attach - no_errors NAPA HGNC ENSG00000105402 73 0 0 52 14 21.2121 TICAM1 0 genome.wustl.edu 37 19 4816588 4816588 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 4816588 4816588 G A SNP TICAM1 ENST00000248244 human ensembl 74_37 -1 known missense c.1802 p.A601V 0.000 pirsf_TICAM1 superfamily_TIR_dom,pirsf_TICAM1 - no_errors TICAM1 HGNC ENSG00000127666 24 0 0 35 4 10.2564 TICAM1 0 genome.wustl.edu 37 19 4818028 4818028 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 4818028 4818028 G A SNP TICAM1 ENST00000248244 human ensembl 74_37 -1 known missense c.362 p.A121V 0.910 pirsf_TICAM1 superfamily_TIR_dom,pirsf_TICAM1 - no_errors TICAM1 HGNC ENSG00000127666 50 0 0 22 8 26.6667 ZNF114 0 genome.wustl.edu 37 19 48790081 48790081 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 48790081 48790081 G A SNP ZNF114 ENST00000315849 human ensembl 74_37 +1 known silent c.1200 p.S400 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF114 HGNC ENSG00000178150 159 0 0 104 36 25.7143 KDELR1 0 genome.wustl.edu 37 19 48887702 48887702 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 48887702 48887702 G A SNP KDELR1 ENST00000330720 human ensembl 74_37 -1 known missense c.389 p.A130V 1.000 pfam_ER_ret_rcpt,prints_ER_ret_rcpt pfam_ER_ret_rcpt,prints_ER_ret_rcpt - no_errors KDELR1 HGNC ENSG00000105438 29 0 0 20 7 25.9259 RASIP1 0 genome.wustl.edu 37 19 49227759 49227759 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 49227759 49227759 G A SNP RASIP1 ENST00000222145 human ensembl 74_37 -1 known silent c.2379 p.G793 0.993 pfam_Dil_domain,pfscan_Dilute pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc - no_errors RASIP1 HGNC ENSG00000105538 73 0 0 44 21 32.3077 NUCB1 0 genome.wustl.edu 37 19 49416353 49416353 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 49416353 49416353 G A SNP NUCB1 ENST00000263273 human ensembl 74_37 +1 known missense c.566 p.R189H 0.994 NULL pfscan_EF_hand_dom - no_errors NUCB1 HGNC ENSG00000104805 75 0 0 61 4 6.15385 DHDH 0 genome.wustl.edu 37 19 49442881 49442881 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 49442881 49442881 G A SNP DHDH ENST00000221403 human ensembl 74_37 +1 known missense c.542 p.C181Y 0.998 NULL pfam_Oxidoreductase_N - no_errors DHDH HGNC ENSG00000104808 72 0 0 51 21 29.1667 KCNA7 0 genome.wustl.edu 37 19 49575644 49575644 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 49575644 49575644 C T SNP KCNA7 ENST00000221444 human ensembl 74_37 -1 known missense c.199 p.A67T 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1 - no_errors KCNA7 HGNC ENSG00000104848 13 0 0 7 3 30 HRC 0 genome.wustl.edu 37 19 49657748 49657748 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 49657748 49657748 A G SNP HRC ENST00000252825 human ensembl 74_37 -1 known silent c.747 p.D249 0.849 pfam_Hist_rich_Ca-bd pfam_Hist_rich_Ca-bd - no_errors HRC HGNC ENSG00000130528 23 0 0 19 5 20.8333 TEAD2 0 genome.wustl.edu 37 19 49846621 49846621 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 49846621 49846621 G A SNP TEAD2 ENST00000311227 human ensembl 74_37 -1 known missense c.944 p.A315V 0.854 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD2 HGNC ENSG00000074219 68 0 0 53 6 10.1695 FUZ 0 genome.wustl.edu 37 19 50314650 50314650 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 50314650 50314650 G A SNP FUZ ENST00000313777 human ensembl 74_37 -1 known silent c.462 p.C154 0.112 NULL NULL - no_errors FUZ HGNC ENSG00000010361 22 0 0 16 5 23.8095 MED25 0 genome.wustl.edu 37 19 50334046 50334046 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 50334046 50334046 G A SNP MED25 ENST00000312865 human ensembl 74_37 +1 known missense c.1003 p.A335T 0.924 pfam_Mediator_Med25_SD1 pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box - no_errors MED25 HGNC ENSG00000104973 28 0 0 9 4 30.7692 PNKP 0 genome.wustl.edu 37 19 50367620 50367620 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 50367620 50367620 C T SNP PNKP ENST00000322344 human ensembl 74_37 -1 known missense c.539 p.R180H 0.250 pfam_PNK3P,superfamily_HAD-like_dom,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA pfam_PNK3P,superfamily_HAD-like_dom,superfamily_SMAD_FHA_domain,superfamily_P-loop_NTPase,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA - no_errors PNKP HGNC ENSG00000039650 194 0 0 98 8 7.54717 IL4I1 0 genome.wustl.edu 37 19 50393017 50393017 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 50393017 50393017 C T SNP IL4I1 ENST00000341114 human ensembl 74_37 -1 known silent c.1680 p.S560 0.000 NULL pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_AlaDH/PNT_NAD(H)-bd,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors IL4I1 HGNC ENSG00000104951 35 0 0 20 9 31.0345 KDM4B 0 genome.wustl.edu 37 19 5041189 5041189 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 5041189 5041189 G A SNP KDM4B ENST00000159111 human ensembl 74_37 +1 known missense c.359 p.R120H 1.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 105 1 0.943396 66 7 9.58904 IZUMO2 0 genome.wustl.edu 37 19 50655902 50655902 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 50655902 50655902 A G SNP IZUMO2 ENST00000293405 human ensembl 74_37 -1 known silent c.630 p.C210 0.000 NULL NULL - no_errors IZUMO2 HGNC ENSG00000161652 233 0 0 177 56 24.0343 KDM4B 0 genome.wustl.edu 37 19 5082431 5082431 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 5082431 5082431 C T SNP KDM4B ENST00000159111 human ensembl 74_37 +1 known silent c.834 p.A278 0.004 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 31 0 0 21 6 22.2222 POLD1 0 genome.wustl.edu 37 19 50905147 50905147 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 50905147 50905147 C T SNP POLD1 ENST00000440232 human ensembl 74_37 +1 known silent c.429 p.G143 1.000 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 54 0 0 36 5 12.1951 JOSD2 0 genome.wustl.edu 37 19 51009492 51009492 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 51009492 51009492 C T SNP JOSD2 ENST00000391815 human ensembl 74_37 -1 known missense c.505 p.E169K 0.976 pfam_Josephin,pfscan_Josephin pfam_Josephin,prints_Josephin,pfscan_Josephin - no_errors JOSD2 HGNC ENSG00000161677 30 0 0 16 6 27.2727 LRRC4B 0 genome.wustl.edu 37 19 51021314 51021314 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 51021314 51021314 C T SNP LRRC4B ENST00000389201 human ensembl 74_37 -1 known silent c.1656 p.A552 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 33 0 0 17 8 32 SHANK1 0 genome.wustl.edu 37 19 51217085 51217085 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 51217085 51217085 G A SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known silent c.762 p.A254 0.986 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 31 0 0 26 3 10.3448 SIGLEC10 0 genome.wustl.edu 37 19 51920664 51920664 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 51920664 51920664 C T SNP SIGLEC10 ENST00000339313 human ensembl 74_37 -1 known silent c.93 p.V31 0.002 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC10 HGNC ENSG00000142512 63 0 0 41 14 25.4545 PTPRS 0 genome.wustl.edu 37 19 5206828 5206828 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 5206828 5206828 G A SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.5807 p.A1936V 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,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 81 0 0 64 18 21.9512 PTPRS 0 genome.wustl.edu 37 19 5244179 5244179 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 5244179 5244179 C A SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.1306 p.A436S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 54 0 0 28 13 31.7073 ZNF350 0 genome.wustl.edu 37 19 52477672 52477672 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 52477672 52477672 G A SNP ZNF350 ENST00000600703 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors ZNF350 HGNC ENSG00000256683 118 0 0 92 16 14.8148 ZNF615 0 genome.wustl.edu 37 19 52496650 52496650 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 52496650 52496650 C T SNP ZNF615 ENST00000594083 human ensembl 74_37 -1 known missense c.1712 p.R571H 0.005 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF615 HGNC ENSG00000197619 129 0 0 109 10 8.40336 ZNF614 0 genome.wustl.edu 37 19 52519532 52519532 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 52519532 52519532 C T SNP ZNF614 ENST00000270649 human ensembl 74_37 -1 known missense c.1319 p.R440H 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 ZNF614 HGNC ENSG00000142556 159 0 0 107 54 33.5404 ZNF616 0 genome.wustl.edu 37 19 52619372 52619372 + Nonsense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 52619372 52619372 C A SNP ZNF616 ENST00000600228 human ensembl 74_37 -1 known nonsense c.1045 p.G349* 0.471 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 195 0 0 104 63 37.7246 PPP2R1A 0 genome.wustl.edu 37 19 52714620 52714620 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 52714620 52714620 G A SNP PPP2R1A ENST00000322088 human ensembl 74_37 +1 known silent c.378 p.A126 0.962 superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1A HGNC ENSG00000105568 55 0 0 33 16 32.6531 ZNF480 0 genome.wustl.edu 37 19 52825210 52825210 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 52825210 52825210 G A SNP ZNF480 ENST00000468240 human ensembl 74_37 +1 known missense c.707 p.C236Y 0.993 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 ZNF480 HGNC ENSG00000198464 75 0 0 47 16 25.3968 ZNF480 0 genome.wustl.edu 37 19 52825228 52825228 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 52825228 52825228 G A SNP ZNF480 ENST00000468240 human ensembl 74_37 +1 known missense c.725 p.R242H 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 ZNF480 HGNC ENSG00000198464 72 0 0 42 16 27.5862 ZNF528 0 genome.wustl.edu 37 19 52919279 52919279 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 52919279 52919279 C T SNP ZNF528 ENST00000360465 human ensembl 74_37 +1 known missense c.1174 p.R392C 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF528 HGNC ENSG00000167555 105 1 0.943396 60 21 25.9259 ZNF611 0 genome.wustl.edu 37 19 53208665 53208665 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 53208665 53208665 G A SNP ZNF611 ENST00000319783 human ensembl 74_37 -1 known missense c.1643 p.A548V 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF611 HGNC ENSG00000213020 266 0 0 232 26 10.0775 ZNF28 0 genome.wustl.edu 37 19 53311235 53311235 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 53311235 53311235 C T SNP ZNF28 ENST00000464469 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF28 HGNC ENSG00000198538 149 0 0 93 32 25.6 ZNF845 0 genome.wustl.edu 37 19 53848784 53848784 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 53848784 53848784 C T SNP ZNF845 ENST00000458035 human ensembl 74_37 +1 known missense c.41 p.A14V 0.992 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 ZNF845 HGNC ENSG00000213799 250 0 0 146 42 22.3404 ZNF331 0 genome.wustl.edu 37 19 54080668 54080668 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 54080668 54080668 G A SNP ZNF331 ENST00000253144 human ensembl 74_37 +1 known missense c.854 p.S285N 0.034 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF331 HGNC ENSG00000130844 105 0 0 61 22 26.506 MYADM 0 genome.wustl.edu 37 19 54376938 54376938 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 54376938 54376938 C T SNP MYADM ENST00000336967 human ensembl 74_37 +1 known missense c.155 p.S52L 0.859 pfam_Marvel pfam_Marvel - no_errors MYADM HGNC ENSG00000179820 50 0 0 31 9 22.5 MYADM 0 genome.wustl.edu 37 19 54377441 54377441 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 54377441 54377441 G A SNP MYADM ENST00000336967 human ensembl 74_37 +1 known missense c.658 p.A220T 0.926 pfam_Marvel pfam_Marvel - no_errors MYADM HGNC ENSG00000179820 69 0 0 63 10 13.6986 PRKCG 0 genome.wustl.edu 37 19 54410004 54410004 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 54410004 54410004 C T SNP PRKCG ENST00000540413 human ensembl 74_37 +1 known missense c.1949 p.A650V 0.568 pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors PRKCG HGNC ENSG00000126583 47 0 0 37 4 9.7561 TFPT 0 genome.wustl.edu 37 19 54618073 54618073 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 54618073 54618073 C T SNP TFPT ENST00000391759 human ensembl 74_37 -1 known missense c.31 p.A11T 1.000 NULL NULL - no_errors TFPT HGNC ENSG00000105619 83 0 0 55 15 21.4286 TMC4 0 genome.wustl.edu 37 19 54667393 54667393 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 54667393 54667393 G A SNP TMC4 ENST00000416963 human ensembl 74_37 -1 known silent c.33 p.G11 0.000 NULL pfam_TMC - no_errors TMC4 HGNC ENSG00000167608 55 0 0 37 23 38.3333 TMC4 0 genome.wustl.edu 37 19 54669181 54669181 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 54669181 54669181 C T SNP TMC4 ENST00000301187 human ensembl 74_37 -1 known missense c.917 p.R306H 0.999 NULL pfam_TMC - no_errors TMC4 HGNC ENSG00000167608 18 0 0 11 6 35.2941 LILRA4 0 genome.wustl.edu 37 19 54848127 54848127 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 54848127 54848127 C T SNP LILRA4 ENST00000291759 human ensembl 74_37 -1 known missense c.1240 p.E414K 0.014 smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA4 HGNC ENSG00000239961 120 0 0 99 7 6.60377 LENG8 0 genome.wustl.edu 37 19 54967409 54967409 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 54967409 54967409 G A SNP LENG8 ENST00000326764 human ensembl 74_37 +1 known missense c.1289 p.R430H 1.000 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors LENG8 HGNC ENSG00000167615 93 0 0 67 18 21.1765 LILRB1 0 genome.wustl.edu 37 19 55143618 55143618 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 55143618 55143618 C T SNP LILRB1 ENST00000324602 human ensembl 74_37 +1 known silent c.591 p.C197 0.010 smart_Ig_sub smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB1 HGNC ENSG00000104972 108 0 0 108 7 6.08696 ENSG00000215765 0 genome.wustl.edu 37 19 55301513 55301513 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 55301513 55301513 G A SNP ENSG00000215765 ENST00000400864 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors CTB-61M7.1 Clone_based_vega_gene ENSG00000215765 24 0 0 16 4 20 RDH13 0 genome.wustl.edu 37 19 55568079 55568079 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 55568079 55568079 C T SNP RDH13 ENST00000415061 human ensembl 74_37 -1 known silent c.282 p.R94 0.903 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH13 HGNC ENSG00000160439 38 0 0 35 7 16.6667 PPP6R1 0 genome.wustl.edu 37 19 55742810 55742810 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 55742810 55742810 G A SNP PPP6R1 ENST00000412770 human ensembl 74_37 -1 known silent c.2427 p.H809 0.539 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R1 HGNC ENSG00000105063 11 0 0 2 3 60 ZNF581 0 genome.wustl.edu 37 19 56156449 56156449 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 56156449 56156449 G A SNP ZNF581 ENST00000270451 human ensembl 74_37 +1 known missense c.512 p.R171H 0.986 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF581 HGNC ENSG00000171425 79 0 0 29 13 30.9524 NLRP4 0 genome.wustl.edu 37 19 56369066 56369066 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 56369066 56369066 G A SNP NLRP4 ENST00000301295 human ensembl 74_37 +1 known missense c.307 p.A103T 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC ENSG00000160505 93 0 0 85 9 9.57447 NLRP4 0 genome.wustl.edu 37 19 56382267 56382267 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 56382267 56382267 G A SNP NLRP4 ENST00000301295 human ensembl 74_37 +1 known missense c.2429 p.R810H 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC ENSG00000160505 85 0 0 83 17 17 ZNF787 0 genome.wustl.edu 37 19 56600116 56600116 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 56600116 56600116 C T SNP ZNF787 ENST00000270459 human ensembl 74_37 -1 known missense c.425 p.R142H 1.000 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 34 0 0 32 10 23.8095 ZNF470 0 genome.wustl.edu 37 19 57081729 57081729 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 57081729 57081729 G A SNP ZNF470 ENST00000330619 human ensembl 74_37 +1 known missense c.49 p.A17T 0.212 superfamily_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 ZNF470 HGNC ENSG00000197016 64 0 0 44 12 21.4286 ZNF71 0 genome.wustl.edu 37 19 57133474 57133474 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 57133474 57133474 C T SNP ZNF71 ENST00000328070 human ensembl 74_37 +1 known silent c.819 p.P273 0.000 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 61 0 0 31 20 39.2157 ZNF835 0 genome.wustl.edu 37 19 57175802 57175802 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 57175802 57175802 G A SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known silent c.765 p.C255 0.386 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 35 0 0 33 9 21.4286 ZNF835 0 genome.wustl.edu 37 19 57176545 57176545 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 57176545 57176545 C T SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known missense c.22 p.A8T 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 58 0 0 44 10 18.5185 PEG3 0 genome.wustl.edu 37 19 57327787 57327787 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 57327787 57327787 G A SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.2023 p.R675C 0.986 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 159 0 0 94 38 28.7879 ZNF547 0 genome.wustl.edu 37 19 57889141 57889141 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 57889141 57889141 G T SNP ZNF547 ENST00000282282 human ensembl 74_37 +1 known missense c.797 p.R266M 0.023 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 ZNF547 HGNC ENSG00000152433 131 0 0 107 7 6.14035 ZNF773 0 genome.wustl.edu 37 19 58018779 58018779 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 58018779 58018779 G A SNP ZNF773 ENST00000282292 human ensembl 74_37 +1 known missense c.1316 p.G439E 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF773 HGNC ENSG00000152439 58 0 0 40 13 24.5283 ZNF550 0 genome.wustl.edu 37 19 58059290 58059290 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 58059290 58059290 G A SNP ZNF550 ENST00000376230 human ensembl 74_37 -1 known missense c.322 p.R108W 0.022 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF550 HGNC ENSG00000251369 190 1 0.52356 114 30 20.8333 ZNF416 0 genome.wustl.edu 37 19 58084160 58084160 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 58084160 58084160 C T SNP ZNF416 ENST00000196489 human ensembl 74_37 -1 known missense c.1112 p.R371Q 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 ZNF416 HGNC ENSG00000083817 84 0 0 90 9 9.09091 ZNF551 0 genome.wustl.edu 37 19 58199015 58199015 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 58199015 58199015 C T SNP ZNF551 ENST00000282296 human ensembl 74_37 +1 known nonsense c.1372 p.Q458* 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 ZNF551 HGNC ENSG00000204519 113 0 0 94 19 16.8142 ZNF587B 0 genome.wustl.edu 37 19 58350411 58350411 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 58350411 58350411 C T SNP ZNF587B ENST00000442832 human ensembl 74_37 +1 known silent c.57 p.D19 0.002 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 ZNF587B HGNC ENSG00000269343 59 0 0 47 8 14.5455 ZNF587B 0 genome.wustl.edu 37 19 58352434 58352434 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 58352434 58352434 A G SNP ZNF587B ENST00000442832 human ensembl 74_37 +1 known missense c.392 p.D131G 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF587B HGNC ENSG00000269343 35 0 0 27 6 18.1818 ZNF587B 0 genome.wustl.edu 37 19 58352696 58352696 + Missense_Mutation SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 58352696 58352696 T A SNP ZNF587B ENST00000442832 human ensembl 74_37 +1 known missense c.654 p.D218E 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 ZNF587B HGNC ENSG00000269343 25 0 0 30 7 18.9189 ZNF606 0 genome.wustl.edu 37 19 58512008 58512008 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 58512008 58512008 G A SNP ZNF606 ENST00000546715 human ensembl 74_37 -1 putative missense c.131 p.A44V 0.000 NULL NULL - no_errors ZNF606 HGNC ENSG00000166704 33 0 0 21 4 16 ZNF329 0 genome.wustl.edu 37 19 58639657 58639657 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 58639657 58639657 C T SNP ZNF329 ENST00000358067 human ensembl 74_37 -1 known missense c.1214 p.G405D 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF329 HGNC ENSG00000181894 74 0 0 59 11 15.7143 ZNF274 0 genome.wustl.edu 37 19 58724308 58724308 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 58724308 58724308 C T SNP ZNF274 ENST00000326804 human ensembl 74_37 +1 known silent c.1758 p.G586 0.438 pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF274 HGNC ENSG00000171606 98 0 0 71 7 8.97436 ZSCAN22 0 genome.wustl.edu 37 19 58850178 58850178 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 58850178 58850178 C T SNP ZSCAN22 ENST00000329665 human ensembl 74_37 +1 known missense c.962 p.A321V 0.870 pfscan_Znf_C2H2 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 ZSCAN22 HGNC ENSG00000182318 100 0 0 68 25 26.8817 ZNF497 0 genome.wustl.edu 37 19 58867953 58867953 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 58867953 58867953 C T SNP ZNF497 ENST00000311044 human ensembl 74_37 -1 known missense c.1049 p.R350H 0.003 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF497 HGNC ENSG00000174586 14 0 0 0 3 100 RFX2 0 genome.wustl.edu 37 19 6004294 6004294 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 6004294 6004294 G A SNP RFX2 ENST00000303657 human ensembl 74_37 -1 known missense c.1418 p.A473V 1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX2 HGNC ENSG00000087903 79 0 0 74 6 7.5 C3 0 genome.wustl.edu 37 19 6711033 6711033 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 6711033 6711033 C T SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.1444 p.A482T 0.000 pfam_A2M_N_2 pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,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,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 150 0 0 89 28 23.9316 GPR108 0 genome.wustl.edu 37 19 6732509 6732509 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 6732509 6732509 C T SNP GPR108 ENST00000264080 human ensembl 74_37 -1 known missense c.985 p.V329I 0.998 pfam_TM_rcpt_euk pfam_TM_rcpt_euk - no_errors GPR108 HGNC ENSG00000125734 32 0 0 24 3 11.1111 ZNF557 0 genome.wustl.edu 37 19 7076449 7076449 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 7076449 7076449 C T SNP ZNF557 ENST00000252840 human ensembl 74_37 +1 known silent c.178 p.L60 0.103 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 ZNF557 HGNC ENSG00000130544 139 0 0 92 10 9.80392 INSR 0 genome.wustl.edu 37 19 7141702 7141702 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 7141702 7141702 G A SNP INSR ENST00000302850 human ensembl 74_37 -1 known nonsense c.2668 p.R890* 0.914 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSR HGNC ENSG00000171105 49 0 0 36 9 20 INSR 0 genome.wustl.edu 37 19 7170578 7170578 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 7170578 7170578 C T SNP INSR ENST00000302850 human ensembl 74_37 -1 known missense c.1453 p.A485T 0.981 pirsf_Tyr_kinase_insulin-like_rcpt pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSR HGNC ENSG00000171105 160 0 0 90 40 30.7692 ARHGEF18 0 genome.wustl.edu 37 19 7509198 7509198 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 7509198 7509198 G A SNP ARHGEF18 ENST00000359920 human ensembl 74_37 +1 known missense c.905 p.R302H 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF18 HGNC ENSG00000104880 40 0 0 24 7 22.5806 MISP 0 genome.wustl.edu 37 19 757730 757730 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 757730 757730 C T SNP MISP ENST00000215582 human ensembl 74_37 +1 known missense c.784 p.R262C 0.000 NULL NULL - no_errors MISP HGNC ENSG00000099812 39 0 0 15 9 37.5 PNPLA6 0 genome.wustl.edu 37 19 7614956 7614956 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 7614956 7614956 G A SNP PNPLA6 ENST00000414982 human ensembl 74_37 +1 known missense c.1799 p.R600H 0.966 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC ENSG00000032444 101 0 0 74 12 13.9535 XAB2 0 genome.wustl.edu 37 19 7687312 7687312 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 7687312 7687312 C T SNP XAB2 ENST00000358368 human ensembl 74_37 -1 known missense c.1522 p.D508N 1.000 smart_HAT smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC ENSG00000076924 116 0 0 84 25 22.9358 STXBP2 0 genome.wustl.edu 37 19 7703933 7703933 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 7703933 7703933 G A SNP STXBP2 ENST00000221283 human ensembl 74_37 +1 known missense c.116 p.R39H 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP2 HGNC ENSG00000076944 50 0 0 36 5 12.1951 CLEC4M 0 genome.wustl.edu 37 19 7831687 7831687 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 7831687 7831687 G T SNP CLEC4M ENST00000327325 human ensembl 74_37 +1 known missense c.930 p.E310D 0.061 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4M HGNC ENSG00000104938 66 0 0 39 8 17.0213 LRRC8E 0 genome.wustl.edu 37 19 7965043 7965043 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 7965043 7965043 G A SNP LRRC8E ENST00000306708 human ensembl 74_37 +1 known missense c.1636 p.A546T 0.775 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8E HGNC ENSG00000171017 25 0 0 22 4 15.3846 MAP2K7 0 genome.wustl.edu 37 19 7975375 7975375 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 7975375 7975375 G A SNP MAP2K7 ENST00000545011 human ensembl 74_37 +1 known missense c.611 p.R204H 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP2K7 HGNC ENSG00000076984 23 0 0 8 6 42.8571 FBN3 0 genome.wustl.edu 37 19 8136980 8136980 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 8136980 8136980 G A SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known silent c.8040 p.G2680 0.997 pirsf_FBN 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 105 0 0 59 9 13.2353 LPPR3 0 genome.wustl.edu 37 19 814918 814918 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 814918 814918 G A SNP LPPR3 ENST00000359894 human ensembl 74_37 -1 known silent c.567 p.S189 0.280 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 LPPR3 Uniprot_gn ENSG00000129951 30 0 0 17 4 19.0476 PRAM1 0 genome.wustl.edu 37 19 8564477 8564477 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 8564477 8564477 G A SNP PRAM1 ENST00000423345 human ensembl 74_37 -1 known missense c.215 p.P72L 0.005 NULL superfamily_SH3_domain - no_errors PRAM1 HGNC ENSG00000133246 65 0 0 42 6 12.5 MYO1F 0 genome.wustl.edu 37 19 8604860 8604860 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 8604860 8604860 G A SNP MYO1F ENST00000338257 human ensembl 74_37 -1 known missense c.1663 p.R555C 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC ENSG00000142347 26 0 0 14 10 41.6667 CFD 0 genome.wustl.edu 37 19 860951 860951 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 860951 860951 G A SNP CFD ENST00000327726 human ensembl 74_37 +1 known silent c.303 p.V101 0.003 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors CFD HGNC ENSG00000197766 12 0 0 10 3 23.0769 MYO1F 0 genome.wustl.edu 37 19 8618252 8618252 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 8618252 8618252 G A SNP MYO1F ENST00000338257 human ensembl 74_37 -1 known silent c.396 p.G132 0.295 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC ENSG00000142347 65 0 0 78 6 7.14286 ACTL9 0 genome.wustl.edu 37 19 8808718 8808718 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 8808718 8808718 G A SNP ACTL9 ENST00000324436 human ensembl 74_37 -1 known nonsense c.334 p.Q112* 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL9 HGNC ENSG00000181786 23 0 0 12 4 25 ZNF558 0 genome.wustl.edu 37 19 8932718 8932718 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 8932718 8932718 G A SNP ZNF558 ENST00000301475 human ensembl 74_37 -1 known silent c.81 p.G27 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 ZNF558 HGNC ENSG00000167785 163 0 0 107 27 20.1493 MUC16 0 genome.wustl.edu 37 19 9047264 9047264 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 9047264 9047264 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.34367 p.A11456V 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 145 0 0 91 30 24.7934 MUC16 0 genome.wustl.edu 37 19 9067419 9067419 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 9067419 9067419 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.20027 p.A6676V 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 184 0 0 162 20 10.989 MUC16 0 genome.wustl.edu 37 19 9070156 9070156 + Missense_Mutation SNP T T G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 9070156 9070156 T G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.17290 p.T5764P 0.002 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 153 1 0.649351 111 48 30.1887 MUC16 0 genome.wustl.edu 37 19 9070335 9070335 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 9070335 9070335 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.17111 p.T5704N 0.010 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 93 0 0 54 19 26.0274 MUC16 0 genome.wustl.edu 37 19 9075638 9075638 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 9075638 9075638 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.11808 p.E3936 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 37 0 0 28 5 15.1515 OR7D2 0 genome.wustl.edu 37 19 9297198 9297198 + Silent SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 9297198 9297198 C A SNP OR7D2 ENST00000344248 human ensembl 74_37 +1 known silent c.741 p.V247 0.042 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7D2 HGNC ENSG00000188000 81 0 0 73 23 23.9583 ZNF560 0 genome.wustl.edu 37 19 9577561 9577561 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 9577561 9577561 C T SNP ZNF560 ENST00000301480 human ensembl 74_37 -1 known missense c.2062 p.A688T 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 ZNF560 HGNC ENSG00000198028 160 0 0 101 35 25.7353 FBXL12 0 genome.wustl.edu 37 19 9922250 9922250 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 9922250 9922250 G A SNP FBXL12 ENST00000247977 human ensembl 74_37 -1 known silent c.303 p.C101 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXL12 HGNC ENSG00000127452 75 0 0 36 16 30.7692 TAF1B 0 genome.wustl.edu 37 2 10050891 10050891 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 10050891 10050891 G A SNP TAF1B ENST00000263663 human ensembl 74_37 +1 known missense c.982 p.V328M 0.936 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 86 0 0 62 20 24.3902 TBC1D8 0 genome.wustl.edu 37 2 101627911 101627911 + Splice_Site SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 101627911 101627911 G A SNP TBC1D8 ENST00000409318 human ensembl 74_37 -1 known splice_site c.2917+2 e18+2 0.833 - - - no_errors TBC1D8 HGNC ENSG00000204634 86 0 0 90 6 6.25 IL1RL1 0 genome.wustl.edu 37 2 102965663 102965663 + Silent SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 102965663 102965663 C A SNP IL1RL1 ENST00000233954 human ensembl 74_37 +1 known silent c.1242 p.G414 0.911 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,prints_IL-1_rcpt_I/II-typ,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL1RL1 HGNC ENSG00000115602 117 0 0 103 7 6.36364 MFSD9 0 genome.wustl.edu 37 2 103334879 103334879 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 103334879 103334879 C T SNP MFSD9 ENST00000258436 human ensembl 74_37 -1 known silent c.1425 p.*475 0.703 NULL pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors MFSD9 HGNC ENSG00000135953 121 0 0 102 6 5.55556 MRPS9 0 genome.wustl.edu 37 2 105713663 105713663 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 105713663 105713663 A G SNP MRPS9 ENST00000258455 human ensembl 74_37 +1 known missense c.980 p.D327G 1.000 pfam_Ribosomal_S9,superfamily_Ribosomal_S5_D2-typ_fold pfam_Ribosomal_S9,superfamily_Ribosomal_S5_D2-typ_fold - no_errors MRPS9 HGNC ENSG00000135972 78 0 0 56 5 8.19672 ODC1 0 genome.wustl.edu 37 2 10581770 10581770 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 10581770 10581770 C T SNP ODC1 ENST00000234111 human ensembl 74_37 -1 known missense c.1106 p.R369H 1.000 pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase - no_errors ODC1 HGNC ENSG00000115758 60 0 0 53 26 32.9114 GPR45 0 genome.wustl.edu 37 2 105858977 105858977 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 105858977 105858977 C T SNP GPR45 ENST00000258456 human ensembl 74_37 +1 known missense c.662 p.T221M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR45 HGNC ENSG00000135973 41 0 0 29 14 32.5581 NCK2 0 genome.wustl.edu 37 2 106498353 106498353 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 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 30 0 0 30 4 11.7647 ST6GAL2 0 genome.wustl.edu 37 2 107460198 107460198 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 107460198 107460198 G A SNP ST6GAL2 ENST00000361686 human ensembl 74_37 -1 known missense c.236 p.A79V 0.000 NULL pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 27 0 0 18 8 30.7692 RGPD4 0 genome.wustl.edu 37 2 108455331 108455331 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 108455331 108455331 A G SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known missense c.316 p.K106E 0.935 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 92 0 0 63 27 30 SLC5A7 0 genome.wustl.edu 37 2 108618435 108618435 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 108618435 108618435 C T SNP SLC5A7 ENST00000264047 human ensembl 74_37 +1 known missense c.680 p.P227L 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter - no_errors SLC5A7 HGNC ENSG00000115665 92 0 0 67 11 14.1026 SULT1C3 0 genome.wustl.edu 37 2 108868906 108868906 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 108868906 108868906 A G SNP SULT1C3 ENST00000329106 human ensembl 74_37 +1 known silent c.258 p.R86 0.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1C3 HGNC ENSG00000196228 79 0 0 52 3 5.45455 RANBP2 0 genome.wustl.edu 37 2 109382686 109382686 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 109382686 109382686 A G SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known silent c.5691 p.G1897 0.825 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 228 1 0.436681 209 20 8.73362 KCNF1 0 genome.wustl.edu 37 2 11053250 11053250 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 11053250 11053250 T C SNP KCNF1 ENST00000295082 human ensembl 74_37 +1 known missense c.698 p.F233S 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv6 - no_errors KCNF1 HGNC ENSG00000162975 36 0 0 25 7 21.875 KCNF1 0 genome.wustl.edu 37 2 11053818 11053818 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 11053818 11053818 G A SNP KCNF1 ENST00000295082 human ensembl 74_37 +1 known silent c.1266 p.A422 0.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv6 - no_errors KCNF1 HGNC ENSG00000162975 30 0 0 10 6 37.5 NPHP1 0 genome.wustl.edu 37 2 110927445 110927445 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 110927445 110927445 C T SNP NPHP1 ENST00000316534 human ensembl 74_37 -1 known missense c.460 p.G154S 0.000 superfamily_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NPHP1 HGNC ENSG00000144061 97 0 0 61 26 29.8851 TTL 0 genome.wustl.edu 37 2 113243554 113243554 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 113243554 113243554 G A SNP TTL ENST00000233336 human ensembl 74_37 +1 known missense c.218 p.R73H 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTL HGNC ENSG00000114999 138 0 0 105 9 7.89474 POLR1B 0 genome.wustl.edu 37 2 113331267 113331267 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 113331267 113331267 C T SNP POLR1B ENST00000541869 human ensembl 74_37 +1 known silent c.2514 p.D838 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 128 0 0 96 39 28.8889 SLC20A1 0 genome.wustl.edu 37 2 113414818 113414818 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 113414818 113414818 C T SNP SLC20A1 ENST00000272542 human ensembl 74_37 +1 known nonsense c.778 p.R260* 1.000 pfam_Phos_transporter pfam_Phos_transporter - no_errors SLC20A1 HGNC ENSG00000144136 66 0 0 42 13 23.6364 CKAP2L 0 genome.wustl.edu 37 2 113510001 113510001 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 113510001 113510001 G T SNP CKAP2L ENST00000302450 human ensembl 74_37 -1 known missense c.1445 p.P482H 1.000 NULL NULL - no_errors CKAP2L HGNC ENSG00000169607 49 0 0 50 8 13.7931 CKAP2L 0 genome.wustl.edu 37 2 113514730 113514730 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 113514730 113514730 G T SNP CKAP2L ENST00000302450 human ensembl 74_37 -1 known missense c.218 p.S73Y 0.030 NULL NULL - no_errors CKAP2L HGNC ENSG00000169607 237 0 0 202 11 5.16432 CKAP2L 0 genome.wustl.edu 37 2 113520091 113520091 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 113520091 113520091 G A SNP CKAP2L ENST00000302450 human ensembl 74_37 -1 known silent c.93 p.S31 0.191 NULL NULL - no_errors CKAP2L HGNC ENSG00000169607 54 0 0 34 7 17.0732 DPP10 0 genome.wustl.edu 37 2 116572398 116572398 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 116572398 116572398 C T SNP DPP10 ENST00000393147 human ensembl 74_37 +1 known missense c.1742 p.T581I 1.000 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 121 0 0 85 29 25.4386 DDX18 0 genome.wustl.edu 37 2 118577236 118577236 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 118577236 118577236 G A SNP DDX18 ENST00000263239 human ensembl 74_37 +1 known missense c.382 p.A128T 0.997 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX18 HGNC ENSG00000088205 60 0 0 42 14 25 CCDC93 0 genome.wustl.edu 37 2 118732839 118732839 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 118732839 118732839 C T SNP CCDC93 ENST00000376300 human ensembl 74_37 -1 known silent c.675 p.T225 0.000 NULL pfam_DUF2037 - no_errors CCDC93 HGNC ENSG00000125633 151 0 0 104 53 33.758 LPIN1 0 genome.wustl.edu 37 2 11924028 11924028 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 11924028 11924028 G A SNP LPIN1 ENST00000449576 human ensembl 74_37 +1 known silent c.1485 p.A495 0.518 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2 - no_errors LPIN1 HGNC ENSG00000134324 203 0 0 145 46 24.0838 MARCO 0 genome.wustl.edu 37 2 119752090 119752090 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 119752090 119752090 C T SNP MARCO ENST00000327097 human ensembl 74_37 +1 known silent c.1557 p.S519 0.007 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors MARCO HGNC ENSG00000019169 43 0 0 36 9 20 STEAP3 0 genome.wustl.edu 37 2 120005382 120005382 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 120005382 120005382 G A SNP STEAP3 ENST00000393110 human ensembl 74_37 +1 known missense c.650 p.R217H 1.000 NULL pfam_Fe3_Rdtase_TM_dom - no_errors STEAP3 HGNC ENSG00000115107 39 0 0 24 6 20 STEAP3 0 genome.wustl.edu 37 2 120005645 120005645 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 120005645 120005645 C T SNP STEAP3 ENST00000393110 human ensembl 74_37 +1 known silent c.913 p.L305 1.000 pfam_Fe3_Rdtase_TM_dom pfam_Fe3_Rdtase_TM_dom - no_errors STEAP3 HGNC ENSG00000115107 23 0 0 22 7 24.1379 TMEM177 0 genome.wustl.edu 37 2 120438980 120438980 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 120438980 120438980 G A SNP TMEM177 ENST00000272521 human ensembl 74_37 +1 known missense c.551 p.G184D 0.002 NULL NULL - no_errors TMEM177 HGNC ENSG00000144120 32 0 0 18 8 30.7692 TMEM177 0 genome.wustl.edu 37 2 120439194 120439194 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 120439194 120439194 G A SNP TMEM177 ENST00000272521 human ensembl 74_37 +1 known silent c.765 p.S255 0.682 NULL NULL - no_errors TMEM177 HGNC ENSG00000144120 58 0 0 52 6 10.3448 MKI67IP 0 genome.wustl.edu 37 2 122485487 122485487 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 122485487 122485487 C T SNP MKI67IP ENST00000285814 human ensembl 74_37 -1 known missense c.695 p.G232D 0.986 pfam_hNIFK_FHA_Ki67_binding pfam_hNIFK_FHA_Ki67_binding,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MKI67IP HGNC ENSG00000155438 57 0 0 32 20 38.4615 MYO7B 0 genome.wustl.edu 37 2 128339927 128339927 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 128339927 128339927 G A SNP MYO7B ENST00000389524 human ensembl 74_37 +1 known missense c.1249 p.A417T 0.929 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 36 0 0 27 9 25 MYO7B 0 genome.wustl.edu 37 2 128394476 128394476 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 128394476 128394476 C T SNP MYO7B ENST00000389524 human ensembl 74_37 +1 known silent c.6240 p.C2080 0.840 pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 29 0 0 17 6 26.087 GPR17 0 genome.wustl.edu 37 2 128408489 128408489 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 128408489 128408489 C T SNP GPR17 ENST00000272644 human ensembl 74_37 +1 known silent c.264 p.H88 0.997 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_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors GPR17 HGNC ENSG00000144230 66 0 0 73 11 13.0952 WDR33 0 genome.wustl.edu 37 2 128471545 128471545 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 128471545 128471545 G A SNP WDR33 ENST00000322313 human ensembl 74_37 -1 known missense c.2920 p.R974W 1.000 NULL pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 41 0 0 30 17 36.1702 TUBA3E 0 genome.wustl.edu 37 2 130949603 130949603 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 130949603 130949603 G A SNP TUBA3E ENST00000312988 human ensembl 74_37 -1 known missense c.1154 p.A385V 0.998 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin - no_errors TUBA3E HGNC ENSG00000152086 88 0 0 69 8 10.3896 POTEE 0 genome.wustl.edu 37 2 131976329 131976329 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 131976329 131976329 C T SNP POTEE ENST00000356920 human ensembl 74_37 +1 known silent c.354 p.G118 0.002 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 189 0 0 144 34 19.1011 NCKAP5 0 genome.wustl.edu 37 2 133547759 133547759 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 133547759 133547759 T C SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.929 p.K310R 1.000 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 40 0 0 46 3 6.12245 NCKAP5 0 genome.wustl.edu 37 2 133887575 133887575 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 133887575 133887575 G A SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.316 p.R106C 0.963 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 37 0 0 26 12 31.5789 NCKAP5 0 genome.wustl.edu 37 2 134060653 134060653 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 134060653 134060653 C A SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.99 p.E33D 0.998 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 29 0 0 27 9 25 ACMSD 0 genome.wustl.edu 37 2 135630090 135630090 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 135630090 135630090 G A SNP ACMSD ENST00000356140 human ensembl 74_37 +1 known missense c.728 p.R243H 1.000 pfam_Amidohydro_2 pfam_Amidohydro_2 - no_errors ACMSD HGNC ENSG00000153086 66 0 0 39 10 20.4082 R3HDM1 0 genome.wustl.edu 37 2 136473231 136473231 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 136473231 136473231 C T SNP R3HDM1 ENST00000264160 human ensembl 74_37 +1 known missense c.2743 p.P915S 0.688 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM1 HGNC ENSG00000048991 153 0 0 100 27 21.2598 UBXN4 0 genome.wustl.edu 37 2 136513161 136513161 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 136513161 136513161 G A SNP UBXN4 ENST00000272638 human ensembl 74_37 +1 known silent c.408 p.A136 0.985 NULL pfam_UBX,superfamily_Thioredoxin-like_fold,smart_UBX,pfscan_UBX - no_errors UBXN4 HGNC ENSG00000144224 80 0 0 47 25 34.7222 LCT 0 genome.wustl.edu 37 2 136558281 136558281 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 136558281 136558281 C T SNP LCT ENST00000264162 human ensembl 74_37 -1 known missense c.4762 p.A1588T 0.292 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 60 0 0 52 23 30.6667 LCT 0 genome.wustl.edu 37 2 136567187 136567187 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 136567187 136567187 G A SNP LCT ENST00000264162 human ensembl 74_37 -1 known silent c.2730 p.G910 0.000 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 96 0 0 79 8 9.1954 THSD7B 0 genome.wustl.edu 37 2 137928508 137928508 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 137928508 137928508 G A SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.1723 p.G575R 0.995 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 54 0 0 44 9 16.9811 HNMT 0 genome.wustl.edu 37 2 138762705 138762705 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 138762705 138762705 C T SNP HNMT ENST00000280097 human ensembl 74_37 +1 known silent c.433 p.L145 1.000 pfam_Methyltransf_12,pirsf_Histamine_N-methyltransferase pfam_Methyltransf_12,pirsf_Histamine_N-methyltransferase - no_errors HNMT HGNC ENSG00000150540 126 0 0 82 26 24.0741 LRP1B 0 genome.wustl.edu 37 2 141259398 141259398 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 141259398 141259398 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.8708 p.C2903Y 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 38 0 0 36 11 23.4043 LRP1B 0 genome.wustl.edu 37 2 141294197 141294197 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 141294197 141294197 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.7595 p.G2532D 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 111 0 0 69 17 19.7674 GTDC1 0 genome.wustl.edu 37 2 144765058 144765058 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 144765058 144765058 C T SNP GTDC1 ENST00000344850 human ensembl 74_37 -1 known missense c.566 p.G189D 0.537 NULL pfam_GlycosylTrfase_1_N,pfam_Glyco_trans_1 - no_errors GTDC1 HGNC ENSG00000121964 91 0 0 59 14 19.1781 TPO 0 genome.wustl.edu 37 2 1497645 1497645 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 1497645 1497645 G A SNP TPO ENST00000329066 human ensembl 74_37 +1 known missense c.1840 p.A614T 0.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 48 0 0 46 12 20.6897 KIF5C 0 genome.wustl.edu 37 2 149853828 149853828 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 149853828 149853828 C T SNP KIF5C ENST00000435030 human ensembl 74_37 +1 known missense c.2074 p.R692W 0.954 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF5C HGNC ENSG00000168280 68 0 0 48 14 22.5806 RND3 0 genome.wustl.edu 37 2 151326517 151326517 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 151326517 151326517 C A SNP RND3 ENST00000263895 human ensembl 74_37 -1 known missense c.719 p.S240I 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RND3 HGNC ENSG00000115963 85 0 0 68 6 8.10811 NEB 0 genome.wustl.edu 37 2 152536281 152536281 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 152536281 152536281 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.3209 p.A1070V 1.000 pfam_Nebulin_35r-motif,superfamily_Adhesion_dom,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 70 0 0 57 16 21.9178 NEB 0 genome.wustl.edu 37 2 152580820 152580820 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 152580820 152580820 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.566 p.A189V 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 43 0 0 18 5 21.7391 ARL5A 0 genome.wustl.edu 37 2 152663340 152663340 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 152663340 152663340 G A SNP ARL5A ENST00000295087 human ensembl 74_37 -1 known silent c.486 p.G162 0.989 pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL5A HGNC ENSG00000162980 57 0 0 48 5 9.43396 NBAS 0 genome.wustl.edu 37 2 15696925 15696925 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 15696925 15696925 C T SNP NBAS ENST00000281513 human ensembl 74_37 -1 known missense c.191 p.R64H 0.922 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 84 0 0 70 16 18.6047 ACVR1 0 genome.wustl.edu 37 2 158626897 158626897 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 158626897 158626897 C A SNP ACVR1 ENST00000263640 human ensembl 74_37 -1 known missense c.773 p.R258M 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors ACVR1 HGNC ENSG00000115170 171 1 0.581395 178 11 5.82011 PKP4 0 genome.wustl.edu 37 2 159477502 159477502 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 159477502 159477502 A G SNP PKP4 ENST00000389759 human ensembl 74_37 +1 known missense c.281 p.D94G 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP4 HGNC ENSG00000144283 114 0 0 112 8 6.66667 LOC100129029 0 genome.wustl.edu 37 2 159517990 159517990 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 159517990 159517990 C T SNP LOC100129029 ENST00000342892 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC005042.4 Clone_based_vega_gene ENSG00000204380 33 0 0 27 7 20.5882 PKP4 0 genome.wustl.edu 37 2 159526422 159526422 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 159526422 159526422 C T SNP PKP4 ENST00000389759 human ensembl 74_37 +1 known silent c.2919 p.G973 0.992 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP4 HGNC ENSG00000144283 25 0 0 19 10 34.4828 TANC1 0 genome.wustl.edu 37 2 160050772 160050772 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 160050772 160050772 G A SNP TANC1 ENST00000263635 human ensembl 74_37 +1 known missense c.2747 p.S916N 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 72 0 0 58 4 6.45161 BAZ2B 0 genome.wustl.edu 37 2 160304907 160304907 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 160304907 160304907 C T SNP BAZ2B ENST00000392783 human ensembl 74_37 -1 known nonsense c.348 p.W116* 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 100 0 0 118 8 6.34921 MARCH7 0 genome.wustl.edu 37 2 160605008 160605008 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 160605008 160605008 C T SNP MARCH7 ENST00000259050 human ensembl 74_37 +1 known nonsense c.1207 p.R403* 0.669 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH7 HGNC ENSG00000136536 144 1 0.689655 91 27 22.8814 PLA2R1 0 genome.wustl.edu 37 2 160832609 160832609 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 160832609 160832609 C T SNP PLA2R1 ENST00000283243 human ensembl 74_37 -1 known silent c.2565 p.E855 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors PLA2R1 HGNC ENSG00000153246 134 0 0 90 36 28.5714 RBMS1 0 genome.wustl.edu 37 2 161349809 161349809 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 161349809 161349809 C T SNP RBMS1 ENST00000392753 human ensembl 74_37 -1 known silent c.66 p.L22 0.957 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors RBMS1 HGNC ENSG00000153250 52 0 0 17 6 26.087 TANK 0 genome.wustl.edu 37 2 162081195 162081195 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 162081195 162081195 G A SNP TANK ENST00000259075 human ensembl 74_37 +1 known missense c.458 p.C153Y 1.000 NULL NULL - no_errors TANK HGNC ENSG00000136560 90 0 0 74 6 7.5 DPP4 0 genome.wustl.edu 37 2 162891760 162891760 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 162891760 162891760 C T SNP DPP4 ENST00000360534 human ensembl 74_37 -1 known missense c.688 p.D230N 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP4 HGNC ENSG00000197635 100 0 0 91 7 7.14286 GCA 0 genome.wustl.edu 37 2 163204223 163204223 + Missense_Mutation SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 163204223 163204223 T A SNP GCA ENST00000437150 human ensembl 74_37 +1 known missense c.163 p.Y55N 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors GCA HGNC ENSG00000115271 66 0 0 58 4 6.45161 PXDN 0 genome.wustl.edu 37 2 1652167 1652167 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 1652167 1652167 G A SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.3385 p.R1129C 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 32 0 0 21 5 19.2308 GRB14 0 genome.wustl.edu 37 2 165353759 165353759 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 165353759 165353759 C A SNP GRB14 ENST00000263915 human ensembl 74_37 -1 known missense c.1256 p.S419I 1.000 NULL pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB14 HGNC ENSG00000115290 76 0 0 54 15 21.7391 COBLL1 0 genome.wustl.edu 37 2 165548787 165548787 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 165548787 165548787 G A SNP COBLL1 ENST00000194871 human ensembl 74_37 -1 known nonsense c.3559 p.R1187* 1.000 pfscan_WH2_dom pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 55 0 0 40 9 18.3673 COBLL1 0 genome.wustl.edu 37 2 165550894 165550894 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 165550894 165550894 C T SNP COBLL1 ENST00000194871 human ensembl 74_37 -1 known missense c.3323 p.R1108H 0.000 NULL pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 70 0 0 50 15 23.0769 SCN3A 0 genome.wustl.edu 37 2 165946823 165946823 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 165946823 165946823 T C SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.5840 p.D1947G 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 52 0 0 37 15 28.8462 SCN3A 0 genome.wustl.edu 37 2 165997321 165997321 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 165997321 165997321 C T SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.1859 p.R620Q 1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 66 0 0 46 24 34.2857 SCN2A 0 genome.wustl.edu 37 2 166152416 166152416 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 166152416 166152416 G A SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.83 p.R28H 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 63 0 0 36 9 20 SCN2A 0 genome.wustl.edu 37 2 166246006 166246006 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 166246006 166246006 C T SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.5690 p.T1897M 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 80 0 0 58 15 20.5479 CSRNP3 0 genome.wustl.edu 37 2 166514297 166514297 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 166514297 166514297 C T SNP CSRNP3 ENST00000314499 human ensembl 74_37 +1 known nonsense c.175 p.R59* 1.000 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP3 HGNC ENSG00000178662 70 0 0 58 5 7.93651 TTC21B 0 genome.wustl.edu 37 2 166797676 166797676 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 166797676 166797676 G A SNP TTC21B ENST00000243344 human ensembl 74_37 -1 known missense c.571 p.R191C 0.980 smart_TPR_repeat smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21B HGNC ENSG00000123607 75 0 0 48 18 27.2727 SCN1A 0 genome.wustl.edu 37 2 166900484 166900484 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 166900484 166900484 G A SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known nonsense c.1738 p.R580* 1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 106 0 0 74 21 22.1053 SCN9A 0 genome.wustl.edu 37 2 167133677 167133677 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 167133677 167133677 C T SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.2693 p.C898Y 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 231 0 0 142 54 27.551 SCN9A 0 genome.wustl.edu 37 2 167133746 167133746 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 167133746 167133746 G A SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.2624 p.A875V 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 215 0 0 175 16 8.37696 SCN7A 0 genome.wustl.edu 37 2 167298020 167298020 + Silent SNP C C G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 167298020 167298020 C G SNP SCN7A ENST00000409855 human ensembl 74_37 -1 known silent c.2043 p.V681 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 106 0 0 76 28 26.9231 XIRP2 0 genome.wustl.edu 37 2 168099163 168099163 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 168099163 168099163 A G SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.1261 p.K421E 0.922 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 120 0 0 112 6 5.08475 XIRP2 0 genome.wustl.edu 37 2 168107993 168107993 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 168107993 168107993 T C SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.10091 p.I3364T 0.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 174 0 0 100 35 25.9259 CERS6 0 genome.wustl.edu 37 2 169404125 169404125 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 169404125 169404125 G A SNP CERS6 ENST00000392687 human ensembl 74_37 +1 known missense c.190 p.A64T 1.000 pirsf_Longevity_assurance_LAG1_LAC1 pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS6 HGNC ENSG00000172292 39 0 0 27 13 32.5 LRP2 0 genome.wustl.edu 37 2 170026232 170026232 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 170026232 170026232 G A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.11477 p.A3826V 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,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 112 0 0 96 25 20.6612 LRP2 0 genome.wustl.edu 37 2 170032999 170032999 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 170032999 170032999 C T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.10493 p.R3498H 0.718 superfamily_Growth_fac_rcpt_N_dom,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 53 0 0 44 14 24.1379 LRP2 0 genome.wustl.edu 37 2 170037982 170037982 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 170037982 170037982 G A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.10145 p.A3382V 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,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 83 0 0 81 27 25 LRP2 0 genome.wustl.edu 37 2 170048452 170048452 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 170048452 170048452 G A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known silent c.8922 p.G2974 0.009 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 111 0 0 60 21 25.9259 LRP2 0 genome.wustl.edu 37 2 170058336 170058336 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 170058336 170058336 G A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known nonsense c.8254 p.R2752* 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 95 0 0 78 13 14.2857 LRP2 0 genome.wustl.edu 37 2 170129448 170129448 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 170129448 170129448 C T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.2105 p.R702H 0.000 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 395 0 0 248 104 29.5455 BBS5 0 genome.wustl.edu 37 2 170344508 170344508 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 170344508 170344508 C T SNP BBS5 ENST00000443151 human ensembl 74_37 +1 known missense c.154 p.P52S 0.997 NULL pfam_BBL5 - no_errors BBS5 HGNC ENSG00000163093 137 0 0 94 38 28.7879 MYO3B 0 genome.wustl.edu 37 2 171264268 171264268 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 171264268 171264268 C A SNP MYO3B ENST00000334231 human ensembl 74_37 +1 known missense c.2591 p.T864N 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC ENSG00000071909 136 0 0 115 41 26.2821 SP5 0 genome.wustl.edu 37 2 171573002 171573002 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 171573002 171573002 G A SNP SP5 ENST00000375281 human ensembl 74_37 +1 known silent c.285 p.T95 0.900 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP5 HGNC ENSG00000204335 11 0 0 5 4 44.4444 SLC25A12 0 genome.wustl.edu 37 2 172641950 172641950 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 172641950 172641950 C T SNP SLC25A12 ENST00000422440 human ensembl 74_37 -1 known missense c.1871 p.R624H 0.999 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A12 HGNC ENSG00000115840 79 0 0 80 24 23.0769 DLX2 0 genome.wustl.edu 37 2 172966308 172966308 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 172966308 172966308 C T SNP DLX2 ENST00000234198 human ensembl 74_37 -1 known missense c.467 p.R156H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_Distal-less_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX2 HGNC ENSG00000115844 67 0 0 48 17 26.1538 PDK1 0 genome.wustl.edu 37 2 173429383 173429383 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 173429383 173429383 G A SNP PDK1 ENST00000282077 human ensembl 74_37 +1 known missense c.563 p.R188H 1.000 pfam_BCDHK/PDK_N,superfamily_BCDHK/PDK_N pfam_BCDHK/PDK_N,pfam_HATPase_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core - no_errors PDK1 HGNC ENSG00000152256 91 0 0 67 17 20.2381 SP3 0 genome.wustl.edu 37 2 174774752 174774752 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 174774752 174774752 C T SNP SP3 ENST00000310015 human ensembl 74_37 -1 known missense c.2263 p.A755T 0.997 NULL pfam_Znf_C2H2,superfamily_Galactose-bd-like,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP3 HGNC ENSG00000172845 82 0 0 91 7 7.14286 KIAA1715 0 genome.wustl.edu 37 2 176794704 176794704 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 176794704 176794704 C T SNP KIAA1715 ENST00000544803 human ensembl 74_37 -1 known silent c.1371 p.T457 0.920 NULL pfam_DUF2296 - no_errors KIAA1715 HGNC ENSG00000144320 102 0 0 73 14 16.092 HOXD13 0 genome.wustl.edu 37 2 176958345 176958345 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 176958345 176958345 T C SNP HOXD13 ENST00000392539 human ensembl 74_37 +1 putative missense c.727 p.Y243H 1.000 NULL pfam_Homeobox_dom,pfam_HoxA13_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOXD13 HGNC ENSG00000128714 33 0 0 25 5 16.6667 HOXD10 0 genome.wustl.edu 37 2 176982113 176982113 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 176982113 176982113 C T SNP HOXD10 ENST00000249501 human ensembl 74_37 +1 known silent c.552 p.G184 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXD10 HGNC ENSG00000128710 61 0 0 33 13 28.2609 HOXD3 0 genome.wustl.edu 37 2 177036882 177036882 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 177036882 177036882 G A SNP HOXD3 ENST00000249440 human ensembl 74_37 +1 known silent c.1179 p.A393 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD3 HGNC ENSG00000128652 35 0 0 18 7 28 PDE11A 0 genome.wustl.edu 37 2 178879125 178879125 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 178879125 178879125 G A SNP PDE11A ENST00000286063 human ensembl 74_37 -1 known silent c.975 p.C325 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE11A HGNC ENSG00000128655 79 0 0 58 21 26.5823 PDE11A 0 genome.wustl.edu 37 2 178936644 178936644 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 178936644 178936644 G A SNP PDE11A ENST00000286063 human ensembl 74_37 -1 known missense c.521 p.A174V 1.000 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE11A HGNC ENSG00000128655 110 0 0 58 22 27.5 OSBPL6 0 genome.wustl.edu 37 2 179214085 179214085 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 179214085 179214085 G A SNP OSBPL6 ENST00000315022 human ensembl 74_37 +1 known silent c.1134 p.L378 0.995 NULL pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 147 0 0 112 32 22.2222 PRKRA 0 genome.wustl.edu 37 2 179312289 179312289 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 179312289 179312289 G A SNP PRKRA ENST00000325748 human ensembl 74_37 -1 known missense c.260 p.A87V 1.000 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors PRKRA HGNC ENSG00000180228 86 0 0 79 5 5.95238 DFNB59 0 genome.wustl.edu 37 2 179325727 179325727 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 179325727 179325727 T C SNP DFNB59 ENST00000375129 human ensembl 74_37 +1 known missense c.785 p.V262A 1.000 NULL pfam_Gasdermin - no_errors DFNB59 HGNC ENSG00000204311 141 0 0 167 12 6.70391 TTN 0 genome.wustl.edu 37 2 179393094 179393094 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 179393094 179393094 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known nonsense c.99580 p.R33194* 0.998 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 71 0 0 47 33 41.25 TTN 0 genome.wustl.edu 37 2 179404438 179404438 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 179404438 179404438 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.90650 p.A30217V 0.997 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,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 173 0 0 129 12 8.51064 TTN 0 genome.wustl.edu 37 2 179412259 179412259 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 179412259 179412259 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.86390 p.R28797H 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 45 0 0 37 21 36.2069 TTN 0 genome.wustl.edu 37 2 179417232 179417232 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 179417232 179417232 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.82691 p.D27564G 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 65 0 0 55 17 23.6111 TTN 0 genome.wustl.edu 37 2 179417976 179417976 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 179417976 179417976 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.81947 p.A27316V 0.998 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 200 0 0 132 58 30.5263 TTN 0 genome.wustl.edu 37 2 179422671 179422671 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 179422671 179422671 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.79706 p.R26569M 1.000 superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 256 0 0 201 69 25.5556 TTN 0 genome.wustl.edu 37 2 179444834 179444834 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 179444834 179444834 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.59476 p.R19826C 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 139 0 0 105 32 23.3577 TTN 0 genome.wustl.edu 37 2 179498195 179498195 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 179498195 179498195 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.35187 p.G11729 0.995 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 60 0 0 47 14 22.9508 TTN 0 genome.wustl.edu 37 2 179530112 179530112 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 179530112 179530112 C T SNP TTN ENST00000589042 human ensembl 74_37 -1 putative missense c.36035 p.R12012H 0.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 175 0 0 145 13 8.22785 TTN 0 genome.wustl.edu 37 2 179549074 179549074 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 179549074 179549074 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.28973 p.A9658V 1.000 pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 51 0 0 24 8 25 TTN 0 genome.wustl.edu 37 2 179582535 179582535 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 179582535 179582535 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.21334 p.R7112C 1.000 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 57 0 0 49 17 25.7576 TTN 0 genome.wustl.edu 37 2 179597674 179597674 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 179597674 179597674 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.12497 p.G4166D 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 35 0 0 26 14 35 TTN 0 genome.wustl.edu 37 2 179604723 179604723 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 179604723 179604723 C A SNP TTN ENST00000342175 human ensembl 74_37 -1 known missense c.12724 p.G4242C 0.121 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 101 0 0 72 22 23.4043 TTN 0 genome.wustl.edu 37 2 179633400 179633400 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 179633400 179633400 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.9163 p.A3055S 1.000 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 64 0 0 48 5 9.43396 TTN 0 genome.wustl.edu 37 2 179640598 179640598 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 179640598 179640598 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.5993 p.R1998H 1.000 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 123 0 0 101 49 32.6667 TTN 0 genome.wustl.edu 37 2 179648867 179648867 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 179648867 179648867 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.2705 p.V902A 0.246 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 96 0 0 89 5 5.31915 TTN 0 genome.wustl.edu 37 2 179648990 179648990 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 179648990 179648990 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.2582 p.A861V 1.000 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 80 0 0 51 21 29.1667 TTN 0 genome.wustl.edu 37 2 179665162 179665162 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 179665162 179665162 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.543 p.S181 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 216 0 0 169 12 6.62983 TTN 0 genome.wustl.edu 37 2 179666955 179666955 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 179666955 179666955 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.205 p.A69T 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 134 0 0 67 34 33.6634 CCDC141 0 genome.wustl.edu 37 2 179732869 179732869 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 179732869 179732869 C T SNP CCDC141 ENST00000420890 human ensembl 74_37 -1 known missense c.2458 p.A820T 0.001 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CCDC141 HGNC ENSG00000163492 78 0 0 52 16 23.5294 SESTD1 0 genome.wustl.edu 37 2 179974726 179974726 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 179974726 179974726 T C SNP SESTD1 ENST00000428443 human ensembl 74_37 -1 known missense c.1991 p.D664G 1.000 NULL superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors SESTD1 HGNC ENSG00000187231 68 0 0 52 11 17.4603 SESTD1 0 genome.wustl.edu 37 2 180047900 180047900 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 180047900 180047900 C T SNP SESTD1 ENST00000428443 human ensembl 74_37 -1 known missense c.71 p.R24Q 1.000 superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors SESTD1 HGNC ENSG00000187231 50 0 0 47 17 26.5625 CWC22 0 genome.wustl.edu 37 2 180851449 180851449 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 180851449 180851449 C T SNP CWC22 ENST00000295749 human ensembl 74_37 -1 known missense c.179 p.R60H 0.881 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors CWC22 HGNC ENSG00000163510 39 0 0 25 11 30.5556 NEUROD1 0 genome.wustl.edu 37 2 182542954 182542954 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 182542954 182542954 C T SNP NEUROD1 ENST00000295108 human ensembl 74_37 -1 known missense c.634 p.A212T 1.000 pfam_Neurogenic_DUF,pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD1 HGNC ENSG00000162992 62 0 0 32 16 33.3333 SSFA2 0 genome.wustl.edu 37 2 182786932 182786932 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 182786932 182786932 G A SNP SSFA2 ENST00000431877 human ensembl 74_37 +1 known silent c.3468 p.T1156 0.550 NULL NULL - no_errors SSFA2 HGNC ENSG00000138434 190 0 0 181 14 7.17949 FRZB 0 genome.wustl.edu 37 2 183730941 183730941 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 183730941 183730941 G A SNP FRZB ENST00000295113 human ensembl 74_37 -1 known missense c.340 p.R114W 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors FRZB HGNC ENSG00000162998 22 0 0 24 9 27.2727 MYT1L 0 genome.wustl.edu 37 2 1855433 1855433 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 1855433 1855433 G A SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known silent c.2754 p.G918 1.000 pfam_Znf_C2HC pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 152 0 0 97 28 22.4 ZNF804A 0 genome.wustl.edu 37 2 185800759 185800759 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 185800759 185800759 C T SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known silent c.636 p.I212 0.978 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 96 0 0 77 6 7.22892 NT5C1B 0 genome.wustl.edu 37 2 18764161 18764161 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 18764161 18764161 G A SNP NT5C1B ENST00000359846 human ensembl 74_37 -1 known missense c.1174 p.R392W 1.000 pfam_5-nucleotidase pfam_5-nucleotidase - no_errors NT5C1B HGNC ENSG00000185013 74 0 0 48 16 25 NT5C1B 0 genome.wustl.edu 37 2 18768433 18768433 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 18768433 18768433 G A SNP NT5C1B ENST00000359846 human ensembl 74_37 -1 known missense c.127 p.R43C 1.000 NULL pfam_5-nucleotidase - no_errors NT5C1B HGNC ENSG00000185013 30 0 0 25 3 10.7143 CALCRL 0 genome.wustl.edu 37 2 188247920 188247920 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 188247920 188247920 T C SNP CALCRL ENST00000392370 human ensembl 74_37 -1 known missense c.164 p.D55G 1.000 pfscan_GPCR_2_extracellular_dom,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_CGRP1_rcpt,prints_GPCR_2_calcitonin_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_CGRP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt - no_errors CALCRL HGNC ENSG00000064989 91 0 0 84 5 5.61798 SLC40A1 0 genome.wustl.edu 37 2 190445148 190445148 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 190445148 190445148 G A SNP SLC40A1 ENST00000261024 human ensembl 74_37 -1 known silent c.39 p.C13 1.000 superfamily_MFS_dom_general_subst_transpt pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt - no_errors SLC40A1 HGNC ENSG00000138449 81 0 0 61 17 21.7949 ANKAR 0 genome.wustl.edu 37 2 190593148 190593148 + Splice_Site SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 190593148 190593148 T A SNP ANKAR ENST00000313581 human ensembl 74_37 +1 known splice_site c.3031+2 e13+2 1.000 - - - no_errors ANKAR HGNC ENSG00000151687 45 0 0 38 4 9.52381 PMS1 0 genome.wustl.edu 37 2 190660570 190660570 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 190660570 190660570 G A SNP PMS1 ENST00000441310 human ensembl 74_37 +1 known missense c.208 p.A70T 1.000 pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,tigrfam_DNA_mismatch_repair_N pfam_DNA_mismatch_repair_C,pfam_HMG_box_dom,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom,tigrfam_DNA_mismatch_repair_N - no_errors PMS1 HGNC ENSG00000064933 71 0 0 93 9 8.82353 MFSD6 0 genome.wustl.edu 37 2 191301738 191301738 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 191301738 191301738 G A SNP MFSD6 ENST00000281416 human ensembl 74_37 +1 known missense c.983 p.R328H 1.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6 HGNC ENSG00000151690 85 0 0 85 6 6.59341 OSR1 0 genome.wustl.edu 37 2 19552979 19552979 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 19552979 19552979 C T SNP OSR1 ENST00000272223 human ensembl 74_37 -1 known silent c.588 p.T196 0.439 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OSR1 HGNC ENSG00000143867 93 0 0 38 19 33.3333 DNAH7 0 genome.wustl.edu 37 2 196673563 196673563 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 196673563 196673563 C T SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.9926 p.G3309D 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 46 0 0 55 6 9.83607 DNAH7 0 genome.wustl.edu 37 2 196718175 196718175 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 196718175 196718175 G A SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known silent c.8673 p.S2891 0.653 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 64 0 0 65 4 5.7971 DNAH7 0 genome.wustl.edu 37 2 196771409 196771409 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 196771409 196771409 G A SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known nonsense c.4309 p.R1437* 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase 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 95 0 0 79 14 15.0538 CCDC150 0 genome.wustl.edu 37 2 197521851 197521851 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 197521851 197521851 G A SNP CCDC150 ENST00000389175 human ensembl 74_37 +1 known silent c.567 p.S189 0.935 NULL NULL - no_errors CCDC150 HGNC ENSG00000144395 115 0 0 83 9 9.78261 PGAP1 0 genome.wustl.edu 37 2 197763060 197763060 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 197763060 197763060 C A SNP PGAP1 ENST00000354764 human ensembl 74_37 -1 known missense c.841 p.D281Y 1.000 pfam_PGAP1-like pfam_PGAP1-like - no_errors PGAP1 HGNC ENSG00000197121 64 0 0 50 21 29.5775 ANKRD44 0 genome.wustl.edu 37 2 197987425 197987425 + Silent SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 197987425 197987425 G T SNP ANKRD44 ENST00000328737 human ensembl 74_37 -1 known silent c.567 p.A189 1.000 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 ANKRD44 HGNC ENSG00000065413 56 0 0 55 8 12.6984 PLCL1 0 genome.wustl.edu 37 2 198950276 198950276 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 198950276 198950276 G A SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known missense c.2035 p.D679N 1.000 pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 92 0 0 70 23 24.7312 SATB2 0 genome.wustl.edu 37 2 200298074 200298074 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 200298074 200298074 C T SNP SATB2 ENST00000260926 human ensembl 74_37 -1 known silent c.333 p.A111 0.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB2 HGNC ENSG00000119042 60 0 0 55 19 25.6757 WDR35 0 genome.wustl.edu 37 2 20113444 20113444 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 20113444 20113444 C T SNP WDR35 ENST00000345530 human ensembl 74_37 -1 known missense c.3421 p.V1141I 0.980 pirsf_WD_repeat_p35 pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR35 HGNC ENSG00000118965 90 0 0 100 8 7.40741 WDR35 0 genome.wustl.edu 37 2 20136078 20136078 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 20136078 20136078 T C SNP WDR35 ENST00000345530 human ensembl 74_37 -1 known silent c.2349 p.V783 0.965 pirsf_WD_repeat_p35 pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR35 HGNC ENSG00000118965 103 0 0 66 5 7.04225 KCTD18 0 genome.wustl.edu 37 2 201369584 201369584 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 201369584 201369584 C T SNP KCTD18 ENST00000359878 human ensembl 74_37 -1 known missense c.259 p.A87T 0.998 pfam_T1-type_BTB,superfamily_BTB/POZ_fold pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD18 HGNC ENSG00000155729 75 0 0 68 6 8.10811 SGOL2 0 genome.wustl.edu 37 2 201437568 201437568 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 201437568 201437568 A G SNP SGOL2 ENST00000357799 human ensembl 74_37 +1 known silent c.2499 p.V833 0.000 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 115 0 0 140 12 7.89474 CLK1 0 genome.wustl.edu 37 2 201721521 201721521 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 201721521 201721521 C T SNP CLK1 ENST00000321356 human ensembl 74_37 -1 known missense c.941 p.R314H 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CLK1 HGNC ENSG00000013441 111 0 0 50 30 37.5 FAM117B 0 genome.wustl.edu 37 2 203622048 203622048 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 203622048 203622048 A G SNP FAM117B ENST00000392238 human ensembl 74_37 +1 known missense c.1217 p.N406S 1.000 NULL NULL - no_errors FAM117B HGNC ENSG00000138439 65 0 0 52 4 7.14286 RAPH1 0 genome.wustl.edu 37 2 204354353 204354353 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 204354353 204354353 C T SNP RAPH1 ENST00000374493 human ensembl 74_37 -1 known missense c.686 p.R229H 0.997 NULL pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin - no_errors RAPH1 HGNC ENSG00000173166 160 0 0 93 23 19.8276 PARD3B 0 genome.wustl.edu 37 2 205986630 205986630 + Silent SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 205986630 205986630 C A SNP PARD3B ENST00000406610 human ensembl 74_37 +1 known silent c.1122 p.G374 0.999 superfamily_PDZ pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 70 0 0 57 15 20.8333 NRP2 0 genome.wustl.edu 37 2 206608199 206608199 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 206608199 206608199 C T SNP NRP2 ENST00000360409 human ensembl 74_37 +1 known missense c.1564 p.R522C 1.000 pirsf_Neuropilin,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 pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP2 HGNC ENSG00000118257 64 0 0 48 14 22.5806 EEF1B2 0 genome.wustl.edu 37 2 207026140 207026140 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 207026140 207026140 G A SNP EEF1B2 ENST00000236957 human ensembl 74_37 +1 known missense c.274 p.A92T 1.000 NULL pfam_Transl_elong_fac_EF1B_bsu/dsu,pfam_EF-1_beta_acid_region_euk,superfamily_Transl_elong_fac_EF1B_bsu/dsu,superfamily_Glutathione-S-Trfase_C-like,smart_Transl_elong_fac_EF1B_bsu/dsu - no_errors EEF1B2 HGNC ENSG00000114942 164 0 0 97 40 29.1971 ZDBF2 0 genome.wustl.edu 37 2 207170556 207170556 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 207170556 207170556 G A SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known missense c.1304 p.R435H 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 96 0 0 80 18 18.3673 ZDBF2 0 genome.wustl.edu 37 2 207175899 207175899 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 207175899 207175899 G A SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known missense c.6647 p.R2216Q 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 68 0 0 57 6 9.52381 ADAM23 0 genome.wustl.edu 37 2 207406814 207406814 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 207406814 207406814 C T SNP ADAM23 ENST00000264377 human ensembl 74_37 +1 known silent c.612 p.G204 0.063 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM23 HGNC ENSG00000114948 124 0 0 99 13 11.6071 MDH1B 0 genome.wustl.edu 37 2 207619807 207619807 + Missense_Mutation SNP A A T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 207619807 207619807 A T SNP MDH1B ENST00000374412 human ensembl 74_37 -1 known missense c.836 p.I279N 0.275 NULL pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C - no_errors MDH1B HGNC ENSG00000138400 90 0 0 91 6 6.18557 PLEKHM3 0 genome.wustl.edu 37 2 208795695 208795695 + Missense_Mutation SNP T T G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 208795695 208795695 T G SNP PLEKHM3 ENST00000427836 human ensembl 74_37 -1 known missense c.1841 p.Y614S 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHM3 HGNC ENSG00000178385 56 0 0 52 5 8.77193 CRYGA 0 genome.wustl.edu 37 2 209025726 209025726 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 209025726 209025726 G A SNP CRYGA ENST00000304502 human ensembl 74_37 -1 known silent c.327 p.C109 0.986 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,prints_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGA HGNC ENSG00000168582 91 0 0 49 19 27.9412 UNC80 0 genome.wustl.edu 37 2 210782542 210782542 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 210782542 210782542 G A SNP UNC80 ENST00000439458 human ensembl 74_37 +1 known missense c.4873 p.V1625M 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 11 0 0 7 6 46.1538 LANCL1 0 genome.wustl.edu 37 2 211302452 211302452 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 211302452 211302452 C T SNP LANCL1 ENST00000233714 human ensembl 74_37 -1 known missense c.835 p.A279T 0.853 pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LANC-like pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like - no_errors LANCL1 HGNC ENSG00000115365 69 0 0 41 24 36.9231 CPS1 0 genome.wustl.edu 37 2 211507258 211507258 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 211507258 211507258 C T SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known missense c.3028 p.R1010C 1.000 pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 87 0 0 84 6 6.66667 ERBB4 0 genome.wustl.edu 37 2 212522697 212522697 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 212522697 212522697 C T SNP ERBB4 ENST00000402597 human ensembl 74_37 -1 known missense c.1894 p.D632N 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 95 0 0 76 10 11.6279 FN1 0 genome.wustl.edu 37 2 216269111 216269111 + Splice_Site SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 216269111 216269111 C T SNP FN1 ENST00000354785 human ensembl 74_37 -1 known splice_site c.3253+1 e20+1 1.000 - - - no_errors FN1 HGNC ENSG00000115414 103 0 0 78 21 21.2121 FN1 0 genome.wustl.edu 37 2 216298122 216298122 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 216298122 216298122 G A SNP FN1 ENST00000354785 human ensembl 74_37 -1 known missense c.340 p.R114C 1.000 pfam_Fibronectin_type1,smart_Fibronectin_type1,pfscan_Fibronectin_type1 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 90 0 0 64 20 23.8095 TNS1 0 genome.wustl.edu 37 2 218682847 218682847 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 218682847 218682847 C T SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.3896 p.S1299N 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 26 0 0 12 5 29.4118 TNS1 0 genome.wustl.edu 37 2 218751283 218751283 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 218751283 218751283 C T SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.578 p.G193D 1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom 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 18 0 0 9 3 25 ARPC2 0 genome.wustl.edu 37 2 219104245 219104245 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 219104245 219104245 C T SNP ARPC2 ENST00000462034 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors ARPC2 HGNC ENSG00000163466 39 0 0 21 12 36.3636 ZNF142 0 genome.wustl.edu 37 2 219503385 219503385 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 219503385 219503385 G A SNP ZNF142 ENST00000411696 human ensembl 74_37 -1 known missense c.4741 p.R1581C 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 42 0 0 28 6 17.6471 RNF25 0 genome.wustl.edu 37 2 219528910 219528910 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 219528910 219528910 C T SNP RNF25 ENST00000295704 human ensembl 74_37 -1 known missense c.1150 p.D384N 1.000 NULL pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_RING,pfscan_RWD-domain,pfscan_Znf_RING - no_errors RNF25 HGNC ENSG00000163481 99 0 0 87 24 21.6216 CCDC108 0 genome.wustl.edu 37 2 219892449 219892449 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 219892449 219892449 C T SNP CCDC108 ENST00000341552 human ensembl 74_37 -1 known missense c.2134 p.A712T 0.991 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 101 0 0 41 24 36.9231 CCDC108 0 genome.wustl.edu 37 2 219893010 219893010 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 219893010 219893010 C T SNP CCDC108 ENST00000341552 human ensembl 74_37 -1 known silent c.1764 p.T588 0.001 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 44 0 0 44 6 12 CCDC108 0 genome.wustl.edu 37 2 219895460 219895460 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 219895460 219895460 G A SNP CCDC108 ENST00000341552 human ensembl 74_37 -1 known missense c.1112 p.A371V 0.847 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 59 0 0 26 10 27.7778 IHH 0 genome.wustl.edu 37 2 219920499 219920499 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 219920499 219920499 G A SNP IHH ENST00000295731 human ensembl 74_37 -1 known silent c.666 p.A222 0.005 pirsf_Hedgehog,pfam_Hint_dom,smart_Hint_dom_N,pfscan_Intein_splice_site pirsf_Hedgehog,pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,prints_Hedgehog,pfscan_Intein_splice_site - no_errors IHH HGNC ENSG00000163501 27 0 0 15 4 21.0526 DNAJB2 0 genome.wustl.edu 37 2 220145307 220145307 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 220145307 220145307 C T SNP DNAJB2 ENST00000336576 human ensembl 74_37 +1 known missense c.73 p.R25C 0.003 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB2 HGNC ENSG00000135924 43 0 0 26 6 18.75 OBSL1 0 genome.wustl.edu 37 2 220432875 220432875 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 220432875 220432875 C T SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.1184 p.R395Q 0.985 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 28 0 0 20 10 33.3333 EPHA4 0 genome.wustl.edu 37 2 222301233 222301233 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 222301233 222301233 A G SNP EPHA4 ENST00000281821 human ensembl 74_37 -1 known silent c.2232 p.H744 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,prints_Ser-Thr/Tyr_kinase_cat_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA4 HGNC ENSG00000116106 116 0 0 111 10 8.26446 CCDC140 0 genome.wustl.edu 37 2 223168902 223168902 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 223168902 223168902 C T SNP CCDC140 ENST00000295226 human ensembl 74_37 +1 known missense c.281 p.A94V 0.000 NULL NULL - no_errors CCDC140 HGNC ENSG00000163081 15 0 0 11 4 26.6667 SCG2 0 genome.wustl.edu 37 2 224463687 224463687 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 224463687 224463687 A G SNP SCG2 ENST00000305409 human ensembl 74_37 -1 known missense c.314 p.L105P 0.986 pfam_Granin pfam_Granin - no_errors SCG2 HGNC ENSG00000171951 106 0 0 100 43 30.0699 WDFY1 0 genome.wustl.edu 37 2 224758990 224758990 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 224758990 224758990 G A SNP WDFY1 ENST00000233055 human ensembl 74_37 -1 known silent c.792 p.G264 0.232 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDFY1 HGNC ENSG00000085449 69 0 0 32 14 30.4348 NYAP2 0 genome.wustl.edu 37 2 226447052 226447052 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 226447052 226447052 G A SNP NYAP2 ENST00000272907 human ensembl 74_37 +1 known missense c.919 p.A307T 1.000 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 75 0 0 32 14 30.4348 IRS1 0 genome.wustl.edu 37 2 227660941 227660941 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 227660941 227660941 C T SNP IRS1 ENST00000305123 human ensembl 74_37 -1 known silent c.2514 p.Q838 0.973 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 45 0 0 32 9 21.9512 IRS1 0 genome.wustl.edu 37 2 227662528 227662528 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 227662528 227662528 G A SNP IRS1 ENST00000305123 human ensembl 74_37 -1 known silent c.927 p.T309 0.000 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 46 0 0 35 12 25.5319 SLC19A3 0 genome.wustl.edu 37 2 228564079 228564079 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 228564079 228564079 C T SNP SLC19A3 ENST00000258403 human ensembl 74_37 -1 known missense c.352 p.A118T 0.996 pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A3 HGNC ENSG00000135917 123 0 0 75 18 19.3548 SPHKAP 0 genome.wustl.edu 37 2 228882781 228882781 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 228882781 228882781 G A SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known missense c.2789 p.A930V 1.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 168 0 0 153 14 8.38323 SPHKAP 0 genome.wustl.edu 37 2 228883827 228883827 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 228883827 228883827 G A SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known silent c.1743 p.C581 0.010 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 71 0 0 40 13 24.5283 DNER 0 genome.wustl.edu 37 2 230223321 230223321 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 230223321 230223321 C T SNP DNER ENST00000341772 human ensembl 74_37 -1 known missense c.2149 p.A717T 0.990 NULL pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DNER HGNC ENSG00000187957 79 0 0 81 5 5.81395 TRIP12 0 genome.wustl.edu 37 2 230643195 230643195 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 230643195 230643195 C T SNP TRIP12 ENST00000283943 human ensembl 74_37 -1 known missense c.5093 p.R1698H 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 138 0 0 128 34 20.9877 TRIP12 0 genome.wustl.edu 37 2 230672494 230672494 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 230672494 230672494 G A SNP TRIP12 ENST00000283943 human ensembl 74_37 -1 known missense c.2282 p.A761V 1.000 superfamily_ARM-type_fold,pfscan_WWE-dom pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 49 0 0 45 8 15.0943 SLC16A14 0 genome.wustl.edu 37 2 230910799 230910799 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 230910799 230910799 T C SNP SLC16A14 ENST00000295190 human ensembl 74_37 -1 known missense c.1043 p.E348G 0.658 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A14 HGNC ENSG00000163053 68 0 0 43 19 30.6452 SP110 0 genome.wustl.edu 37 2 231033861 231033861 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 231033861 231033861 G A SNP SP110 ENST00000258381 human ensembl 74_37 -1 known silent c.2121 p.G707 0.000 NULL 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 308 0 0 245 77 23.913 SP110 0 genome.wustl.edu 37 2 231037655 231037655 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 231037655 231037655 G A SNP SP110 ENST00000258381 human ensembl 74_37 -1 known silent c.1611 p.C537 0.866 superfamily_SAND_dom-like,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger 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 68 0 0 38 22 36.6667 SP140L 0 genome.wustl.edu 37 2 231264898 231264898 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 231264898 231264898 C T SNP SP140L ENST00000415673 human ensembl 74_37 +1 known silent c.1254 p.C418 0.222 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,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,pfscan_Bromodomain - no_errors SP140L HGNC ENSG00000185404 76 0 0 56 6 9.67742 ITM2C 0 genome.wustl.edu 37 2 231740379 231740379 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 231740379 231740379 C T SNP ITM2C ENST00000326427 human ensembl 74_37 +1 known silent c.306 p.D102 1.000 NULL pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors ITM2C HGNC ENSG00000135916 145 0 0 93 25 21.1864 B3GNT7 0 genome.wustl.edu 37 2 232263297 232263297 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 232263297 232263297 C T SNP B3GNT7 ENST00000287590 human ensembl 74_37 +1 known silent c.867 p.Y289 0.999 pfam_Glyco_trans_31,pfam_Fringe-like pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT7 HGNC ENSG00000156966 14 0 0 6 4 40 NCL 0 genome.wustl.edu 37 2 232324987 232324987 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 232324987 232324987 C T SNP NCL ENST00000322723 human ensembl 74_37 -1 known missense c.916 p.A306T 0.106 NULL pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors NCL HGNC ENSG00000115053 121 0 0 104 30 22.3881 NCL 0 genome.wustl.edu 37 2 232325210 232325210 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 232325210 232325210 C T SNP NCL ENST00000322723 human ensembl 74_37 -1 known missense c.877 p.A293T 1.000 NULL pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors NCL HGNC ENSG00000115053 142 0 0 157 10 5.98802 NCL 0 genome.wustl.edu 37 2 232327993 232327993 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 232327993 232327993 G T SNP NCL ENST00000322723 human ensembl 74_37 -1 known missense c.53 p.A18D 1.000 NULL pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors NCL HGNC ENSG00000115053 146 1 0.680272 140 9 6.04027 NMUR1 0 genome.wustl.edu 37 2 232393472 232393472 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 232393472 232393472 C T SNP NMUR1 ENST00000305141 human ensembl 74_37 -1 known missense c.260 p.R87H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NeuromedU_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NeuromedU_rcpt_1,prints_NeuromedU_rcpt,prints_GPCR_Rhodpsn - no_errors NMUR1 HGNC ENSG00000171596 59 0 0 42 10 19.2308 DIS3L2 0 genome.wustl.edu 37 2 233128133 233128133 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 233128133 233128133 G A SNP DIS3L2 ENST00000325385 human ensembl 74_37 +1 known missense c.1642 p.A548T 0.997 NULL NULL - no_errors DIS3L2 HGNC ENSG00000144535 65 0 0 27 10 27.027 ALPP 0 genome.wustl.edu 37 2 233245418 233245418 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 233245418 233245418 C T SNP ALPP ENST00000392027 human ensembl 74_37 +1 known silent c.951 p.A317 0.891 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPP HGNC ENSG00000163283 64 0 0 55 11 16.6667 ALPPL2 0 genome.wustl.edu 37 2 233272672 233272672 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 233272672 233272672 G A SNP ALPPL2 ENST00000295453 human ensembl 74_37 +1 known missense c.593 p.R198H 0.000 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPPL2 HGNC ENSG00000163286 63 0 0 43 8 15.6863 ALPPL2 0 genome.wustl.edu 37 2 233274433 233274433 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 233274433 233274433 G A SNP ALPPL2 ENST00000295453 human ensembl 74_37 +1 known missense c.1450 p.A484T 0.938 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPPL2 HGNC ENSG00000163286 12 0 0 3 3 50 GIGYF2 0 genome.wustl.edu 37 2 233655446 233655446 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 233655446 233655446 C T SNP GIGYF2 ENST00000373566 human ensembl 74_37 +1 known nonsense c.817 p.R273* 1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF2 HGNC ENSG00000204120 220 0 0 129 36 21.8182 INPP5D 0 genome.wustl.edu 37 2 234072453 234072453 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 234072453 234072453 C T SNP INPP5D ENST00000359570 human ensembl 74_37 +1 known silent c.1305 p.Y435 0.873 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2 - no_errors INPP5D HGNC ENSG00000168918 85 0 0 65 25 27.7778 INPP5D 0 genome.wustl.edu 37 2 234102498 234102498 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 234102498 234102498 G A SNP INPP5D ENST00000359570 human ensembl 74_37 +1 known silent c.2451 p.T817 0.000 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2 - no_errors INPP5D HGNC ENSG00000168918 121 0 0 79 22 21.7822 ATG16L1 0 genome.wustl.edu 37 2 234202917 234202917 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 234202917 234202917 C T SNP ATG16L1 ENST00000392017 human ensembl 74_37 +1 known missense c.1745 p.A582V 0.998 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Autophagy-rel_prot_16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors ATG16L1 HGNC ENSG00000085978 44 0 0 21 8 27.5862 TRPM8 0 genome.wustl.edu 37 2 234851360 234851360 + Silent SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 234851360 234851360 C A SNP TRPM8 ENST00000324695 human ensembl 74_37 +1 known silent c.667 p.R223 0.998 NULL pfam_Ion_trans_dom - no_errors TRPM8 HGNC ENSG00000144481 95 0 0 98 12 10.9091 TRPM8 0 genome.wustl.edu 37 2 234869622 234869622 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 234869622 234869622 C T SNP TRPM8 ENST00000324695 human ensembl 74_37 +1 known missense c.1565 p.T522M 0.994 NULL pfam_Ion_trans_dom - no_errors TRPM8 HGNC ENSG00000144481 87 0 0 70 5 6.66667 SH3BP4 0 genome.wustl.edu 37 2 235943670 235943670 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 235943670 235943670 G A SNP SH3BP4 ENST00000344528 human ensembl 74_37 +1 known silent c.24 p.A8 0.135 NULL pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors SH3BP4 HGNC ENSG00000130147 40 0 0 27 4 12.9032 SH3BP4 0 genome.wustl.edu 37 2 235950141 235950141 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 235950141 235950141 G A SNP SH3BP4 ENST00000344528 human ensembl 74_37 +1 known missense c.728 p.R243H 1.000 NULL pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors SH3BP4 HGNC ENSG00000130147 170 0 0 134 13 8.84354 AGAP1 0 genome.wustl.edu 37 2 236653360 236653360 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 236653360 236653360 G A SNP AGAP1 ENST00000304032 human ensembl 74_37 +1 known missense c.415 p.A139T 1.000 pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 105 0 0 76 17 18.2796 LOC101927958 0 genome.wustl.edu 37 2 239140913 239140913 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 239140913 239140913 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 103 0 0 62 24 27.907 ATAD2B 0 genome.wustl.edu 37 2 24033274 24033274 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 24033274 24033274 T C SNP ATAD2B ENST00000238789 human ensembl 74_37 -1 known missense c.2366 p.H789R 1.000 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2B HGNC ENSG00000119778 83 0 0 67 24 26.3736 OR6B2 0 genome.wustl.edu 37 2 240969447 240969447 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 240969447 240969447 C T SNP OR6B2 ENST00000402971 human ensembl 74_37 -1 known missense c.400 p.V134I 0.820 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 OR6B2 HGNC ENSG00000182083 9 0 0 7 5 41.6667 PRR21 0 genome.wustl.edu 37 2 240981392 240981392 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 240981392 240981392 G A SNP PRR21 ENST00000408934 human ensembl 74_37 -1 known silent c.1008 p.I336 0.037 NULL NULL - no_errors PRR21 HGNC ENSG00000221961 116 0 0 108 7 6.08696 RNPEPL1 0 genome.wustl.edu 37 2 241512589 241512589 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 241512589 241512589 C T SNP RNPEPL1 ENST00000270357 human ensembl 74_37 +1 known silent c.39 p.G13 0.981 pfam_Peptidase_M1_N pfam_Peptidase_M1_C,pfam_Peptidase_M1_N,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEPL1 HGNC ENSG00000142327 12 0 0 8 5 38.4615 RNPEPL1 0 genome.wustl.edu 37 2 241516387 241516387 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 241516387 241516387 C T SNP RNPEPL1 ENST00000270357 human ensembl 74_37 +1 known missense c.1171 p.R391W 1.000 pfam_Peptidase_M1_C,superfamily_ARM-type_fold pfam_Peptidase_M1_C,pfam_Peptidase_M1_N,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEPL1 HGNC ENSG00000142327 34 0 0 26 12 31.5789 CAPN10 0 genome.wustl.edu 37 2 241535745 241535745 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 241535745 241535745 C T SNP CAPN10 ENST00000391984 human ensembl 74_37 +1 known missense c.1288 p.R430W 1.000 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN10 HGNC ENSG00000142330 46 0 0 29 18 38.2979 CAPN10 0 genome.wustl.edu 37 2 241537370 241537370 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 241537370 241537370 C T SNP CAPN10 ENST00000391984 human ensembl 74_37 +1 known silent c.1809 p.C603 0.405 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_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN10 HGNC ENSG00000142330 13 0 0 9 4 30.7692 GPR35 0 genome.wustl.edu 37 2 241569890 241569890 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 241569890 241569890 C T SNP GPR35 ENST00000438013 human ensembl 74_37 +1 known missense c.614 p.A205V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR35 HGNC ENSG00000178623 62 0 0 32 11 25.5814 PASK 0 genome.wustl.edu 37 2 242051680 242051680 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 242051680 242051680 C T SNP PASK ENST00000358649 human ensembl 74_37 -1 known missense c.3529 p.A1177T 0.993 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,superfamily_PAS,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_dom,tigrfam_PAS - no_errors PASK HGNC ENSG00000115687 60 0 0 42 8 16 PASK 0 genome.wustl.edu 37 2 242075305 242075305 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 242075305 242075305 G A SNP PASK ENST00000358649 human ensembl 74_37 -1 known silent c.1287 p.D429 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,superfamily_PAS,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_dom,tigrfam_PAS - no_errors PASK HGNC ENSG00000115687 88 0 0 59 6 9.23077 FARP2 0 genome.wustl.edu 37 2 242375909 242375909 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 242375909 242375909 A G SNP FARP2 ENST00000264042 human ensembl 74_37 +1 known missense c.1114 p.T372A 0.754 pfam_FERM-adjacent pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FARP2 HGNC ENSG00000006607 104 0 0 105 8 7.07965 CXXC11 0 genome.wustl.edu 37 2 242814783 242814783 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 242814783 242814783 G A SNP CXXC11 ENST00000343216 human ensembl 74_37 +1 known missense c.1076 p.G359D 0.000 NULL NULL - no_errors CXXC11 HGNC ENSG00000188011 39 0 0 19 9 32.1429 ITSN2 0 genome.wustl.edu 37 2 24484596 24484596 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 24484596 24484596 C T SNP ITSN2 ENST00000355123 human ensembl 74_37 -1 known missense c.2371 p.V791I 0.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 41 0 0 36 12 25 POMC 0 genome.wustl.edu 37 2 25383970 25383970 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 25383970 25383970 C T SNP POMC ENST00000264708 human ensembl 74_37 -1 known missense c.784 p.A262T 1.000 pfam_Opioid_neuropept pfam_Mcrtin_ACTH_cent,pfam_Melanocortin_N,pfam_Opioid_neuropept,prints_Mcortin_ACTH - no_errors POMC HGNC ENSG00000115138 44 0 0 28 4 12.5 POMC 0 genome.wustl.edu 37 2 25384011 25384011 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 25384011 25384011 G A SNP POMC ENST00000264708 human ensembl 74_37 -1 known missense c.743 p.T248M 0.997 pfam_Opioid_neuropept pfam_Mcrtin_ACTH_cent,pfam_Melanocortin_N,pfam_Opioid_neuropept,prints_Mcortin_ACTH - no_errors POMC HGNC ENSG00000115138 33 0 0 21 7 25 HADHA 0 genome.wustl.edu 37 2 26414236 26414236 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 26414236 26414236 G A SNP HADHA ENST00000380649 human ensembl 74_37 -1 known silent c.2175 p.G725 0.557 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 66 0 0 57 18 24 HADHA 0 genome.wustl.edu 37 2 26437359 26437359 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 26437359 26437359 G A SNP HADHA ENST00000380649 human ensembl 74_37 -1 known nonsense c.871 p.R291* 0.976 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 124 1 0.8 57 20 25.974 OTOF 0 genome.wustl.edu 37 2 26781400 26781400 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 26781400 26781400 G A SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.40 p.R14W 1.000 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 53 0 0 27 10 27.027 DPYSL5 0 genome.wustl.edu 37 2 27121505 27121505 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 27121505 27121505 C T SNP DPYSL5 ENST00000288699 human ensembl 74_37 +1 known silent c.138 p.G46 0.227 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL5 HGNC ENSG00000157851 56 0 0 60 17 22.0779 ACP1 0 genome.wustl.edu 37 2 272055 272055 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 272055 272055 G A SNP ACP1 ENST00000272065 human ensembl 74_37 +1 known missense c.136 p.A46T 1.000 pfam_Ptyr_pPase_SF,superfamily_Ptyr_pPase_SF,smart_Ptyr_pPase_SF pfam_Ptyr_pPase_SF,superfamily_Ptyr_pPase_SF,smart_Ptyr_pPase_SF,prints_Tyr_Pase_low_mol_wt_mml,prints_Tyr_phospatase/Ars_reductase - no_errors ACP1 HGNC ENSG00000143727 54 0 0 40 18 31.0345 KHK 0 genome.wustl.edu 37 2 27322321 27322321 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 27322321 27322321 C T SNP KHK ENST00000260598 human ensembl 74_37 +1 known silent c.687 p.G229 0.137 pfam_PfkB_dom pfam_PfkB_dom - no_errors KHK HGNC ENSG00000138030 35 0 0 40 4 9.09091 SLC5A6 0 genome.wustl.edu 37 2 27428236 27428236 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 27428236 27428236 C T SNP SLC5A6 ENST00000310574 human ensembl 74_37 -1 known missense c.716 p.G239D 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A6 HGNC ENSG00000138074 41 0 0 32 6 15.7895 EIF2B4 0 genome.wustl.edu 37 2 27590383 27590383 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 27590383 27590383 C T SNP EIF2B4 ENST00000347454 human ensembl 74_37 -1 known missense c.826 p.A276T 1.000 pfam_IF-2B-related pfam_IF-2B-related - no_errors EIF2B4 HGNC ENSG00000115211 97 0 0 57 29 33.7209 PPP1CB 0 genome.wustl.edu 37 2 29016803 29016803 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 29016803 29016803 C T SNP PPP1CB ENST00000296122 human ensembl 74_37 +1 known silent c.819 p.G273 0.998 smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP1CB HGNC ENSG00000213639 86 0 0 61 15 19.7368 FAM179A 0 genome.wustl.edu 37 2 29222106 29222106 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 29222106 29222106 C T SNP FAM179A ENST00000379558 human ensembl 74_37 +1 known missense c.199 p.R67C 0.001 NULL pfam_CLASP_N_dom,superfamily_ARM-type_fold - no_errors FAM179A HGNC ENSG00000189350 34 0 0 32 4 11.1111 CLIP4 0 genome.wustl.edu 37 2 29404573 29404573 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 29404573 29404573 C T SNP CLIP4 ENST00000320081 human ensembl 74_37 +1 known silent c.1932 p.G644 1.000 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_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 88 0 0 68 8 10.5263 CAPN13 0 genome.wustl.edu 37 2 31010093 31010093 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 31010093 31010093 C T SNP CAPN13 ENST00000295055 human ensembl 74_37 -1 known silent c.99 p.R33 0.003 smart_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,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN13 HGNC ENSG00000162949 23 0 0 18 2 10 XDH 0 genome.wustl.edu 37 2 31567583 31567583 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 31567583 31567583 T C SNP XDH ENST00000379416 human ensembl 74_37 -1 known missense c.3371 p.D1124G 0.000 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 60 0 0 37 19 33.9286 XDH 0 genome.wustl.edu 37 2 31610722 31610722 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 31610722 31610722 C T SNP XDH ENST00000379416 human ensembl 74_37 -1 known silent c.606 p.T202 0.419 superfamily_FAD-bd_2,superfamily_2Fe-2S-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Xanthine_DH_ssu pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 12 0 0 5 3 37.5 TSSC1 0 genome.wustl.edu 37 2 3197897 3197897 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 3197897 3197897 G A SNP TSSC1 ENST00000382125 human ensembl 74_37 -1 known missense c.694 p.R232W 0.998 pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TSSC1 HGNC ENSG00000032389 116 0 0 90 6 6.25 BIRC6 0 genome.wustl.edu 37 2 32678971 32678971 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 32678971 32678971 T C SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.4714 p.S1572P 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 168 0 0 114 40 25.974 BIRC6 0 genome.wustl.edu 37 2 32750576 32750576 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 32750576 32750576 G A SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.11801 p.R3934H 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 61 0 0 52 19 26.7606 BIRC6 0 genome.wustl.edu 37 2 32756560 32756560 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 32756560 32756560 G A SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.12233 p.G4078D 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 45 0 0 47 7 12.963 TTC27 0 genome.wustl.edu 37 2 32958941 32958941 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 32958941 32958941 G A SNP TTC27 ENST00000317907 human ensembl 74_37 +1 known missense c.1280 p.R427H 1.000 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC27 HGNC ENSG00000018699 105 0 0 90 26 22.4138 MYADML 0 genome.wustl.edu 37 2 33952147 33952147 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 33952147 33952147 G A SNP MYADML ENST00000474610 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors MYADML HGNC ENSG00000239649 16 0 0 9 6 40 TRAPPC12 0 genome.wustl.edu 37 2 3469366 3469366 + Splice_Site SNP A A C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 3469366 3469366 A C SNP TRAPPC12 ENST00000324266 human ensembl 74_37 +1 known splice_site c.1678-2 e8-2 0.996 - - - no_errors TRAPPC12 HGNC ENSG00000171853 93 0 0 71 5 6.57895 CRIM1 0 genome.wustl.edu 37 2 36704131 36704131 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 36704131 36704131 C T SNP CRIM1 ENST00000280527 human ensembl 74_37 +1 known missense c.1091 p.A364V 1.000 pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C pfam_VWF_C,pfam_Antistasin-like,superfamily_Hirudin/antistatin,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C - no_errors CRIM1 HGNC ENSG00000150938 120 0 0 92 9 8.91089 CRIM1 0 genome.wustl.edu 37 2 36739513 36739513 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 36739513 36739513 G A SNP CRIM1 ENST00000280527 human ensembl 74_37 +1 known missense c.1756 p.G586S 1.000 pfam_Antistasin-like,superfamily_Hirudin/antistatin 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 154 0 0 76 33 30.2752 STRN 0 genome.wustl.edu 37 2 37085089 37085089 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 37085089 37085089 G A SNP STRN ENST00000263918 human ensembl 74_37 -1 known missense c.1747 p.R583C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors STRN HGNC ENSG00000115808 44 0 0 31 3 8.82353 QPCT 0 genome.wustl.edu 37 2 37594392 37594392 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 37594392 37594392 G A SNP QPCT ENST00000338415 human ensembl 74_37 +1 known silent c.564 p.K188 0.107 pfam_Peptidase_M28 pfam_Peptidase_M28 - no_errors QPCT HGNC ENSG00000115828 122 0 0 98 39 28.4672 LRPPRC 0 genome.wustl.edu 37 2 44200831 44200831 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 44200831 44200831 C T SNP LRPPRC ENST00000260665 human ensembl 74_37 -1 known silent c.1284 p.K428 0.940 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 138 0 0 142 9 5.96026 PPM1B 0 genome.wustl.edu 37 2 44428873 44428873 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 44428873 44428873 C T SNP PPM1B ENST00000282412 human ensembl 74_37 +1 known nonsense c.535 p.R179* 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 128 0 0 73 29 28.4314 STON1-GTF2A1L 0 genome.wustl.edu 37 2 48809431 48809431 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 48809431 48809431 G A SNP STON1-GTF2A1L ENST00000309827 human ensembl 74_37 +1 known silent c.1659 p.A553 0.001 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1-GTF2A1L HGNC ENSG00000068781 110 0 0 72 30 29.4118 STON1-GTF2A1L 0 genome.wustl.edu 37 2 48873848 48873848 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 48873848 48873848 T C SNP STON1-GTF2A1L ENST00000309827 human ensembl 74_37 +1 known silent c.2757 p.S919 0.000 pfam_TFIIA_asu/bsu pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1-GTF2A1L HGNC ENSG00000068781 78 0 0 72 27 27.2727 FSHR 0 genome.wustl.edu 37 2 49189950 49189950 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 49189950 49189950 G A SNP FSHR ENST00000406846 human ensembl 74_37 -1 known silent c.2010 p.G670 1.000 prints_FSH_rcpt pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 76 0 0 79 6 7.05882 NRXN1 0 genome.wustl.edu 37 2 50463984 50463984 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 50463984 50463984 G A SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known silent c.3465 p.A1155 0.002 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 70 0 0 70 4 5.40541 NRXN1 0 genome.wustl.edu 37 2 50724782 50724782 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 50724782 50724782 C T SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known silent c.2544 p.R848 0.967 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 106 0 0 70 30 30 NRXN1 0 genome.wustl.edu 37 2 50779924 50779924 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 50779924 50779924 G A SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known silent c.1536 p.S512 0.997 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 120 0 0 83 37 30.8333 NRXN1 0 genome.wustl.edu 37 2 51254674 51254674 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 51254674 51254674 C T SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known silent c.738 p.S246 0.584 smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 10 0 0 10 5 33.3333 NRXN1 0 genome.wustl.edu 37 2 51255287 51255287 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 51255287 51255287 C T SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.125 p.R42H 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 10 0 0 4 4 50 MTIF2 0 genome.wustl.edu 37 2 55490845 55490845 + Silent SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 55490845 55490845 G T SNP MTIF2 ENST00000263629 human ensembl 74_37 -1 known silent c.150 p.A50 0.000 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom - no_errors MTIF2 HGNC ENSG00000085760 118 1 0.840336 87 13 13 EFEMP1 0 genome.wustl.edu 37 2 56098194 56098194 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 56098194 56098194 G A SNP EFEMP1 ENST00000355426 human ensembl 74_37 -1 known silent c.1065 p.G355 0.061 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors EFEMP1 HGNC ENSG00000115380 53 0 0 58 14 19.4444 FANCL 0 genome.wustl.edu 37 2 58459193 58459193 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 58459193 58459193 C T SNP FANCL ENST00000233741 human ensembl 74_37 -1 known missense c.151 p.A51T 1.000 pfam_FancL_WD-rpt_cont_dom pfam_FancL_WD-rpt_cont_dom - no_errors FANCL HGNC ENSG00000115392 56 0 0 36 14 28 BCL11A 0 genome.wustl.edu 37 2 60679659 60679659 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 60679659 60679659 C T SNP BCL11A ENST00000489516 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors BCL11A HGNC ENSG00000119866 46 0 0 22 8 26.6667 PAPOLG 0 genome.wustl.edu 37 2 60997606 60997606 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 60997606 60997606 C T SNP PAPOLG ENST00000238714 human ensembl 74_37 +1 known missense c.452 p.A151V 1.000 pfam_PolA_pol_cen_dom,pfam_Nucleotidyltransferase,pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLG HGNC ENSG00000115421 48 0 0 29 8 21.6216 PUS10 0 genome.wustl.edu 37 2 61192233 61192233 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 61192233 61192233 G A SNP PUS10 ENST00000316752 human ensembl 74_37 -1 known missense c.683 p.A228V 0.063 NULL superfamily_PsdUridine_synth_cat_dom - no_errors PUS10 HGNC ENSG00000162927 108 0 0 68 36 34.6154 USP34 0 genome.wustl.edu 37 2 61415812 61415812 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 61415812 61415812 G A SNP USP34 ENST00000398571 human ensembl 74_37 -1 known missense c.10066 p.R3356C 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 77 0 0 53 16 23.1884 USP34 0 genome.wustl.edu 37 2 61447484 61447484 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 61447484 61447484 G A SNP USP34 ENST00000398571 human ensembl 74_37 -1 known missense c.8008 p.R2670W 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 367 0 0 341 26 7.08447 USP34 0 genome.wustl.edu 37 2 61575222 61575222 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 61575222 61575222 G A SNP USP34 ENST00000398571 human ensembl 74_37 -1 known nonsense c.2068 p.R690* 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 143 0 0 99 44 30.7692 USP34 0 genome.wustl.edu 37 2 61597500 61597500 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 61597500 61597500 G A SNP USP34 ENST00000398571 human ensembl 74_37 -1 known nonsense c.1207 p.R403* 0.828 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 168 0 0 121 35 22.4359 SPRED2 0 genome.wustl.edu 37 2 65540766 65540766 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 65540766 65540766 G T SNP SPRED2 ENST00000356388 human ensembl 74_37 -1 known missense c.1126 p.L376I 1.000 pfam_Sprouty pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED2 HGNC ENSG00000198369 38 0 0 36 7 16.2791 PROKR1 0 genome.wustl.edu 37 2 68882118 68882118 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 68882118 68882118 G A SNP PROKR1 ENST00000303786 human ensembl 74_37 +1 known missense c.592 p.A198T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR1 HGNC ENSG00000169618 123 0 0 104 11 9.56522 ARHGAP25 0 genome.wustl.edu 37 2 68962211 68962211 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 68962211 68962211 G A SNP ARHGAP25 ENST00000456116 human ensembl 74_37 +1 known rna NULL NULL 0.669 - - - no_errors ARHGAP25 HGNC ENSG00000163219 19 0 0 10 4 28.5714 ARHGAP25 0 genome.wustl.edu 37 2 68962276 68962276 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 68962276 68962276 C T SNP ARHGAP25 ENST00000456116 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ARHGAP25 HGNC ENSG00000163219 69 0 0 62 9 12.6761 AAK1 0 genome.wustl.edu 37 2 69870045 69870045 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 69870045 69870045 C T SNP AAK1 ENST00000409085 human ensembl 74_37 -1 known missense c.128 p.R43Q 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 AAK1 HGNC ENSG00000115977 45 0 0 35 9 20.4545 TGFA 0 genome.wustl.edu 37 2 70692857 70692857 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 70692857 70692857 C T SNP TGFA ENST00000295400 human ensembl 74_37 -1 known missense c.106 p.V36M 0.115 NULL pfscan_EG-like_dom - no_errors TGFA HGNC ENSG00000163235 35 0 0 15 8 34.7826 ADD2 0 genome.wustl.edu 37 2 70933382 70933382 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 70933382 70933382 G A SNP ADD2 ENST00000264436 human ensembl 74_37 -1 known silent c.159 p.R53 0.646 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 38 0 0 19 8 29.6296 ADD2 0 genome.wustl.edu 37 2 70933547 70933547 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 70933547 70933547 G A SNP ADD2 ENST00000430656 human ensembl 74_37 -1 known silent c.42 p.T14 0.081 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 32 0 0 23 6 20.6897 CLEC4F 0 genome.wustl.edu 37 2 71036887 71036887 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 71036887 71036887 C T SNP CLEC4F ENST00000272367 human ensembl 74_37 -1 known missense c.1642 p.A548T 0.000 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,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4F HGNC ENSG00000152672 88 0 0 57 18 24 ZNF638 0 genome.wustl.edu 37 2 71627611 71627611 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 71627611 71627611 C T SNP ZNF638 ENST00000264447 human ensembl 74_37 +1 known missense c.2660 p.A887V 1.000 NULL pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors ZNF638 HGNC ENSG00000075292 60 0 0 50 4 7.40741 CCT7 0 genome.wustl.edu 37 2 73478490 73478490 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 73478490 73478490 G A SNP CCT7 ENST00000258091 human ensembl 74_37 +1 known missense c.1340 p.R447H 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_eta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_eta - no_errors CCT7 HGNC ENSG00000135624 127 0 0 118 8 6.34921 EGR4 0 genome.wustl.edu 37 2 73518781 73518781 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 73518781 73518781 C A SNP EGR4 ENST00000545030 human ensembl 74_37 -1 known missense c.1574 p.S525I 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR4 HGNC ENSG00000135625 33 0 0 24 9 27.2727 EGR4 0 genome.wustl.edu 37 2 73519457 73519457 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 73519457 73519457 C T SNP EGR4 ENST00000545030 human ensembl 74_37 -1 known missense c.898 p.A300T 0.995 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR4 HGNC ENSG00000135625 10 0 0 8 6 42.8571 ALMS1 0 genome.wustl.edu 37 2 73717261 73717261 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 73717261 73717261 C T SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known silent c.8172 p.C2724 0.994 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 176 0 0 106 35 24.8227 ACTG2 0 genome.wustl.edu 37 2 74136221 74136221 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 74136221 74136221 G A SNP ACTG2 ENST00000345517 human ensembl 74_37 +1 known missense c.406 p.A136T 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTG2 HGNC ENSG00000163017 115 0 0 72 28 28 TET3 0 genome.wustl.edu 37 2 74317033 74317033 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 74317033 74317033 C T SNP TET3 ENST00000409262 human ensembl 74_37 +1 known silent c.2493 p.C831 0.993 NULL NULL - no_errors TET3 HGNC ENSG00000187605 189 0 0 105 43 29.0541 MOGS 0 genome.wustl.edu 37 2 74688835 74688835 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 74688835 74688835 A G SNP MOGS ENST00000233616 human ensembl 74_37 -1 known missense c.2081 p.L694P 1.000 pfam_Glycoside_hydrolase_63,superfamily_6-hairpin_glycosidase-like pfam_Glycoside_hydrolase_63,superfamily_6-hairpin_glycosidase-like - no_errors MOGS HGNC ENSG00000115275 84 0 0 37 17 31.4815 HK2 0 genome.wustl.edu 37 2 75116443 75116443 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 75116443 75116443 G A SNP HK2 ENST00000290573 human ensembl 74_37 +1 known missense c.2447 p.S816N 1.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK2 HGNC ENSG00000159399 35 0 0 25 8 24.2424 ENSG00000237077 0 genome.wustl.edu 37 2 78020056 78020056 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 78020056 78020056 G A SNP ENSG00000237077 ENST00000422418 human ensembl 74_37 +1 putative rna NULL NULL 0.989 - - - no_errors AC105399.2 Clone_based_vega_gene ENSG00000237077 42 0 0 33 15 31.25 LRRTM1 0 genome.wustl.edu 37 2 80530493 80530493 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 80530493 80530493 G A SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known missense c.452 p.A151V 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 43 0 0 36 9 20 KCMF1 0 genome.wustl.edu 37 2 85276640 85276640 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 85276640 85276640 A G SNP KCMF1 ENST00000409785 human ensembl 74_37 +1 known silent c.753 p.A251 0.974 pfam_Di19_Zn_binding pfam_Znf_ZZ,pfam_Di19_Zn_binding,smart_Znf_ZZ,smart_Znf_C2H2-like,pfscan_Znf_ZZ,pfscan_Znf_C2H2 - no_errors KCMF1 HGNC ENSG00000176407 54 0 0 52 4 7.14286 RETSAT 0 genome.wustl.edu 37 2 85578103 85578103 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 85578103 85578103 G A SNP RETSAT ENST00000295802 human ensembl 74_37 -1 known missense c.397 p.R133C 0.989 pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase pfam_Amino_oxidase,pfam_FAD_bind_dom,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_mOase_FAD-bd - no_errors RETSAT HGNC ENSG00000042445 61 0 0 38 14 26.9231 KDM3A 0 genome.wustl.edu 37 2 86677062 86677062 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 86677062 86677062 C T SNP KDM3A ENST00000312912 human ensembl 74_37 +1 known nonsense c.319 p.R107* 0.295 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 149 0 0 127 12 8.63309 KDM3A 0 genome.wustl.edu 37 2 86705832 86705832 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 86705832 86705832 C T SNP KDM3A ENST00000312912 human ensembl 74_37 +1 known missense c.2290 p.P764S 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 139 0 0 94 16 14.5455 THNSL2 0 genome.wustl.edu 37 2 88474827 88474827 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 88474827 88474827 G A SNP THNSL2 ENST00000324166 human ensembl 74_37 +1 known missense c.478 p.D160N 1.000 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like - no_errors THNSL2 HGNC ENSG00000144115 64 0 0 36 13 26.5306 KIDINS220 0 genome.wustl.edu 37 2 8871355 8871355 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 8871355 8871355 G A SNP KIDINS220 ENST00000256707 human ensembl 74_37 -1 known missense c.4811 p.A1604V 0.001 NULL 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 34 0 0 31 14 31.1111 ASAP2 0 genome.wustl.edu 37 2 9437489 9437489 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 9437489 9437489 T C SNP ASAP2 ENST00000281419 human ensembl 74_37 +1 known missense c.260 p.V87A 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP2 HGNC ENSG00000151693 82 0 0 66 6 8.33333 ITGB1BP1 0 genome.wustl.edu 37 2 9548269 9548269 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 9548269 9548269 G A SNP ITGB1BP1 ENST00000355346 human ensembl 74_37 -1 known silent c.354 p.G118 0.100 pfam_Integrin-bd_ICAP-1,smart_PTB/PI_dom pfam_Integrin-bd_ICAP-1,smart_PTB/PI_dom - no_errors ITGB1BP1 HGNC ENSG00000119185 64 0 0 55 10 15.3846 ANKRD20A8P 0 genome.wustl.edu 37 2 95488801 95488801 + RNA SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 95488801 95488801 G T SNP ANKRD20A8P ENST00000432432 human ensembl 74_37 -1 known rna NULL NULL 0.176 - - - no_errors ANKRD20A8P HGNC ENSG00000229089 145 1 0.684932 116 32 21.6216 CPSF3 0 genome.wustl.edu 37 2 9572738 9572738 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 9572738 9572738 C T SNP CPSF3 ENST00000238112 human ensembl 74_37 +1 known missense c.440 p.A147V 1.000 pfam_Beta-lactamas-like,smart_Beta-lactamas-like pfam_CPSF73-100_C,pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like - no_errors CPSF3 HGNC ENSG00000119203 55 0 0 47 4 7.84314 FAHD2A 0 genome.wustl.edu 37 2 96072853 96072853 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 96072853 96072853 C T SNP FAHD2A ENST00000233379 human ensembl 74_37 +1 known missense c.410 p.A137V 0.998 pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel - no_errors FAHD2A HGNC ENSG00000115042 93 0 0 74 19 20.4301 IAH1 0 genome.wustl.edu 37 2 9624576 9624576 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 9624576 9624576 G A SNP IAH1 ENST00000497473 human ensembl 74_37 +1 known missense c.461 p.R154H 0.996 pfam_Lipase_GDSL pfam_Lipase_GDSL - no_errors IAH1 HGNC ENSG00000134330 120 0 0 75 19 20.2128 ADAM17 0 genome.wustl.edu 37 2 9634874 9634874 + Silent SNP C C G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 9634874 9634874 C G SNP ADAM17 ENST00000310823 human ensembl 74_37 -1 known silent c.1806 p.V602 1.000 NULL pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM17 HGNC ENSG00000151694 73 0 0 76 4 5 ANKRD36C 0 genome.wustl.edu 37 2 96657298 96657298 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 96657298 96657298 G A SNP ANKRD36C ENST00000456556 human ensembl 74_37 -1 known silent c.159 p.L53 0.002 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36C HGNC ENSG00000174501 24 0 0 20 8 28.5714 STARD7 0 genome.wustl.edu 37 2 96858204 96858204 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 96858204 96858204 G A SNP STARD7 ENST00000337288 human ensembl 74_37 -1 known missense c.746 p.A249V 1.000 pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors STARD7 HGNC ENSG00000084090 160 0 0 129 38 22.7545 ITPRIPL1 0 genome.wustl.edu 37 2 96992605 96992605 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 96992605 96992605 A G SNP ITPRIPL1 ENST00000361124 human ensembl 74_37 +1 known missense c.260 p.D87G 0.862 NULL NULL - no_errors ITPRIPL1 HGNC ENSG00000198885 63 0 0 65 4 5.7971 NCAPH 0 genome.wustl.edu 37 2 97024926 97024926 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 97024926 97024926 G A SNP NCAPH ENST00000240423 human ensembl 74_37 +1 known missense c.1352 p.R451H 0.964 pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2 pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2 - no_errors NCAPH HGNC ENSG00000121152 75 0 0 60 7 10.4478 YWHAQ 0 genome.wustl.edu 37 2 9728312 9728312 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 9728312 9728312 G A SNP YWHAQ ENST00000238081 human ensembl 74_37 -1 known silent c.564 p.A188 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAQ HGNC ENSG00000134308 85 0 0 55 18 24.6575 ANKRD36 0 genome.wustl.edu 37 2 97784178 97784178 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 97784178 97784178 A G SNP ANKRD36 ENST00000420699 human ensembl 74_37 +1 known missense c.410 p.Y137C 0.982 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 - no_errors ANKRD36 HGNC ENSG00000135976 61 0 0 36 18 33.3333 TMEM131 0 genome.wustl.edu 37 2 98409946 98409946 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 98409946 98409946 G A SNP TMEM131 ENST00000186436 human ensembl 74_37 -1 known missense c.3457 p.R1153W 1.000 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 50 0 0 48 14 22.5806 LIPT1 0 genome.wustl.edu 37 2 99778541 99778541 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 99778541 99778541 G A SNP LIPT1 ENST00000340066 human ensembl 74_37 +1 known missense c.121 p.V41I 0.999 tigrfam_LipoylTrfase_LipoateP_Ligase pfam_BPL_LipA_LipB,tigrfam_LipoylTrfase_LipoateP_Ligase - no_errors LIPT1 HGNC ENSG00000144182 157 0 0 147 8 5.16129 EIF5B 0 genome.wustl.edu 37 2 99976770 99976770 + Missense_Mutation SNP A A T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 99976770 99976770 A T SNP EIF5B ENST00000289371 human ensembl 74_37 +1 known missense c.107 p.E36V 1.000 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 48 0 0 43 21 32.8125 EIF5B 0 genome.wustl.edu 37 2 99978220 99978220 + Missense_Mutation SNP A A T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 99978220 99978220 A T SNP EIF5B ENST00000289371 human ensembl 74_37 +1 known missense c.856 p.T286S 0.002 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 203 0 0 150 40 21.0526 ANKEF1 0 genome.wustl.edu 37 20 10036276 10036276 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 10036276 10036276 G A SNP ANKEF1 ENST00000378380 human ensembl 74_37 +1 known missense c.2299 p.A767T 0.967 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EF_hand_dom,prints_Ankyrin_rpt - no_errors ANKEF1 HGNC ENSG00000132623 98 0 0 128 22 14.6667 SLX4IP 0 genome.wustl.edu 37 20 10603861 10603861 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 10603861 10603861 C T SNP SLX4IP ENST00000334534 human ensembl 74_37 +1 known missense c.1061 p.T354M 0.000 NULL NULL - no_errors SLX4IP HGNC ENSG00000149346 101 0 0 117 24 17.0213 JAG1 0 genome.wustl.edu 37 20 10620233 10620233 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 10620233 10620233 C T SNP JAG1 ENST00000254958 human ensembl 74_37 -1 known silent c.3570 p.P1190 0.965 NULL 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 159 0 0 210 19 8.29694 SNPH 0 genome.wustl.edu 37 20 1277814 1277814 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 1277814 1277814 C T SNP SNPH ENST00000381867 human ensembl 74_37 +1 known missense c.208 p.R70W 1.000 NULL NULL - no_errors SNPH HGNC ENSG00000101298 26 0 0 24 8 25 TASP1 0 genome.wustl.edu 37 20 13370985 13370985 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 13370985 13370985 G A SNP TASP1 ENST00000480436 human ensembl 74_37 -1 known rna NULL NULL 0.192 - - - no_errors TASP1 HGNC ENSG00000089123 24 0 0 14 5 26.3158 TASP1 0 genome.wustl.edu 37 20 13604122 13604122 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 13604122 13604122 C T SNP TASP1 ENST00000337743 human ensembl 74_37 -1 known missense c.253 p.A85T 1.000 pfam_Peptidase_T2 pfam_Peptidase_T2 - no_errors TASP1 HGNC ENSG00000089123 39 0 0 34 10 22.7273 ESF1 0 genome.wustl.edu 37 20 13763615 13763615 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 13763615 13763615 G A SNP ESF1 ENST00000202816 human ensembl 74_37 -1 known missense c.172 p.R58C 0.995 NULL pfam_NUC153 - no_errors ESF1 HGNC ENSG00000089048 93 0 0 75 54 41.8605 SEL1L2 0 genome.wustl.edu 37 20 13839962 13839962 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 13839962 13839962 C T SNP SEL1L2 ENST00000284951 human ensembl 74_37 -1 known silent c.1764 p.A588 0.981 pfam_Sel1-like,smart_Sel1-like pfam_Sel1-like,smart_Sel1-like - no_errors SEL1L2 HGNC ENSG00000101251 40 0 0 41 11 21.1538 SIRPB2 0 genome.wustl.edu 37 20 1459011 1459011 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 1459011 1459011 G A SNP SIRPB2 ENST00000359801 human ensembl 74_37 -1 known silent c.693 p.N231 0.000 pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIRPB2 HGNC ENSG00000196209 115 0 0 106 13 10.9244 MACROD2 0 genome.wustl.edu 37 20 14665514 14665514 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 14665514 14665514 C T SNP MACROD2 ENST00000310348 human ensembl 74_37 +1 known silent c.327 p.A109 0.908 pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom - no_errors MACROD2 HGNC ENSG00000172264 111 0 0 102 26 20.3125 SIRPB1 0 genome.wustl.edu 37 20 1558987 1558987 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 1558987 1558987 G A SNP SIRPB1 ENST00000381605 human ensembl 74_37 -1 known missense c.430 p.R144C 0.050 smart_Ig_sub pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors SIRPB1 HGNC ENSG00000101307 108 0 0 116 20 14.7059 MACROD2 0 genome.wustl.edu 37 20 16030511 16030511 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 16030511 16030511 G A SNP MACROD2 ENST00000310348 human ensembl 74_37 +1 known missense c.1337 p.G446E 0.048 NULL pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom - no_errors MACROD2 HGNC ENSG00000172264 68 0 0 85 6 6.59341 SIRPG 0 genome.wustl.edu 37 20 1616842 1616842 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 1616842 1616842 G A SNP SIRPG ENST00000303415 human ensembl 74_37 -1 known missense c.740 p.A247V 0.006 NULL pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors SIRPG HGNC ENSG00000089012 34 0 0 64 9 12.3288 CSRP2BP 0 genome.wustl.edu 37 20 18163860 18163860 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 18163860 18163860 C T SNP CSRP2BP ENST00000435364 human ensembl 74_37 +1 known silent c.1902 p.P634 0.026 NULL pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors CSRP2BP HGNC ENSG00000149474 121 0 0 111 20 15.2672 ZNF133 0 genome.wustl.edu 37 20 18296267 18296267 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 18296267 18296267 G A SNP ZNF133 ENST00000396026 human ensembl 74_37 +1 known missense c.781 p.A261T 0.227 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 ZNF133 HGNC ENSG00000125846 41 0 0 64 9 12.3288 SEC23B 0 genome.wustl.edu 37 20 18535003 18535003 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 18535003 18535003 G A SNP SEC23B ENST00000262544 human ensembl 74_37 +1 known missense c.2117 p.R706H 0.947 pfam_Gelsolin_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Gelsolin_dom,pfam_Znf_Sec23_Sec24,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23B HGNC ENSG00000101310 105 0 0 138 36 20.6897 SLC24A3 0 genome.wustl.edu 37 20 19674014 19674014 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 19674014 19674014 C T SNP SLC24A3 ENST00000328041 human ensembl 74_37 +1 known missense c.1436 p.T479M 1.000 tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A3 HGNC ENSG00000185052 86 0 0 81 19 19 C20orf26 0 genome.wustl.edu 37 20 20269550 20269550 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 20269550 20269550 A G SNP C20orf26 ENST00000245957 human ensembl 74_37 +1 known missense c.3094 p.I1032V 0.998 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 46 0 0 34 4 10.5263 RALGAPA2 0 genome.wustl.edu 37 20 20552181 20552181 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 20552181 20552181 C T SNP RALGAPA2 ENST00000202677 human ensembl 74_37 -1 known missense c.3077 p.R1026H 1.000 superfamily_ARM-type_fold pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA2 HGNC ENSG00000188559 47 0 0 44 8 15.3846 STK35 0 genome.wustl.edu 37 20 2097969 2097969 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 2097969 2097969 G A SNP STK35 ENST00000381482 human ensembl 74_37 +1 known missense c.1550 p.R517Q 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 STK35 HGNC ENSG00000125834 112 0 0 150 12 7.40741 XRN2 0 genome.wustl.edu 37 20 21311291 21311291 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 21311291 21311291 G A SNP XRN2 ENST00000377191 human ensembl 74_37 +1 known missense c.524 p.R175H 1.000 pfam_Put_53exo,pirsf_5_3_exoribonuclease_2 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 - no_errors XRN2 HGNC ENSG00000088930 68 0 0 77 5 6.09756 FOXA2 0 genome.wustl.edu 37 20 22563405 22563405 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 22563405 22563405 G A SNP FOXA2 ENST00000419308 human ensembl 74_37 -1 known missense c.475 p.R159C 1.000 pfam_Fork-head_N pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA2 HGNC ENSG00000125798 78 0 0 67 5 6.94444 SSTR4 0 genome.wustl.edu 37 20 23016316 23016316 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 23016316 23016316 G A SNP SSTR4 ENST00000255008 human ensembl 74_37 +1 known missense c.196 p.A66T 0.999 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_4,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_1 - no_errors SSTR4 HGNC ENSG00000132671 72 0 0 58 17 22.6667 CD93 0 genome.wustl.edu 37 20 23065010 23065010 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 23065010 23065010 C T SNP CD93 ENST00000246006 human ensembl 74_37 -1 known missense c.1820 p.R607H 0.985 superfamily_MFS_dom_general_subst_transpt pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CD93 HGNC ENSG00000125810 100 0 0 123 20 13.986 TGM3 0 genome.wustl.edu 37 20 2312868 2312868 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 2312868 2312868 C T SNP TGM3 ENST00000381458 human ensembl 74_37 +1 known silent c.1554 p.N518 1.000 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 37 0 0 46 5 9.80392 GZF1 0 genome.wustl.edu 37 20 23345592 23345592 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 23345592 23345592 G A SNP GZF1 ENST00000338121 human ensembl 74_37 +1 known missense c.572 p.G191D 0.012 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors GZF1 HGNC ENSG00000125812 79 0 0 86 15 14.8515 GZF1 0 genome.wustl.edu 37 20 23346300 23346300 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 23346300 23346300 G A SNP GZF1 ENST00000338121 human ensembl 74_37 +1 known missense c.1280 p.R427H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors GZF1 HGNC ENSG00000125812 13 0 0 27 5 15.625 CST11 0 genome.wustl.edu 37 20 23432462 23432462 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 23432462 23432462 C T SNP CST11 ENST00000377009 human ensembl 74_37 -1 known silent c.324 p.E108 0.002 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST11 HGNC ENSG00000125831 55 0 0 51 14 21.5385 SNRPB 0 genome.wustl.edu 37 20 2442418 2442418 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 2442418 2442418 C T SNP SNRPB ENST00000438552 human ensembl 74_37 -1 known missense c.707 p.R236H 1.000 pirsf_snRNP-assoc_SmB/SmN pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN - no_errors SNRPB HGNC ENSG00000125835 31 0 0 44 10 18.5185 SYNDIG1 0 genome.wustl.edu 37 20 24646036 24646036 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 24646036 24646036 C T SNP SYNDIG1 ENST00000376862 human ensembl 74_37 +1 known missense c.673 p.R225W 1.000 pfam_CD225/Dispanin_fam pfam_CD225/Dispanin_fam - no_errors SYNDIG1 HGNC ENSG00000101463 106 0 0 107 8 6.95652 ENTPD6 0 genome.wustl.edu 37 20 25187856 25187856 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 25187856 25187856 G A SNP ENTPD6 ENST00000376652 human ensembl 74_37 +1 known missense c.199 p.A67T 0.236 NULL pfam_GDA1_CD39_NTPase - no_errors ENTPD6 HGNC ENSG00000197586 29 0 0 32 8 20 ZNF337 0 genome.wustl.edu 37 20 25657197 25657197 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 25657197 25657197 G A SNP ZNF337 ENST00000252979 human ensembl 74_37 -1 known nonsense c.727 p.R243* 0.377 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 ZNF337 HGNC ENSG00000130684 116 0 0 99 31 23.8462 C20orf96 0 genome.wustl.edu 37 20 257710 257710 + Missense_Mutation SNP T T G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 257710 257710 T G SNP C20orf96 ENST00000360321 human ensembl 74_37 -1 known missense c.800 p.K267T 0.000 NULL NULL - no_errors C20orf96 HGNC ENSG00000196476 264 0 0 270 15 5.26316 TMC2 0 genome.wustl.edu 37 20 2621828 2621828 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 2621828 2621828 C T SNP TMC2 ENST00000358864 human ensembl 74_37 +1 known missense c.2552 p.A851V 0.030 NULL pfam_TMC - no_errors TMC2 HGNC ENSG00000149488 81 0 0 89 8 8.24742 CPXM1 0 genome.wustl.edu 37 20 2776949 2776949 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 2776949 2776949 G A SNP CPXM1 ENST00000380605 human ensembl 74_37 -1 known missense c.1186 p.R396C 1.000 pfam_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 CPXM1 HGNC ENSG00000088882 50 0 0 50 6 10.7143 C20orf141 0 genome.wustl.edu 37 20 2796188 2796188 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 2796188 2796188 G A SNP C20orf141 ENST00000380589 human ensembl 74_37 +1 known missense c.265 p.A89T 0.000 NULL NULL - no_errors C20orf141 HGNC ENSG00000258713 37 0 0 34 12 26.087 PCED1A 0 genome.wustl.edu 37 20 2818955 2818955 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 2818955 2818955 C T SNP PCED1A ENST00000360652 human ensembl 74_37 -1 known missense c.764 p.R255H 1.000 NULL NULL - no_errors PCED1A HGNC ENSG00000132635 87 0 0 65 11 14.4737 VPS16 0 genome.wustl.edu 37 20 2844008 2844008 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 2844008 2844008 C T SNP VPS16 ENST00000380445 human ensembl 74_37 +1 known silent c.1440 p.G480 0.201 pirsf_VPS16 pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16 - no_errors VPS16 HGNC ENSG00000215305 88 0 0 94 5 5.05051 PTPRA 0 genome.wustl.edu 37 20 2945651 2945651 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 2945651 2945651 C T SNP PTPRA ENST00000425918 human ensembl 74_37 +1 known missense c.251 p.P84L 0.861 pirsf_Tyr_Pase_rcpt_a/e-type pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRA HGNC ENSG00000132670 138 0 0 161 11 6.39535 HM13 0 genome.wustl.edu 37 20 30147438 30147438 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 30147438 30147438 G A SNP HM13 ENST00000398174 human ensembl 74_37 +1 known missense c.833 p.R278H 1.000 pfam_Peptidase_A22B_SPP,smart_Preselin/SPP pfam_Peptidase_A22B_SPP,smart_Preselin/SPP - no_errors HM13 HGNC ENSG00000101294 420 0 0 456 91 16.6362 HM13 0 genome.wustl.edu 37 20 30153982 30153982 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 30153982 30153982 C T SNP HM13 ENST00000487281 human ensembl 74_37 +1 known rna NULL NULL 0.096 - - - no_errors HM13 HGNC ENSG00000101294 31 0 0 30 6 16.6667 AVP 0 genome.wustl.edu 37 20 3065221 3065221 + Missense_Mutation SNP A A C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 3065221 3065221 A C SNP AVP ENST00000380293 human ensembl 74_37 -1 known missense c.100 p.S34A 0.000 superfamily_Neurhyp_horm,pirsf_Neurhyp_horm,prints_Neurhyp_horm pfam_Neurhyp_horm,superfamily_Neurhyp_horm,smart_Neurhyp_horm,pirsf_Neurhyp_horm,prints_Neurhyp_horm - no_errors AVP HGNC ENSG00000101200 118 1 0.840336 144 9 5.88235 TM9SF4 0 genome.wustl.edu 37 20 30745754 30745754 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 30745754 30745754 A G SNP TM9SF4 ENST00000398022 human ensembl 74_37 +1 known missense c.1487 p.Y496C 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF4 HGNC ENSG00000101337 72 0 0 77 9 10.4651 POFUT1 0 genome.wustl.edu 37 20 30803242 30803242 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 30803242 30803242 G A SNP POFUT1 ENST00000375749 human ensembl 74_37 +1 known silent c.417 p.T139 0.256 pfam_GDP-Fuc_O-FucTrfase pfam_GDP-Fuc_O-FucTrfase - no_errors POFUT1 HGNC ENSG00000101346 85 0 0 74 14 15.9091 C20orf112 0 genome.wustl.edu 37 20 31041289 31041289 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 31041289 31041289 G A SNP C20orf112 ENST00000359676 human ensembl 74_37 -1 known missense c.583 p.R195C 1.000 NULL NULL - no_errors C20orf112 HGNC ENSG00000197183 88 0 0 62 13 17.3333 C20orf112 0 genome.wustl.edu 37 20 31044021 31044021 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 31044021 31044021 G A SNP C20orf112 ENST00000359676 human ensembl 74_37 -1 known missense c.287 p.P96L 0.958 NULL NULL - no_errors C20orf112 HGNC ENSG00000197183 30 0 0 27 7 20.5882 FASTKD5 0 genome.wustl.edu 37 20 3128084 3128084 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 3128084 3128084 G A SNP FASTKD5 ENST00000380266 human ensembl 74_37 -1 known silent c.1633 p.L545 0.998 pfam_FAST_2 pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD5 HGNC ENSG00000215251 72 0 0 91 8 8.08081 DNMT3B 0 genome.wustl.edu 37 20 31383281 31383281 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 31383281 31383281 G A SNP DNMT3B ENST00000328111 human ensembl 74_37 +1 known missense c.1193 p.R398H 1.000 NULL pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3B HGNC ENSG00000088305 73 0 0 83 11 11.7021 DNMT3B 0 genome.wustl.edu 37 20 31386409 31386409 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 31386409 31386409 G A SNP DNMT3B ENST00000328111 human ensembl 74_37 +1 known missense c.1634 p.R545H 0.985 superfamily_Znf_FYVE_PHD pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3B HGNC ENSG00000088305 39 0 0 34 4 10.5263 BPIFB3 0 genome.wustl.edu 37 20 31657706 31657706 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 31657706 31657706 C T SNP BPIFB3 ENST00000375494 human ensembl 74_37 +1 known missense c.1162 p.R388C 0.713 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB3 HGNC ENSG00000186190 267 0 0 266 57 17.6471 BPIFB1 0 genome.wustl.edu 37 20 31890858 31890858 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 31890858 31890858 G A SNP BPIFB1 ENST00000253354 human ensembl 74_37 +1 known missense c.1118 p.R373H 0.025 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,pirsf_PLUNC_long_form pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form - no_errors BPIFB1 HGNC ENSG00000125999 120 1 0.826446 115 13 10.1562 CDK5RAP1 0 genome.wustl.edu 37 20 31954730 31954730 + Silent SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 31954730 31954730 G T SNP CDK5RAP1 ENST00000357886 human ensembl 74_37 -1 known silent c.1519 p.R507 0.998 tigrfam_MiaB_methiolase,tigrfam_Methylthiotransferase pfam_rSAM,pfam_Methylthiotransferase_N,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB_methiolase,tigrfam_Methylthiotransferase - no_errors CDK5RAP1 HGNC ENSG00000101391 121 0 0 160 38 19.1919 SLC4A11 0 genome.wustl.edu 37 20 3210034 3210034 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 3210034 3210034 C T SNP SLC4A11 ENST00000380059 human ensembl 74_37 -1 known missense c.1936 p.A646T 1.000 pfam_HCO3_transpt_C,prints_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_PTS_EIIA_type-2_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk - no_errors SLC4A11 HGNC ENSG00000088836 38 0 0 51 5 8.92857 SLC4A11 0 genome.wustl.edu 37 20 3212106 3212106 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 3212106 3212106 C T SNP SLC4A11 ENST00000380059 human ensembl 74_37 -1 known missense c.947 p.R316H 1.000 pfam_PTS_EIIA_type-2_dom,superfamily_PTrfase/Anion_transptr pfam_HCO3_transpt_C,pfam_PTS_EIIA_type-2_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk - no_errors SLC4A11 HGNC ENSG00000088836 78 0 0 94 6 6 SLC4A11 0 genome.wustl.edu 37 20 3214613 3214613 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 3214613 3214613 C T SNP SLC4A11 ENST00000380059 human ensembl 74_37 -1 known missense c.688 p.A230T 0.995 superfamily_PTrfase/Anion_transptr pfam_HCO3_transpt_C,pfam_PTS_EIIA_type-2_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk - no_errors SLC4A11 HGNC ENSG00000088836 72 0 0 102 9 8.10811 CBFA2T2 0 genome.wustl.edu 37 20 32199012 32199012 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 32199012 32199012 A G SNP CBFA2T2 ENST00000346541 human ensembl 74_37 +1 known silent c.318 p.Q106 0.994 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTGR1 - no_errors CBFA2T2 HGNC ENSG00000078699 177 0 0 191 14 6.82927 NECAB3 0 genome.wustl.edu 37 20 32248163 32248163 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 32248163 32248163 C T SNP NECAB3 ENST00000246190 human ensembl 74_37 -1 known silent c.426 p.T142 0.074 NULL pfam_Antibiotic_mOase,pfam_EF_hand_dom,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NECAB3 HGNC ENSG00000125967 41 0 0 56 7 11.1111 MAP1LC3A 0 genome.wustl.edu 37 20 33147564 33147564 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 33147564 33147564 G A SNP MAP1LC3A ENST00000360668 human ensembl 74_37 +1 known silent c.228 p.T76 1.000 pfam_Atg8_fam,pfam_Atg12 pfam_Atg8_fam,pfam_Atg12 - no_errors MAP1LC3A HGNC ENSG00000101460 51 0 0 49 8 14.0351 MYH7B 0 genome.wustl.edu 37 20 33568472 33568472 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 33568472 33568472 G A SNP MYH7B ENST00000262873 human ensembl 74_37 +1 novel missense c.560 p.R187H 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_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 124 0 0 126 13 9.35252 PROCR 0 genome.wustl.edu 37 20 33764049 33764049 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 33764049 33764049 C A SNP PROCR ENST00000216968 human ensembl 74_37 +1 known missense c.401 p.A134D 0.673 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors PROCR HGNC ENSG00000101000 73 0 0 77 23 23 FAM83C 0 genome.wustl.edu 37 20 33874717 33874717 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 33874717 33874717 G A SNP FAM83C ENST00000374408 human ensembl 74_37 -1 known missense c.1865 p.A622V 0.003 NULL pfam_DUF1669 - no_errors FAM83C HGNC ENSG00000125998 52 0 0 55 7 11.2903 CEP250 0 genome.wustl.edu 37 20 34091280 34091280 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 34091280 34091280 C T SNP CEP250 ENST00000397527 human ensembl 74_37 +1 known nonsense c.5083 p.R1695* 0.694 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 131 0 0 131 15 10.274 NFS1 0 genome.wustl.edu 37 20 34262504 34262504 + Silent SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 34262504 34262504 C A SNP NFS1 ENST00000374092 human ensembl 74_37 -1 known silent c.984 p.R328 0.207 pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,pirsf_Cysteine_dSase_NifS,tigrfam_Cys_deSase pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase,pirsf_Cysteine_dSase_NifS,tigrfam_Cys_deSase - no_errors NFS1 HGNC ENSG00000244005 89 0 0 87 9 9.375 ROMO1 0 genome.wustl.edu 37 20 34288780 34288780 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 34288780 34288780 C T SNP ROMO1 ENST00000336695 human ensembl 74_37 +1 known silent c.192 p.G64 0.789 pfam_Romo1 pfam_Romo1 - no_errors ROMO1 HGNC ENSG00000125995 62 0 0 75 9 10.7143 PHF20 0 genome.wustl.edu 37 20 34526851 34526851 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 34526851 34526851 C T SNP PHF20 ENST00000374012 human ensembl 74_37 +1 known missense c.2533 p.R845C 1.000 NULL pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_C2H2 - no_errors PHF20 HGNC ENSG00000025293 42 0 0 39 7 15.2174 EPB41L1 0 genome.wustl.edu 37 20 34773105 34773105 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 34773105 34773105 G A SNP EPB41L1 ENST00000338074 human ensembl 74_37 +1 known silent c.633 p.T211 0.002 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB_dom,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L1 HGNC ENSG00000088367 42 0 0 42 9 17.6471 MROH8 0 genome.wustl.edu 37 20 35788560 35788560 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 35788560 35788560 C T SNP MROH8 ENST00000400441 human ensembl 74_37 -1 known missense c.668 p.R223H 0.033 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH8 HGNC ENSG00000101353 17 0 0 20 4 16.6667 ATRN 0 genome.wustl.edu 37 20 3584894 3584894 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 3584894 3584894 G A SNP ATRN ENST00000262919 human ensembl 74_37 +1 known nonsense c.3786 p.W1262* 1.000 NULL pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRN HGNC ENSG00000088812 72 0 0 61 13 17.5676 CTNNBL1 0 genome.wustl.edu 37 20 36500377 36500377 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 36500377 36500377 G A SNP CTNNBL1 ENST00000405275 human ensembl 74_37 +1 known missense c.1573 p.E525K 0.978 NULL pfam_CTNNBL1_N,superfamily_ARM-type_fold - no_errors CTNNBL1 HGNC ENSG00000132792 46 0 0 52 4 7.14286 TGM2 0 genome.wustl.edu 37 20 36779458 36779458 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 36779458 36779458 C T SNP TGM2 ENST00000361475 human ensembl 74_37 -1 known silent c.435 p.A145 0.930 superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM2 HGNC ENSG00000198959 110 1 0.900901 109 12 9.91736 SIGLEC1 0 genome.wustl.edu 37 20 3678463 3678463 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 3678463 3678463 C A SNP SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known missense c.2104 p.A702S 0.010 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC1 HGNC ENSG00000088827 36 0 0 40 10 20 SIGLEC1 0 genome.wustl.edu 37 20 3683963 3683963 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 3683963 3683963 G A SNP SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known missense c.1109 p.A370V 0.000 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC1 HGNC ENSG00000088827 55 0 0 66 5 7.04225 KIAA1755 0 genome.wustl.edu 37 20 36869866 36869866 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 36869866 36869866 G T SNP KIAA1755 ENST00000279024 human ensembl 74_37 -1 known missense c.667 p.P223T 0.001 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 63 0 0 53 26 32.9114 RALGAPB 0 genome.wustl.edu 37 20 37168459 37168459 + Missense_Mutation SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 37168459 37168459 T A SNP RALGAPB ENST00000262879 human ensembl 74_37 +1 known missense c.2420 p.I807N 1.000 NULL superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPB HGNC ENSG00000170471 68 0 0 98 6 5.76923 RALGAPB 0 genome.wustl.edu 37 20 37194098 37194098 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 37194098 37194098 T C SNP RALGAPB ENST00000262879 human ensembl 74_37 +1 known missense c.3794 p.V1265A 1.000 pfscan_Rap_GAP_dom superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPB HGNC ENSG00000170471 191 0 0 205 21 9.29204 SLC32A1 0 genome.wustl.edu 37 20 37353656 37353656 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 37353656 37353656 G A SNP SLC32A1 ENST00000217420 human ensembl 74_37 +1 known missense c.289 p.G97S 0.834 NULL pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 47 0 0 49 4 7.54717 SLC32A1 0 genome.wustl.edu 37 20 37356122 37356122 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 37356122 37356122 G A SNP SLC32A1 ENST00000217420 human ensembl 74_37 +1 known missense c.418 p.A140T 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 72 0 0 63 14 18.1818 SLC32A1 0 genome.wustl.edu 37 20 37356232 37356232 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 37356232 37356232 C T SNP SLC32A1 ENST00000217420 human ensembl 74_37 +1 known silent c.528 p.D176 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 42 0 0 48 6 11.1111 SLC32A1 0 genome.wustl.edu 37 20 37357187 37357187 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 37357187 37357187 G A SNP SLC32A1 ENST00000217420 human ensembl 74_37 +1 known missense c.1483 p.A495T 0.997 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 23 0 0 34 6 15 ACTR5 0 genome.wustl.edu 37 20 37380797 37380797 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 37380797 37380797 G A SNP ACTR5 ENST00000243903 human ensembl 74_37 +1 known missense c.629 p.R210H 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR5 HGNC ENSG00000101442 53 0 0 61 7 10.2941 PPP1R16B 0 genome.wustl.edu 37 20 37531340 37531340 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 37531340 37531340 C T SNP PPP1R16B ENST00000299824 human ensembl 74_37 +1 known missense c.601 p.R201W 1.000 superfamily_Ankyrin_rpt-contain_dom,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R16B HGNC ENSG00000101445 95 0 0 136 10 6.84932 DHX35 0 genome.wustl.edu 37 20 37634988 37634988 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 37634988 37634988 G A SNP DHX35 ENST00000252011 human ensembl 74_37 +1 known missense c.1211 p.R404H 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX35 HGNC ENSG00000101452 140 0 0 127 25 16.4474 DHX35 0 genome.wustl.edu 37 20 37653971 37653971 + Silent SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 37653971 37653971 C A SNP DHX35 ENST00000252011 human ensembl 74_37 +1 known silent c.1770 p.V590 1.000 pfam_DUF1605 pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX35 HGNC ENSG00000101452 319 0 0 202 203 50.1235 MAVS 0 genome.wustl.edu 37 20 3846580 3846580 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 3846580 3846580 T C SNP MAVS ENST00000428216 human ensembl 74_37 +1 known missense c.1409 p.V470A 0.011 NULL NULL - no_errors MAVS HGNC ENSG00000088888 51 0 0 46 8 14.8148 PLCG1 0 genome.wustl.edu 37 20 39798904 39798904 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 39798904 39798904 G A SNP PLCG1 ENST00000244007 human ensembl 74_37 +1 known missense c.2803 p.A935T 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl,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 43 0 0 40 14 25.9259 ZHX3 0 genome.wustl.edu 37 20 39831218 39831218 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 39831218 39831218 C T SNP ZHX3 ENST00000309060 human ensembl 74_37 -1 known missense c.2339 p.R780Q 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors ZHX3 HGNC ENSG00000174306 86 0 0 80 30 27.2727 LPIN3 0 genome.wustl.edu 37 20 39977798 39977798 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 39977798 39977798 G A SNP LPIN3 ENST00000373257 human ensembl 74_37 +1 known nonsense c.624 p.W208* 0.488 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN3 HGNC ENSG00000132793 99 0 0 71 20 21.978 CHD6 0 genome.wustl.edu 37 20 40050618 40050618 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 40050618 40050618 G A SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.4657 p.L1553F 1.000 NULL 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 51 0 0 52 18 25.7143 CHD6 0 genome.wustl.edu 37 20 40111989 40111989 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 40111989 40111989 G A SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.2428 p.R810C 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C 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 82 0 0 81 21 20.5882 PTPRT 0 genome.wustl.edu 37 20 40714491 40714491 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 40714491 40714491 G T SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.3906 p.F1302L 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 66 0 0 76 10 11.6279 RBCK1 0 genome.wustl.edu 37 20 409612 409612 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 409612 409612 C T SNP RBCK1 ENST00000356286 human ensembl 74_37 +1 known silent c.1326 p.G442 0.013 pfam_Znf_C6HC pfam_Znf_C6HC,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Znf_RING,pfscan_Znf_RanBP2,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup - no_errors RBCK1 HGNC ENSG00000125826 23 0 0 12 11 47.8261 PTPRT 0 genome.wustl.edu 37 20 41400120 41400120 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 41400120 41400120 G A SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known silent c.639 p.C213 1.000 pfscan_Ig-like_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 249 0 0 311 58 15.7182 SMOX 0 genome.wustl.edu 37 20 4155700 4155700 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 4155700 4155700 G A SNP SMOX ENST00000484515 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SMOX HGNC ENSG00000088826 118 0 0 125 20 13.7931 ADRA1D 0 genome.wustl.edu 37 20 4202178 4202178 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 4202178 4202178 C T SNP ADRA1D ENST00000379453 human ensembl 74_37 -1 known missense c.1711 p.D571N 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_ADRA1D_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,pfscan_GPCR_Rhodpsn_7TM - no_errors ADRA1D HGNC ENSG00000171873 33 0 0 49 11 18.3333 SRSF6 0 genome.wustl.edu 37 20 42088823 42088823 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 42088823 42088823 C A SNP SRSF6 ENST00000244020 human ensembl 74_37 +1 known missense c.532 p.L178I 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF6 HGNC ENSG00000124193 52 0 0 46 12 20.6897 MYBL2 0 genome.wustl.edu 37 20 42311438 42311438 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 42311438 42311438 G A SNP MYBL2 ENST00000217026 human ensembl 74_37 +1 known missense c.191 p.R64H 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL2 HGNC ENSG00000101057 323 1 0.308642 348 45 11.4504 MYBL2 0 genome.wustl.edu 37 20 42338670 42338670 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 42338670 42338670 G A SNP MYBL2 ENST00000217026 human ensembl 74_37 +1 known missense c.1573 p.A525T 1.000 pfam_C-myb_C pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL2 HGNC ENSG00000101057 228 0 0 251 39 13.4483 JPH2 0 genome.wustl.edu 37 20 42815111 42815111 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 42815111 42815111 G A SNP JPH2 ENST00000372980 human ensembl 74_37 -1 known missense c.235 p.R79C 1.000 smart_MORN,pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH2 HGNC ENSG00000149596 52 0 0 69 13 15.8537 HNF4A 0 genome.wustl.edu 37 20 43052918 43052918 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 43052918 43052918 C T SNP HNF4A ENST00000443598 human ensembl 74_37 +1 known missense c.1153 p.R385W 0.001 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_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_COUP_TF - no_errors HNF4A HGNC ENSG00000101076 26 0 0 16 5 23.8095 PABPC1L 0 genome.wustl.edu 37 20 43559194 43559194 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 43559194 43559194 C T SNP PABPC1L ENST00000217073 human ensembl 74_37 +1 known missense c.1066 p.R356C 0.996 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC1L HGNC ENSG00000101104 132 0 0 167 9 5.11364 STK4 0 genome.wustl.edu 37 20 43607098 43607098 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 43607098 43607098 T C SNP STK4 ENST00000372806 human ensembl 74_37 +1 known missense c.131 p.V44A 0.999 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Mst1_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STK4 HGNC ENSG00000101109 68 0 0 92 9 8.91089 RBPJL 0 genome.wustl.edu 37 20 43940918 43940918 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 43940918 43940918 C T SNP RBPJL ENST00000343694 human ensembl 74_37 +1 known missense c.502 p.R168W 1.000 pfam_LAG1_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJL HGNC ENSG00000124232 51 0 0 34 7 17.0732 ZNF335 0 genome.wustl.edu 37 20 44592274 44592274 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 44592274 44592274 C T SNP ZNF335 ENST00000322927 human ensembl 74_37 -1 known silent c.1371 p.S457 0.371 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF335 HGNC ENSG00000198026 158 0 0 193 16 7.6555 SLC12A5 0 genome.wustl.edu 37 20 44678261 44678261 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 44678261 44678261 G A SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known silent c.2082 p.R694 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 SLC12A5 HGNC ENSG00000124140 15 0 0 20 3 13.0435 SLC12A5 0 genome.wustl.edu 37 20 44680471 44680471 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 44680471 44680471 G A SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known missense c.2408 p.R803H 0.998 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 51 0 0 40 12 23.0769 SLC12A5 0 genome.wustl.edu 37 20 44685882 44685882 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 44685882 44685882 G A SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known missense c.3268 p.A1090T 0.998 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 105 0 0 122 16 11.5942 NCOA5 0 genome.wustl.edu 37 20 44698981 44698981 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 44698981 44698981 A G SNP NCOA5 ENST00000290231 human ensembl 74_37 -1 known missense c.233 p.V78A 0.995 NULL superfamily_Anticodon-bd - no_errors NCOA5 HGNC ENSG00000124160 164 0 0 177 18 9.23077 CDH22 0 genome.wustl.edu 37 20 44845612 44845612 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 44845612 44845612 G A SNP CDH22 ENST00000372262 human ensembl 74_37 -1 known missense c.691 p.P231S 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH22 HGNC ENSG00000149654 53 0 0 58 6 9.375 ELMO2 0 genome.wustl.edu 37 20 45003964 45003964 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 45003964 45003964 C T SNP ELMO2 ENST00000439931 human ensembl 74_37 -1 known missense c.1012 p.A338T 1.000 pfam_Engulfment_cell_motility_ELMO pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO2 HGNC ENSG00000062598 74 0 0 78 17 17.8947 SLC13A3 0 genome.wustl.edu 37 20 45212284 45212284 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 45212284 45212284 G A SNP SLC13A3 ENST00000435032 human ensembl 74_37 -1 known missense c.14 p.A5V 0.001 NULL pfam_Na/sul_symport - no_errors SLC13A3 HGNC ENSG00000158296 75 0 0 92 32 25.8065 EYA2 0 genome.wustl.edu 37 20 45702898 45702898 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 45702898 45702898 G A SNP EYA2 ENST00000327619 human ensembl 74_37 +1 known silent c.585 p.S195 0.612 NULL pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA2 HGNC ENSG00000064655 95 0 0 105 8 7.07965 NCOA3 0 genome.wustl.edu 37 20 46264165 46264165 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 46264165 46264165 G A SNP NCOA3 ENST00000371998 human ensembl 74_37 +1 known silent c.1212 p.S404 0.210 pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA3 HGNC ENSG00000124151 79 0 0 67 9 11.8421 PRNP 0 genome.wustl.edu 37 20 4680430 4680430 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 4680430 4680430 G A SNP PRNP ENST00000379440 human ensembl 74_37 +1 known silent c.564 p.T188 0.002 pfam_Prion/Doppel_prot_b-ribbon_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Prion_N_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion,prints_Prion - no_errors PRNP HGNC ENSG00000171867 90 0 0 99 23 18.8525 PRNT 0 genome.wustl.edu 37 20 4713073 4713073 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 4713073 4713073 C T SNP PRNT ENST00000326539 human ensembl 74_37 -1 known missense c.250 p.A84T 0.000 NULL NULL - no_errors PRNT HGNC ENSG00000180259 17 0 0 31 4 11.4286 PREX1 0 genome.wustl.edu 37 20 47247280 47247280 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 47247280 47247280 C T SNP PREX1 ENST00000371941 human ensembl 74_37 -1 known missense c.4579 p.V1527I 0.222 NULL pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,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 PREX1 HGNC ENSG00000124126 74 0 0 71 6 7.79221 PREX1 0 genome.wustl.edu 37 20 47364404 47364404 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 47364404 47364404 C T SNP PREX1 ENST00000371941 human ensembl 74_37 -1 known missense c.233 p.R78H 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,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 PREX1 HGNC ENSG00000124126 31 0 0 37 4 9.7561 ARFGEF2 0 genome.wustl.edu 37 20 47614883 47614883 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 47614883 47614883 C T SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known silent c.3273 p.V1091 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 85 0 0 97 14 12.6126 STAU1 0 genome.wustl.edu 37 20 47734608 47734608 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 47734608 47734608 C T SNP STAU1 ENST00000371856 human ensembl 74_37 -1 known missense c.1215 p.M405I 1.000 NULL pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors STAU1 HGNC ENSG00000124214 103 0 0 115 10 8 SLC9A8 0 genome.wustl.edu 37 20 48503391 48503391 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 48503391 48503391 G A SNP SLC9A8 ENST00000417961 human ensembl 74_37 +1 known missense c.1642 p.A548T 1.000 NULL pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A8 HGNC ENSG00000197818 57 0 0 61 7 10.2941 TMEM189 0 genome.wustl.edu 37 20 48741643 48741643 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 48741643 48741643 G A SNP TMEM189 ENST00000371652 human ensembl 74_37 -1 known silent c.765 p.G255 0.432 pfam_KuaUb-conj-enz_UEV1 pfam_KuaUb-conj-enz_UEV1 - no_errors TMEM189 HGNC ENSG00000240849 37 0 0 51 16 23.8806 PARD6B 0 genome.wustl.edu 37 20 49366779 49366779 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 49366779 49366779 C T SNP PARD6B ENST00000371610 human ensembl 74_37 +1 known silent c.873 p.S291 0.295 NULL pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ - no_errors PARD6B HGNC ENSG00000124171 160 0 0 204 16 7.27273 BCAS4 0 genome.wustl.edu 37 20 49446904 49446904 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 49446904 49446904 T C SNP BCAS4 ENST00000358791 human ensembl 74_37 +1 known missense c.341 p.V114A 0.994 NULL NULL - no_errors BCAS4 HGNC ENSG00000124243 70 0 0 97 15 13.3929 SALL4 0 genome.wustl.edu 37 20 50407173 50407173 + Silent SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 50407173 50407173 G T SNP SALL4 ENST00000217086 human ensembl 74_37 -1 known silent c.1849 p.R617 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 64 0 0 67 13 16.25 SALL4 0 genome.wustl.edu 37 20 50408447 50408447 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 50408447 50408447 G A SNP SALL4 ENST00000217086 human ensembl 74_37 -1 known missense c.575 p.A192V 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 113 0 0 115 31 21.2329 SALL4 0 genome.wustl.edu 37 20 50408840 50408840 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 50408840 50408840 G A SNP SALL4 ENST00000217086 human ensembl 74_37 -1 known missense c.182 p.A61V 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 68 0 0 93 7 7 ZFP64 0 genome.wustl.edu 37 20 50701279 50701279 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 50701279 50701279 G A SNP ZFP64 ENST00000361387 human ensembl 74_37 -1 known silent c.1755 p.C585 0.796 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 37 0 0 39 9 18.75 ZFP64 0 genome.wustl.edu 37 20 50781293 50781293 + Missense_Mutation SNP C C G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 50781293 50781293 C G SNP ZFP64 ENST00000216923 human ensembl 74_37 -1 known missense c.452 p.C151S 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 65 0 0 68 6 8.10811 ZNF217 0 genome.wustl.edu 37 20 52198090 52198090 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 52198090 52198090 C T SNP ZNF217 ENST00000302342 human ensembl 74_37 -1 known missense c.1276 p.A426T 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF217 HGNC ENSG00000171940 58 0 0 43 7 14 ZNF217 0 genome.wustl.edu 37 20 52198529 52198529 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 52198529 52198529 C T SNP ZNF217 ENST00000302342 human ensembl 74_37 -1 known silent c.837 p.T279 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF217 HGNC ENSG00000171940 137 0 0 138 11 7.38255 PROKR2 0 genome.wustl.edu 37 20 5283032 5283032 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 5283032 5283032 C T SNP PROKR2 ENST00000217270 human ensembl 74_37 -1 known missense c.809 p.R270H 1.000 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_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR2 HGNC ENSG00000101292 35 0 0 43 7 14 DOK5 0 genome.wustl.edu 37 20 53171481 53171481 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 53171481 53171481 C T SNP DOK5 ENST00000262593 human ensembl 74_37 +1 known nonsense c.76 p.R26* 0.819 pfam_Pleckstrin_homology,smart_Pleckstrin_homology pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK5 HGNC ENSG00000101134 67 0 0 66 7 9.58904 AURKA 0 genome.wustl.edu 37 20 54959346 54959346 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 54959346 54959346 C T SNP AURKA ENST00000312783 human ensembl 74_37 -1 known silent c.354 p.Q118 0.997 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 AURKA HGNC ENSG00000087586 71 0 0 75 5 6.25 PCK1 0 genome.wustl.edu 37 20 56138777 56138777 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 56138777 56138777 G A SNP PCK1 ENST00000319441 human ensembl 74_37 +1 known missense c.955 p.A319T 0.001 pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP - no_errors PCK1 HGNC ENSG00000124253 117 0 0 126 22 14.8649 NPEPL1 0 genome.wustl.edu 37 20 57276144 57276144 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 57276144 57276144 C T SNP NPEPL1 ENST00000356091 human ensembl 74_37 +1 known missense c.752 p.A251V 1.000 pfam_Peptidase_M17_C pfam_Peptidase_M17_C,prints_Leucine_aapep/pepB - no_errors NPEPL1 HGNC ENSG00000215440 15 0 0 11 3 21.4286 GNAS 0 genome.wustl.edu 37 20 57415849 57415849 + Missense_Mutation SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 57415849 57415849 T A SNP GNAS ENST00000313949 human ensembl 74_37 +1 known missense c.688 p.S230T 0.951 pfam_NESP55 pfam_NESP55 - no_errors GNAS HGNC ENSG00000087460 24 0 0 16 7 30.4348 GNAS 0 genome.wustl.edu 37 20 57485765 57485765 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 57485765 57485765 C T SNP GNAS ENST00000354359 human ensembl 74_37 +1 known missense c.1069 p.R357C 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 60 0 0 65 16 19.7531 NELFCD 0 genome.wustl.edu 37 20 57568154 57568154 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 57568154 57568154 C T SNP NELFCD ENST00000602795 human ensembl 74_37 +1 known missense c.1385 p.A462V 1.000 pfam_TH1 pfam_TH1 - no_errors NELFCD HGNC ENSG00000101158 52 0 0 75 8 9.63855 TUBB1 0 genome.wustl.edu 37 20 57599575 57599575 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 57599575 57599575 G A SNP TUBB1 ENST00000217133 human ensembl 74_37 +1 known missense c.1093 p.A365T 0.998 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin - no_errors TUBB1 HGNC ENSG00000101162 48 0 0 45 7 13.4615 ZNF831 0 genome.wustl.edu 37 20 57768478 57768478 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 57768478 57768478 G A SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.2404 p.A802T 0.347 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 25 0 0 30 5 14.2857 PHACTR3 0 genome.wustl.edu 37 20 58349436 58349436 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 58349436 58349436 C T SNP PHACTR3 ENST00000371015 human ensembl 74_37 +1 known silent c.1065 p.A355 0.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR3 HGNC ENSG00000087495 66 0 0 89 21 19.0909 SYCP2 0 genome.wustl.edu 37 20 58467173 58467173 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 58467173 58467173 A G SNP SYCP2 ENST00000357552 human ensembl 74_37 -1 known missense c.2236 p.S746P 0.983 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 81 0 0 86 17 16.5049 CDH26 0 genome.wustl.edu 37 20 58562546 58562546 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 58562546 58562546 C T SNP CDH26 ENST00000244047 human ensembl 74_37 +1 known silent c.876 p.G292 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 49 0 0 63 13 17.1053 CDH26 0 genome.wustl.edu 37 20 58564055 58564055 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 58564055 58564055 C T SNP CDH26 ENST00000244047 human ensembl 74_37 +1 known missense c.1120 p.P374S 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 54 0 0 67 8 10.6667 CDH4 0 genome.wustl.edu 37 20 60504690 60504690 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 60504690 60504690 C T SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known missense c.2029 p.R677C 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 67 0 0 78 5 6.0241 LSM14B 0 genome.wustl.edu 37 20 60699742 60699742 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 60699742 60699742 A G SNP LSM14B ENST00000253001 human ensembl 74_37 +1 known missense c.197 p.Y66C 1.000 superfamily_LSM_dom pfam_FDF_dom,superfamily_LSM_dom - no_errors LSM14B HGNC ENSG00000149657 64 0 0 54 17 23.9437 LSM14B 0 genome.wustl.edu 37 20 60704997 60704997 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 60704997 60704997 A G SNP LSM14B ENST00000279068 human ensembl 74_37 +1 known missense c.584 p.K195R 0.997 NULL pfam_FDF_dom,superfamily_LSM_dom - no_errors LSM14B HGNC ENSG00000149657 26 0 0 26 7 21.2121 PSMA7 0 genome.wustl.edu 37 20 60714232 60714232 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 60714232 60714232 G A SNP PSMA7 ENST00000370873 human ensembl 74_37 -1 known missense c.370 p.R124C 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA7 HGNC ENSG00000101182 80 0 0 88 17 16.1905 SLCO4A1 0 genome.wustl.edu 37 20 61297900 61297900 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 61297900 61297900 C T SNP SLCO4A1 ENST00000217159 human ensembl 74_37 +1 known missense c.1445 p.A482V 0.999 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 SLCO4A1 HGNC ENSG00000101187 101 0 0 91 15 14.1509 DIDO1 0 genome.wustl.edu 37 20 61538508 61538508 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 61538508 61538508 G A SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known silent c.1365 p.C455 0.002 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 182 1 0.546448 145 34 18.9944 SLC17A9 0 genome.wustl.edu 37 20 61593988 61593988 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 61593988 61593988 C T SNP SLC17A9 ENST00000370351 human ensembl 74_37 +1 known silent c.510 p.T170 0.438 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A9 HGNC ENSG00000101194 74 0 0 61 14 18.6667 YTHDF1 0 genome.wustl.edu 37 20 61833667 61833667 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 61833667 61833667 C T SNP YTHDF1 ENST00000370339 human ensembl 74_37 -1 known missense c.1625 p.R542H 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF1 HGNC ENSG00000149658 87 0 0 83 19 18.6275 CHRNA4 0 genome.wustl.edu 37 20 61981756 61981756 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 61981756 61981756 C T SNP CHRNA4 ENST00000370263 human ensembl 74_37 -1 known missense c.1007 p.R336H 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 CHRNA4 HGNC ENSG00000101204 87 0 0 89 17 16.0377 PTK6 0 genome.wustl.edu 37 20 62162144 62162144 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 62162144 62162144 G A SNP PTK6 ENST00000217185 human ensembl 74_37 -1 known silent c.969 p.N323 0.994 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_2,pfam_SH3_domain,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 PTK6 HGNC ENSG00000101213 58 0 0 55 11 16.6667 SRMS 0 genome.wustl.edu 37 20 62174716 62174716 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 62174716 62174716 G A SNP SRMS ENST00000217188 human ensembl 74_37 -1 known missense c.596 p.A199V 0.499 smart_SH2,pfscan_SH2,prints_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,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 - no_errors SRMS HGNC ENSG00000125508 52 0 0 58 10 14.7059 HELZ2 0 genome.wustl.edu 37 20 62198324 62198324 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 62198324 62198324 G A SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known missense c.2387 p.A796V 0.019 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 62 0 0 56 7 11.1111 RTEL1 0 genome.wustl.edu 37 20 62319289 62319289 + Splice_Site SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 62319289 62319289 G A SNP RTEL1 ENST00000318100 human ensembl 74_37 +1 known splice_site c.1482-1 e17-1 0.999 - - - no_errors RTEL1 HGNC ENSG00000258366 39 0 0 27 5 15.625 ZGPAT 0 genome.wustl.edu 37 20 62366007 62366007 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 62366007 62366007 G A SNP ZGPAT ENST00000328969 human ensembl 74_37 +1 known silent c.882 p.S294 0.000 NULL pfam_G_patch_dom,smart_Znf_CCCH,smart_G_patch_dom,pfscan_G_patch_dom - no_errors ZGPAT HGNC ENSG00000197114 104 0 0 111 10 8.26446 DNAJC5 0 genome.wustl.edu 37 20 62560765 62560765 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 62560765 62560765 G A SNP DNAJC5 ENST00000360864 human ensembl 74_37 +1 known missense c.208 p.A70T 1.000 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC5 HGNC ENSG00000101152 83 0 0 75 20 21.0526 DNAJC5 0 genome.wustl.edu 37 20 62560817 62560817 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 62560817 62560817 C T SNP DNAJC5 ENST00000360864 human ensembl 74_37 +1 known missense c.260 p.A87V 1.000 superfamily_DnaJ_domain,prints_DnaJ_domain pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC5 HGNC ENSG00000101152 70 0 0 65 16 19.7531 PRPF6 0 genome.wustl.edu 37 20 62657327 62657327 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 62657327 62657327 C T SNP PRPF6 ENST00000266079 human ensembl 74_37 +1 known silent c.1944 p.A648 0.580 smart_HAT pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRPF6 HGNC ENSG00000101161 217 0 0 237 39 14.1304 SOX18 0 genome.wustl.edu 37 20 62680254 62680254 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 62680254 62680254 C T SNP SOX18 ENST00000340356 human ensembl 74_37 -1 known silent c.420 p.R140 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_Sox_C_TAD,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX18 HGNC ENSG00000203883 16 0 0 6 4 40 SOX18 0 genome.wustl.edu 37 20 62680575 62680575 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 62680575 62680575 C T SNP SOX18 ENST00000340356 human ensembl 74_37 -1 known missense c.295 p.E99K 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_Sox_C_TAD,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX18 HGNC ENSG00000203883 36 0 0 35 4 10.2564 TCEA2 0 genome.wustl.edu 37 20 62703233 62703233 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 62703233 62703233 G A SNP TCEA2 ENST00000343484 human ensembl 74_37 +1 known missense c.830 p.R277H 1.000 pfam_Znf_TFIIS,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII pfam_TFIIS_cen_dom,pfam_TFIIS_N,pfam_Znf_TFIIS,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII - no_errors TCEA2 HGNC ENSG00000171703 40 0 0 34 9 20.9302 MYT1 0 genome.wustl.edu 37 20 62839458 62839458 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 62839458 62839458 G A SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known silent c.909 p.E303 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 77 0 0 53 14 20.8955 MYT1 0 genome.wustl.edu 37 20 62850293 62850293 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 62850293 62850293 G A SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known missense c.1957 p.A653T 1.000 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 42 0 0 48 14 22.5806 SLC52A3 0 genome.wustl.edu 37 20 745857 745857 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 745857 745857 C T SNP SLC52A3 ENST00000217254 human ensembl 74_37 -1 known missense c.562 p.A188T 0.005 NULL pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A3 HGNC ENSG00000101276 64 0 0 64 7 9.85915 PLCB1 0 genome.wustl.edu 37 20 8626776 8626776 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 8626776 8626776 G A SNP PLCB1 ENST00000338037 human ensembl 74_37 +1 known missense c.412 p.A138T 1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 49 0 0 75 4 5.06329 PLCB4 0 genome.wustl.edu 37 20 9360803 9360803 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 9360803 9360803 A G SNP PLCB4 ENST00000334005 human ensembl 74_37 +1 known missense c.847 p.K283E 1.000 pirsf_PLC-beta,pfam_PLipase_C_EF-hand-like pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB4 HGNC ENSG00000101333 50 0 0 65 5 7.14286 PLCB4 0 genome.wustl.edu 37 20 9404483 9404483 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 9404483 9404483 G A SNP PLCB4 ENST00000334005 human ensembl 74_37 +1 known missense c.2372 p.G791D 1.000 pirsf_PLC-beta,superfamily_C2_dom,smart_C2_dom,prints_Pinositol_PLipase_C pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB4 HGNC ENSG00000101333 48 0 0 55 5 8.33333 PAK7 0 genome.wustl.edu 37 20 9546783 9546783 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 9546783 9546783 C T SNP PAK7 ENST00000353224 human ensembl 74_37 -1 known silent c.1239 p.P413 0.990 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK7 HGNC ENSG00000101349 47 0 0 56 15 21.1268 TPTE 0 genome.wustl.edu 37 21 10934961 10934961 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 10934961 10934961 G T SNP TPTE ENST00000361285 human ensembl 74_37 -1 known missense c.832 p.H278N 0.996 pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 182 0 0 135 12 8.16327 BAGE2 0 genome.wustl.edu 37 21 11049593 11049593 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 11049593 11049593 G A SNP BAGE2 ENST00000470054 human ensembl 74_37 -1 known rna NULL NULL 0.992 - - - no_errors BAGE2 HGNC ENSG00000187172 291 0 0 212 13 5.77778 POTED 0 genome.wustl.edu 37 21 14982927 14982927 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 14982927 14982927 C T SNP POTED ENST00000299443 human ensembl 74_37 +1 known silent c.378 p.S126 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTED HGNC ENSG00000166351 125 0 0 66 9 12 LIPI 0 genome.wustl.edu 37 21 15561632 15561632 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 15561632 15561632 T C SNP LIPI ENST00000344577 human ensembl 74_37 -1 known missense c.218 p.N73S 0.082 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPI HGNC ENSG00000188992 112 0 0 53 6 10.1695 TMPRSS15 0 genome.wustl.edu 37 21 19713822 19713822 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 19713822 19713822 G A SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known missense c.1472 p.A491V 0.995 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom 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 123 0 0 49 28 36.3636 ADAMTS5 0 genome.wustl.edu 37 21 28296541 28296541 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 28296541 28296541 G A SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known missense c.2624 p.S875L 0.078 superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 67 0 0 26 13 33.3333 MAP3K7CL 0 genome.wustl.edu 37 21 30532270 30532270 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 30532270 30532270 G A SNP MAP3K7CL ENST00000341618 human ensembl 74_37 +1 known silent c.441 p.P147 0.082 NULL NULL - no_errors MAP3K7CL HGNC ENSG00000156265 128 0 0 92 9 8.91089 KRTAP24-1 0 genome.wustl.edu 37 21 31654991 31654991 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 31654991 31654991 T C SNP KRTAP24-1 ENST00000340345 human ensembl 74_37 -1 known missense c.260 p.D87G 0.019 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP24-1 HGNC ENSG00000188694 74 0 0 31 5 13.8889 KRTAP19-3 0 genome.wustl.edu 37 21 31864073 31864073 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 31864073 31864073 C T SNP KRTAP19-3 ENST00000334063 human ensembl 74_37 -1 known missense c.203 p.R68H 0.000 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP19-3 HGNC ENSG00000244025 212 0 0 94 49 34.2657 TIAM1 0 genome.wustl.edu 37 21 32526578 32526578 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 32526578 32526578 C T SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.3158 p.R1053H 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain 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 59 0 0 17 13 43.3333 URB1 0 genome.wustl.edu 37 21 33746004 33746004 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 33746004 33746004 C T SNP URB1 ENST00000382751 human ensembl 74_37 -1 known silent c.828 p.S276 0.006 pfam_Npa1_N pfam_Npa1_N,superfamily_ARM-type_fold - no_errors URB1 HGNC ENSG00000142207 16 0 0 4 5 55.5556 IFNAR1 0 genome.wustl.edu 37 21 34717641 34717641 + Missense_Mutation SNP A A C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 34717641 34717641 A C SNP IFNAR1 ENST00000270139 human ensembl 74_37 +1 known missense c.763 p.M255L 0.000 superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1 - no_errors IFNAR1 HGNC ENSG00000142166 75 0 0 45 4 8.16327 DOPEY2 0 genome.wustl.edu 37 21 37603096 37603096 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 37603096 37603096 G A SNP DOPEY2 ENST00000399151 human ensembl 74_37 +1 known missense c.2014 p.A672T 0.000 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 76 0 0 34 22 39.2857 TTC3 0 genome.wustl.edu 37 21 38510956 38510956 + Missense_Mutation SNP A A T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 38510956 38510956 A T SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known missense c.1601 p.N534I 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 140 0 0 86 8 8.51064 DYRK1A 0 genome.wustl.edu 37 21 38884778 38884778 + Nonsense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 38884778 38884778 G T SNP DYRK1A ENST00000398960 human ensembl 74_37 +1 known nonsense c.2236 p.E746* 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 DYRK1A HGNC ENSG00000157540 125 0 0 59 12 16.9014 ERG 0 genome.wustl.edu 37 21 39755694 39755694 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 39755694 39755694 T C SNP ERG ENST00000398919 human ensembl 74_37 -1 known silent c.1092 p.K364 0.970 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ERG HGNC ENSG00000157554 56 0 0 47 4 7.84314 CSTB 0 genome.wustl.edu 37 21 45194175 45194175 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 45194175 45194175 C T SNP CSTB ENST00000291568 human ensembl 74_37 -1 known missense c.205 p.V69M 0.092 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat,prints_Prot_inh_stefinA - no_errors CSTB HGNC ENSG00000160213 109 0 0 24 16 40 AGPAT3 0 genome.wustl.edu 37 21 45401010 45401010 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 45401010 45401010 C T SNP AGPAT3 ENST00000291572 human ensembl 74_37 +1 known silent c.984 p.G328 0.032 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT3 HGNC ENSG00000160216 70 0 0 29 5 14.7059 TRAPPC10 0 genome.wustl.edu 37 21 45479056 45479056 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 45479056 45479056 G A SNP TRAPPC10 ENST00000291574 human ensembl 74_37 +1 known missense c.751 p.A251T 1.000 NULL NULL - no_errors TRAPPC10 HGNC ENSG00000160218 36 0 0 21 14 40 PWP2 0 genome.wustl.edu 37 21 45534069 45534069 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 45534069 45534069 C T SNP PWP2 ENST00000291576 human ensembl 74_37 +1 known missense c.236 p.A79V 0.998 superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP2 HGNC ENSG00000241945 55 0 0 20 15 42.8571 PFKL 0 genome.wustl.edu 37 21 45738404 45738404 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 45738404 45738404 G A SNP PFKL ENST00000403390 human ensembl 74_37 +1 known missense c.1129 p.D377N 0.971 pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKL HGNC ENSG00000141959 25 0 0 18 4 18.1818 PFKL 0 genome.wustl.edu 37 21 45741708 45741708 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 45741708 45741708 C T SNP PFKL ENST00000403390 human ensembl 74_37 +1 known missense c.1429 p.H477Y 1.000 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKL HGNC ENSG00000141959 66 0 0 14 9 39.1304 PFKL 0 genome.wustl.edu 37 21 45743770 45743770 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 45743770 45743770 G A SNP PFKL ENST00000403390 human ensembl 74_37 +1 known missense c.1760 p.G587D 1.000 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKL HGNC ENSG00000141959 27 0 0 12 4 25 TRPM2 0 genome.wustl.edu 37 21 45786763 45786763 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 45786763 45786763 C T SNP TRPM2 ENST00000300482 human ensembl 74_37 +1 known missense c.550 p.P184S 0.788 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 30 0 0 20 3 13.0435 POFUT2 0 genome.wustl.edu 37 21 46687543 46687543 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 46687543 46687543 G A SNP POFUT2 ENST00000349485 human ensembl 74_37 -1 known silent c.1098 p.G366 0.501 pfam_GDP-Fuc_O-FucTrfase,superfamily_DUF749 pfam_GDP-Fuc_O-FucTrfase,superfamily_DUF749 - no_errors POFUT2 HGNC ENSG00000186866 180 1 0.552486 71 50 41.3223 POFUT2 0 genome.wustl.edu 37 21 46705800 46705800 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 46705800 46705800 G A SNP POFUT2 ENST00000349485 human ensembl 74_37 -1 known missense c.175 p.R59C 1.000 pfam_GDP-Fuc_O-FucTrfase pfam_GDP-Fuc_O-FucTrfase,superfamily_DUF749 - no_errors POFUT2 HGNC ENSG00000186866 107 0 0 48 7 12.7273 COL6A2 0 genome.wustl.edu 37 21 47545767 47545767 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 47545767 47545767 C T SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known missense c.2038 p.R680C 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 39 0 0 14 7 33.3333 MCM3AP 0 genome.wustl.edu 37 21 47665034 47665034 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 47665034 47665034 G A SNP MCM3AP ENST00000291688 human ensembl 74_37 -1 known silent c.4725 p.Y1575 0.097 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 60 0 0 29 5 14.7059 MCM3AP 0 genome.wustl.edu 37 21 47671503 47671503 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 47671503 47671503 C T SNP MCM3AP ENST00000291688 human ensembl 74_37 -1 known silent c.4230 p.S1410 0.000 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 59 0 0 45 5 10 PCNT 0 genome.wustl.edu 37 21 47832880 47832880 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 47832880 47832880 C T SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.6124 p.R2042C 0.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 50 0 0 22 10 31.25 DIP2A 0 genome.wustl.edu 37 21 47976004 47976004 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 47976004 47976004 G T SNP DIP2A ENST00000318711 human ensembl 74_37 +1 known missense c.3501 p.K1167N 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 158 0 0 68 27 28.4211 DIP2A 0 genome.wustl.edu 37 21 47978163 47978163 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 47978163 47978163 C T SNP DIP2A ENST00000318711 human ensembl 74_37 +1 known missense c.3829 p.R1277C 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 18 0 0 7 5 41.6667 DIP2A 0 genome.wustl.edu 37 21 47986475 47986475 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 47986475 47986475 C T SNP DIP2A ENST00000318711 human ensembl 74_37 +1 known missense c.4345 p.R1449W 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 63 0 0 25 14 35.8974 TPTEP1 0 genome.wustl.edu 37 22 17119563 17119563 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 17119563 17119563 C T SNP TPTEP1 ENST00000383140 human ensembl 74_37 +1 known rna NULL NULL 0.023 - - - no_errors TPTEP1 HGNC ENSG00000100181 94 0 0 58 25 30.1205 GAB4 0 genome.wustl.edu 37 22 17488874 17488874 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 17488874 17488874 C T SNP GAB4 ENST00000400588 human ensembl 74_37 -1 known missense c.131 p.G44D 0.747 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB4 HGNC ENSG00000215568 10 0 0 10 7 41.1765 IL17RA 0 genome.wustl.edu 37 22 17581248 17581248 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 17581248 17581248 C T SNP IL17RA ENST00000319363 human ensembl 74_37 +1 known missense c.427 p.R143C 0.724 NULL pfam_SEFIR - no_errors IL17RA HGNC ENSG00000177663 142 0 0 100 32 24.2424 CECR6 0 genome.wustl.edu 37 22 17600948 17600948 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 17600948 17600948 G A SNP CECR6 ENST00000331437 human ensembl 74_37 -1 known missense c.1070 p.A357V 1.000 NULL NULL - no_errors CECR6 HGNC ENSG00000183307 36 0 0 19 3 13.6364 ATP6V1E1 0 genome.wustl.edu 37 22 18095502 18095502 + RNA SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 18095502 18095502 T C SNP ATP6V1E1 ENST00000478963 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors ATP6V1E1 HGNC ENSG00000131100 30 0 0 16 4 20 BID 0 genome.wustl.edu 37 22 18220811 18220811 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 18220811 18220811 C T SNP BID ENST00000317361 human ensembl 74_37 -1 known missense c.686 p.R229H 0.002 pfam_BID pfam_BID - no_errors BID HGNC ENSG00000015475 79 0 0 72 5 6.49351 MICAL3 0 genome.wustl.edu 37 22 18368675 18368675 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 18368675 18368675 G A SNP MICAL3 ENST00000441493 human ensembl 74_37 -1 known missense c.2210 p.A737V 0.998 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 135 0 0 74 22 22.9167 TUBA8 0 genome.wustl.edu 37 22 18604435 18604435 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 18604435 18604435 G A SNP TUBA8 ENST00000330423 human ensembl 74_37 +1 known missense c.193 p.A65T 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA8 HGNC ENSG00000183785 39 0 0 26 13 33.3333 DGCR14 0 genome.wustl.edu 37 22 19127471 19127471 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 19127471 19127471 G A SNP DGCR14 ENST00000252137 human ensembl 74_37 -1 known missense c.467 p.T156M 1.000 pfam_Nuclear_protein_DGCR14 pfam_Nuclear_protein_DGCR14 - no_errors DGCR14 HGNC ENSG00000100056 154 0 0 100 30 23.0769 HIRA 0 genome.wustl.edu 37 22 19346867 19346867 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 19346867 19346867 C T SNP HIRA ENST00000263208 human ensembl 74_37 -1 known silent c.2226 p.A742 0.019 NULL pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors HIRA HGNC ENSG00000100084 49 0 0 26 10 27.7778 DGCR8 0 genome.wustl.edu 37 22 20073913 20073913 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 20073913 20073913 G A SNP DGCR8 ENST00000351989 human ensembl 74_37 +1 known missense c.427 p.D143N 0.017 NULL 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 72 0 0 44 4 8.33333 ZDHHC8 0 genome.wustl.edu 37 22 20128442 20128442 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 20128442 20128442 G A SNP ZDHHC8 ENST00000405930 human ensembl 74_37 +1 known silent c.801 p.P267 0.407 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC8 HGNC ENSG00000099904 46 0 0 28 12 30 ZNF74 0 genome.wustl.edu 37 22 20759892 20759892 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 20759892 20759892 G A SNP ZNF74 ENST00000356671 human ensembl 74_37 +1 known missense c.569 p.R190H 0.002 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 ZNF74 HGNC ENSG00000185252 15 0 0 12 6 33.3333 KLHL22 0 genome.wustl.edu 37 22 20838119 20838119 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 20838119 20838119 C T SNP KLHL22 ENST00000470335 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors KLHL22 HGNC ENSG00000099910 55 0 0 21 8 27.5862 PI4KA 0 genome.wustl.edu 37 22 21062348 21062348 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 21062348 21062348 T C SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known missense c.6296 p.D2099G 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 116 0 0 104 11 9.56522 SERPIND1 0 genome.wustl.edu 37 22 21134082 21134082 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 21134082 21134082 C T SNP SERPIND1 ENST00000215727 human ensembl 74_37 +1 known missense c.482 p.A161V 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPIND1 HGNC ENSG00000099937 107 0 0 74 28 27.451 TUBA3FP 0 genome.wustl.edu 37 22 21363384 21363384 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 21363384 21363384 G A SNP TUBA3FP ENST00000292748 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TUBA3FP HGNC ENSG00000161149 77 0 0 46 14 23.3333 SLC7A4 0 genome.wustl.edu 37 22 21385306 21385306 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 21385306 21385306 G A SNP SLC7A4 ENST00000382932 human ensembl 74_37 -1 known missense c.796 p.R266W 0.284 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A4 HGNC ENSG00000099960 33 0 0 15 9 37.5 HIC2 0 genome.wustl.edu 37 22 21799218 21799218 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 21799218 21799218 G A SNP HIC2 ENST00000407464 human ensembl 74_37 +1 known missense c.34 p.A12T 0.999 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC2 HGNC ENSG00000169635 37 0 0 29 5 14.7059 HIC2 0 genome.wustl.edu 37 22 21800560 21800560 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 21800560 21800560 C T SNP HIC2 ENST00000407464 human ensembl 74_37 +1 known missense c.1376 p.A459V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC2 HGNC ENSG00000169635 80 0 0 55 5 8.33333 TOP3B 0 genome.wustl.edu 37 22 22314750 22314750 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 22314750 22314750 G A SNP TOP3B ENST00000357179 human ensembl 74_37 -1 known missense c.1597 p.R533C 1.000 pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_DNA-bd pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3B HGNC ENSG00000100038 29 0 0 31 4 11.4286 BMS1P20 0 genome.wustl.edu 37 22 22664115 22664115 + RNA SNP A A T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 22664115 22664115 A T SNP BMS1P20 ENST00000426066 human ensembl 74_37 +1 known rna NULL NULL 0.991 - - - no_errors BMS1P20 HGNC ENSG00000236850 72 0 0 70 8 10.2564 IGLL1 0 genome.wustl.edu 37 22 23915549 23915549 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 23915549 23915549 C T SNP IGLL1 ENST00000330377 human ensembl 74_37 -1 known silent c.546 p.T182 0.005 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors IGLL1 HGNC ENSG00000128322 72 0 0 43 23 34.8485 C22orf43 0 genome.wustl.edu 37 22 23974150 23974150 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 23974150 23974150 C T SNP C22orf43 ENST00000317749 human ensembl 74_37 -1 known missense c.61 p.A21T 0.001 NULL NULL - no_errors C22orf43 HGNC ENSG00000189269 59 0 0 38 11 22.449 CABIN1 0 genome.wustl.edu 37 22 24567727 24567727 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 24567727 24567727 G A SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known missense c.5804 p.R1935Q 1.000 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 100 0 0 63 26 29.2135 SUSD2 0 genome.wustl.edu 37 22 24580172 24580172 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 24580172 24580172 G A SNP SUSD2 ENST00000358321 human ensembl 74_37 +1 known missense c.508 p.G170S 1.000 NULL pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Sushi_SCR_CCP,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD2 HGNC ENSG00000099994 69 0 0 61 13 17.5676 ADRBK2 0 genome.wustl.edu 37 22 26110386 26110386 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 26110386 26110386 C T SNP ADRBK2 ENST00000324198 human ensembl 74_37 +1 known silent c.1503 p.C501 0.998 superfamily_Kinase-like_dom,smart_AGC-kinase_C,prints_GPCR_kinase 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 79 0 0 60 17 22.0779 MYO18B 0 genome.wustl.edu 37 22 26157081 26157081 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 26157081 26157081 G A SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.22 p.A8T 1.000 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 81 0 0 62 13 17.3333 MYO18B 0 genome.wustl.edu 37 22 26173737 26173737 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 26173737 26173737 G A SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.2057 p.G686D 0.731 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 55 0 0 37 8 17.7778 MYO18B 0 genome.wustl.edu 37 22 26299648 26299648 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 26299648 26299648 G T SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.4998 p.Q1666H 0.911 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 20 0 0 10 4 28.5714 SEZ6L 0 genome.wustl.edu 37 22 26688919 26688919 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 26688919 26688919 A G SNP SEZ6L ENST00000248933 human ensembl 74_37 +1 known silent c.642 p.T214 0.067 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC ENSG00000100095 79 0 0 39 27 40.9091 ASPHD2 0 genome.wustl.edu 37 22 26839084 26839084 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 26839084 26839084 G A SNP ASPHD2 ENST00000215906 human ensembl 74_37 +1 known missense c.1022 p.R341Q 0.934 pfam_Asp_Arg_b-Hydrxlase pfam_Asp_Arg_b-Hydrxlase - no_errors ASPHD2 HGNC ENSG00000128203 233 0 0 147 44 23.0366 TFIP11 0 genome.wustl.edu 37 22 26890122 26890122 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 26890122 26890122 G A SNP TFIP11 ENST00000405938 human ensembl 74_37 -1 known missense c.2141 p.A714V 0.999 NULL pfam_GCFC_dom,pfam_TIP_N,pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors TFIP11 HGNC ENSG00000100109 73 0 0 54 21 28 TPST2 0 genome.wustl.edu 37 22 26937372 26937372 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 26937372 26937372 G A SNP TPST2 ENST00000338754 human ensembl 74_37 -1 known silent c.225 p.G75 0.964 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors TPST2 HGNC ENSG00000128294 24 0 0 22 8 26.6667 MN1 0 genome.wustl.edu 37 22 28194145 28194145 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 28194145 28194145 C T SNP MN1 ENST00000302326 human ensembl 74_37 -1 known missense c.2387 p.R796H 0.998 NULL NULL - no_errors MN1 HGNC ENSG00000169184 14 0 0 6 3 33.3333 MN1 0 genome.wustl.edu 37 22 28195159 28195159 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 28195159 28195159 C T SNP MN1 ENST00000302326 human ensembl 74_37 -1 known missense c.1373 p.R458H 1.000 NULL NULL - no_errors MN1 HGNC ENSG00000169184 17 0 0 11 3 21.4286 XBP1 0 genome.wustl.edu 37 22 29191491 29191491 + Missense_Mutation SNP A A C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 29191491 29191491 A C SNP XBP1 ENST00000344347 human ensembl 74_37 -1 known missense c.803 p.I268R 0.908 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors XBP1 HGNC ENSG00000100219 39 0 0 44 3 6.38298 CABP7 0 genome.wustl.edu 37 22 30125542 30125542 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 30125542 30125542 G A SNP CABP7 ENST00000216144 human ensembl 74_37 +1 known missense c.632 p.R211H 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CABP7 HGNC ENSG00000100314 43 0 0 24 7 22.5806 ASCC2 0 genome.wustl.edu 37 22 30221725 30221725 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 30221725 30221725 C T SNP ASCC2 ENST00000307790 human ensembl 74_37 -1 known silent c.126 p.P42 0.979 NULL pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE - no_errors ASCC2 HGNC ENSG00000100325 158 0 0 124 12 8.82353 SF3A1 0 genome.wustl.edu 37 22 30730631 30730631 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 30730631 30730631 G A SNP SF3A1 ENST00000215793 human ensembl 74_37 -1 known silent c.2334 p.G778 0.004 pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_PRP21-like,pfam_Surp,pfam_Ubiquitin_dom,superfamily_Surp,smart_Surp,smart_Ubiquitin_dom,pfscan_Surp,pfscan_Ubiquitin_supergroup - no_errors SF3A1 HGNC ENSG00000099995 120 0 0 63 18 22.2222 SF3A1 0 genome.wustl.edu 37 22 30734847 30734847 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 30734847 30734847 C T SNP SF3A1 ENST00000215793 human ensembl 74_37 -1 known silent c.1674 p.P558 0.002 NULL pfam_PRP21-like,pfam_Surp,pfam_Ubiquitin_dom,superfamily_Surp,smart_Surp,smart_Ubiquitin_dom,pfscan_Surp,pfscan_Ubiquitin_supergroup - no_errors SF3A1 HGNC ENSG00000099995 113 1 0.877193 78 9 10.3448 SMTN 0 genome.wustl.edu 37 22 31484712 31484712 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 31484712 31484712 C T SNP SMTN ENST00000347557 human ensembl 74_37 +1 known missense c.322 p.R108C 1.000 pfam_Smoothelin pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 15 0 0 11 6 35.2941 INPP5J 0 genome.wustl.edu 37 22 31523363 31523363 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 31523363 31523363 C T SNP INPP5J ENST00000331075 human ensembl 74_37 +1 known silent c.1632 p.S544 0.992 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5J HGNC ENSG00000185133 20 0 0 19 3 13.6364 PLA2G3 0 genome.wustl.edu 37 22 31533804 31533804 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 31533804 31533804 G A SNP PLA2G3 ENST00000215885 human ensembl 74_37 -1 known missense c.958 p.R320C 0.001 NULL pfam_PLipase_A2,superfamily_PLipase_A2_dom - no_errors PLA2G3 HGNC ENSG00000100078 126 1 0.787402 77 20 20.6186 EIF4ENIF1 0 genome.wustl.edu 37 22 31854475 31854475 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 31854475 31854475 G A SNP EIF4ENIF1 ENST00000330125 human ensembl 74_37 -1 known missense c.949 p.P317S 1.000 pfam_eIF4E_transporter pfam_eIF4E_transporter - no_errors EIF4ENIF1 HGNC ENSG00000184708 53 0 0 55 6 9.83607 SLC5A4 0 genome.wustl.edu 37 22 32650199 32650199 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 32650199 32650199 G A SNP SLC5A4 ENST00000266086 human ensembl 74_37 -1 known missense c.137 p.A46V 0.997 pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A4 HGNC ENSG00000100191 55 0 0 38 16 29.6296 MCM5 0 genome.wustl.edu 37 22 35802622 35802622 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 35802622 35802622 G A SNP MCM5 ENST00000216122 human ensembl 74_37 +1 known missense c.500 p.R167H 1.000 superfamily_NA-bd_OB-fold,smart_MCM_DNA-dep_ATPase,prints_MCM5 pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM5,prints_MCM_DNA-dep_ATPase - no_errors MCM5 HGNC ENSG00000100297 26 0 0 20 4 16.6667 RASD2 0 genome.wustl.edu 37 22 35947713 35947713 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 35947713 35947713 C T SNP RASD2 ENST00000216127 human ensembl 74_37 +1 known silent c.435 p.G145 0.247 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RASD2 HGNC ENSG00000100302 26 0 0 19 7 26.9231 APOL6 0 genome.wustl.edu 37 22 36055294 36055294 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 36055294 36055294 C T SNP APOL6 ENST00000409652 human ensembl 74_37 +1 known missense c.683 p.A228V 0.055 pfam_ApoL pfam_ApoL - no_errors APOL6 HGNC ENSG00000221963 92 0 0 78 7 8.23529 MYH9 0 genome.wustl.edu 37 22 36698665 36698665 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 36698665 36698665 G A SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known silent c.2448 p.C816 1.000 superfamily_P-loop_NTPase pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_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 47 0 0 39 11 22 TMPRSS6 0 genome.wustl.edu 37 22 37462911 37462911 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 37462911 37462911 G A SNP TMPRSS6 ENST00000381792 human ensembl 74_37 -1 known silent c.2271 p.R757 0.998 pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS6 HGNC ENSG00000187045 31 0 0 16 6 27.2727 TMPRSS6 0 genome.wustl.edu 37 22 37471264 37471264 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 37471264 37471264 G T SNP TMPRSS6 ENST00000381792 human ensembl 74_37 -1 known missense c.1253 p.T418K 0.006 pirsf_Pept_S1A_matriptase-2,superfamily_CUB_dom,pfscan_CUB_dom pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS6 HGNC ENSG00000187045 49 0 0 31 13 29.5455 TRIOBP 0 genome.wustl.edu 37 22 38119860 38119860 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 38119860 38119860 G A SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known missense c.1297 p.A433T 0.013 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 112 0 0 86 29 25.2174 DMC1 0 genome.wustl.edu 37 22 38934370 38934370 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 38934370 38934370 G A SNP DMC1 ENST00000216024 human ensembl 74_37 -1 known silent c.705 p.G235 0.855 pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,pfam_Circ_KaiC/RadA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,tigrfam_DMC1_rcmbase pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,pfam_Circ_KaiC/RadA,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,pfscan_RecA_monomer-monomer_interface,tigrfam_DMC1_rcmbase - no_errors DMC1 HGNC ENSG00000100206 56 0 0 45 13 22.4138 SUN2 0 genome.wustl.edu 37 22 39148607 39148607 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 39148607 39148607 C T SNP SUN2 ENST00000216064 human ensembl 74_37 -1 known silent c.27 p.T9 0.007 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN2 HGNC ENSG00000100242 18 0 0 16 8 33.3333 APOBEC3G 0 genome.wustl.edu 37 22 39482482 39482482 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 39482482 39482482 G A SNP APOBEC3G ENST00000407997 human ensembl 74_37 +1 known missense c.934 p.A312T 0.872 pfam_APOBEC_N,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3G HGNC ENSG00000239713 116 0 0 72 27 27.2727 TAB1 0 genome.wustl.edu 37 22 39811575 39811575 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 39811575 39811575 G T SNP TAB1 ENST00000216160 human ensembl 74_37 +1 known missense c.241 p.A81S 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors TAB1 HGNC ENSG00000100324 83 0 0 40 19 32.2034 MGAT3 0 genome.wustl.edu 37 22 39883366 39883366 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 39883366 39883366 G A SNP MGAT3 ENST00000341184 human ensembl 74_37 +1 known missense c.14 p.R5H 1.000 NULL pfam_Glyco_trans_17 - no_errors MGAT3 HGNC ENSG00000128268 170 0 0 117 9 7.14286 CACNA1I 0 genome.wustl.edu 37 22 40056386 40056386 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 40056386 40056386 G A SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known missense c.2660 p.S887N 1.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 36 0 0 30 16 34.7826 GRAP2 0 genome.wustl.edu 37 22 40365422 40365422 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 40365422 40365422 G T SNP GRAP2 ENST00000344138 human ensembl 74_37 +1 known missense c.698 p.R233L 0.908 NULL pfam_SH3_domain,pfam_SH2,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors GRAP2 HGNC ENSG00000100351 100 0 0 81 9 10 DNAJB7 0 genome.wustl.edu 37 22 41257568 41257568 + Missense_Mutation SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 41257568 41257568 T A SNP DNAJB7 ENST00000307221 human ensembl 74_37 -1 known missense c.431 p.Y144F 0.000 superfamily_ConA-like_lec_gl_sf pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_ConA-like_lec_gl_sf,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB7 HGNC ENSG00000172404 134 1 0.740741 109 6 5.21739 EP300 0 genome.wustl.edu 37 22 41489028 41489028 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 41489028 41489028 A G SNP EP300 ENST00000263253 human ensembl 74_37 +1 known missense c.20 p.E7G 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 108 0 0 73 6 7.59494 EP300 0 genome.wustl.edu 37 22 41574331 41574331 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 41574331 41574331 G T SNP EP300 ENST00000263253 human ensembl 74_37 +1 known missense c.6616 p.A2206S 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 58 0 0 39 10 20.4082 RANGAP1 0 genome.wustl.edu 37 22 41648913 41648913 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 41648913 41648913 C T SNP RANGAP1 ENST00000356244 human ensembl 74_37 -1 known missense c.1343 p.R448H 0.967 pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C 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 23 0 0 20 8 28.5714 RANGAP1 0 genome.wustl.edu 37 22 41676993 41676993 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 41676993 41676993 G A SNP RANGAP1 ENST00000356244 human ensembl 74_37 -1 known missense c.56 p.A19V 0.640 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 60 0 0 39 18 31.5789 PHF5A 0 genome.wustl.edu 37 22 41863526 41863526 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 41863526 41863526 G A SNP PHF5A ENST00000216252 human ensembl 74_37 -1 known missense c.169 p.R57C 1.000 pfam_PHF5,pirsf_PHF5 pfam_PHF5,pirsf_PHF5 - no_errors PHF5A HGNC ENSG00000100410 62 0 0 52 9 14.7541 CYP2D6 0 genome.wustl.edu 37 22 42523459 42523459 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 42523459 42523459 C T SNP CYP2D6 ENST00000360608 human ensembl 74_37 -1 known missense c.1163 p.R388H 0.983 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2D6 HGNC ENSG00000100197 24 0 0 27 3 10 TCF20 0 genome.wustl.edu 37 22 42609903 42609903 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 42609903 42609903 A G SNP TCF20 ENST00000359486 human ensembl 74_37 -1 known missense c.1409 p.V470A 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 175 0 0 102 30 22.7273 TCF20 0 genome.wustl.edu 37 22 42610103 42610103 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 42610103 42610103 C T SNP TCF20 ENST00000359486 human ensembl 74_37 -1 known silent c.1209 p.V403 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 132 0 0 75 24 24.2424 PACSIN2 0 genome.wustl.edu 37 22 43267373 43267373 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 43267373 43267373 G A SNP PACSIN2 ENST00000263246 human ensembl 74_37 -1 known missense c.1451 p.A484V 0.953 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PACSIN2 HGNC ENSG00000100266 40 0 0 38 8 17.3913 TTLL1 0 genome.wustl.edu 37 22 43442572 43442572 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 43442572 43442572 G A SNP TTLL1 ENST00000266254 human ensembl 74_37 -1 known missense c.986 p.A329V 0.996 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL1 HGNC ENSG00000100271 86 0 0 86 5 5.49451 PARVB 0 genome.wustl.edu 37 22 44543773 44543773 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 44543773 44543773 G A SNP PARVB ENST00000406477 human ensembl 74_37 +1 known missense c.844 p.A282T 1.000 superfamily_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors PARVB HGNC ENSG00000188677 45 0 0 23 7 23.3333 FAM118A 0 genome.wustl.edu 37 22 45726536 45726536 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 45726536 45726536 G A SNP FAM118A ENST00000216214 human ensembl 74_37 +1 known missense c.575 p.G192D 1.000 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom - no_errors FAM118A HGNC ENSG00000100376 60 0 0 38 13 25.4902 FBLN1 0 genome.wustl.edu 37 22 45938087 45938087 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 45938087 45938087 C T SNP FBLN1 ENST00000327858 human ensembl 74_37 +1 known silent c.1119 p.C373 0.001 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Fibulin-1,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,smart_Anaphylatoxin/fibulin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN1 HGNC ENSG00000077942 113 0 0 46 27 36.9863 PPARA 0 genome.wustl.edu 37 22 46627780 46627780 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 46627780 46627780 C T SNP PPARA ENST00000262735 human ensembl 74_37 +1 known missense c.803 p.A268V 0.995 superfamily_Nucl_hormone_rcpt_ligand-bd 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_1Cnucl_rcpt_A,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors PPARA HGNC ENSG00000186951 31 0 0 25 9 26.4706 PKDREJ 0 genome.wustl.edu 37 22 46655302 46655302 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 46655302 46655302 C T SNP PKDREJ ENST00000253255 human ensembl 74_37 -1 known silent c.3918 p.S1306 0.000 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom 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 123 0 0 77 34 30.6306 PKDREJ 0 genome.wustl.edu 37 22 46658466 46658466 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 46658466 46658466 C T SNP PKDREJ ENST00000253255 human ensembl 74_37 -1 known missense c.754 p.A252T 0.000 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 28 0 0 12 8 40 GTSE1 0 genome.wustl.edu 37 22 46712231 46712231 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 46712231 46712231 C T SNP GTSE1 ENST00000454366 human ensembl 74_37 +1 known nonsense c.1354 p.R452* 0.063 NULL NULL - no_errors GTSE1 HGNC ENSG00000075218 198 0 0 181 14 7.17949 GRAMD4 0 genome.wustl.edu 37 22 47070572 47070572 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 47070572 47070572 G A SNP GRAMD4 ENST00000361034 human ensembl 74_37 +1 known missense c.1403 p.R468H 1.000 pfam_GRAM,smart_GRAM pfam_GRAM,smart_GRAM - no_errors GRAMD4 HGNC ENSG00000075240 33 0 0 37 6 13.9535 GRAMD4 0 genome.wustl.edu 37 22 47070595 47070595 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 47070595 47070595 C T SNP GRAMD4 ENST00000361034 human ensembl 74_37 +1 known missense c.1426 p.R476W 1.000 pfam_GRAM,smart_GRAM pfam_GRAM,smart_GRAM - no_errors GRAMD4 HGNC ENSG00000075240 46 0 0 40 10 20 TBC1D22A 0 genome.wustl.edu 37 22 47290699 47290699 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 47290699 47290699 G A SNP TBC1D22A ENST00000337137 human ensembl 74_37 +1 known missense c.857 p.R286H 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22A HGNC ENSG00000054611 94 0 0 86 8 8.51064 FAM19A5 0 genome.wustl.edu 37 22 49103572 49103572 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 49103572 49103572 T C SNP FAM19A5 ENST00000358295 human ensembl 74_37 +1 known silent c.285 p.C95 0.936 pfam_Chemokine-like_FAM19A2 pfam_Chemokine-like_FAM19A2 - no_errors FAM19A5 HGNC ENSG00000219438 60 0 0 30 7 18.9189 ZBED4 0 genome.wustl.edu 37 22 50277562 50277562 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 50277562 50277562 C T SNP ZBED4 ENST00000216268 human ensembl 74_37 +1 known silent c.252 p.G84 0.000 NULL pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED4 HGNC ENSG00000100426 97 0 0 46 22 32.3529 TTLL8 0 genome.wustl.edu 37 22 50470406 50470406 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 50470406 50470406 G A SNP TTLL8 ENST00000266182 human ensembl 74_37 -1 known silent c.1416 p.G472 0.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL8 HGNC ENSG00000138892 20 0 0 15 4 21.0526 TRABD 0 genome.wustl.edu 37 22 50636522 50636522 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 50636522 50636522 T C SNP TRABD ENST00000303434 human ensembl 74_37 +1 known missense c.863 p.V288A 0.991 pfam_Pheromone_shutdown_TraB pfam_Pheromone_shutdown_TraB - no_errors TRABD HGNC ENSG00000170638 15 0 0 9 5 35.7143 PLXNB2 0 genome.wustl.edu 37 22 50728515 50728515 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 50728515 50728515 C T SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known missense c.499 p.V167M 0.667 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,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 PLXNB2 HGNC ENSG00000196576 54 0 0 26 11 29.7297 FANCD2 0 genome.wustl.edu 37 3 10084330 10084330 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 10084330 10084330 G A SNP FANCD2 ENST00000287647 human ensembl 74_37 +1 known missense c.871 p.A291T 0.040 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FANCD2 HGNC ENSG00000144554 150 0 0 105 24 18.6047 NXPE3 0 genome.wustl.edu 37 3 101520245 101520245 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 101520245 101520245 G A SNP NXPE3 ENST00000273347 human ensembl 74_37 +1 known missense c.260 p.R87Q 0.888 pfam_NXPH/NXPE pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE3 HGNC ENSG00000144815 90 0 0 56 22 28.2051 ALCAM 0 genome.wustl.edu 37 3 105243139 105243139 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 105243139 105243139 C T SNP ALCAM ENST00000306107 human ensembl 74_37 +1 known missense c.181 p.P61S 0.616 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ALCAM HGNC ENSG00000170017 45 0 0 32 11 25.5814 CBLB 0 genome.wustl.edu 37 3 105400357 105400357 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 105400357 105400357 C T SNP CBLB ENST00000264122 human ensembl 74_37 -1 known silent c.2394 p.T798 1.000 NULL pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBLB HGNC ENSG00000114423 90 0 0 66 7 9.58904 CBLB 0 genome.wustl.edu 37 3 105404299 105404299 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 105404299 105404299 G T SNP CBLB ENST00000264122 human ensembl 74_37 -1 known missense c.2066 p.P689Q 1.000 NULL pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBLB HGNC ENSG00000114423 59 0 0 43 6 12.2449 HHLA2 0 genome.wustl.edu 37 3 108076864 108076864 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 108076864 108076864 C T SNP HHLA2 ENST00000357759 human ensembl 74_37 +1 known nonsense c.859 p.R287* 0.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors HHLA2 HGNC ENSG00000114455 221 0 0 153 39 20.3125 KIAA1524 0 genome.wustl.edu 37 3 108276166 108276166 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 108276166 108276166 C T SNP KIAA1524 ENST00000295746 human ensembl 74_37 -1 known silent c.2109 p.A703 0.984 NULL superfamily_ARM-type_fold - no_errors KIAA1524 HGNC ENSG00000163507 83 0 0 65 7 9.72222 DPPA2 0 genome.wustl.edu 37 3 109023460 109023460 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 109023460 109023460 A G SNP DPPA2 ENST00000478945 human ensembl 74_37 -1 known missense c.716 p.V239A 0.989 NULL pfscan_SAP_dom - no_errors DPPA2 HGNC ENSG00000163530 90 0 0 67 26 27.957 SLC6A1 0 genome.wustl.edu 37 3 11067198 11067198 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 11067198 11067198 A G SNP SLC6A1 ENST00000287766 human ensembl 74_37 +1 known missense c.778 p.T260A 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT1,pfscan_Na/ntran_symport - no_errors SLC6A1 HGNC ENSG00000157103 48 0 0 32 7 17.9487 PHLDB2 0 genome.wustl.edu 37 3 111632332 111632332 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 111632332 111632332 G A SNP PHLDB2 ENST00000393925 human ensembl 74_37 +1 known missense c.1502 p.S501N 0.020 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 130 0 0 97 27 21.7742 C3orf52 0 genome.wustl.edu 37 3 111828413 111828413 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 111828413 111828413 G A SNP C3orf52 ENST00000264848 human ensembl 74_37 +1 known silent c.420 p.S140 0.053 NULL NULL - no_errors C3orf52 HGNC ENSG00000114529 29 0 0 20 11 35.4839 CCDC80 0 genome.wustl.edu 37 3 112337891 112337891 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 112337891 112337891 C A SNP CCDC80 ENST00000206423 human ensembl 74_37 -1 known missense c.2096 p.S699I 0.900 NULL NULL - no_errors CCDC80 HGNC ENSG00000091986 72 0 0 57 4 6.55738 BOC 0 genome.wustl.edu 37 3 113005615 113005615 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 113005615 113005615 C T SNP BOC ENST00000273395 human ensembl 74_37 +1 known missense c.3254 p.P1085L 0.972 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors BOC HGNC ENSG00000144857 148 0 0 129 13 9.15493 WDR52 0 genome.wustl.edu 37 3 113146042 113146042 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 113146042 113146042 C T SNP WDR52 ENST00000393845 human ensembl 74_37 -1 known missense c.245 p.S82N 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR52 HGNC ENSG00000206530 117 0 0 80 32 28.5714 KIAA2018 0 genome.wustl.edu 37 3 113377816 113377816 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 113377816 113377816 C T SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known missense c.2713 p.A905T 0.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 177 0 0 150 9 5.66038 ATP6V1A 0 genome.wustl.edu 37 3 113503074 113503074 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 113503074 113503074 G A SNP ATP6V1A ENST00000273398 human ensembl 74_37 +1 known missense c.215 p.G72D 1.000 pfam_ATPase_F1_a/bsu_N,superfamily_ATPase_F1_a/bsu_N,tigrfam_ATPase_V1-cplx_asu 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/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1_a/bsu_N,tigrfam_ATPase_V1-cplx_asu - no_errors ATP6V1A HGNC ENSG00000114573 90 0 0 65 16 19.7531 ZDHHC23 0 genome.wustl.edu 37 3 113673204 113673204 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 113673204 113673204 G A SNP ZDHHC23 ENST00000478793 human ensembl 74_37 +1 known nonsense c.819 p.W273* 1.000 pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC23 HGNC ENSG00000184307 27 0 0 20 5 20 ATG7 0 genome.wustl.edu 37 3 11372822 11372822 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 11372822 11372822 T C SNP ATG7 ENST00000354449 human ensembl 74_37 +1 known silent c.687 p.I229 0.991 tigrfam_Atg7 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_Atg7 - no_errors ATG7 HGNC ENSG00000197548 165 0 0 127 48 27.4286 DRD3 0 genome.wustl.edu 37 3 113850099 113850099 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 113850099 113850099 G A SNP DRD3 ENST00000383673 human ensembl 74_37 -1 known missense c.872 p.A291V 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D3_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D3_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD3 HGNC ENSG00000151577 178 0 0 134 32 19.2771 ZNF80 0 genome.wustl.edu 37 3 113955754 113955754 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 113955754 113955754 G A SNP ZNF80 ENST00000308095 human ensembl 74_37 -1 known silent c.168 p.S56 0.158 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF80 HGNC ENSG00000174255 54 0 0 49 4 7.54717 VGLL4 0 genome.wustl.edu 37 3 11606426 11606426 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 11606426 11606426 C T SNP VGLL4 ENST00000430365 human ensembl 74_37 -1 known missense c.340 p.A114T 0.830 NULL smart_TDU_repeat - no_errors VGLL4 HGNC ENSG00000144560 10 0 0 10 7 41.1765 VGLL4 0 genome.wustl.edu 37 3 11643341 11643341 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 11643341 11643341 C T SNP VGLL4 ENST00000430365 human ensembl 74_37 -1 known missense c.238 p.V80I 1.000 NULL smart_TDU_repeat - no_errors VGLL4 HGNC ENSG00000144560 158 0 0 93 25 21.1864 B4GALT4 0 genome.wustl.edu 37 3 118937520 118937520 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 118937520 118937520 G A SNP B4GALT4 ENST00000359213 human ensembl 74_37 -1 known silent c.774 p.G258 0.999 pfam_Galactosyl_T_C,prints_Galactosyl_T pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT4 HGNC ENSG00000121578 137 0 0 105 7 6.25 ARHGAP31 0 genome.wustl.edu 37 3 119121090 119121090 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 119121090 119121090 C T SNP ARHGAP31 ENST00000264245 human ensembl 74_37 +1 known silent c.1491 p.R497 0.007 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 80 0 0 67 24 26.3736 TIMMDC1 0 genome.wustl.edu 37 3 119217590 119217590 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 119217590 119217590 C T SNP TIMMDC1 ENST00000494664 human ensembl 74_37 +1 known missense c.10 p.P4S 0.994 NULL pfam_Tim17/Tim22/Tim23/PMP24 - no_errors TIMMDC1 HGNC ENSG00000113845 109 0 0 75 5 6.25 POPDC2 0 genome.wustl.edu 37 3 119379244 119379244 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 119379244 119379244 G A SNP POPDC2 ENST00000341124 human ensembl 74_37 -1 known silent c.27 p.G9 1.000 NULL pfam_Popeye_prot,superfamily_cNMP-bd-like - no_errors POPDC2 HGNC ENSG00000121577 37 0 0 35 4 10.2564 MAATS1 0 genome.wustl.edu 37 3 119434422 119434422 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 119434422 119434422 A G SNP MAATS1 ENST00000273390 human ensembl 74_37 +1 known missense c.514 p.T172A 0.000 NULL superfamily_S-AdoMet_deCO2ase_core - no_errors MAATS1 HGNC ENSG00000183833 194 0 0 131 50 27.6243 STXBP5L 0 genome.wustl.edu 37 3 120957879 120957879 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 120957879 120957879 G A SNP STXBP5L ENST00000273666 human ensembl 74_37 +1 known missense c.1246 p.A416T 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5L HGNC ENSG00000145087 56 0 0 51 4 7.27273 POLQ 0 genome.wustl.edu 37 3 121228903 121228903 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 121228903 121228903 G A SNP POLQ ENST00000264233 human ensembl 74_37 -1 known missense c.1799 p.A600V 0.015 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 125 0 0 109 9 7.62712 GOLGB1 0 genome.wustl.edu 37 3 121414107 121414107 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 121414107 121414107 C T SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known missense c.5248 p.D1750N 0.000 smart_Leu_zip_homeo superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 124 0 0 104 10 8.77193 GOLGB1 0 genome.wustl.edu 37 3 121417211 121417211 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 121417211 121417211 G A SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known missense c.2144 p.A715V 0.574 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 84 0 0 45 18 28.5714 CASR 0 genome.wustl.edu 37 3 122002869 122002869 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 122002869 122002869 C T SNP CASR ENST00000498619 human ensembl 74_37 +1 known missense c.2098 p.L700F 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,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 64 0 0 48 12 20 SEMA5B 0 genome.wustl.edu 37 3 122632510 122632510 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 122632510 122632510 C T SNP SEMA5B ENST00000451055 human ensembl 74_37 -1 known silent c.2313 p.T771 0.947 pfam_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 21 0 0 6 3 33.3333 MYLK 0 genome.wustl.edu 37 3 123471267 123471267 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 123471267 123471267 G A SNP MYLK ENST00000360304 human ensembl 74_37 -1 known missense c.284 p.A95V 0.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors MYLK HGNC ENSG00000065534 70 0 0 52 5 8.77193 CCDC14 0 genome.wustl.edu 37 3 123633803 123633803 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 123633803 123633803 G A SNP CCDC14 ENST00000488653 human ensembl 74_37 -1 known silent c.2685 p.G895 0.072 NULL NULL - no_errors CCDC14 HGNC ENSG00000175455 80 0 0 81 7 7.95455 OSBPL11 0 genome.wustl.edu 37 3 125271044 125271044 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 125271044 125271044 G A SNP OSBPL11 ENST00000296220 human ensembl 74_37 -1 known silent c.1635 p.G545 0.247 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL11 HGNC ENSG00000144909 105 0 0 76 21 21.6495 TSEN2 0 genome.wustl.edu 37 3 12544798 12544798 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 12544798 12544798 C T SNP TSEN2 ENST00000284995 human ensembl 74_37 +1 known missense c.346 p.R116C 0.043 pirsf_tRNA_splic_SEN2 pfam_tRNA_intron_Endonuc_cat-like,pfam_tRNA_intron_Endonuc_N,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN2 - no_errors TSEN2 HGNC ENSG00000154743 97 0 0 62 18 22.5 TSEN2 0 genome.wustl.edu 37 3 12570415 12570415 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 12570415 12570415 C T SNP TSEN2 ENST00000284995 human ensembl 74_37 +1 known silent c.1128 p.Y376 1.000 pfam_tRNA_intron_Endonuc_cat-like,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN2 pfam_tRNA_intron_Endonuc_cat-like,pfam_tRNA_intron_Endonuc_N,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN2 - no_errors TSEN2 HGNC ENSG00000154743 109 0 0 80 9 10.1124 CCDC37 0 genome.wustl.edu 37 3 126153218 126153218 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 126153218 126153218 G A SNP CCDC37 ENST00000393425 human ensembl 74_37 +1 known missense c.1625 p.R542H 0.477 NULL superfamily_SuperAg_toxin_C - no_errors CCDC37 HGNC ENSG00000163885 33 0 0 15 4 21.0526 RAF1 0 genome.wustl.edu 37 3 12647737 12647737 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 12647737 12647737 G A SNP RAF1 ENST00000442415 human ensembl 74_37 -1 known missense c.643 p.R215C 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors RAF1 HGNC ENSG00000132155 76 0 0 45 22 32.8358 PLXNA1 0 genome.wustl.edu 37 3 126708525 126708525 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 126708525 126708525 G A SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known silent c.1089 p.R363 0.888 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 114 0 0 72 6 7.69231 PLXNA1 0 genome.wustl.edu 37 3 126733356 126733356 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 126733356 126733356 G A SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known silent c.2640 p.T880 0.177 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 17 0 0 13 4 23.5294 PLXNA1 0 genome.wustl.edu 37 3 126733466 126733466 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 126733466 126733466 C T SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known missense c.2750 p.A917V 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 33 0 0 25 6 19.3548 PLXNA1 0 genome.wustl.edu 37 3 126733645 126733645 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 126733645 126733645 G A SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known missense c.2848 p.A950T 0.992 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 26 0 0 13 9 40.9091 MCM2 0 genome.wustl.edu 37 3 127323952 127323952 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 127323952 127323952 G A SNP MCM2 ENST00000265056 human ensembl 74_37 +1 known missense c.626 p.S209N 1.000 superfamily_NA-bd_OB-fold pfam_MCM_DNA-dep_ATPase,pfam_MCM2,pfam_Mg_chelatse_chII,pfam_ATPase_AAA-3,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM2,prints_MCM_DNA-dep_ATPase - no_errors MCM2 HGNC ENSG00000073111 118 0 0 96 8 7.69231 MCM2 0 genome.wustl.edu 37 3 127340010 127340010 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 127340010 127340010 G A SNP MCM2 ENST00000265056 human ensembl 74_37 +1 known missense c.2543 p.R848H 1.000 NULL pfam_MCM_DNA-dep_ATPase,pfam_MCM2,pfam_Mg_chelatse_chII,pfam_ATPase_AAA-3,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM2,prints_MCM_DNA-dep_ATPase - no_errors MCM2 HGNC ENSG00000073111 58 0 0 43 19 30.6452 ABTB1 0 genome.wustl.edu 37 3 127396374 127396374 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 127396374 127396374 C T SNP ABTB1 ENST00000232744 human ensembl 74_37 +1 known nonsense c.829 p.R277* 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB1 HGNC ENSG00000114626 58 0 0 35 12 25.5319 COPG1 0 genome.wustl.edu 37 3 128990627 128990627 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 128990627 128990627 C T SNP COPG1 ENST00000314797 human ensembl 74_37 +1 known missense c.1861 p.P621S 1.000 pfam_Coatomer_gsu_app_Ig-like-sub,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_Coatomer_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app_Ig-like-sub,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu - no_errors COPG1 HGNC ENSG00000181789 45 0 0 33 13 28.2609 HMCES 0 genome.wustl.edu 37 3 129009635 129009635 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 129009635 129009635 C T SNP HMCES ENST00000383463 human ensembl 74_37 +1 known silent c.441 p.I147 0.986 pfam_DUF159,superfamily_DUF159 pfam_DUF159,superfamily_DUF159 - no_errors HMCES HGNC ENSG00000183624 90 0 0 108 10 8.47458 IFT122 0 genome.wustl.edu 37 3 129238561 129238561 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 129238561 129238561 C A SNP IFT122 ENST00000296266 human ensembl 74_37 +1 known missense c.3775 p.P1259T 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT122 HGNC ENSG00000163913 103 0 0 77 31 28.7037 ATP2C1 0 genome.wustl.edu 37 3 130716497 130716497 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 130716497 130716497 G A SNP ATP2C1 ENST00000393221 human ensembl 74_37 +1 known missense c.2393 p.R798H 1.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMR1 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 128 0 0 83 28 25.2252 DNAJC13 0 genome.wustl.edu 37 3 132207227 132207227 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 132207227 132207227 G A SNP DNAJC13 ENST00000260818 human ensembl 74_37 +1 known missense c.3353 p.R1118H 1.000 superfamily_ARM-type_fold pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC13 HGNC ENSG00000138246 72 0 0 77 5 6.09756 NPHP3 0 genome.wustl.edu 37 3 132407734 132407734 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 132407734 132407734 G A SNP NPHP3 ENST00000337331 human ensembl 74_37 -1 known missense c.2885 p.A962V 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom 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 61 0 0 43 9 17.3077 BFSP2 0 genome.wustl.edu 37 3 133194042 133194042 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 133194042 133194042 C T SNP BFSP2 ENST00000510039 human ensembl 74_37 +1 known rna NULL NULL 0.299 - - - no_errors BFSP2 HGNC ENSG00000170819 8 0 0 4 3 42.8571 TOPBP1 0 genome.wustl.edu 37 3 133347516 133347516 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 133347516 133347516 G A SNP TOPBP1 ENST00000260810 human ensembl 74_37 -1 known missense c.2582 p.T861M 1.000 superfamily_Secretoglobin pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 21 0 0 19 6 24 TOPBP1 0 genome.wustl.edu 37 3 133358892 133358892 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 133358892 133358892 G A SNP TOPBP1 ENST00000260810 human ensembl 74_37 -1 known missense c.2144 p.A715V 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 82 0 0 70 8 10.2564 TOPBP1 0 genome.wustl.edu 37 3 133375669 133375669 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 133375669 133375669 G A SNP TOPBP1 ENST00000260810 human ensembl 74_37 -1 known silent c.396 p.G132 0.958 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 277 0 0 264 32 10.8108 RAB6B 0 genome.wustl.edu 37 3 133557073 133557073 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 133557073 133557073 G A SNP RAB6B ENST00000285208 human ensembl 74_37 -1 known silent c.432 p.R144 0.158 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB6B HGNC ENSG00000154917 134 0 0 103 32 23.7037 NUP210 0 genome.wustl.edu 37 3 13381431 13381431 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 13381431 13381431 C T SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known missense c.3394 p.A1132T 0.000 pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 98 0 0 73 19 20.6522 AMOTL2 0 genome.wustl.edu 37 3 134090186 134090186 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 134090186 134090186 C T SNP AMOTL2 ENST00000249883 human ensembl 74_37 -1 known silent c.90 p.T30 0.513 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL2 HGNC ENSG00000114019 26 0 0 18 6 25 HDAC11 0 genome.wustl.edu 37 3 13546068 13546068 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 13546068 13546068 G A SNP HDAC11 ENST00000295757 human ensembl 74_37 +1 known missense c.929 p.R310H 1.000 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,prints_His_deacetylse - no_errors HDAC11 HGNC ENSG00000163517 50 0 0 21 14 40 STAG1 0 genome.wustl.edu 37 3 136287655 136287655 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 136287655 136287655 C T SNP STAG1 ENST00000383202 human ensembl 74_37 -1 known missense c.346 p.A116T 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 45 0 0 41 5 10.8696 MRPS22 0 genome.wustl.edu 37 3 139074577 139074577 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 139074577 139074577 G A SNP MRPS22 ENST00000310776 human ensembl 74_37 +1 known missense c.932 p.G311D 0.973 NULL pfam_Ribosomal_S22_mit - no_errors MRPS22 HGNC ENSG00000175110 51 0 0 37 4 9.7561 COPB2 0 genome.wustl.edu 37 3 139080062 139080062 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 139080062 139080062 G A SNP COPB2 ENST00000333188 human ensembl 74_37 -1 known missense c.2071 p.H691Y 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 116 0 0 100 7 6.54206 CLSTN2 0 genome.wustl.edu 37 3 140167437 140167437 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 140167437 140167437 C T SNP CLSTN2 ENST00000458420 human ensembl 74_37 +1 known silent c.864 p.C288 0.952 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 146 0 0 113 11 8.87097 TRIM42 0 genome.wustl.edu 37 3 140401502 140401502 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 140401502 140401502 C T SNP TRIM42 ENST00000286349 human ensembl 74_37 +1 known silent c.540 p.T180 0.124 pfscan_Znf_RING pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM42 HGNC ENSG00000155890 70 0 0 35 18 33.9623 RASA2 0 genome.wustl.edu 37 3 141231095 141231095 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 141231095 141231095 G A SNP RASA2 ENST00000452898 human ensembl 74_37 +1 known missense c.224 p.R75H 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_RasGAP,pfam_C2_dom,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,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,prints_Znf_Btk_motif - no_errors RASA2 HGNC ENSG00000155903 100 0 0 73 25 25.5102 ATR 0 genome.wustl.edu 37 3 142266699 142266699 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 142266699 142266699 C T SNP ATR ENST00000350721 human ensembl 74_37 -1 known silent c.3225 p.L1075 1.000 superfamily_ARM-type_fold 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 65 0 0 72 5 6.49351 PBX2P1 0 genome.wustl.edu 37 3 142895462 142895462 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 142895462 142895462 C T SNP PBX2P1 ENST00000560287 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors PBX2P1 HGNC ENSG00000244171 73 0 0 55 7 11.2903 PBX2P1 0 genome.wustl.edu 37 3 142895615 142895615 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 142895615 142895615 C T SNP PBX2P1 ENST00000560287 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors PBX2P1 HGNC ENSG00000244171 55 0 0 29 4 12.1212 C3orf20 0 genome.wustl.edu 37 3 14724291 14724291 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 14724291 14724291 G A SNP C3orf20 ENST00000253697 human ensembl 74_37 +1 known missense c.71 p.R24H 0.144 NULL NULL - no_errors C3orf20 HGNC ENSG00000131379 141 1 0.704225 114 12 9.52381 C3orf20 0 genome.wustl.edu 37 3 14799160 14799160 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 14799160 14799160 C T SNP C3orf20 ENST00000253697 human ensembl 74_37 +1 known silent c.2223 p.G741 1.000 NULL NULL - no_errors C3orf20 HGNC ENSG00000131379 13 0 0 3 3 50 CPB1 0 genome.wustl.edu 37 3 148558742 148558742 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 148558742 148558742 C T SNP CPB1 ENST00000282957 human ensembl 74_37 +1 known missense c.454 p.R152C 0.992 pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPB1 HGNC ENSG00000153002 139 0 0 123 15 10.8696 GYG1 0 genome.wustl.edu 37 3 148741973 148741973 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 148741973 148741973 C A SNP GYG1 ENST00000345003 human ensembl 74_37 +1 known missense c.742 p.L248M 0.693 NULL pfam_Glyco_trans_8 - no_errors GYG1 HGNC ENSG00000163754 105 0 0 122 7 5.42636 HLTF 0 genome.wustl.edu 37 3 148781227 148781227 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 148781227 148781227 C T SNP HLTF ENST00000310053 human ensembl 74_37 -1 known missense c.1151 p.R384H 0.715 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_SNF2_N,pfam_HIP116_Rad5p_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HIP116_Rad5p_N,smart_Helicase_ATP-bd,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HLTF HGNC ENSG00000071794 105 0 0 71 15 17.4419 CP 0 genome.wustl.edu 37 3 148904520 148904520 + Splice_Site SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 148904520 148904520 C T SNP CP ENST00000264613 human ensembl 74_37 -1 known splice_site c.1865-1 e11-1 1.000 - - - no_errors CP HGNC ENSG00000047457 53 0 0 51 4 7.27273 SIAH2 0 genome.wustl.edu 37 3 150460413 150460413 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 150460413 150460413 G A SNP SIAH2 ENST00000312960 human ensembl 74_37 -1 known missense c.490 p.R164C 1.000 pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like,pfscan_Znf_SIAH pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors SIAH2 HGNC ENSG00000181788 79 0 0 56 7 11.1111 MED12L 0 genome.wustl.edu 37 3 150877785 150877785 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 150877785 150877785 G A SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.1004 p.G335D 0.241 pfam_Mediator_Med12_LCEWAV pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 92 0 0 72 5 6.49351 ZFYVE20 0 genome.wustl.edu 37 3 15116081 15116081 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 15116081 15116081 C A SNP ZFYVE20 ENST00000253699 human ensembl 74_37 -1 known missense c.1563 p.Q521H 1.000 NULL pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors ZFYVE20 HGNC ENSG00000131381 100 0 0 76 21 21.6495 IGSF10 0 genome.wustl.edu 37 3 151176330 151176330 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 151176330 151176330 C T SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known silent c.168 p.P56 0.000 smart_LRR-contain_N pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 55 0 0 29 11 27.5 CAPN7 0 genome.wustl.edu 37 3 15269407 15269407 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 15269407 15269407 C T SNP CAPN7 ENST00000253693 human ensembl 74_37 +1 known nonsense c.787 p.R263* 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_MIT,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_MIT,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,prints_Calpain_cysteine_protease,pfscan_Peptidase_C2_calpain_cat - no_errors CAPN7 HGNC ENSG00000131375 73 0 0 37 17 31.4815 SH3BP5-AS1 0 genome.wustl.edu 37 3 15298644 15298644 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 15298644 15298644 C T SNP SH3BP5-AS1 ENST00000420195 human ensembl 74_37 +1 known rna NULL NULL 0.130 - - - no_errors SH3BP5-AS1 HGNC ENSG00000224660 70 0 0 63 10 13.6986 ARHGEF26 0 genome.wustl.edu 37 3 153840497 153840497 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 153840497 153840497 G A SNP ARHGEF26 ENST00000356448 human ensembl 74_37 +1 known missense c.716 p.S239N 1.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF26 HGNC ENSG00000114790 24 0 0 8 4 33.3333 ARHGEF26 0 genome.wustl.edu 37 3 153935682 153935682 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 153935682 153935682 G A SNP ARHGEF26 ENST00000356448 human ensembl 74_37 +1 known missense c.1870 p.A624T 0.999 superfamily_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF26 HGNC ENSG00000114790 32 0 0 17 9 34.6154 DHX36 0 genome.wustl.edu 37 3 154022736 154022736 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 154022736 154022736 C T SNP DHX36 ENST00000496811 human ensembl 74_37 -1 known missense c.994 p.V332I 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_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 66 0 0 52 15 22.3881 GPR149 0 genome.wustl.edu 37 3 154055676 154055676 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 154055676 154055676 C T SNP GPR149 ENST00000389740 human ensembl 74_37 -1 known missense c.2008 p.A670T 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR149 HGNC ENSG00000174948 199 0 0 142 43 23.2432 PLCH1 0 genome.wustl.edu 37 3 155203197 155203197 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 155203197 155203197 C T SNP PLCH1 ENST00000340059 human ensembl 74_37 -1 known silent c.2946 p.S982 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 117 0 0 90 7 7.21649 PLCH1 0 genome.wustl.edu 37 3 155215148 155215148 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 155215148 155215148 A G SNP PLCH1 ENST00000340059 human ensembl 74_37 -1 known missense c.1819 p.Y607H 0.997 pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y 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 115 0 0 96 7 6.79612 GMPS 0 genome.wustl.edu 37 3 155639982 155639982 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 155639982 155639982 G A SNP GMPS ENST00000496455 human ensembl 74_37 +1 known missense c.1325 p.G442D 1.000 NULL pfam_GATASE,pfam_GMP_synth_C,pfam_Peptidase_C26,pfam_NAD/GMP_synthase,pfam_QueC,pfam_Asn_synthase,pfam_tRNA-specific_2-thiouridylase,tigrfam_GMP_synth_N - no_errors GMPS HGNC ENSG00000163655 23 0 0 15 3 16.6667 HACL1 0 genome.wustl.edu 37 3 15609981 15609981 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 15609981 15609981 T C SNP HACL1 ENST00000321169 human ensembl 74_37 -1 known missense c.1208 p.D403G 1.000 pfam_TPP_enzyme-bd_C pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_Thiamin_PyroP_enz_cen_dom,pfam_TPP_enzyme-bd_C,pfam_CO_DH_CoA_synth - no_errors HACL1 HGNC ENSG00000131373 111 0 0 124 7 5.34351 SSR3 0 genome.wustl.edu 37 3 156272757 156272757 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 156272757 156272757 G A SNP SSR3 ENST00000265044 human ensembl 74_37 -1 known missense c.122 p.A41V 1.000 pfam_TRAP-gamma pfam_TRAP-gamma - no_errors SSR3 HGNC ENSG00000114850 24 0 0 19 8 29.6296 TIPARP 0 genome.wustl.edu 37 3 156396186 156396186 + Missense_Mutation SNP A A C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 156396186 156396186 A C SNP TIPARP ENST00000295924 human ensembl 74_37 +1 known missense c.700 p.T234P 1.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors TIPARP HGNC ENSG00000163659 132 1 0.75188 128 12 8.57143 RSRC1 0 genome.wustl.edu 37 3 157920883 157920883 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 157920883 157920883 C T SNP RSRC1 ENST00000295930 human ensembl 74_37 +1 known missense c.343 p.R115C 1.000 NULL NULL - no_errors RSRC1 HGNC ENSG00000174891 57 0 0 67 4 5.6338 SMC4 0 genome.wustl.edu 37 3 160138560 160138560 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 160138560 160138560 C T SNP SMC4 ENST00000344722 human ensembl 74_37 +1 known silent c.1890 p.D630 0.977 pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 140 1 0.70922 103 17 14.1667 SI 0 genome.wustl.edu 37 3 164709998 164709998 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 164709998 164709998 G A SNP SI ENST00000264382 human ensembl 74_37 -1 known silent c.4950 p.Y1650 0.141 pfam_Glyco_hydro_31 pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 203 0 0 128 43 25.1462 SI 0 genome.wustl.edu 37 3 164764719 164764719 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 164764719 164764719 C T SNP SI ENST00000264382 human ensembl 74_37 -1 known silent c.1797 p.A599 0.400 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 113 1 0.877193 77 29 27.3585 SLC7A14 0 genome.wustl.edu 37 3 170184883 170184883 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 170184883 170184883 G A SNP SLC7A14 ENST00000231706 human ensembl 74_37 -1 known missense c.2276 p.A759V 1.000 NULL pfam_AA-permease/SLC12A_dom - no_errors SLC7A14 HGNC ENSG00000013293 156 0 0 161 13 7.47126 TNIK 0 genome.wustl.edu 37 3 170805172 170805172 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 170805172 170805172 G A SNP TNIK ENST00000436636 human ensembl 74_37 -1 known missense c.2845 p.R949C 0.995 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors TNIK HGNC ENSG00000154310 100 1 0.990099 66 7 9.58904 GHSR 0 genome.wustl.edu 37 3 172166024 172166024 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 172166024 172166024 G A SNP GHSR ENST00000241256 human ensembl 74_37 -1 known silent c.180 p.G60 0.997 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS-R,prints_GPCR_Rhodpsn - no_errors GHSR HGNC ENSG00000121853 43 0 0 31 9 22.5 ZNF639 0 genome.wustl.edu 37 3 179051265 179051265 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 179051265 179051265 G A SNP ZNF639 ENST00000326361 human ensembl 74_37 +1 known silent c.513 p.P171 0.959 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF639 HGNC ENSG00000121864 67 0 0 63 18 22.2222 ZNF639 0 genome.wustl.edu 37 3 179052028 179052028 + Missense_Mutation SNP T T G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 179052028 179052028 T G SNP ZNF639 ENST00000326361 human ensembl 74_37 +1 known missense c.1276 p.L426V 0.977 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF639 HGNC ENSG00000121864 90 0 0 58 4 6.45161 USP13 0 genome.wustl.edu 37 3 179437789 179437789 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 179437789 179437789 G A SNP USP13 ENST00000263966 human ensembl 74_37 +1 known silent c.867 p.A289 0.566 pirsf_Ubiquitinyl_hydrolase pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP13 HGNC ENSG00000058056 115 0 0 69 20 22.4719 CCDC39 0 genome.wustl.edu 37 3 180334111 180334111 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 180334111 180334111 C T SNP CCDC39 ENST00000442201 human ensembl 74_37 -1 known missense c.2627 p.R876H 0.001 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC39 HGNC ENSG00000145075 79 0 0 39 12 23.5294 FXR1 0 genome.wustl.edu 37 3 180688056 180688056 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 180688056 180688056 C T SNP FXR1 ENST00000357559 human ensembl 74_37 +1 known missense c.1513 p.R505W 1.000 NULL pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,superfamily_NA-bd_OB-fold,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR1 HGNC ENSG00000114416 129 0 0 84 24 22.2222 YEATS2 0 genome.wustl.edu 37 3 183490118 183490118 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 183490118 183490118 C T SNP YEATS2 ENST00000305135 human ensembl 74_37 +1 known missense c.1973 p.A658V 0.997 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC ENSG00000163872 82 0 0 41 14 25.4545 ABCC5 0 genome.wustl.edu 37 3 183689508 183689508 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 183689508 183689508 C T SNP ABCC5 ENST00000334444 human ensembl 74_37 -1 known missense c.1604 p.R535H 0.002 superfamily_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 46 0 0 32 10 23.8095 AP2M1 0 genome.wustl.edu 37 3 183900553 183900553 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 183900553 183900553 G A SNP AP2M1 ENST00000292807 human ensembl 74_37 +1 known missense c.1070 p.R357H 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP2M1 HGNC ENSG00000161203 69 0 0 60 6 9.09091 ABCF3 0 genome.wustl.edu 37 3 183910955 183910955 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 183910955 183910955 C T SNP ABCF3 ENST00000429586 human ensembl 74_37 +1 known missense c.1816 p.R606C 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 ABCF3 HGNC ENSG00000161204 53 0 0 34 15 30.6122 CAMK2N2 0 genome.wustl.edu 37 3 183978984 183978984 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 183978984 183978984 C T SNP CAMK2N2 ENST00000296238 human ensembl 74_37 -1 known silent c.90 p.L30 0.998 NULL NULL - no_errors CAMK2N2 HGNC ENSG00000163888 15 0 0 12 4 25 ECE2 0 genome.wustl.edu 37 3 184002835 184002835 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 184002835 184002835 G A SNP ECE2 ENST00000402825 human ensembl 74_37 +1 known missense c.1444 p.V482M 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C - no_errors ECE2 HGNC ENSG00000145194 115 0 0 71 8 10.1266 ECE2 0 genome.wustl.edu 37 3 184008830 184008830 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 184008830 184008830 C T SNP ECE2 ENST00000402825 human ensembl 74_37 +1 known missense c.2191 p.R731C 0.926 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C - no_errors ECE2 HGNC ENSG00000145194 116 0 0 82 6 6.81818 PSMD2 0 genome.wustl.edu 37 3 184025435 184025435 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 184025435 184025435 G A SNP PSMD2 ENST00000310118 human ensembl 74_37 +1 known missense c.2237 p.R746H 1.000 superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 - no_errors PSMD2 HGNC ENSG00000175166 55 0 0 48 17 26.1538 EIF4G1 0 genome.wustl.edu 37 3 184039307 184039307 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 184039307 184039307 G A SNP EIF4G1 ENST00000352767 human ensembl 74_37 +1 known missense c.956 p.R319H 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 105 0 0 58 24 29.2683 EPHB3 0 genome.wustl.edu 37 3 184290699 184290699 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 184290699 184290699 C T SNP EPHB3 ENST00000330394 human ensembl 74_37 +1 known silent c.591 p.G197 0.241 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,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB3 HGNC ENSG00000182580 35 0 0 17 18 51.4286 EPHB3 0 genome.wustl.edu 37 3 184297350 184297350 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 184297350 184297350 C T SNP EPHB3 ENST00000330394 human ensembl 74_37 +1 known silent c.1887 p.D629 0.839 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Kinase-like_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB3 HGNC ENSG00000182580 52 0 0 41 34 45.3333 VPS8 0 genome.wustl.edu 37 3 184714256 184714256 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 184714256 184714256 G A SNP VPS8 ENST00000287546 human ensembl 74_37 +1 known missense c.3803 p.R1268H 1.000 smart_Znf_RING,pfscan_Znf_RING superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors VPS8 HGNC ENSG00000156931 73 0 0 59 23 28.0488 SENP2 0 genome.wustl.edu 37 3 185347619 185347619 + Missense_Mutation SNP A A C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 185347619 185347619 A C SNP SENP2 ENST00000296257 human ensembl 74_37 +1 known missense c.1757 p.Q586P 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP2 HGNC ENSG00000163904 85 0 0 49 4 7.54717 TRA2B 0 genome.wustl.edu 37 3 185641779 185641779 + RNA SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 185641779 185641779 A G SNP TRA2B ENST00000465245 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TRA2B HGNC ENSG00000136527 59 0 0 39 20 33.8983 TRA2B 0 genome.wustl.edu 37 3 185643269 185643269 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 185643269 185643269 G A SNP TRA2B ENST00000453386 human ensembl 74_37 -1 known missense c.316 p.R106C 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TRA2B HGNC ENSG00000136527 89 0 0 65 7 9.72222 TBCCD1 0 genome.wustl.edu 37 3 186281967 186281967 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 186281967 186281967 C T SNP TBCCD1 ENST00000338733 human ensembl 74_37 -1 known missense c.152 p.R51H 0.829 NULL pfam_Tubulin-bd_cofactor_C_dom,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif - no_errors TBCCD1 HGNC ENSG00000113838 56 0 0 54 8 12.9032 HRG 0 genome.wustl.edu 37 3 186395126 186395126 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 186395126 186395126 T C SNP HRG ENST00000232003 human ensembl 74_37 +1 known silent c.1032 p.N344 0.000 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors HRG HGNC ENSG00000113905 47 0 0 47 3 6 ST6GAL1 0 genome.wustl.edu 37 3 186761061 186761061 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 186761061 186761061 G A SNP ST6GAL1 ENST00000169298 human ensembl 74_37 +1 known silent c.570 p.A190 0.012 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GAL1 HGNC ENSG00000073849 127 0 0 113 6 5.04202 BCL6 0 genome.wustl.edu 37 3 187451444 187451444 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 187451444 187451444 C T SNP BCL6 ENST00000232014 human ensembl 74_37 -1 known missense c.38 p.R13H 1.000 superfamily_BTB/POZ_fold pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6 HGNC ENSG00000113916 105 0 0 106 6 5.35714 CLDN1 0 genome.wustl.edu 37 3 190030679 190030679 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 190030679 190030679 C T SNP CLDN1 ENST00000295522 human ensembl 74_37 -1 known missense c.370 p.A124T 0.533 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin1,prints_Claudin14 - no_errors CLDN1 HGNC ENSG00000163347 186 0 0 137 40 22.5989 CCDC50 0 genome.wustl.edu 37 3 191097951 191097951 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 191097951 191097951 T C SNP CCDC50 ENST00000392456 human ensembl 74_37 +1 known missense c.980 p.M327T 0.874 NULL NULL - no_errors CCDC50 HGNC ENSG00000152492 41 0 0 30 18 37.5 KCNH8 0 genome.wustl.edu 37 3 19190212 19190212 + Missense_Mutation SNP A A T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 19190212 19190212 A T SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.1 p.M1L 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 166 0 0 88 40 31.25 MB21D2 0 genome.wustl.edu 37 3 192516776 192516776 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 192516776 192516776 G A SNP MB21D2 ENST00000392452 human ensembl 74_37 -1 known missense c.875 p.A292V 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MB21D2 HGNC ENSG00000180611 27 0 0 18 3 14.2857 ATP13A4 0 genome.wustl.edu 37 3 193171906 193171906 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 193171906 193171906 C T SNP ATP13A4 ENST00000342695 human ensembl 74_37 -1 known missense c.2011 p.A671T 0.002 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,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 70 0 0 50 12 19.3548 OPA1 0 genome.wustl.edu 37 3 193343987 193343987 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 193343987 193343987 G A SNP OPA1 ENST00000361510 human ensembl 74_37 +1 known missense c.785 p.R262H 1.000 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF - no_errors OPA1 HGNC ENSG00000198836 42 0 0 37 19 33.9286 LRRC15 0 genome.wustl.edu 37 3 194080553 194080553 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 194080553 194080553 C T SNP LRRC15 ENST00000439944 human ensembl 74_37 -1 known missense c.1238 p.G413D 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC15 HGNC ENSG00000172061 23 0 0 29 12 29.2683 ATP13A3 0 genome.wustl.edu 37 3 194158063 194158063 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 194158063 194158063 G A SNP ATP13A3 ENST00000256031 human ensembl 74_37 -1 known missense c.1976 p.A659V 1.000 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,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,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A3 HGNC ENSG00000133657 135 0 0 82 25 23.3645 MUC20 0 genome.wustl.edu 37 3 195453212 195453212 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 195453212 195453212 G A SNP MUC20 ENST00000447234 human ensembl 74_37 +1 known missense c.1738 p.A580T 0.000 NULL NULL - no_errors MUC20 HGNC ENSG00000176945 105 0 0 73 17 18.8889 MUC4 0 genome.wustl.edu 37 3 195508234 195508234 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 195508234 195508234 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.10217 p.T3406I 0.001 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 34 0 0 25 4 13.7931 MUC4 0 genome.wustl.edu 37 3 195512699 195512699 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 195512699 195512699 C T SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.5752 p.A1918T 0.003 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 51 0 0 44 6 12 TM4SF19 0 genome.wustl.edu 37 3 196054415 196054415 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 196054415 196054415 C T SNP TM4SF19 ENST00000273695 human ensembl 74_37 -1 known missense c.47 p.R16H 0.998 pfam_L6_membrane pfam_L6_membrane - no_errors TM4SF19 HGNC ENSG00000145107 82 0 0 50 17 25.3731 NRROS 0 genome.wustl.edu 37 3 196388524 196388524 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 196388524 196388524 C T SNP NRROS ENST00000328557 human ensembl 74_37 +1 known silent c.2010 p.I670 0.988 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors NRROS HGNC ENSG00000174004 107 0 0 84 29 25.6637 PIGZ 0 genome.wustl.edu 37 3 196674848 196674848 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 196674848 196674848 G A SNP PIGZ ENST00000412723 human ensembl 74_37 -1 known missense c.920 p.A307V 0.992 pfam_GPI_mannosylTrfase pfam_GPI_mannosylTrfase - no_errors PIGZ HGNC ENSG00000119227 122 1 0.813008 60 4 6.25 MFI2 0 genome.wustl.edu 37 3 196736624 196736624 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 196736624 196736624 C T SNP MFI2 ENST00000296350 human ensembl 74_37 -1 known missense c.1390 p.A464T 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 34 0 0 22 8 26.6667 LRCH3 0 genome.wustl.edu 37 3 197559147 197559147 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 197559147 197559147 A G SNP LRCH3 ENST00000438796 human ensembl 74_37 +1 known missense c.1061 p.Y354C 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 LRCH3 HGNC ENSG00000186001 121 0 0 89 10 10.101 IQCG 0 genome.wustl.edu 37 3 197618326 197618326 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 197618326 197618326 G A SNP IQCG ENST00000265239 human ensembl 74_37 -1 known silent c.1188 p.S396 0.105 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCG HGNC ENSG00000114473 87 0 0 59 27 31.3953 IQCG 0 genome.wustl.edu 37 3 197618384 197618384 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 197618384 197618384 C T SNP IQCG ENST00000265239 human ensembl 74_37 -1 known missense c.1130 p.R377H 0.996 superfamily_P-loop_NTPase pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCG HGNC ENSG00000114473 100 0 0 111 7 5.9322 TOP2B 0 genome.wustl.edu 37 3 25668727 25668727 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 25668727 25668727 C T SNP TOP2B ENST00000264331 human ensembl 74_37 -1 known missense c.1967 p.R656H 1.000 superfamily_Topo_IIA_like_dom,smart_Topo_IIA pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2B HGNC ENSG00000077097 171 0 0 148 27 15.4286 LRRC3B 0 genome.wustl.edu 37 3 26751046 26751046 + RNA SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 26751046 26751046 A G SNP LRRC3B ENST00000469437 human ensembl 74_37 +1 putative rna NULL NULL 0.022 - - - no_errors LRRC3B HGNC ENSG00000179796 17 0 0 19 4 17.3913 LRRC3B 0 genome.wustl.edu 37 3 26751777 26751777 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 26751777 26751777 C T SNP LRRC3B ENST00000396641 human ensembl 74_37 +1 known missense c.614 p.A205V 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC3B HGNC ENSG00000179796 47 0 0 30 7 18.9189 NEK10 0 genome.wustl.edu 37 3 27244008 27244008 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 27244008 27244008 C A SNP NEK10 ENST00000383771 human ensembl 74_37 -1 known missense c.67 p.D23Y 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors NEK10 HGNC ENSG00000163491 69 0 0 43 17 28.3333 CMTM8 0 genome.wustl.edu 37 3 32409470 32409470 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 32409470 32409470 C T SNP CMTM8 ENST00000307526 human ensembl 74_37 +1 known missense c.428 p.A143V 0.979 pfam_Marvel,prints_MAL pfam_Marvel,prints_MAL - no_errors CMTM8 HGNC ENSG00000170293 74 0 0 56 5 8.19672 CRTAP 0 genome.wustl.edu 37 3 33174107 33174107 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 33174107 33174107 A G SNP CRTAP ENST00000320954 human ensembl 74_37 +1 known missense c.983 p.D328G 1.000 NULL NULL - no_errors CRTAP HGNC ENSG00000170275 193 0 0 154 14 8.33333 UBP1 0 genome.wustl.edu 37 3 33453092 33453092 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 33453092 33453092 C T SNP UBP1 ENST00000283628 human ensembl 74_37 -1 known missense c.536 p.R179H 1.000 pfam_CP2 pfam_CP2,superfamily_SAM/pointed - no_errors UBP1 HGNC ENSG00000153560 109 0 0 87 30 25.641 CLASP2 0 genome.wustl.edu 37 3 33592749 33592749 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 33592749 33592749 G A SNP CLASP2 ENST00000399362 human ensembl 74_37 -1 known missense c.3169 p.R1057W 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC ENSG00000163539 99 0 0 59 15 20.2703 CLASP2 0 genome.wustl.edu 37 3 33617676 33617676 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 33617676 33617676 C T SNP CLASP2 ENST00000399362 human ensembl 74_37 -1 known silent c.2439 p.A813 0.008 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC ENSG00000163539 92 0 0 54 15 21.7391 CLASP2 0 genome.wustl.edu 37 3 33729801 33729801 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 33729801 33729801 G A SNP CLASP2 ENST00000399362 human ensembl 74_37 -1 known silent c.438 p.G146 1.000 pfam_CLASP_N_dom,superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC ENSG00000163539 18 0 0 10 4 28.5714 TRANK1 0 genome.wustl.edu 37 3 36873314 36873314 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 36873314 36873314 C T SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.7628 p.R2543H 0.053 NULL pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 98 0 0 59 24 28.9157 TRANK1 0 genome.wustl.edu 37 3 36873381 36873381 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 36873381 36873381 G T SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.7561 p.L2521M 1.000 NULL pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 96 0 0 98 7 6.66667 TRANK1 0 genome.wustl.edu 37 3 36897695 36897695 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 36897695 36897695 C T SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.3386 p.G1129D 0.000 superfamily_P-loop_NTPase pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 53 0 0 46 6 11.5385 LRRFIP2 0 genome.wustl.edu 37 3 37095348 37095348 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 37095348 37095348 C T SNP LRRFIP2 ENST00000336686 human ensembl 74_37 -1 known silent c.2160 p.Q720 1.000 NULL pfam_Leu-rich_rep_flightless-int_pr,superfamily_bHLH_dom,superfamily_Prefoldin - no_errors LRRFIP2 HGNC ENSG00000093167 70 0 0 62 4 6.06061 GOLGA4 0 genome.wustl.edu 37 3 37367797 37367797 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 37367797 37367797 G A SNP GOLGA4 ENST00000361924 human ensembl 74_37 +1 known missense c.4420 p.A1474T 0.196 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 119 0 0 99 12 10.8108 GOLGA4 0 genome.wustl.edu 37 3 37388776 37388776 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 37388776 37388776 C T SNP GOLGA4 ENST00000361924 human ensembl 74_37 +1 known missense c.6565 p.R2189C 1.000 pfam_GRIP,superfamily_GRIP,smart_GRIP,pfscan_GRIP pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 97 0 0 60 30 33.3333 ITGA9 0 genome.wustl.edu 37 3 37559045 37559045 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 37559045 37559045 G A SNP ITGA9 ENST00000264741 human ensembl 74_37 +1 known silent c.1086 p.A362 0.336 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA9 HGNC ENSG00000144668 14 0 0 7 3 30 PLCD1 0 genome.wustl.edu 37 3 38061761 38061761 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 38061761 38061761 C T SNP PLCD1 ENST00000463876 human ensembl 74_37 -1 known silent c.180 p.E60 0.767 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD1 HGNC ENSG00000187091 64 0 0 34 13 27.6596 DLEC1 0 genome.wustl.edu 37 3 38136483 38136483 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 38136483 38136483 C T SNP DLEC1 ENST00000346219 human ensembl 74_37 +1 known missense c.2033 p.A678V 1.000 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 86 0 0 41 22 34.9206 SLC22A13 0 genome.wustl.edu 37 3 38316619 38316619 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 38316619 38316619 G A SNP SLC22A13 ENST00000450935 human ensembl 74_37 +1 known missense c.499 p.A167T 0.000 NULL NULL - no_errors SLC22A13 HGNC ENSG00000172940 167 0 0 133 13 8.90411 SLC22A14 0 genome.wustl.edu 37 3 38354921 38354921 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 38354921 38354921 G A SNP SLC22A14 ENST00000273173 human ensembl 74_37 +1 known missense c.1108 p.D370N 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A14 HGNC ENSG00000144671 79 0 0 70 16 18.6047 EXOG 0 genome.wustl.edu 37 3 38565787 38565787 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 38565787 38565787 T C SNP EXOG ENST00000287675 human ensembl 74_37 +1 known silent c.1041 p.Y347 0.165 NULL pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A - no_errors EXOG HGNC ENSG00000157036 137 0 0 87 5 5.43478 LRRN1 0 genome.wustl.edu 37 3 3888176 3888176 + Silent SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 3888176 3888176 C A SNP LRRN1 ENST00000319331 human ensembl 74_37 +1 known silent c.1851 p.A617 0.000 NULL 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 162 0 0 119 42 26.087 CSRNP1 0 genome.wustl.edu 37 3 39186606 39186606 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 39186606 39186606 C T SNP CSRNP1 ENST00000273153 human ensembl 74_37 -1 known missense c.347 p.R116H 0.092 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP1 HGNC ENSG00000144655 48 0 0 30 13 30.2326 SLC25A38 0 genome.wustl.edu 37 3 39437962 39437962 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 39437962 39437962 C T SNP SLC25A38 ENST00000273158 human ensembl 74_37 +1 known missense c.866 p.A289V 0.998 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A38 HGNC ENSG00000144659 175 0 0 122 29 19.2053 ENTPD3 0 genome.wustl.edu 37 3 40456333 40456333 + Splice_Site SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 40456333 40456333 T C SNP ENTPD3 ENST00000301825 human ensembl 74_37 +1 known splice_site c.597+2 e5+2 1.000 - - - no_errors ENTPD3 HGNC ENSG00000168032 203 0 0 109 65 37.3563 ZNF620 0 genome.wustl.edu 37 3 40557940 40557940 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 40557940 40557940 C T SNP ZNF620 ENST00000314529 human ensembl 74_37 +1 known silent c.855 p.C285 0.966 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 ZNF620 HGNC ENSG00000177842 98 0 0 65 22 25.2874 TRAK1 0 genome.wustl.edu 37 3 42235319 42235319 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 42235319 42235319 G A SNP TRAK1 ENST00000396175 human ensembl 74_37 +1 known missense c.730 p.A244T 0.882 pfam_HAP1_N pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 125 1 0.793651 101 35 25.7353 TRAK1 0 genome.wustl.edu 37 3 42240734 42240734 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 42240734 42240734 T C SNP TRAK1 ENST00000396175 human ensembl 74_37 +1 known silent c.1005 p.S335 0.999 NULL pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 47 0 0 31 4 11.4286 TRAK1 0 genome.wustl.edu 37 3 42243993 42243993 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 42243993 42243993 C T SNP TRAK1 ENST00000396175 human ensembl 74_37 +1 known missense c.1319 p.A440V 1.000 pfam_Traffickng_kinesin-bd_prot_dom pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 32 0 0 17 4 19.0476 SNRK 0 genome.wustl.edu 37 3 43389129 43389129 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 43389129 43389129 T C SNP SNRK ENST00000296088 human ensembl 74_37 +1 known missense c.1378 p.S460P 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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SNRK HGNC ENSG00000163788 78 0 0 41 26 38.806 ZNF660 0 genome.wustl.edu 37 3 44635896 44635896 + Missense_Mutation SNP A A T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 44635896 44635896 A T SNP ZNF660 ENST00000322734 human ensembl 74_37 +1 known missense c.211 p.I71F 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF660 HGNC ENSG00000144792 111 0 0 63 34 35.0515 KIF15 0 genome.wustl.edu 37 3 44846554 44846554 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 44846554 44846554 C T SNP KIF15 ENST00000326047 human ensembl 74_37 +1 known missense c.1723 p.P575S 0.001 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF15 HGNC ENSG00000163808 65 0 0 64 7 9.85915 EXOSC7 0 genome.wustl.edu 37 3 45030680 45030680 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 45030680 45030680 G A SNP EXOSC7 ENST00000265564 human ensembl 74_37 +1 known missense c.106 p.E36K 1.000 pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC7 HGNC ENSG00000075914 44 0 0 27 6 18.1818 FYCO1 0 genome.wustl.edu 37 3 46008705 46008705 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 46008705 46008705 G A SNP FYCO1 ENST00000535325 human ensembl 74_37 -1 known silent c.2121 p.G707 0.000 superfamily_Prefoldin pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC ENSG00000163820 118 0 0 102 14 12.069 FYCO1 0 genome.wustl.edu 37 3 46009957 46009957 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 46009957 46009957 C T SNP FYCO1 ENST00000535325 human ensembl 74_37 -1 known missense c.869 p.R290H 0.003 NULL pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC ENSG00000163820 66 0 0 51 19 27.1429 CCR5 0 genome.wustl.edu 37 3 46414590 46414590 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 46414590 46414590 A G SNP CCR5 ENST00000292303 human ensembl 74_37 +1 known missense c.197 p.D66G 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_rcpt,prints_GPCR_Rhodpsn,prints_Chemokine_CCR1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_rcpt,prints_GPCR_Rhodpsn,prints_Chemokine_CCR5,prints_Chemokine_CCR1,prints_ATII_rcpt - no_errors CCR5 HGNC ENSG00000160791 171 0 0 127 37 22.561 MYL3 0 genome.wustl.edu 37 3 46904789 46904789 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 46904789 46904789 C T SNP MYL3 ENST00000292327 human ensembl 74_37 -1 known missense c.92 p.R31H 0.007 NULL pfscan_EF_hand_dom - no_errors MYL3 HGNC ENSG00000160808 139 0 0 110 7 5.98291 PTH1R 0 genome.wustl.edu 37 3 46940211 46940211 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 46940211 46940211 G A SNP PTH1R ENST00000313049 human ensembl 74_37 +1 known missense c.698 p.R233H 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt - no_errors PTH1R HGNC ENSG00000160801 38 0 0 27 3 10 ITPR1 0 genome.wustl.edu 37 3 4703860 4703860 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 4703860 4703860 C T SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known missense c.1301 p.A434V 1.000 prints_InsP3_rcpt-bd pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 67 0 0 52 17 24.6377 ITPR1 0 genome.wustl.edu 37 3 4735265 4735265 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 4735265 4735265 G A SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known missense c.4076 p.R1359Q 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,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 133 0 0 77 38 33.0435 PTPN23 0 genome.wustl.edu 37 3 47453616 47453616 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 47453616 47453616 G A SNP PTPN23 ENST00000265562 human ensembl 74_37 +1 known missense c.4106 p.R1369H 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 41 0 0 38 11 22.449 CSPG5 0 genome.wustl.edu 37 3 47604238 47604238 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 47604238 47604238 G T SNP CSPG5 ENST00000383738 human ensembl 74_37 -1 known missense c.1553 p.A518D 0.998 pfam_Neural_ProG_Cyt pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt - no_errors CSPG5 HGNC ENSG00000114646 113 0 0 78 24 23.5294 SMARCC1 0 genome.wustl.edu 37 3 47712178 47712178 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 47712178 47712178 C T SNP SMARCC1 ENST00000254480 human ensembl 74_37 -1 known nonsense c.1869 p.W623* 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC1 HGNC ENSG00000173473 90 0 0 61 18 22.7848 DHX30 0 genome.wustl.edu 37 3 47888355 47888355 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 47888355 47888355 G A SNP DHX30 ENST00000445061 human ensembl 74_37 +1 known missense c.1793 p.R598H 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX30 HGNC ENSG00000132153 18 0 0 11 5 31.25 ITPR1 0 genome.wustl.edu 37 3 4808340 4808340 + Nonsense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 4808340 4808340 G T SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known nonsense c.5626 p.G1876* 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,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 108 1 0.917431 79 30 27.5229 ITPR1 0 genome.wustl.edu 37 3 4825528 4825528 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 4825528 4825528 G A SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known missense c.6494 p.S2165N 0.154 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 40 0 0 27 12 30.7692 FBXW12 0 genome.wustl.edu 37 3 48423521 48423521 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 48423521 48423521 A G SNP FBXW12 ENST00000296438 human ensembl 74_37 +1 known missense c.1241 p.Y414C 0.007 NULL pfam_F-box_dom,superfamily_Quino_amine_DH_bsu,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXW12 HGNC ENSG00000164049 74 0 0 58 4 6.45161 PLXNB1 0 genome.wustl.edu 37 3 48451962 48451962 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 48451962 48451962 G A SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known missense c.5422 p.R1808W 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,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 PLXNB1 HGNC ENSG00000164050 31 0 0 22 3 12 PLXNB1 0 genome.wustl.edu 37 3 48455097 48455097 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 48455097 48455097 A G SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known missense c.4517 p.I1506T 1.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,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 PLXNB1 HGNC ENSG00000164050 42 0 0 15 7 31.8182 PLXNB1 0 genome.wustl.edu 37 3 48462284 48462284 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 48462284 48462284 G A SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known missense c.1892 p.A631V 1.000 superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,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 PLXNB1 HGNC ENSG00000164050 43 0 0 17 5 22.7273 CELSR3 0 genome.wustl.edu 37 3 48678953 48678953 + Silent SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 48678953 48678953 C A SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known silent c.8844 p.V2948 1.000 NULL pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 39 0 0 20 8 28.5714 QRICH1 0 genome.wustl.edu 37 3 49095173 49095173 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 49095173 49095173 G A SNP QRICH1 ENST00000357496 human ensembl 74_37 -1 known missense c.460 p.P154S 0.981 NULL pfam_DUF3504,superfamily_DEATH-like_dom - no_errors QRICH1 HGNC ENSG00000198218 84 0 0 64 6 8.57143 QRICH1 0 genome.wustl.edu 37 3 49114337 49114337 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 49114337 49114337 C T SNP QRICH1 ENST00000357496 human ensembl 74_37 -1 known silent c.114 p.G38 0.971 superfamily_DEATH-like_dom pfam_DUF3504,superfamily_DEATH-like_dom - no_errors QRICH1 HGNC ENSG00000198218 137 0 0 102 13 11.3043 USP19 0 genome.wustl.edu 37 3 49148537 49148537 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 49148537 49148537 G A SNP USP19 ENST00000398888 human ensembl 74_37 -1 known missense c.3082 p.R1028C 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_MYND,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_Znf_MYND,pfscan_Peptidase_C19/C67 - no_errors USP19 HGNC ENSG00000172046 90 0 0 42 20 32.2581 CCDC71 0 genome.wustl.edu 37 3 49200838 49200838 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 49200838 49200838 C T SNP CCDC71 ENST00000321895 human ensembl 74_37 -1 known silent c.804 p.R268 0.000 NULL NULL - no_errors CCDC71 HGNC ENSG00000177352 86 0 0 44 13 22.807 CCDC36 0 genome.wustl.edu 37 3 49292916 49292916 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 49292916 49292916 G T SNP CCDC36 ENST00000296449 human ensembl 74_37 +1 known missense c.626 p.R209I 0.000 NULL NULL - no_errors CCDC36 HGNC ENSG00000173421 89 0 0 58 28 32.5581 AMT 0 genome.wustl.edu 37 3 49459799 49459799 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 49459799 49459799 C T SNP AMT ENST00000273588 human ensembl 74_37 -1 known missense c.85 p.A29T 0.002 pirsf_GcvT pfam_GCV_T_N,pfam_GCV_T_C,pirsf_GcvT,tigrfam_GcvT - no_errors AMT HGNC ENSG00000145020 28 0 0 18 5 21.7391 DAG1 0 genome.wustl.edu 37 3 49570086 49570086 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 49570086 49570086 G A SNP DAG1 ENST00000308775 human ensembl 74_37 +1 known silent c.2142 p.R714 0.982 pfam_DAG1 pfam_DAG1,superfamily_Alpha-dystroglycan_domain_2,superfamily_Cadherin-like,smart_Cadg - no_errors DAG1 HGNC ENSG00000173402 42 0 0 29 3 9.375 BSN 0 genome.wustl.edu 37 3 49694978 49694978 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 49694978 49694978 C T SNP BSN ENST00000296452 human ensembl 74_37 +1 known silent c.7989 p.S2663 0.518 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 59 0 0 29 9 23.6842 BSN 0 genome.wustl.edu 37 3 49699714 49699714 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 49699714 49699714 C T SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.10436 p.A3479V 0.007 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 40 0 0 17 6 26.087 IP6K1 0 genome.wustl.edu 37 3 49785329 49785329 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 49785329 49785329 T C SNP IP6K1 ENST00000321599 human ensembl 74_37 -1 known missense c.145 p.K49E 1.000 NULL pfam_IPK - no_errors IP6K1 HGNC ENSG00000176095 40 0 0 49 5 9.25926 MST1R 0 genome.wustl.edu 37 3 49935976 49935976 + Missense_Mutation SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 49935976 49935976 T A SNP MST1R ENST00000296474 human ensembl 74_37 -1 known missense c.1694 p.D565V 0.994 pirsf_Tyr_kinase_HGF/MSP_rcpt,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Plexin-like_fold pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MST1R HGNC ENSG00000164078 70 0 0 42 17 28.8136 RBM6 0 genome.wustl.edu 37 3 50005976 50005976 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 50005976 50005976 C T SNP RBM6 ENST00000266022 human ensembl 74_37 +1 known missense c.1118 p.S373F 1.000 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 101 0 0 80 5 5.88235 GNAT1 0 genome.wustl.edu 37 3 50231062 50231062 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 50231062 50231062 G A SNP GNAT1 ENST00000232461 human ensembl 74_37 +1 known missense c.415 p.A139T 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAT1 HGNC ENSG00000114349 32 0 0 22 9 29.0323 SEMA3B 0 genome.wustl.edu 37 3 50314079 50314079 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 50314079 50314079 G A SNP SEMA3B ENST00000316347 human ensembl 74_37 +1 known rna NULL NULL 0.969 - - - no_errors SEMA3B HGNC ENSG00000012171 11 0 0 8 4 33.3333 MAPKAPK3 0 genome.wustl.edu 37 3 50679181 50679181 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 50679181 50679181 G A SNP MAPKAPK3 ENST00000357955 human ensembl 74_37 +1 known missense c.403 p.D135N 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAPKAPK3 HGNC ENSG00000114738 66 0 0 61 7 10.2941 DOCK3 0 genome.wustl.edu 37 3 51418570 51418570 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 51418570 51418570 C T SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known silent c.5673 p.S1891 0.540 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 69 0 0 52 15 22.3881 RAD54L2 0 genome.wustl.edu 37 3 51673538 51673538 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 51673538 51673538 C T SNP RAD54L2 ENST00000409535 human ensembl 74_37 +1 known missense c.1964 p.A655V 0.963 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC ENSG00000164080 65 0 0 53 6 10.1695 GRM2 0 genome.wustl.edu 37 3 51750038 51750038 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 51750038 51750038 G A SNP GRM2 ENST00000395052 human ensembl 74_37 +1 known missense c.2249 p.R750H 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_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC ENSG00000164082 70 0 0 56 18 24.3243 PCBP4 0 genome.wustl.edu 37 3 51993937 51993937 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 51993937 51993937 G A SNP PCBP4 ENST00000395014 human ensembl 74_37 -1 known missense c.553 p.R185C 0.998 smart_KH_dom pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP4 HGNC ENSG00000090097 91 0 0 59 8 11.9403 PCBP4 0 genome.wustl.edu 37 3 51995032 51995032 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 51995032 51995032 G A SNP PCBP4 ENST00000322099 human ensembl 74_37 -1 known silent c.99 p.I33 0.383 pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP4 HGNC ENSG00000090097 117 0 0 112 11 8.94309 ABHD14A 0 genome.wustl.edu 37 3 52014637 52014637 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 52014637 52014637 C T SNP ABHD14A ENST00000273596 human ensembl 74_37 +1 known missense c.626 p.A209V 0.068 NULL pfam_Lysophospholipase_put - no_errors ABHD14A HGNC ENSG00000248487 86 0 0 51 13 20.3125 ACY1 0 genome.wustl.edu 37 3 52022727 52022727 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 52022727 52022727 C T SNP ACY1 ENST00000490244 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ACY1 HGNC ENSG00000243989 191 0 0 135 38 21.9653 GLYCTK 0 genome.wustl.edu 37 3 52326603 52326603 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 52326603 52326603 G A SNP GLYCTK ENST00000436784 human ensembl 74_37 +1 known missense c.1033 p.A345T 0.995 NULL pfam_MOFRL - no_errors GLYCTK HGNC ENSG00000168237 56 0 0 32 9 21.9512 DNAH1 0 genome.wustl.edu 37 3 52392637 52392637 + Missense_Mutation SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 52392637 52392637 T A SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.4150 p.L1384M 0.868 pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 31 0 0 12 3 20 STAB1 0 genome.wustl.edu 37 3 52556909 52556909 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 52556909 52556909 G A SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.6863 p.R2288H 0.177 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 76 0 0 51 4 7.27273 ITIH3 0 genome.wustl.edu 37 3 52840399 52840399 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 52840399 52840399 G A SNP ITIH3 ENST00000449956 human ensembl 74_37 +1 known missense c.2033 p.R678H 1.000 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH3 HGNC ENSG00000162267 37 0 0 30 13 30.2326 ITIH4 0 genome.wustl.edu 37 3 52860646 52860646 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 52860646 52860646 G A SNP ITIH4 ENST00000266041 human ensembl 74_37 -1 known missense c.541 p.P181S 1.000 NULL pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH4 HGNC ENSG00000055955 52 0 0 53 4 7.01754 SFMBT1 0 genome.wustl.edu 37 3 52966139 52966139 + Missense_Mutation SNP A A T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 52966139 52966139 A T SNP SFMBT1 ENST00000358080 human ensembl 74_37 -1 known missense c.639 p.D213E 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT1 HGNC ENSG00000163935 87 0 0 66 7 9.58904 PRKCD 0 genome.wustl.edu 37 3 53222784 53222784 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 53222784 53222784 G T SNP PRKCD ENST00000330452 human ensembl 74_37 +1 known missense c.1464 p.K488N 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors PRKCD HGNC ENSG00000163932 100 0 0 51 19 27.1429 CACNA1D 0 genome.wustl.edu 37 3 53778828 53778828 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 53778828 53778828 G A SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known missense c.3040 p.A1014T 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 68 0 0 38 11 22.449 IL17RB 0 genome.wustl.edu 37 3 53899038 53899038 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 53899038 53899038 C T SNP IL17RB ENST00000288167 human ensembl 74_37 +1 known silent c.1212 p.C404 0.241 pfam_SEFIR pfam_SEFIR - no_errors IL17RB HGNC ENSG00000056736 48 0 0 34 15 30.6122 ACTR8 0 genome.wustl.edu 37 3 53905304 53905304 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 53905304 53905304 C T SNP ACTR8 ENST00000335754 human ensembl 74_37 -1 known missense c.1522 p.A508T 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR8 HGNC ENSG00000113812 117 0 0 98 7 6.66667 CACNA2D3 0 genome.wustl.edu 37 3 54922046 54922046 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 54922046 54922046 C T SNP CACNA2D3 ENST00000288197 human ensembl 74_37 +1 known missense c.2117 p.A706V 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 104 0 0 78 6 7.14286 LRTM1 0 genome.wustl.edu 37 3 54952504 54952504 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 54952504 54952504 A G SNP LRTM1 ENST00000273286 human ensembl 74_37 -1 known silent c.1020 p.F340 0.351 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM1 HGNC ENSG00000144771 274 0 0 197 53 21.2 CACNA2D3 0 genome.wustl.edu 37 3 55038847 55038847 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 55038847 55038847 C T SNP CACNA2D3 ENST00000288197 human ensembl 74_37 +1 known silent c.2748 p.G916 0.001 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 70 0 0 53 27 33.75 FAM208A 0 genome.wustl.edu 37 3 56675649 56675649 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 56675649 56675649 G A SNP FAM208A ENST00000355628 human ensembl 74_37 -1 known missense c.2347 p.R783C 0.998 NULL pfam_DUF3715 - no_errors FAM208A HGNC ENSG00000163946 114 1 0.869565 90 9 9.09091 IL17RD 0 genome.wustl.edu 37 3 57136541 57136541 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 57136541 57136541 C T SNP IL17RD ENST00000296318 human ensembl 74_37 -1 known silent c.945 p.T315 0.058 NULL pfam_SEFIR,superfamily_TIR_dom - no_errors IL17RD HGNC ENSG00000144730 55 0 0 42 6 12.5 APPL1 0 genome.wustl.edu 37 3 57293966 57293966 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 57293966 57293966 G A SNP APPL1 ENST00000288266 human ensembl 74_37 +1 known missense c.1577 p.R526H 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom - no_errors APPL1 HGNC ENSG00000157500 54 0 0 56 11 16.4179 FLNB 0 genome.wustl.edu 37 3 58129201 58129201 + Silent SNP A A T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 58129201 58129201 A T SNP FLNB ENST00000295956 human ensembl 74_37 +1 known silent c.5286 p.G1762 0.358 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 FLNB HGNC ENSG00000136068 59 0 0 37 10 21.2766 FEZF2 0 genome.wustl.edu 37 3 62355881 62355881 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 62355881 62355881 G A SNP FEZF2 ENST00000283268 human ensembl 74_37 -1 known silent c.1257 p.C419 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF2 HGNC ENSG00000153266 176 0 0 113 37 24.6667 FEZF2 0 genome.wustl.edu 37 3 62355985 62355985 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 62355985 62355985 C A SNP FEZF2 ENST00000283268 human ensembl 74_37 -1 known missense c.1153 p.G385C 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF2 HGNC ENSG00000153266 150 0 0 93 29 23.7705 ATXN7 0 genome.wustl.edu 37 3 63965619 63965619 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 63965619 63965619 G A SNP ATXN7 ENST00000398590 human ensembl 74_37 +1 known silent c.528 p.P176 0.002 NULL pfam_SCA7_dom - no_errors ATXN7 HGNC ENSG00000163635 98 0 0 85 23 21.2963 ATXN7 0 genome.wustl.edu 37 3 63975975 63975975 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 63975975 63975975 C T SNP ATXN7 ENST00000398590 human ensembl 74_37 +1 known silent c.1485 p.G495 1.000 NULL pfam_SCA7_dom - no_errors ATXN7 HGNC ENSG00000163635 71 0 0 36 12 25 PRICKLE2 0 genome.wustl.edu 37 3 64084813 64084813 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 64084813 64084813 C A SNP PRICKLE2 ENST00000295902 human ensembl 74_37 -1 known missense c.2449 p.G817C 0.968 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE2 HGNC ENSG00000163637 90 0 0 65 15 18.75 PRICKLE2 0 genome.wustl.edu 37 3 64084864 64084864 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 64084864 64084864 G A SNP PRICKLE2 ENST00000295902 human ensembl 74_37 -1 known missense c.2398 p.R800C 1.000 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE2 HGNC ENSG00000163637 63 0 0 48 5 9.43396 ADAMTS9 0 genome.wustl.edu 37 3 64641547 64641547 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 64641547 64641547 G A SNP ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known missense c.974 p.A325V 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 66 0 0 35 13 27.0833 MAGI1 0 genome.wustl.edu 37 3 65342481 65342481 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 65342481 65342481 G A SNP MAGI1 ENST00000402939 human ensembl 74_37 -1 known missense c.3961 p.R1321W 0.003 NULL pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI1 HGNC ENSG00000151276 28 0 0 16 6 27.2727 MAGI1 0 genome.wustl.edu 37 3 65415516 65415516 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 65415516 65415516 C T SNP MAGI1 ENST00000402939 human ensembl 74_37 -1 known missense c.1846 p.V616M 0.975 superfamily_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 MAGI1 HGNC ENSG00000151276 66 0 0 47 11 18.9655 GRM7 0 genome.wustl.edu 37 3 7188283 7188283 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 7188283 7188283 T C SNP GRM7 ENST00000402647 human ensembl 74_37 +1 known missense c.664 p.S222P 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,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_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 103 0 0 65 26 28.5714 PDZRN3 0 genome.wustl.edu 37 3 73453360 73453360 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 73453360 73453360 C T SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known missense c.1105 p.A369T 1.000 NULL pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 95 0 0 70 8 10.2564 CNTN3 0 genome.wustl.edu 37 3 74334502 74334502 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 74334502 74334502 G A SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known silent c.2658 p.G886 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 169 0 0 97 28 22.4 ROBO2 0 genome.wustl.edu 37 3 77693990 77693990 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 77693990 77693990 C T SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known missense c.4070 p.A1357V 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 74 0 0 50 18 26.4706 SSUH2 0 genome.wustl.edu 37 3 8667298 8667298 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 8667298 8667298 C T SNP SSUH2 ENST00000544814 human ensembl 74_37 -1 known missense c.803 p.R268Q 0.004 NULL superfamily_HSP_DnaJ_Cys-rich_dom - no_errors SSUH2 HGNC ENSG00000125046 69 0 0 29 13 30.9524 CGGBP1 0 genome.wustl.edu 37 3 88104713 88104713 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 88104713 88104713 G A SNP CGGBP1 ENST00000309534 human ensembl 74_37 -1 known silent c.414 p.G138 1.000 NULL NULL - no_errors CGGBP1 HGNC ENSG00000163320 91 0 0 74 18 19.5652 EPHA3 0 genome.wustl.edu 37 3 89259600 89259600 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 89259600 89259600 C T SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known silent c.744 p.G248 0.000 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA3 HGNC ENSG00000044524 323 0 0 214 73 25.4355 NSUN3 0 genome.wustl.edu 37 3 93803031 93803031 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 93803031 93803031 A G SNP NSUN3 ENST00000314622 human ensembl 74_37 +1 known missense c.203 p.D68G 0.624 NULL pfam_Fmu/NOL1/Nop2p,prints_RCMT - no_errors NSUN3 HGNC ENSG00000178694 100 0 0 61 30 32.967 SETD5 0 genome.wustl.edu 37 3 9476021 9476021 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 9476021 9476021 A G SNP SETD5 ENST00000402198 human ensembl 74_37 +1 known missense c.181 p.I61V 1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SETD5 HGNC ENSG00000168137 71 0 0 43 17 28.3333 LHFPL4 0 genome.wustl.edu 37 3 9547876 9547876 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 9547876 9547876 C T SNP LHFPL4 ENST00000287585 human ensembl 74_37 -1 known missense c.418 p.V140I 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL4 HGNC ENSG00000156959 50 0 0 30 12 28.5714 LHFPL4 0 genome.wustl.edu 37 3 9594078 9594078 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 9594078 9594078 C T SNP LHFPL4 ENST00000287585 human ensembl 74_37 -1 known missense c.286 p.A96T 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL4 HGNC ENSG00000156959 41 0 0 20 7 25.9259 EPHA6 0 genome.wustl.edu 37 3 96706649 96706649 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 96706649 96706649 C T SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known missense c.926 p.A309V 1.000 NULL 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,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 225 0 0 195 11 5.33981 MINA 0 genome.wustl.edu 37 3 97686148 97686148 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 97686148 97686148 C T SNP MINA ENST00000333396 human ensembl 74_37 -1 known missense c.290 p.G97E 1.000 pfam_JmjC_dom pfam_JmjC_dom,pfscan_JmjC_dom - no_errors MINA HGNC ENSG00000170854 349 0 0 213 82 27.7966 TTLL3 0 genome.wustl.edu 37 3 9857762 9857762 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 9857762 9857762 G A SNP TTLL3 ENST00000427220 human ensembl 74_37 +1 known missense c.320 p.R107H 1.000 NULL superfamily_Scorpion_toxin-like - no_errors TTLL3 HGNC ENSG00000214021 13 0 0 12 5 29.4118 CRELD1 0 genome.wustl.edu 37 3 9982689 9982689 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 9982689 9982689 G A SNP CRELD1 ENST00000326434 human ensembl 74_37 +1 known missense c.616 p.A206T 0.932 superfamily_Growth_fac_rcpt_N_dom pfam_DUF3456,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_Furin_repeat,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors CRELD1 HGNC ENSG00000163703 38 0 0 24 13 35.1351 MTTP 0 genome.wustl.edu 37 4 100529984 100529984 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 100529984 100529984 G A SNP MTTP ENST00000265517 human ensembl 74_37 +1 known missense c.1619 p.R540H 1.000 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors MTTP HGNC ENSG00000138823 97 0 0 78 36 31.5789 PPP3CA 0 genome.wustl.edu 37 4 101947170 101947170 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 101947170 101947170 G T SNP PPP3CA ENST00000394854 human ensembl 74_37 -1 known missense c.1418 p.A473D 1.000 NULL pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CA HGNC ENSG00000138814 131 0 0 107 40 27.2109 SLC39A8 0 genome.wustl.edu 37 4 103228683 103228683 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 103228683 103228683 C A SNP SLC39A8 ENST00000356736 human ensembl 74_37 -1 known missense c.462 p.K154N 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A8 HGNC ENSG00000138821 233 0 0 141 82 36.7713 UBE2D3 0 genome.wustl.edu 37 4 103789880 103789880 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 103789880 103789880 G T SNP UBE2D3 ENST00000357194 human ensembl 74_37 -1 known missense c.22 p.L8I 0.965 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2D3 HGNC ENSG00000109332 149 0 0 114 31 21.3793 CENPE 0 genome.wustl.edu 37 4 104067167 104067167 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 104067167 104067167 G T SNP CENPE ENST00000265148 human ensembl 74_37 -1 known missense c.4232 p.P1411H 0.092 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 141 0 0 82 27 24.7706 TACR3 0 genome.wustl.edu 37 4 104640294 104640294 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 104640294 104640294 G A SNP TACR3 ENST00000304883 human ensembl 74_37 -1 known missense c.539 p.A180V 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt - no_errors TACR3 HGNC ENSG00000169836 47 0 0 36 18 33.3333 TACR3 0 genome.wustl.edu 37 4 104640738 104640738 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 104640738 104640738 G A SNP TACR3 ENST00000304883 human ensembl 74_37 -1 known missense c.95 p.A32V 0.030 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt - no_errors TACR3 HGNC ENSG00000169836 19 0 0 22 7 24.1379 ARHGEF38 0 genome.wustl.edu 37 4 106566427 106566427 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 106566427 106566427 G A SNP ARHGEF38 ENST00000420470 human ensembl 74_37 +1 putative missense c.757 p.E253K 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF38 HGNC ENSG00000236699 37 0 0 23 11 32.3529 GSTCD 0 genome.wustl.edu 37 4 106639056 106639056 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 106639056 106639056 C T SNP GSTCD ENST00000360505 human ensembl 74_37 +1 known nonsense c.286 p.R96* 0.023 NULL pfam_rRNA_ssu_MeTfrase_G,pfam_Small_mtfrase_dom,superfamily_Glutathione-S-Trfase_C-like - no_errors GSTCD HGNC ENSG00000138780 146 0 0 123 9 6.81818 TBCK 0 genome.wustl.edu 37 4 107154146 107154146 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 107154146 107154146 G A SNP TBCK ENST00000273980 human ensembl 74_37 -1 known missense c.1588 p.R530C 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_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rhodanese-like_dom,superfamily_Kinase-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Rab-GTPase-TBC_dom,smart_Rhodanese-like_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Prot_kinase_dom,pfscan_Rhodanese-like_dom - no_errors TBCK HGNC ENSG00000145348 144 0 0 99 37 27.2059 CYP2U1 0 genome.wustl.edu 37 4 108871478 108871478 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 108871478 108871478 G A SNP CYP2U1 ENST00000332884 human ensembl 74_37 +1 known missense c.1534 p.A512T 0.067 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_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like - no_errors CYP2U1 HGNC ENSG00000155016 103 0 0 80 5 5.88235 ETNPPL 0 genome.wustl.edu 37 4 109663750 109663750 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 109663750 109663750 T C SNP ETNPPL ENST00000296486 human ensembl 74_37 -1 known missense c.1390 p.I464V 0.000 NULL pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors ETNPPL HGNC ENSG00000164089 101 0 0 70 21 23.0769 ETNPPL 0 genome.wustl.edu 37 4 109681385 109681385 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 109681385 109681385 T C SNP ETNPPL ENST00000296486 human ensembl 74_37 -1 known missense c.134 p.N45S 0.962 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors ETNPPL HGNC ENSG00000164089 125 0 0 88 31 26.0504 COL25A1 0 genome.wustl.edu 37 4 109858963 109858963 + Splice_Site SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 109858963 109858963 C T SNP COL25A1 ENST00000399132 human ensembl 74_37 -1 known splice_site c.708+1 e10+1 1.000 - - - no_errors COL25A1 HGNC ENSG00000188517 78 0 0 63 18 22.2222 SEC24B 0 genome.wustl.edu 37 4 110442692 110442692 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 110442692 110442692 C T SNP SEC24B ENST00000265175 human ensembl 74_37 +1 known silent c.2418 p.G806 1.000 pfam_Sec23/24_trunk_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24B HGNC ENSG00000138802 59 0 0 37 17 31.4815 ENPEP 0 genome.wustl.edu 37 4 111397641 111397641 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 111397641 111397641 C T SNP ENPEP ENST00000265162 human ensembl 74_37 +1 known missense c.71 p.A24V 0.014 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 136 1 0.729927 82 32 28.0702 ENPEP 0 genome.wustl.edu 37 4 111434596 111434596 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 111434596 111434596 T C SNP ENPEP ENST00000265162 human ensembl 74_37 +1 known missense c.1334 p.V445A 0.998 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 141 0 0 126 7 5.26316 ENPEP 0 genome.wustl.edu 37 4 111470515 111470515 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 111470515 111470515 G A SNP ENPEP ENST00000265162 human ensembl 74_37 +1 known missense c.2165 p.G722D 0.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 51 0 0 58 6 9.375 AP1AR 0 genome.wustl.edu 37 4 113174397 113174397 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 113174397 113174397 G A SNP AP1AR ENST00000274000 human ensembl 74_37 +1 known silent c.117 p.E39 1.000 NULL NULL - no_errors AP1AR HGNC ENSG00000138660 80 0 0 56 6 9.67742 HS3ST1 0 genome.wustl.edu 37 4 11401090 11401090 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 11401090 11401090 G A SNP HS3ST1 ENST00000002596 human ensembl 74_37 -1 known silent c.540 p.R180 0.047 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST1 HGNC ENSG00000002587 38 0 0 32 23 41.8182 HS3ST1 0 genome.wustl.edu 37 4 11401252 11401252 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 11401252 11401252 C T SNP HS3ST1 ENST00000002596 human ensembl 74_37 -1 known silent c.378 p.S126 0.988 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST1 HGNC ENSG00000002587 61 0 0 30 9 23.0769 ANK2 0 genome.wustl.edu 37 4 114278694 114278694 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 114278694 114278694 G A SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.8920 p.A2974T 0.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 250 0 0 188 16 7.84314 ANK2 0 genome.wustl.edu 37 4 114278954 114278954 + Missense_Mutation SNP A A C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 114278954 114278954 A C SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.9180 p.K3060N 0.999 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 96 0 0 59 30 33.7079 UGT8 0 genome.wustl.edu 37 4 115544223 115544223 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 115544223 115544223 G A SNP UGT8 ENST00000310836 human ensembl 74_37 +1 known missense c.187 p.A63T 0.684 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT8 HGNC ENSG00000174607 67 0 0 52 17 24.6377 NDST4 0 genome.wustl.edu 37 4 115997904 115997904 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 115997904 115997904 C T SNP NDST4 ENST00000264363 human ensembl 74_37 -1 known missense c.289 p.A97T 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST4 HGNC ENSG00000138653 101 0 0 53 20 27.3973 SNHG8 0 genome.wustl.edu 37 4 119200261 119200261 + Splice_Site SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 119200261 119200261 G A SNP SNHG8 ENST00000602483 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.010 - - - no_errors SNHG8 HGNC ENSG00000269893 37 0 0 16 11 40.7407 NDNF 0 genome.wustl.edu 37 4 121958554 121958554 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 121958554 121958554 G A SNP NDNF ENST00000379692 human ensembl 74_37 -1 known missense c.572 p.T191M 1.000 pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors NDNF HGNC ENSG00000173376 106 0 0 108 8 6.89655 QRFPR 0 genome.wustl.edu 37 4 122257980 122257980 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 122257980 122257980 C T SNP QRFPR ENST00000394427 human ensembl 74_37 -1 known nonsense c.543 p.W181* 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors QRFPR HGNC ENSG00000186867 339 0 0 266 18 6.33803 QRFPR 0 genome.wustl.edu 37 4 122301573 122301573 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 122301573 122301573 C T SNP QRFPR ENST00000394427 human ensembl 74_37 -1 known missense c.230 p.R77H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors QRFPR HGNC ENSG00000186867 62 0 0 40 20 33.3333 TRPC3 0 genome.wustl.edu 37 4 122853627 122853627 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 122853627 122853627 C T SNP TRPC3 ENST00000379645 human ensembl 74_37 -1 known silent c.786 p.P262 0.978 superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 41 0 0 24 6 20 KIAA1109 0 genome.wustl.edu 37 4 123140711 123140711 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 123140711 123140711 C T SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.2464 p.R822C 0.998 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 85 0 0 50 22 30.5556 KIAA1109 0 genome.wustl.edu 37 4 123161120 123161120 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 123161120 123161120 A G SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.4283 p.Y1428C 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 85 0 0 71 5 6.57895 FAT4 0 genome.wustl.edu 37 4 126237960 126237960 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 126237960 126237960 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.394 p.A132T 1.000 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 23 0 0 11 5 31.25 FAT4 0 genome.wustl.edu 37 4 126238572 126238572 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 126238572 126238572 C T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.1006 p.R336C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_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 43 0 0 30 11 26.8293 FAT4 0 genome.wustl.edu 37 4 126240523 126240523 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 126240523 126240523 T C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.2957 p.V986A 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_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 96 0 0 66 7 9.58904 FAT4 0 genome.wustl.edu 37 4 126242112 126242112 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 126242112 126242112 A G SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.4546 p.T1516A 1.000 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 199 0 0 163 11 6.32184 FAT4 0 genome.wustl.edu 37 4 126242602 126242602 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 126242602 126242602 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.5036 p.R1679H 1.000 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 127 0 0 81 32 28.3186 FAT4 0 genome.wustl.edu 37 4 126369981 126369981 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 126369981 126369981 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.7810 p.A2604T 1.000 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 31 0 0 26 6 18.75 FAT4 0 genome.wustl.edu 37 4 126411605 126411605 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 126411605 126411605 C A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.13628 p.P4543Q 0.897 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 162 0 0 111 12 9.7561 FAT4 0 genome.wustl.edu 37 4 126412402 126412402 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 126412402 126412402 G T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.14425 p.D4809Y 1.000 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 93 0 0 59 7 10.6061 SCLT1 0 genome.wustl.edu 37 4 129880822 129880822 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 129880822 129880822 T C SNP SCLT1 ENST00000281142 human ensembl 74_37 -1 known missense c.980 p.Y327C 0.991 NULL NULL - no_errors SCLT1 HGNC ENSG00000151466 72 0 0 46 12 20.6897 MAEA 0 genome.wustl.edu 37 4 1326598 1326598 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 1326598 1326598 G A SNP MAEA ENST00000303400 human ensembl 74_37 +1 known missense c.710 p.R237H 1.000 smart_CRA_dom smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors MAEA HGNC ENSG00000090316 17 0 0 19 5 20.8333 MAEA 0 genome.wustl.edu 37 4 1333033 1333033 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 1333033 1333033 G A SNP MAEA ENST00000512289 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MAEA HGNC ENSG00000090316 21 0 0 6 4 40 PCDH10 0 genome.wustl.edu 37 4 134072314 134072314 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 134072314 134072314 C T SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.1019 p.A340V 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 PCDH10 HGNC ENSG00000138650 77 0 0 73 23 23.9583 PCDH10 0 genome.wustl.edu 37 4 134073044 134073044 + Silent SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 134073044 134073044 G T SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known silent c.1749 p.G583 1.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 34 0 0 18 5 21.7391 PCDH10 0 genome.wustl.edu 37 4 134073220 134073220 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 134073220 134073220 G A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.1925 p.R642H 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 PCDH10 HGNC ENSG00000138650 40 0 0 20 5 20 PCDH10 0 genome.wustl.edu 37 4 134073864 134073864 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 134073864 134073864 G A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.2569 p.V857I 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 54 0 0 29 12 29.2683 UVSSA 0 genome.wustl.edu 37 4 1347064 1347064 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 1347064 1347064 C T SNP UVSSA ENST00000389851 human ensembl 74_37 +1 known missense c.797 p.A266V 0.000 NULL pfam_DUF2043,superfamily_ENTH_VHS - no_errors UVSSA HGNC ENSG00000163945 21 0 0 11 5 31.25 BOD1L1 0 genome.wustl.edu 37 4 13603266 13603266 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 13603266 13603266 C T SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known missense c.5258 p.R1753H 0.002 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 224 0 0 160 55 25.5814 BOD1L1 0 genome.wustl.edu 37 4 13603592 13603592 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 13603592 13603592 G A SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known silent c.4932 p.S1644 0.001 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 219 0 0 153 45 22.7273 PCDH18 0 genome.wustl.edu 37 4 138452423 138452423 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 138452423 138452423 C T SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known missense c.820 p.D274N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 107 0 0 66 7 9.58904 CRIPAK 0 genome.wustl.edu 37 4 1389402 1389402 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 1389402 1389402 C T SNP CRIPAK ENST00000324803 human ensembl 74_37 +1 known missense c.1103 p.A368V 0.009 NULL smart_Post-SET_dom - no_errors CRIPAK HGNC ENSG00000179979 229 1 0.434783 154 35 18.5185 NAA15 0 genome.wustl.edu 37 4 140262203 140262203 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 140262203 140262203 C T SNP NAA15 ENST00000296543 human ensembl 74_37 +1 known nonsense c.382 p.R128* 1.000 pirsf_NatA_aux_su,pfscan_TPR-contain_dom pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC ENSG00000164134 100 0 0 93 8 7.92079 NAA15 0 genome.wustl.edu 37 4 140264015 140264015 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 140264015 140264015 G A SNP NAA15 ENST00000296543 human ensembl 74_37 +1 known silent c.438 p.A146 0.849 pirsf_NatA_aux_su,pfscan_TPR-contain_dom pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC ENSG00000164134 137 0 0 124 7 5.34351 MAML3 0 genome.wustl.edu 37 4 140640939 140640939 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 140640939 140640939 G A SNP MAML3 ENST00000509479 human ensembl 74_37 -1 known silent c.2955 p.G985 0.570 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 35 0 0 28 4 12.5 RNF150 0 genome.wustl.edu 37 4 141888992 141888992 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 141888992 141888992 G A SNP RNF150 ENST00000515673 human ensembl 74_37 -1 known missense c.520 p.P174S 1.000 pfam_Protease-assoc_domain pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF150 HGNC ENSG00000170153 127 0 0 104 6 5.45455 GAB1 0 genome.wustl.edu 37 4 144359168 144359168 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 144359168 144359168 G A SNP GAB1 ENST00000262995 human ensembl 74_37 +1 known missense c.610 p.A204T 0.998 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB1 HGNC ENSG00000109458 98 0 0 52 18 25.7143 HHIP 0 genome.wustl.edu 37 4 145659003 145659003 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 145659003 145659003 G A SNP HHIP ENST00000296575 human ensembl 74_37 +1 known missense c.1997 p.C666Y 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HHIP HGNC ENSG00000164161 106 0 0 86 8 8.51064 SMAD1 0 genome.wustl.edu 37 4 146461063 146461063 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 146461063 146461063 G A SNP SMAD1 ENST00000302085 human ensembl 74_37 +1 known missense c.508 p.A170T 1.000 NULL pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD1 HGNC ENSG00000170365 58 0 0 51 15 22.7273 POU4F2 0 genome.wustl.edu 37 4 147561859 147561859 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 147561859 147561859 G A SNP POU4F2 ENST00000281321 human ensembl 74_37 +1 known missense c.1129 p.A377T 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F2 HGNC ENSG00000151615 97 0 0 54 6 10 NR3C2 0 genome.wustl.edu 37 4 149075716 149075716 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 149075716 149075716 G A SNP NR3C2 ENST00000355292 human ensembl 74_37 -1 known missense c.2363 p.A788V 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core 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 187 0 0 104 40 27.7778 LRBA 0 genome.wustl.edu 37 4 151336636 151336636 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 151336636 151336636 G A SNP LRBA ENST00000357115 human ensembl 74_37 -1 known missense c.7181 p.P2394L 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 71 0 0 54 6 10 PET112 0 genome.wustl.edu 37 4 152679946 152679946 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 152679946 152679946 G A SNP PET112 ENST00000263985 human ensembl 74_37 -1 known missense c.305 p.A102V 1.000 pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,tigrfam_Apn/Gln-ADT_bsu pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Apn/Gln-ADT_bsu - no_errors PET112 HGNC ENSG00000059691 204 0 0 155 61 28.2407 PET112 0 genome.wustl.edu 37 4 152682034 152682034 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 152682034 152682034 G A SNP PET112 ENST00000263985 human ensembl 74_37 -1 known missense c.101 p.S34F 0.002 NULL pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Apn/Gln-ADT_bsu - no_errors PET112 HGNC ENSG00000059691 37 0 0 30 10 25 TRIM2 0 genome.wustl.edu 37 4 154215584 154215584 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 154215584 154215584 C T SNP TRIM2 ENST00000338700 human ensembl 74_37 +1 known missense c.733 p.R245C 1.000 smart_Bbox_C pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM2 HGNC ENSG00000109654 83 0 0 90 6 6.25 PLRG1 0 genome.wustl.edu 37 4 155460278 155460278 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 155460278 155460278 G T SNP PLRG1 ENST00000393905 human ensembl 74_37 -1 known missense c.1130 p.A377D 1.000 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,prints_G-protein_beta_WD-40_rep - no_errors PLRG1 HGNC ENSG00000171566 119 0 0 76 14 15.5556 LRAT 0 genome.wustl.edu 37 4 155665742 155665742 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 155665742 155665742 G A SNP LRAT ENST00000336356 human ensembl 74_37 +1 known silent c.264 p.T88 0.090 NULL pfam_LRAT-like_dom - no_errors LRAT HGNC ENSG00000121207 32 0 0 15 7 31.8182 GUCY1A3 0 genome.wustl.edu 37 4 156618218 156618218 + Missense_Mutation SNP A A C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 156618218 156618218 A C SNP GUCY1A3 ENST00000296518 human ensembl 74_37 +1 known missense c.199 p.S67R 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 127 0 0 102 8 7.27273 GRIA2 0 genome.wustl.edu 37 4 158254497 158254497 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 158254497 158254497 C T SNP GRIA2 ENST00000264426 human ensembl 74_37 +1 known missense c.1147 p.P383S 1.000 superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA2 HGNC ENSG00000120251 34 0 0 26 8 23.5294 FNIP2 0 genome.wustl.edu 37 4 159789517 159789517 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 159789517 159789517 G A SNP FNIP2 ENST00000379346 human ensembl 74_37 +1 known missense c.1798 p.A600T 1.000 NULL NULL - no_errors FNIP2 HGNC ENSG00000052795 88 0 0 62 15 19.4805 FNIP2 0 genome.wustl.edu 37 4 159789546 159789546 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 159789546 159789546 A G SNP FNIP2 ENST00000379346 human ensembl 74_37 +1 known silent c.1827 p.T609 0.000 NULL NULL - no_errors FNIP2 HGNC ENSG00000052795 89 0 0 47 24 33.8028 RAPGEF2 0 genome.wustl.edu 37 4 160265202 160265202 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 160265202 160265202 G A SNP RAPGEF2 ENST00000264431 human ensembl 74_37 +1 known missense c.2786 p.R929Q 1.000 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF2 HGNC ENSG00000109756 83 0 0 69 29 29.5918 RAPGEF2 0 genome.wustl.edu 37 4 160275010 160275010 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 160275010 160275010 C T SNP RAPGEF2 ENST00000264431 human ensembl 74_37 +1 known missense c.3980 p.A1327V 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF2 HGNC ENSG00000109756 102 0 0 69 6 8 TAPT1-AS1 0 genome.wustl.edu 37 4 16258210 16258210 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 16258210 16258210 G A SNP TAPT1-AS1 ENST00000570786 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors TAPT1-AS1 HGNC ENSG00000263327 17 0 0 8 8 50 FSTL5 0 genome.wustl.edu 37 4 163032431 163032431 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 163032431 163032431 G A SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known nonsense c.118 p.R40* 0.999 NULL pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 134 0 0 89 30 25.2101 TKTL2 0 genome.wustl.edu 37 4 164393491 164393491 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 164393491 164393491 C T SNP TKTL2 ENST00000280605 human ensembl 74_37 -1 known missense c.1396 p.A466T 1.000 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL2 HGNC ENSG00000151005 127 1 0.78125 111 11 9.01639 TKTL2 0 genome.wustl.edu 37 4 164393888 164393888 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 164393888 164393888 G A SNP TKTL2 ENST00000280605 human ensembl 74_37 -1 known silent c.999 p.G333 0.124 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL2 HGNC ENSG00000151005 161 0 0 105 24 18.6047 TKTL2 0 genome.wustl.edu 37 4 164394215 164394215 + Silent SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 164394215 164394215 G T SNP TKTL2 ENST00000280605 human ensembl 74_37 -1 known silent c.672 p.A224 0.153 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 TKTL2 HGNC ENSG00000151005 106 0 0 57 16 21.9178 TMA16 0 genome.wustl.edu 37 4 164435266 164435266 + Missense_Mutation SNP A A C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 164435266 164435266 A C SNP TMA16 ENST00000358572 human ensembl 74_37 +1 known missense c.195 p.Q65H 0.361 pfam_Tma16 pfam_Tma16 - no_errors TMA16 HGNC ENSG00000198498 78 0 0 84 6 6.66667 TRIM60 0 genome.wustl.edu 37 4 165962417 165962417 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 165962417 165962417 C T SNP TRIM60 ENST00000341062 human ensembl 74_37 +1 known missense c.1193 p.A398V 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM60 HGNC ENSG00000176979 108 0 0 109 8 6.83761 PALLD 0 genome.wustl.edu 37 4 169433100 169433100 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 169433100 169433100 A G SNP PALLD ENST00000261509 human ensembl 74_37 +1 known missense c.445 p.S149G 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PALLD HGNC ENSG00000129116 76 0 0 50 20 28.5714 MFAP3L 0 genome.wustl.edu 37 4 170913308 170913308 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 170913308 170913308 C T SNP MFAP3L ENST00000361618 human ensembl 74_37 -1 known missense c.451 p.V151I 0.997 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MFAP3L HGNC ENSG00000198948 100 0 0 69 18 20.6897 LAP3 0 genome.wustl.edu 37 4 17586688 17586688 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 17586688 17586688 G A SNP LAP3 ENST00000226299 human ensembl 74_37 +1 known silent c.633 p.T211 0.961 pfam_Peptidase_M17_C pfam_Peptidase_M17_C,pfam_Peptidase_M17_N,prints_Leucine_aapep/pepB - no_errors LAP3 HGNC ENSG00000002549 151 0 0 112 8 6.66667 WDR17 0 genome.wustl.edu 37 4 177041100 177041100 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 177041100 177041100 G A SNP WDR17 ENST00000280190 human ensembl 74_37 +1 known nonsense c.462 p.W154* 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC ENSG00000150627 153 0 0 110 30 21.4286 ASB5 0 genome.wustl.edu 37 4 177136833 177136833 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 177136833 177136833 C T SNP ASB5 ENST00000296525 human ensembl 74_37 -1 known missense c.908 p.S303N 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,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB5 HGNC ENSG00000164122 67 0 0 44 17 27.8689 NEIL3 0 genome.wustl.edu 37 4 178283618 178283618 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 178283618 178283618 G A SNP NEIL3 ENST00000264596 human ensembl 74_37 +1 known missense c.1811 p.G604E 1.000 NULL pfam_Znf_GRF,pfam_DNA_glyclase/AP_lyase_DNA-bd,pfam_Znf_RanBP2,superfamily_Ribosomal_S13-like_H2TH,superfamily_DNA_glycosylase/AP_lyase_cat,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_Znf_DNA_glyclase/AP_lyase,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL3 HGNC ENSG00000109674 61 0 0 41 4 8.88889 TENM3 0 genome.wustl.edu 37 4 183245190 183245190 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 183245190 183245190 G A SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.17 p.R6H 0.993 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 37 0 0 23 10 30.303 TENM3 0 genome.wustl.edu 37 4 183603050 183603050 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 183603050 183603050 A G SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.1918 p.N640D 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 36 0 0 39 6 13.3333 RWDD4 0 genome.wustl.edu 37 4 184567670 184567670 + Missense_Mutation SNP G G C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 184567670 184567670 G C SNP RWDD4 ENST00000326397 human ensembl 74_37 -1 known missense c.502 p.R168G 1.000 NULL pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain - no_errors RWDD4 HGNC ENSG00000182552 107 0 0 127 12 8.63309 ENPP6 0 genome.wustl.edu 37 4 185039015 185039015 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 185039015 185039015 C T SNP ENPP6 ENST00000296741 human ensembl 74_37 -1 known missense c.572 p.R191H 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ENPP6 HGNC ENSG00000164303 45 0 0 33 8 19.5122 IRF2 0 genome.wustl.edu 37 4 185339814 185339814 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 185339814 185339814 G A SNP IRF2 ENST00000393593 human ensembl 74_37 -1 known missense c.236 p.A79V 1.000 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF2 HGNC ENSG00000168310 59 0 0 32 16 33.3333 HELT 0 genome.wustl.edu 37 4 185941873 185941873 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 185941873 185941873 G A SNP HELT ENST00000338875 human ensembl 74_37 +1 known missense c.931 p.A311T 0.851 NULL pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_Orange,pfscan_bHLH_dom - no_errors HELT HGNC ENSG00000187821 22 0 0 15 3 16.6667 LRP2BP 0 genome.wustl.edu 37 4 186288347 186288347 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 186288347 186288347 C T SNP LRP2BP ENST00000362004 human ensembl 74_37 -1 known missense c.1037 p.R346H 0.003 NULL pfam_Sel1-like,pfam_TPR_2,smart_Sel1-like,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors LRP2BP HGNC ENSG00000109771 179 0 0 131 42 24.2775 PDLIM3 0 genome.wustl.edu 37 4 186446177 186446177 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 186446177 186446177 T C SNP PDLIM3 ENST00000284770 human ensembl 74_37 -1 known missense c.242 p.D81G 1.000 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM3 HGNC ENSG00000154553 135 0 0 119 8 6.29921 FAM149A 0 genome.wustl.edu 37 4 187086544 187086544 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 187086544 187086544 C T SNP FAM149A ENST00000356371 human ensembl 74_37 +1 known missense c.1963 p.R655W 0.038 NULL pfam_DUF3719 - no_errors FAM149A HGNC ENSG00000109794 58 0 0 47 16 25.3968 CYP4V2 0 genome.wustl.edu 37 4 187120119 187120119 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 187120119 187120119 A G SNP CYP4V2 ENST00000378802 human ensembl 74_37 +1 known missense c.683 p.E228G 0.994 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 CYP4V2 HGNC ENSG00000145476 102 0 0 66 24 26.6667 KLKB1 0 genome.wustl.edu 37 4 187172953 187172953 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 187172953 187172953 C T SNP KLKB1 ENST00000264690 human ensembl 74_37 +1 known missense c.1082 p.A361V 0.266 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 167 0 0 98 23 19.0083 FAT1 0 genome.wustl.edu 37 4 187540638 187540638 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 187540638 187540638 G A SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.7102 p.P2368S 1.000 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_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 121 0 0 74 31 29.5238 FAT1 0 genome.wustl.edu 37 4 187540995 187540995 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 187540995 187540995 C T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.6745 p.A2249T 0.999 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_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 191 0 0 138 13 8.60927 FAT1 0 genome.wustl.edu 37 4 187630114 187630114 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 187630114 187630114 C T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.868 p.A290T 1.000 superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 382 0 0 356 27 7.04961 SLIT2 0 genome.wustl.edu 37 4 20597356 20597356 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 20597356 20597356 C T SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known silent c.3219 p.C1073 0.965 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 231 0 0 161 48 22.9665 PI4K2B 0 genome.wustl.edu 37 4 25270822 25270822 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 25270822 25270822 T C SNP PI4K2B ENST00000264864 human ensembl 74_37 +1 known silent c.1269 p.G423 0.857 pfam_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom - no_errors PI4K2B HGNC ENSG00000038210 87 0 0 88 7 7.36842 RBPJ 0 genome.wustl.edu 37 4 26407807 26407807 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 26407807 26407807 C T SNP RBPJ ENST00000342295 human ensembl 74_37 +1 known nonsense c.109 p.R37* 1.000 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 111 0 0 57 14 19.7183 RBPJ 0 genome.wustl.edu 37 4 26431567 26431567 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 26431567 26431567 C T SNP RBPJ ENST00000342295 human ensembl 74_37 +1 known silent c.975 p.G325 0.061 pfam_Beta-trefoil_DNA-bd_dom,superfamily_Beta-trefoil_DNA-bd_dom pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,pfam_IPT,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJ HGNC ENSG00000168214 70 0 0 52 14 21.2121 STIM2 0 genome.wustl.edu 37 4 27019446 27019446 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 27019446 27019446 G A SNP STIM2 ENST00000382009 human ensembl 74_37 +1 known missense c.1888 p.A630T 0.028 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,pfscan_SAM - no_errors STIM2 HGNC ENSG00000109689 191 1 0.520833 109 38 25.8503 TNIP2 0 genome.wustl.edu 37 4 2746482 2746482 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 2746482 2746482 G A SNP TNIP2 ENST00000315423 human ensembl 74_37 -1 known missense c.848 p.A283V 0.956 NULL pfam_EABR - no_errors TNIP2 HGNC ENSG00000168884 38 0 0 29 17 36.9565 MFSD10 0 genome.wustl.edu 37 4 2933648 2933648 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 2933648 2933648 C T SNP MFSD10 ENST00000329687 human ensembl 74_37 -1 known missense c.818 p.R273H 0.935 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD10 HGNC ENSG00000109736 12 0 0 8 4 33.3333 MFSD10 0 genome.wustl.edu 37 4 2933868 2933868 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 2933868 2933868 C T SNP MFSD10 ENST00000329687 human ensembl 74_37 -1 known missense c.706 p.A236T 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD10 HGNC ENSG00000109736 10 0 0 4 4 50 MFSD10 0 genome.wustl.edu 37 4 2934476 2934476 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 2934476 2934476 C T SNP MFSD10 ENST00000329687 human ensembl 74_37 -1 known missense c.382 p.A128T 0.991 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD10 HGNC ENSG00000109736 26 0 0 16 5 23.8095 PCDH7 0 genome.wustl.edu 37 4 30723444 30723444 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 30723444 30723444 C T SNP PCDH7 ENST00000543491 human ensembl 74_37 +1 known missense c.400 p.L134F 0.995 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 24 0 0 8 6 42.8571 PCDH7 0 genome.wustl.edu 37 4 30724207 30724207 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 30724207 30724207 G A SNP PCDH7 ENST00000543491 human ensembl 74_37 +1 known missense c.1163 p.R388H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 28 0 0 23 11 32.3529 PCDH7 0 genome.wustl.edu 37 4 30724342 30724342 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 30724342 30724342 C T SNP PCDH7 ENST00000543491 human ensembl 74_37 +1 known missense c.1298 p.A433V 0.993 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 36 0 0 26 3 10.3448 PCDH7 0 genome.wustl.edu 37 4 30725052 30725052 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 30725052 30725052 C T SNP PCDH7 ENST00000543491 human ensembl 74_37 +1 known missense c.2008 p.R670W 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 138 0 0 73 30 29.1262 PCDH7 0 genome.wustl.edu 37 4 30732378 30732378 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 30732378 30732378 C T SNP PCDH7 ENST00000361762 human ensembl 74_37 +1 known missense c.3178 p.R1060C 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 100 0 0 62 25 28.7356 RGS12 0 genome.wustl.edu 37 4 3318578 3318578 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 3318578 3318578 C T SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known silent c.681 p.N227 0.740 smart_PTB/PI_dom pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 83 0 0 63 12 16 LRPAP1 0 genome.wustl.edu 37 4 3519827 3519827 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 3519827 3519827 G A SNP LRPAP1 ENST00000500728 human ensembl 74_37 -1 known missense c.685 p.R229C 0.877 pfam_Alpha_2_MRAP_C,superfamily_MG_RAP_rcpt_1 pfam_Alpha_2_MRAP_C,pfam_MG_RAP_rcpt_1,superfamily_MG_RAP_rcpt_1 - no_errors LRPAP1 HGNC ENSG00000163956 30 0 0 30 4 11.7647 ARAP2 0 genome.wustl.edu 37 4 36085059 36085059 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 36085059 36085059 T C SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known missense c.4439 p.D1480G 0.998 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 28 0 0 17 6 26.087 ARAP2 0 genome.wustl.edu 37 4 36179566 36179566 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 36179566 36179566 C T SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known silent c.1740 p.S580 0.001 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 82 0 0 74 16 17.7778 RELL1 0 genome.wustl.edu 37 4 37651073 37651073 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 37651073 37651073 C T SNP RELL1 ENST00000314117 human ensembl 74_37 -1 known silent c.138 p.S46 0.000 NULL pfam_TNF_rcpt_RELT - no_errors RELL1 HGNC ENSG00000181826 208 1 0.478469 157 17 9.77011 FAM114A1 0 genome.wustl.edu 37 4 38907188 38907188 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 38907188 38907188 G A SNP FAM114A1 ENST00000358869 human ensembl 74_37 +1 known missense c.482 p.R161Q 0.930 pfam_DUF719 pfam_DUF719 - no_errors FAM114A1 HGNC ENSG00000197712 170 0 0 118 35 22.8758 WDR19 0 genome.wustl.edu 37 4 39278679 39278679 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 39278679 39278679 A G SNP WDR19 ENST00000399820 human ensembl 74_37 +1 known silent c.3756 p.P1252 0.720 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR19 HGNC ENSG00000157796 152 0 0 114 24 17.3913 RFC1 0 genome.wustl.edu 37 4 39290444 39290444 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 39290444 39290444 C T SNP RFC1 ENST00000381897 human ensembl 74_37 -1 known silent c.3384 p.K1128 0.968 pirsf_DNA_replication_fac_C_lsu pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_P-loop_NTPase,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom - no_errors RFC1 HGNC ENSG00000035928 115 0 0 67 21 23.8636 PDS5A 0 genome.wustl.edu 37 4 39929664 39929664 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 39929664 39929664 G A SNP PDS5A ENST00000303538 human ensembl 74_37 -1 known missense c.259 p.R87C 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 78 0 0 60 14 18.9189 N4BP2 0 genome.wustl.edu 37 4 40104327 40104327 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 40104327 40104327 G A SNP N4BP2 ENST00000261435 human ensembl 74_37 +1 known missense c.862 p.A288T 0.007 NULL pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C - no_errors N4BP2 HGNC ENSG00000078177 113 0 0 77 7 8.33333 RHOH 0 genome.wustl.edu 37 4 40245073 40245073 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 40245073 40245073 C T SNP RHOH ENST00000381799 human ensembl 74_37 +1 known missense c.67 p.R23C 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,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOH HGNC ENSG00000168421 86 0 0 49 28 36.3636 RBM47 0 genome.wustl.edu 37 4 40440533 40440533 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 40440533 40440533 G A SNP RBM47 ENST00000295971 human ensembl 74_37 -1 known silent c.378 p.R126 0.997 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 RBM47 HGNC ENSG00000163694 44 0 0 28 6 17.6471 ENSG00000250906 0 genome.wustl.edu 37 4 40827846 40827846 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 40827846 40827846 G A SNP ENSG00000250906 ENST00000513127 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors RP11-632F7.3 Clone_based_vega_gene ENSG00000250906 45 0 0 33 4 10.8108 UCHL1 0 genome.wustl.edu 37 4 41266152 41266152 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 41266152 41266152 G A SNP UCHL1 ENST00000284440 human ensembl 74_37 +1 known missense c.559 p.A187T 0.007 pfam_Peptidase_C12 pfam_Peptidase_C12,prints_Peptidase_C12 - no_errors UCHL1 HGNC ENSG00000154277 130 0 0 85 36 29.7521 LIMCH1 0 genome.wustl.edu 37 4 41615101 41615101 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 41615101 41615101 G A SNP LIMCH1 ENST00000396595 human ensembl 74_37 +1 known missense c.10 p.E4K 0.079 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMCH1 HGNC ENSG00000064042 27 0 0 11 4 26.6667 DCAF4L1 0 genome.wustl.edu 37 4 41984291 41984291 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 41984291 41984291 C T SNP DCAF4L1 ENST00000333141 human ensembl 74_37 +1 known missense c.482 p.A161V 0.997 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L1 HGNC ENSG00000182308 126 0 0 81 29 26.3636 ZBTB49 0 genome.wustl.edu 37 4 4304088 4304088 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 4304088 4304088 G A SNP ZBTB49 ENST00000503703 human ensembl 74_37 +1 known missense c.203 p.R68H 0.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,pfscan_BTB/POZ-like - no_errors ZBTB49 HGNC ENSG00000168826 126 0 0 80 34 29.8246 ZNF721 0 genome.wustl.edu 37 4 436305 436305 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 436305 436305 C T SNP ZNF721 ENST00000511833 human ensembl 74_37 -1 known missense c.1951 p.A651T 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF721 HGNC ENSG00000182903 208 0 0 138 18 11.5385 ZNF721 0 genome.wustl.edu 37 4 436306 436306 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 436306 436306 A G SNP ZNF721 ENST00000511833 human ensembl 74_37 -1 known silent c.1950 p.F650 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF721 HGNC ENSG00000182903 207 0 0 125 35 21.875 NSG1 0 genome.wustl.edu 37 4 4419079 4419079 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 4419079 4419079 C T SNP NSG1 ENST00000397958 human ensembl 74_37 +1 known missense c.475 p.R159C 1.000 pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp - no_errors NSG1 Uniprot_gn ENSG00000168824 169 0 0 123 41 25 GABRA4 0 genome.wustl.edu 37 4 46967169 46967169 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 46967169 46967169 C T SNP GABRA4 ENST00000264318 human ensembl 74_37 -1 known missense c.952 p.A318T 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA4 HGNC ENSG00000109158 142 0 0 115 46 28.5714 TEC 0 genome.wustl.edu 37 4 48230566 48230566 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 48230566 48230566 C T SNP TEC ENST00000381501 human ensembl 74_37 -1 known silent c.66 p.S22 0.871 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif - no_errors TEC HGNC ENSG00000135605 89 0 0 66 6 8.33333 FRYL 0 genome.wustl.edu 37 4 48591779 48591779 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 48591779 48591779 C T SNP FRYL ENST00000358350 human ensembl 74_37 -1 known silent c.1623 p.E541 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 137 0 0 101 35 25.7353 DCUN1D4 0 genome.wustl.edu 37 4 52765528 52765528 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 52765528 52765528 C T SNP DCUN1D4 ENST00000451288 human ensembl 74_37 +1 known missense c.731 p.A244V 1.000 pfam_PONY_dom pfam_PONY_dom - no_errors DCUN1D4 HGNC ENSG00000109184 25 0 0 20 6 23.0769 SGCB 0 genome.wustl.edu 37 4 52895985 52895985 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 52895985 52895985 G A SNP SGCB ENST00000381431 human ensembl 74_37 -1 known silent c.288 p.G96 1.000 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCB HGNC ENSG00000163069 97 0 0 68 9 11.6883 SGCB 0 genome.wustl.edu 37 4 52895995 52895995 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 52895995 52895995 C T SNP SGCB ENST00000381431 human ensembl 74_37 -1 known missense c.278 p.G93E 1.000 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCB HGNC ENSG00000163069 92 0 0 69 5 6.75676 USP46 0 genome.wustl.edu 37 4 53494163 53494163 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 53494163 53494163 G A SNP USP46 ENST00000441222 human ensembl 74_37 -1 known silent c.285 p.G95 0.987 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP46 HGNC ENSG00000109189 43 0 0 25 13 34.2105 SCFD2 0 genome.wustl.edu 37 4 53773693 53773693 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 53773693 53773693 G A SNP SCFD2 ENST00000401642 human ensembl 74_37 -1 known silent c.1773 p.S591 0.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors SCFD2 HGNC ENSG00000184178 130 0 0 89 37 29.3651 LNX1 0 genome.wustl.edu 37 4 54364904 54364904 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 54364904 54364904 G A SNP LNX1 ENST00000263925 human ensembl 74_37 -1 known silent c.882 p.S294 0.377 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX1 HGNC ENSG00000072201 66 0 0 56 22 28.2051 LNX1 0 genome.wustl.edu 37 4 54373579 54373579 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 54373579 54373579 G A SNP LNX1 ENST00000263925 human ensembl 74_37 -1 known missense c.680 p.A227V 0.996 NULL pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX1 HGNC ENSG00000072201 66 0 0 41 21 33.871 STK32B 0 genome.wustl.edu 37 4 5458606 5458606 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 5458606 5458606 T C SNP STK32B ENST00000282908 human ensembl 74_37 +1 known missense c.739 p.Y247H 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 STK32B HGNC ENSG00000152953 27 0 0 12 6 33.3333 C4orf6 0 genome.wustl.edu 37 4 5527158 5527158 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 5527158 5527158 G A SNP C4orf6 ENST00000195455 human ensembl 74_37 +1 known missense c.101 p.R34H 0.011 NULL NULL - no_errors C4orf6 HGNC ENSG00000082929 48 0 0 35 17 32.6923 KIAA1211 0 genome.wustl.edu 37 4 57180790 57180790 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 57180790 57180790 G A SNP KIAA1211 ENST00000504228 human ensembl 74_37 +1 known silent c.1122 p.Q374 0.000 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 13 0 0 5 5 50 REST 0 genome.wustl.edu 37 4 57798266 57798266 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 57798266 57798266 G A SNP REST ENST00000309042 human ensembl 74_37 +1 known missense c.3242 p.R1081H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REST HGNC ENSG00000084093 122 0 0 114 10 8.06452 POLR2B 0 genome.wustl.edu 37 4 57889686 57889686 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 57889686 57889686 C T SNP POLR2B ENST00000314595 human ensembl 74_37 +1 known silent c.2706 p.G902 0.997 pfam_DNA-dir_RNA_pol_su2_6 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 123 0 0 94 28 22.9508 EVC 0 genome.wustl.edu 37 4 5803721 5803721 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 5803721 5803721 C T SNP EVC ENST00000264956 human ensembl 74_37 +1 known silent c.2349 p.S783 0.007 NULL NULL - no_errors EVC HGNC ENSG00000072840 32 0 0 16 11 40.7407 CRMP1 0 genome.wustl.edu 37 4 5838577 5838577 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 5838577 5838577 G A SNP CRMP1 ENST00000324989 human ensembl 74_37 -1 known missense c.1367 p.A456V 1.000 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 72 0 0 49 15 23.4375 LPHN3 0 genome.wustl.edu 37 4 62598873 62598873 + Missense_Mutation SNP G G C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 62598873 62598873 G C SNP LPHN3 ENST00000507625 human ensembl 74_37 +1 known missense c.1000 p.A334P 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 45 0 0 36 12 25 PPP2R2C 0 genome.wustl.edu 37 4 6374363 6374363 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 6374363 6374363 C T SNP PPP2R2C ENST00000335585 human ensembl 74_37 -1 known missense c.512 p.G171D 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2C HGNC ENSG00000074211 136 0 0 78 27 25.7143 CENPC 0 genome.wustl.edu 37 4 68380247 68380247 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 68380247 68380247 C T SNP CENPC ENST00000273853 human ensembl 74_37 -1 known missense c.989 p.R330H 0.000 NULL pfam_Mif2/CENP-C_cupin,pfam_Cupin_2,superfamily_RmlC_Cupin - no_errors CENPC HGNC ENSG00000145241 32 0 0 26 4 13.3333 YTHDC1 0 genome.wustl.edu 37 4 69180004 69180004 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 69180004 69180004 C T SNP YTHDC1 ENST00000344157 human ensembl 74_37 -1 known missense c.1997 p.R666H 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC ENSG00000083896 50 0 0 32 9 21.9512 UGT2B15 0 genome.wustl.edu 37 4 69512908 69512908 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 69512908 69512908 C T SNP UGT2B15 ENST00000338206 human ensembl 74_37 -1 known missense c.1507 p.A503T 0.320 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B15 HGNC ENSG00000196620 131 0 0 116 42 26.5823 UGT2B28 0 genome.wustl.edu 37 4 70146222 70146222 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 70146222 70146222 G T SNP UGT2B28 ENST00000335568 human ensembl 74_37 +1 known missense c.4 p.A2S 0.003 NULL pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B28 HGNC ENSG00000135226 234 0 0 221 13 5.55556 UGT2B4 0 genome.wustl.edu 37 4 70351060 70351060 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 70351060 70351060 G A SNP UGT2B4 ENST00000305107 human ensembl 74_37 -1 known silent c.1176 p.G392 0.088 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B4 HGNC ENSG00000156096 212 0 0 148 54 26.7327 UGT2B4 0 genome.wustl.edu 37 4 70360986 70360986 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 70360986 70360986 C T SNP UGT2B4 ENST00000305107 human ensembl 74_37 -1 known missense c.594 p.M198I 0.247 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B4 HGNC ENSG00000156096 128 1 0.775194 93 30 24.3902 TADA2B 0 genome.wustl.edu 37 4 7056185 7056185 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 7056185 7056185 G A SNP TADA2B ENST00000310074 human ensembl 74_37 +1 known missense c.667 p.A223T 1.000 pirsf_Transcriptional_adaptor_2 pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors TADA2B HGNC ENSG00000173011 87 0 0 79 7 8.13953 CABS1 0 genome.wustl.edu 37 4 71201857 71201857 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 71201857 71201857 T C SNP CABS1 ENST00000273936 human ensembl 74_37 +1 known silent c.1101 p.D367 0.000 NULL NULL - no_errors CABS1 HGNC ENSG00000145309 122 0 0 132 8 5.71429 GC 0 genome.wustl.edu 37 4 72631188 72631188 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 72631188 72631188 C T SNP GC ENST00000273951 human ensembl 74_37 -1 known missense c.434 p.C145Y 1.000 pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_ALB/AFP/VDB pfam_Serum_albumin_N,pfam_VitD-bind_III,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_VitD-bd,prints_ALB/AFP/VDB - no_errors GC HGNC ENSG00000145321 157 0 0 101 30 22.9008 NPFFR2 0 genome.wustl.edu 37 4 72994441 72994441 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 72994441 72994441 G A SNP NPFFR2 ENST00000308744 human ensembl 74_37 +1 known missense c.439 p.A147T 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPFF_rcpt_2,prints_NPFF_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPFFR2 HGNC ENSG00000056291 92 0 0 80 24 23.0769 ADAMTS3 0 genome.wustl.edu 37 4 73176816 73176816 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 73176816 73176816 C T SNP ADAMTS3 ENST00000286657 human ensembl 74_37 -1 known silent c.2004 p.T668 0.004 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS3 HGNC ENSG00000156140 112 0 0 85 24 22.0183 ANKRD17 0 genome.wustl.edu 37 4 74017203 74017203 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 74017203 74017203 C T SNP ANKRD17 ENST00000358602 human ensembl 74_37 -1 known missense c.1273 p.A425T 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKRD17 HGNC ENSG00000132466 51 0 0 37 8 17.7778 AFP 0 genome.wustl.edu 37 4 74318231 74318231 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 74318231 74318231 C T SNP AFP ENST00000395792 human ensembl 74_37 +1 known silent c.1542 p.S514 0.381 pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin/AFP pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin/AFP,prints_Alpha-fetoprotein,prints_ALB/AFP/VDB - no_errors AFP HGNC ENSG00000081051 102 0 0 67 16 19.2771 PSAPL1 0 genome.wustl.edu 37 4 7435640 7435640 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 7435640 7435640 G A SNP PSAPL1 ENST00000319098 human ensembl 74_37 -1 known missense c.967 p.R323C 0.476 pirsf_Saposin_chordata,pfam_SapB_1,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB pirsf_Saposin_chordata,pfam_SapA,pfam_SapB_1,pfam_SapB_2,superfamily_Saposin-like,smart_SapA,smart_SaposinB,prints_Saposin,pfscan_SapA,pfscan_SaposinB - no_errors PSAPL1 HGNC ENSG00000178597 61 0 0 54 14 20.5882 PF4V1 0 genome.wustl.edu 37 4 74719624 74719624 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 74719624 74719624 C T SNP PF4V1 ENST00000226524 human ensembl 74_37 +1 known silent c.225 p.L75 0.095 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC - no_errors PF4V1 HGNC ENSG00000109272 51 0 0 40 13 24.5283 CNOT6L 0 genome.wustl.edu 37 4 78652648 78652648 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 78652648 78652648 G A SNP CNOT6L ENST00000264903 human ensembl 74_37 -1 known missense c.917 p.A306V 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp - no_errors CNOT6L HGNC ENSG00000138767 82 0 0 47 19 28.7879 PAQR3 0 genome.wustl.edu 37 4 79841732 79841732 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 79841732 79841732 T C SNP PAQR3 ENST00000511594 human ensembl 74_37 -1 known silent c.897 p.R299 1.000 NULL pfam_HlyIII-related - no_errors PAQR3 HGNC ENSG00000163291 95 0 0 76 27 26.2136 ABLIM2 0 genome.wustl.edu 37 4 8010821 8010821 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 8010821 8010821 G A SNP ABLIM2 ENST00000447017 human ensembl 74_37 -1 known nonsense c.1432 p.R478* 0.020 NULL pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM2 HGNC ENSG00000163995 117 0 0 102 7 6.42202 ANTXR2 0 genome.wustl.edu 37 4 80906003 80906003 + Silent SNP A A T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 80906003 80906003 A T SNP ANTXR2 ENST00000307333 human ensembl 74_37 -1 known silent c.1056 p.P352 0.985 pirsf_Anthrax_toxin_rcpt pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_C,pfam_Anthrax_toxin_rcpt_extracel,pfam_VWF_A,superfamily_Ig_E-set,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR2 HGNC ENSG00000163297 24 0 0 14 6 30 SH3TC1 0 genome.wustl.edu 37 4 8230088 8230088 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 8230088 8230088 C T SNP SH3TC1 ENST00000245105 human ensembl 74_37 +1 known silent c.2667 p.A889 0.854 smart_TPR_repeat superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC ENSG00000125089 37 0 0 23 7 23.3333 SH3TC1 0 genome.wustl.edu 37 4 8233879 8233879 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 8233879 8233879 G A SNP SH3TC1 ENST00000245105 human ensembl 74_37 +1 known missense c.3127 p.E1043K 0.997 NULL superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC ENSG00000125089 18 0 0 10 6 37.5 HNRNPDL 0 genome.wustl.edu 37 4 83350541 83350541 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 83350541 83350541 A G SNP HNRNPDL ENST00000295470 human ensembl 74_37 -1 known silent c.303 p.A101 0.077 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPDL HGNC ENSG00000152795 57 0 0 41 13 24.0741 ENOPH1 0 genome.wustl.edu 37 4 83381193 83381193 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 83381193 83381193 G A SNP ENOPH1 ENST00000273920 human ensembl 74_37 +1 known missense c.706 p.A236T 0.956 superfamily_HAD-like_dom,tigrfam_Enolase-ppase_E1 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_Enolase-ppase_E1,tigrfam_HAD-SF_hydro_IA - no_errors ENOPH1 HGNC ENSG00000145293 78 0 0 62 8 11.4286 ACOX3 0 genome.wustl.edu 37 4 8368787 8368787 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 8368787 8368787 G A SNP ACOX3 ENST00000356406 human ensembl 74_37 -1 known silent c.2004 p.G668 0.000 pfam_Acyl-CoA_oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX3 HGNC ENSG00000087008 59 0 0 41 22 34.9206 SCD5 0 genome.wustl.edu 37 4 83719512 83719512 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 83719512 83719512 G A SNP SCD5 ENST00000319540 human ensembl 74_37 -1 known missense c.179 p.A60V 1.000 prints_Fatty_acid_desaturase-1_core pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core - no_errors SCD5 HGNC ENSG00000145284 24 0 0 20 10 33.3333 ACOX3 0 genome.wustl.edu 37 4 8398744 8398744 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 8398744 8398744 C T SNP ACOX3 ENST00000356406 human ensembl 74_37 -1 known missense c.976 p.A326T 0.821 pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX3 HGNC ENSG00000087008 63 0 0 47 16 25.3968 ACOX3 0 genome.wustl.edu 37 4 8416072 8416072 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 8416072 8416072 C T SNP ACOX3 ENST00000356406 human ensembl 74_37 -1 known missense c.490 p.G164S 1.000 pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX3 HGNC ENSG00000087008 71 0 0 50 18 26.4706 WDFY3 0 genome.wustl.edu 37 4 85701365 85701365 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 85701365 85701365 C T SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.4261 p.A1421T 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 132 0 0 85 25 22.7273 WDFY3 0 genome.wustl.edu 37 4 85715780 85715780 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 85715780 85715780 G A SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.3379 p.R1127C 0.996 superfamily_ConA-like_lec_gl_sf pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 118 1 0.840336 100 7 6.54206 GAK 0 genome.wustl.edu 37 4 871523 871523 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 871523 871523 G A SNP GAK ENST00000314167 human ensembl 74_37 -1 known missense c.1736 p.A579V 0.707 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_Kinase-like_dom,superfamily_DnaJ_domain,superfamily_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_domain,pfscan_Prot_kinase_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors GAK HGNC ENSG00000178950 34 0 0 20 14 41.1765 PTPN13 0 genome.wustl.edu 37 4 87726516 87726516 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 87726516 87726516 C A SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known missense c.6754 p.L2252I 0.998 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 30 0 0 18 4 18.1818 C4orf36 0 genome.wustl.edu 37 4 87808929 87808929 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 87808929 87808929 G A SNP C4orf36 ENST00000295898 human ensembl 74_37 -1 known missense c.338 p.P113L 1.000 NULL NULL - no_errors C4orf36 HGNC ENSG00000163633 63 0 0 55 17 23.6111 AFF1 0 genome.wustl.edu 37 4 88011180 88011180 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 88011180 88011180 G A SNP AFF1 ENST00000395146 human ensembl 74_37 +1 known silent c.1149 p.T383 0.997 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC ENSG00000172493 86 0 0 63 14 18.1818 AFF1 0 genome.wustl.edu 37 4 88036259 88036259 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 88036259 88036259 G A SNP AFF1 ENST00000395146 human ensembl 74_37 +1 known silent c.2274 p.P758 0.606 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC ENSG00000172493 95 0 0 62 6 8.82353 PKD2 0 genome.wustl.edu 37 4 88986920 88986920 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 88986920 88986920 C T SNP PKD2 ENST00000237596 human ensembl 74_37 +1 known silent c.2247 p.G749 1.000 NULL pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_hand_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2 HGNC ENSG00000118762 167 0 0 111 36 24.4898 HERC6 0 genome.wustl.edu 37 4 89358921 89358921 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 89358921 89358921 A G SNP HERC6 ENST00000264346 human ensembl 74_37 +1 known missense c.2543 p.D848G 0.995 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC6 HGNC ENSG00000138642 21 0 0 11 5 31.25 FAM13A-AS1 0 genome.wustl.edu 37 4 89649680 89649680 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 89649680 89649680 C T SNP FAM13A-AS1 ENST00000500765 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM13A-AS1 HGNC ENSG00000248019 73 0 0 33 9 21.4286 GPRIN3 0 genome.wustl.edu 37 4 90170134 90170134 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 90170134 90170134 C T SNP GPRIN3 ENST00000333209 human ensembl 74_37 -1 known silent c.1128 p.T376 0.000 NULL NULL - no_errors GPRIN3 HGNC ENSG00000185477 58 0 0 32 13 28.8889 PDLIM5 0 genome.wustl.edu 37 4 95578591 95578591 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 95578591 95578591 C T SNP PDLIM5 ENST00000317968 human ensembl 74_37 +1 known missense c.1478 p.A493V 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM5 HGNC ENSG00000163110 86 0 0 57 17 22.973 DRD5 0 genome.wustl.edu 37 4 9784507 9784507 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 9784507 9784507 G A SNP DRD5 ENST00000304374 human ensembl 74_37 +1 known missense c.854 p.R285H 0.994 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_D5_rcpt,prints_Dopamine_rcpt - no_errors DRD5 HGNC ENSG00000169676 63 0 0 29 15 34.0909 TSPAN5 0 genome.wustl.edu 37 4 99399869 99399869 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 99399869 99399869 G A SNP TSPAN5 ENST00000508798 human ensembl 74_37 -1 known missense c.479 p.A160V 0.994 NULL pfam_Tetraspanin/Peripherin,prints_Tetraspanin - no_errors TSPAN5 HGNC ENSG00000168785 109 0 0 62 31 33.3333 TSPAN5 0 genome.wustl.edu 37 4 99407956 99407956 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 99407956 99407956 A G SNP TSPAN5 ENST00000305798 human ensembl 74_37 -1 known missense c.212 p.V71A 1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN5 HGNC ENSG00000168785 172 0 0 111 30 21.2766 METAP1 0 genome.wustl.edu 37 4 99960602 99960602 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 99960602 99960602 C T SNP METAP1 ENST00000296411 human ensembl 74_37 +1 known nonsense c.418 p.R140* 1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pept_M24A_MAP1 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1 - no_errors METAP1 HGNC ENSG00000164024 122 0 0 86 23 21.1009 ST8SIA4 0 genome.wustl.edu 37 5 100238558 100238558 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 100238558 100238558 C T SNP ST8SIA4 ENST00000231461 human ensembl 74_37 -1 known silent c.102 p.T34 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA4 HGNC ENSG00000113532 44 0 0 21 7 25 SLCO4C1 0 genome.wustl.edu 37 5 101592920 101592920 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 101592920 101592920 A G SNP SLCO4C1 ENST00000310954 human ensembl 74_37 -1 known silent c.1368 p.F456 0.995 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4C1 HGNC ENSG00000173930 64 0 0 60 21 25.9259 PAM 0 genome.wustl.edu 37 5 102237087 102237087 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 102237087 102237087 C T SNP PAM ENST00000304400 human ensembl 74_37 +1 known nonsense c.238 p.R80* 0.995 pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom pfam_NHL_repeat,pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom,pfscan_NHL_repeat_subgr,prints_Pep_amidat_mOase - no_errors PAM HGNC ENSG00000145730 26 0 0 17 7 29.1667 PPIP5K2 0 genome.wustl.edu 37 5 102474135 102474135 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 102474135 102474135 G A SNP PPIP5K2 ENST00000358359 human ensembl 74_37 +1 known missense c.449 p.R150H 1.000 NULL pfam_His_Pase_superF_clade-2 - no_errors PPIP5K2 HGNC ENSG00000145725 77 0 0 46 16 25.8065 NUDT12 0 genome.wustl.edu 37 5 102891660 102891660 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 102891660 102891660 G A SNP NUDT12 ENST00000230792 human ensembl 74_37 -1 known silent c.936 p.G312 0.022 superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,pfam_Ankyrin_rpt,pfam_Znr_NADH_PPase,pfam_NADH_PPase-like_N,superfamily_NUDIX_hydrolase_dom-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors NUDT12 HGNC ENSG00000112874 106 1 0.934579 84 9 9.67742 APC 0 genome.wustl.edu 37 5 112137021 112137021 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 112137021 112137021 C T SNP APC ENST00000257430 human ensembl 74_37 +1 known missense c.775 p.R259W 1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 60 0 0 37 13 26 AQPEP 0 genome.wustl.edu 37 5 115338603 115338603 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 115338603 115338603 G A SNP AQPEP ENST00000357872 human ensembl 74_37 +1 known missense c.1892 p.S631N 0.958 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_gn ENSG00000172901 31 0 0 25 6 19.3548 SEMA6A 0 genome.wustl.edu 37 5 115783256 115783256 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 115783256 115783256 C A SNP SEMA6A ENST00000257414 human ensembl 74_37 -1 known missense c.2197 p.D733Y 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 113 0 0 80 22 21.5686 DMXL1 0 genome.wustl.edu 37 5 118482975 118482975 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 118482975 118482975 G A SNP DMXL1 ENST00000539542 human ensembl 74_37 +1 known silent c.2721 p.A907 0.797 superfamily_WD40_repeat_dom pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 62 0 0 52 22 29.7297 FTMT 0 genome.wustl.edu 37 5 121188112 121188112 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 121188112 121188112 G A SNP FTMT ENST00000321339 human ensembl 74_37 +1 known missense c.454 p.D152N 0.392 pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron - no_errors FTMT HGNC ENSG00000181867 91 0 0 61 19 23.75 SNCAIP 0 genome.wustl.edu 37 5 121761189 121761189 + Missense_Mutation SNP A A C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 121761189 121761189 A C SNP SNCAIP ENST00000379533 human ensembl 74_37 +1 known missense c.1286 p.N429T 0.982 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SNCAIP HGNC ENSG00000064692 88 0 0 71 20 21.978 CSNK1G3 0 genome.wustl.edu 37 5 122950080 122950080 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 122950080 122950080 G A SNP CSNK1G3 ENST00000360683 human ensembl 74_37 +1 known missense c.1358 p.R453H 1.000 NULL pfam_Prot_kinase_dom,pfam_Casein_kinase-1_gamma_C,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 CSNK1G3 HGNC ENSG00000151292 102 0 0 70 18 20.4545 ZNF608 0 genome.wustl.edu 37 5 123984239 123984239 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 123984239 123984239 C T SNP ZNF608 ENST00000306315 human ensembl 74_37 -1 known missense c.1838 p.S613N 1.000 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 76 0 0 54 10 15.625 TERT 0 genome.wustl.edu 37 5 1264611 1264611 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 1264611 1264611 C T SNP TERT ENST00000310581 human ensembl 74_37 -1 known silent c.2751 p.T917 0.000 pfscan_RVT pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT - no_errors TERT HGNC ENSG00000164362 53 0 0 39 13 25 MEGF10 0 genome.wustl.edu 37 5 126755870 126755870 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 126755870 126755870 C T SNP MEGF10 ENST00000274473 human ensembl 74_37 +1 known missense c.1561 p.R521C 1.000 smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF10 HGNC ENSG00000145794 36 0 0 30 13 30.2326 FBN2 0 genome.wustl.edu 37 5 127668686 127668686 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 127668686 127668686 C T SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.4140 p.M1380I 1.000 pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 142 0 0 120 11 8.39695 FBN2 0 genome.wustl.edu 37 5 127685073 127685073 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 127685073 127685073 G A SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known silent c.2955 p.G985 0.975 pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 88 0 0 47 14 22.9508 RAPGEF6 0 genome.wustl.edu 37 5 130764881 130764881 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 130764881 130764881 G A SNP RAPGEF6 ENST00000509018 human ensembl 74_37 -1 known silent c.4494 p.D1498 0.998 NULL pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF6 HGNC ENSG00000158987 91 0 0 75 12 13.7931 P4HA2 0 genome.wustl.edu 37 5 131534590 131534590 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 131534590 131534590 C T SNP P4HA2 ENST00000166534 human ensembl 74_37 -1 known silent c.1287 p.P429 0.680 pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors P4HA2 HGNC ENSG00000072682 59 0 0 36 8 18.1818 SLC22A4 0 genome.wustl.edu 37 5 131647916 131647916 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 131647916 131647916 C T SNP SLC22A4 ENST00000200652 human ensembl 74_37 +1 known silent c.456 p.G152 0.484 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 SLC22A4 HGNC ENSG00000197208 174 0 0 122 10 7.57576 KIF3A 0 genome.wustl.edu 37 5 132052617 132052617 + Missense_Mutation SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 132052617 132052617 T A SNP KIF3A ENST00000378735 human ensembl 74_37 -1 known missense c.676 p.I226F 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF3A HGNC ENSG00000131437 121 0 0 97 38 28.1481 CCNI2 0 genome.wustl.edu 37 5 132086668 132086668 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 132086668 132086668 G A SNP CCNI2 ENST00000378731 human ensembl 74_37 +1 novel silent c.753 p.T251 0.524 pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNI2 HGNC ENSG00000205089 93 0 0 91 20 18.018 PPP2CA 0 genome.wustl.edu 37 5 133537696 133537696 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 133537696 133537696 C T SNP PPP2CA ENST00000481195 human ensembl 74_37 -1 known missense c.329 p.R110H 1.000 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP2CA HGNC ENSG00000113575 86 0 0 65 17 20.7317 C5orf20 0 genome.wustl.edu 37 5 134782488 134782488 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 134782488 134782488 G A SNP C5orf20 ENST00000503143 human ensembl 74_37 -1 known missense c.311 p.A104V 0.000 NULL NULL - no_errors C5orf20 HGNC ENSG00000251380 104 0 0 76 27 26.2136 NME5 0 genome.wustl.edu 37 5 137454523 137454523 + Missense_Mutation SNP T T G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 137454523 137454523 T G SNP NME5 ENST00000265191 human ensembl 74_37 -1 known missense c.539 p.K180T 1.000 pfam_Dpy-30_motif,pirsf_NDK_H5 pfam_Nucleoside_diP_kinase,pfam_Dpy-30_motif,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,pirsf_NDK_H5,prints_Nucleoside_diP_kinase - no_errors NME5 HGNC ENSG00000112981 54 0 0 46 5 9.80392 CDC25C 0 genome.wustl.edu 37 5 137621809 137621809 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 137621809 137621809 G A SNP CDC25C ENST00000323760 human ensembl 74_37 -1 known missense c.1174 p.R392C 0.901 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25C HGNC ENSG00000158402 87 0 0 76 17 18.2796 ETF1 0 genome.wustl.edu 37 5 137848611 137848611 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 137848611 137848611 G A SNP ETF1 ENST00000360541 human ensembl 74_37 -1 known missense c.574 p.R192C 1.000 pfam_eRF1_2,tigrfam_Peptide_chain-rel_eRF1/aRF1 pfam_eRF1_2,pfam_eRF1_3,pfam_eRF1_1_Pelota,superfamily_Release_factor_eRF1/aRF1_N,tigrfam_Peptide_chain-rel_eRF1/aRF1 - no_errors ETF1 HGNC ENSG00000120705 112 0 0 63 23 26.7442 DNAH5 0 genome.wustl.edu 37 5 13891148 13891148 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 13891148 13891148 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known silent c.2514 p.T838 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 126 1 0.787402 84 39 31.7073 CXXC5 0 genome.wustl.edu 37 5 139060723 139060723 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 139060723 139060723 G A SNP CXXC5 ENST00000302517 human ensembl 74_37 +1 known silent c.615 p.Q205 0.997 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors CXXC5 HGNC ENSG00000171604 24 0 0 23 8 25.8065 SRA1 0 genome.wustl.edu 37 5 139930355 139930355 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 139930355 139930355 G A SNP SRA1 ENST00000336283 human ensembl 74_37 -1 known missense c.641 p.A214V 0.700 pfam_SRA1-protein/COPII_Sec31 pfam_SRA1-protein/COPII_Sec31 - no_errors SRA1 HGNC ENSG00000213523 106 0 0 82 9 9.89011 ZMAT2 0 genome.wustl.edu 37 5 140085213 140085213 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140085213 140085213 G A SNP ZMAT2 ENST00000274712 human ensembl 74_37 +1 known missense c.472 p.A158T 1.000 NULL pfam_Znf_C2H2_jaz,pfam_Znf_U1-C,smart_Znf_U1 - no_errors ZMAT2 HGNC ENSG00000146007 31 0 0 20 7 25.9259 PCDHA1 0 genome.wustl.edu 37 5 140167729 140167729 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140167729 140167729 G A SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known silent c.1854 p.A618 0.009 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 PCDHA1 HGNC ENSG00000204970 102 0 0 41 24 36.9231 PCDHA2 0 genome.wustl.edu 37 5 140175845 140175845 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140175845 140175845 G A SNP PCDHA2 ENST00000526136 human ensembl 74_37 +1 known silent c.1296 p.S432 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 77 0 0 59 14 19.1781 PCDHA4 0 genome.wustl.edu 37 5 140188422 140188422 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140188422 140188422 G A SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known silent c.1650 p.T550 0.936 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 93 0 0 54 5 8.47458 PCDHA5 0 genome.wustl.edu 37 5 140201540 140201540 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140201540 140201540 G A SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known silent c.180 p.P60 0.403 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 87 0 0 53 19 26.3889 PCDHA8 0 genome.wustl.edu 37 5 140222549 140222549 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140222549 140222549 A G SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known missense c.1643 p.N548S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 114 0 0 64 23 26.4368 PCDHA10 0 genome.wustl.edu 37 5 140237080 140237080 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140237080 140237080 G A SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known missense c.1447 p.A483T 0.346 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 PCDHA10 HGNC ENSG00000250120 127 0 0 62 24 27.907 PCDHA10 0 genome.wustl.edu 37 5 140237425 140237425 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140237425 140237425 G A SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known missense c.1792 p.A598T 0.986 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 PCDHA10 HGNC ENSG00000250120 62 0 0 42 11 20.7547 ENSG00000249034 0 genome.wustl.edu 37 5 140242884 140242884 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140242884 140242884 G A SNP ENSG00000249034 ENST00000502505 human ensembl 74_37 -1 known missense c.92 p.A31V 1.000 NULL NULL - no_errors AC005609.1 Clone_based_ensembl_gene ENSG00000249034 89 0 0 48 14 22.5806 PCDHA11 0 genome.wustl.edu 37 5 140250178 140250178 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140250178 140250178 G A SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.1490 p.R497Q 0.008 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 PCDHA11 HGNC ENSG00000249158 67 0 0 42 24 36.3636 PCDHA12 0 genome.wustl.edu 37 5 140256730 140256730 + Missense_Mutation SNP A A T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140256730 140256730 A T SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known missense c.1673 p.E558V 0.999 superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 90 0 0 68 19 21.8391 PCDHA13 0 genome.wustl.edu 37 5 140261998 140261998 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140261998 140261998 G A SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known missense c.145 p.A49T 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 85 0 0 51 9 15 PCDHAC1 0 genome.wustl.edu 37 5 140307066 140307066 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140307066 140307066 G A SNP PCDHAC1 ENST00000253807 human ensembl 74_37 +1 known missense c.589 p.A197T 0.778 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 PCDHAC1 HGNC ENSG00000248383 46 0 0 26 8 23.5294 PCDHAC1 0 genome.wustl.edu 37 5 140307389 140307389 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140307389 140307389 G A SNP PCDHAC1 ENST00000253807 human ensembl 74_37 +1 known silent c.912 p.T304 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 127 0 0 101 10 9.00901 PCDHAC2 0 genome.wustl.edu 37 5 140347212 140347212 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140347212 140347212 C T SNP PCDHAC2 ENST00000289269 human ensembl 74_37 +1 known silent c.861 p.G287 0.972 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 PCDHAC2 HGNC ENSG00000243232 52 0 0 31 9 22.5 PCDHB2 0 genome.wustl.edu 37 5 140475246 140475246 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140475246 140475246 G A SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known missense c.872 p.R291H 0.990 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 PCDHB2 HGNC ENSG00000112852 90 0 0 98 8 7.54717 PCDHB2 0 genome.wustl.edu 37 5 140476325 140476325 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140476325 140476325 G A SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known missense c.1951 p.E651K 0.960 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 PCDHB2 HGNC ENSG00000112852 24 0 0 14 9 39.1304 PCDHB3 0 genome.wustl.edu 37 5 140481651 140481651 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140481651 140481651 T C SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known missense c.1418 p.V473A 0.840 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 PCDHB3 HGNC ENSG00000113205 136 0 0 83 31 27.193 PCDHB3 0 genome.wustl.edu 37 5 140481683 140481683 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140481683 140481683 G A SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known missense c.1450 p.A484T 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 PCDHB3 HGNC ENSG00000113205 137 0 0 71 36 33.6449 PCDHB7 0 genome.wustl.edu 37 5 140554671 140554671 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140554671 140554671 G A SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known missense c.2255 p.C752Y 0.979 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 213 0 0 147 14 8.69565 PCDHB8 0 genome.wustl.edu 37 5 140559017 140559017 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140559017 140559017 G A SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known missense c.1402 p.A468T 0.996 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 230 0 0 159 21 11.6667 PCDHB16 0 genome.wustl.edu 37 5 140563922 140563922 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140563922 140563922 G A SNP PCDHB16 ENST00000361016 human ensembl 74_37 +1 known silent c.1788 p.S596 0.995 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 PCDHB16 HGNC ENSG00000196963 66 0 0 20 14 41.1765 PCDHB10 0 genome.wustl.edu 37 5 140574209 140574209 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140574209 140574209 C T SNP PCDHB10 ENST00000239446 human ensembl 74_37 +1 known missense c.2084 p.A695V 0.382 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB10 HGNC ENSG00000120324 77 0 0 44 16 26.6667 PCDHB11 0 genome.wustl.edu 37 5 140581476 140581476 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140581476 140581476 C T SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known missense c.2129 p.A710V 0.001 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 142 0 0 124 14 10.1449 PCDHB11 0 genome.wustl.edu 37 5 140581505 140581505 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140581505 140581505 G A SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known missense c.2158 p.A720T 0.101 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 125 0 0 117 10 7.87402 PCDHB14 0 genome.wustl.edu 37 5 140604673 140604673 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140604673 140604673 C T SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known silent c.1596 p.G532 0.018 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 103 0 0 74 10 11.9048 PCDHB14 0 genome.wustl.edu 37 5 140605138 140605138 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140605138 140605138 C T SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known silent c.2061 p.T687 0.002 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 120 0 0 73 18 19.7802 PCDHB18 0 genome.wustl.edu 37 5 140615770 140615770 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140615770 140615770 C T SNP PCDHB18 ENST00000526308 human ensembl 74_37 +1 known rna NULL NULL 0.631 - - - no_errors PCDHB18 HGNC ENSG00000146001 47 0 0 36 8 18.1818 TAF7 0 genome.wustl.edu 37 5 140699196 140699196 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140699196 140699196 G A SNP TAF7 ENST00000313368 human ensembl 74_37 -1 known missense c.416 p.P139L 1.000 pfam_TAFII55_prot_cons_reg pfam_TAFII55_prot_cons_reg - no_errors TAF7 HGNC ENSG00000178913 176 0 0 135 32 19.1617 PCDHGA1 0 genome.wustl.edu 37 5 140710396 140710396 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140710396 140710396 G A SNP PCDHGA1 ENST00000517417 human ensembl 74_37 +1 known missense c.145 p.A49T 0.288 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC ENSG00000204956 153 0 0 91 37 28.9062 PCDHGA5 0 genome.wustl.edu 37 5 140745824 140745824 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140745824 140745824 G A SNP PCDHGA5 ENST00000518069 human ensembl 74_37 +1 known missense c.1927 p.V643M 0.041 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC ENSG00000253485 155 0 0 117 27 18.75 PCDHGA5 0 genome.wustl.edu 37 5 140746261 140746261 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140746261 140746261 C T SNP PCDHGA5 ENST00000518069 human ensembl 74_37 +1 known silent c.2364 p.S788 0.010 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC ENSG00000253485 210 1 0.473934 151 23 13.2184 PCDHGA9 0 genome.wustl.edu 37 5 140784212 140784212 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140784212 140784212 C T SNP PCDHGA9 ENST00000573521 human ensembl 74_37 +1 known missense c.1693 p.P565S 1.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA9 HGNC ENSG00000261934 214 0 0 156 16 9.30233 PCDHGB6 0 genome.wustl.edu 37 5 140789114 140789114 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140789114 140789114 G A SNP PCDHGB6 ENST00000520790 human ensembl 74_37 +1 known missense c.1345 p.A449T 0.915 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB6 HGNC ENSG00000253305 65 0 0 35 10 22.2222 PCDHGB7 0 genome.wustl.edu 37 5 140799072 140799072 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140799072 140799072 G A SNP PCDHGB7 ENST00000398594 human ensembl 74_37 +1 known missense c.1646 p.R549H 0.987 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 33 0 0 27 10 27.027 PCDHGA12 0 genome.wustl.edu 37 5 140810542 140810542 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140810542 140810542 G A SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known silent c.216 p.T72 0.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 124 0 0 81 18 18.1818 PCDHGA12 0 genome.wustl.edu 37 5 140812003 140812003 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140812003 140812003 G A SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known silent c.1677 p.A559 0.015 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 251 0 0 148 57 27.8049 PCDHGC3 0 genome.wustl.edu 37 5 140857013 140857013 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140857013 140857013 C T SNP PCDHGC3 ENST00000308177 human ensembl 74_37 +1 known missense c.1330 p.R444C 0.007 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC3 HGNC ENSG00000240184 138 0 0 84 24 22.2222 SLC6A3 0 genome.wustl.edu 37 5 1409199 1409199 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 1409199 1409199 G A SNP SLC6A3 ENST00000270349 human ensembl 74_37 -1 known silent c.1440 p.A480 0.938 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine - no_errors SLC6A3 HGNC ENSG00000142319 24 0 0 16 10 38.4615 HDAC3 0 genome.wustl.edu 37 5 141005313 141005313 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 141005313 141005313 G A SNP HDAC3 ENST00000305264 human ensembl 74_37 -1 known missense c.998 p.A333V 1.000 pirsf_His_deacetylse_1 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC3 HGNC ENSG00000171720 60 0 0 48 14 22.5806 TRIO 0 genome.wustl.edu 37 5 14367023 14367023 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 14367023 14367023 G A SNP TRIO ENST00000344204 human ensembl 74_37 +1 known missense c.2809 p.A937T 1.000 pfam_Spectrin_repeat,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_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 94 0 0 83 20 19.4175 KCTD16 0 genome.wustl.edu 37 5 143853254 143853254 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 143853254 143853254 C T SNP KCTD16 ENST00000507359 human ensembl 74_37 +1 known silent c.864 p.C288 0.990 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD16 HGNC ENSG00000183775 119 0 0 76 19 20 TRIO 0 genome.wustl.edu 37 5 14401091 14401091 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 14401091 14401091 C T SNP TRIO ENST00000344204 human ensembl 74_37 +1 known missense c.4634 p.T1545I 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology 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 72 0 0 38 8 17.3913 ENSG00000251556 0 genome.wustl.edu 37 5 145499910 145499910 + RNA SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 145499910 145499910 T C SNP ENSG00000251556 ENST00000514002 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-118M9.3 Clone_based_vega_gene ENSG00000251556 172 0 0 128 44 25.5814 RBM27 0 genome.wustl.edu 37 5 145631338 145631338 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 145631338 145631338 G A SNP RBM27 ENST00000265271 human ensembl 74_37 +1 known silent c.1344 p.P448 1.000 NULL pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 181 0 0 103 51 33.1169 JAKMIP2 0 genome.wustl.edu 37 5 147012252 147012252 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 147012252 147012252 T C SNP JAKMIP2 ENST00000265272 human ensembl 74_37 -1 known silent c.1767 p.L589 1.000 NULL NULL - no_errors JAKMIP2 HGNC ENSG00000176049 179 0 0 164 17 9.39227 HTR4 0 genome.wustl.edu 37 5 147889355 147889355 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 147889355 147889355 C A SNP HTR4 ENST00000360693 human ensembl 74_37 -1 known missense c.740 p.S247I 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt,prints_GPCR_Rhodpsn - no_errors HTR4 HGNC ENSG00000164270 55 0 0 35 10 22.2222 PCYOX1L 0 genome.wustl.edu 37 5 148745609 148745609 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 148745609 148745609 C T SNP PCYOX1L ENST00000274569 human ensembl 74_37 +1 known missense c.575 p.A192V 0.993 pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase - no_errors PCYOX1L HGNC ENSG00000145882 49 0 0 29 15 34.0909 PCYOX1L 0 genome.wustl.edu 37 5 148747580 148747580 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 148747580 148747580 C T SNP PCYOX1L ENST00000274569 human ensembl 74_37 +1 known missense c.848 p.A283V 0.000 pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase - no_errors PCYOX1L HGNC ENSG00000145882 163 0 0 120 13 9.77444 IL17B 0 genome.wustl.edu 37 5 148754023 148754023 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 148754023 148754023 C T SNP IL17B ENST00000261796 human ensembl 74_37 -1 known missense c.452 p.R151H 1.000 pfam_IL-17_fam pfam_IL-17_fam,prints_IL-17_chr - no_errors IL17B HGNC ENSG00000127743 25 0 0 24 4 14.2857 ARHGEF37 0 genome.wustl.edu 37 5 148980761 148980761 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 148980761 148980761 G T SNP ARHGEF37 ENST00000333677 human ensembl 74_37 +1 known missense c.277 p.A93S 0.183 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF37 HGNC ENSG00000183111 71 0 0 82 6 6.81818 PPARGC1B 0 genome.wustl.edu 37 5 149206304 149206304 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 149206304 149206304 C T SNP PPARGC1B ENST00000309241 human ensembl 74_37 +1 known silent c.321 p.D107 0.718 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1B HGNC ENSG00000155846 88 0 0 66 14 17.5 PDE6A 0 genome.wustl.edu 37 5 149242740 149242740 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 149242740 149242740 G A SNP PDE6A ENST00000255266 human ensembl 74_37 -1 known silent c.2448 p.Y816 0.850 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6A HGNC ENSG00000132915 157 0 0 104 34 24.6377 SLC26A2 0 genome.wustl.edu 37 5 149360038 149360038 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 149360038 149360038 C T SNP SLC26A2 ENST00000286298 human ensembl 74_37 +1 known silent c.882 p.F294 1.000 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A2 HGNC ENSG00000155850 121 0 0 82 21 20.3883 CSF1R 0 genome.wustl.edu 37 5 149439266 149439266 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 149439266 149439266 C T SNP CSF1R ENST00000286301 human ensembl 74_37 -1 known missense c.2129 p.R710H 0.746 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,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_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 123 0 0 100 10 9.09091 CSF1R 0 genome.wustl.edu 37 5 149441338 149441338 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 149441338 149441338 C T SNP CSF1R ENST00000286301 human ensembl 74_37 -1 known silent c.1701 p.T567 0.338 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom 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 102 0 0 77 13 14.4444 CSF1R 0 genome.wustl.edu 37 5 149447825 149447825 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 149447825 149447825 C T SNP CSF1R ENST00000286301 human ensembl 74_37 -1 known missense c.1579 p.A527T 0.996 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors CSF1R HGNC ENSG00000182578 56 0 0 37 9 19.5652 CSF1R 0 genome.wustl.edu 37 5 149459840 149459840 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 149459840 149459840 C T SNP CSF1R ENST00000286301 human ensembl 74_37 -1 known missense c.367 p.A123T 0.099 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 49 0 0 20 11 35.4839 CAMK2A 0 genome.wustl.edu 37 5 149631348 149631348 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 149631348 149631348 G A SNP CAMK2A ENST00000398376 human ensembl 74_37 -1 known missense c.658 p.R220C 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 CAMK2A HGNC ENSG00000070808 19 0 0 18 4 18.1818 TCOF1 0 genome.wustl.edu 37 5 149775932 149775932 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 149775932 149775932 C T SNP TCOF1 ENST00000451292 human ensembl 74_37 +1 known missense c.3980 p.A1327V 0.000 NULL pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 63 0 0 34 14 29.1667 NDST1 0 genome.wustl.edu 37 5 149907766 149907766 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 149907766 149907766 G A SNP NDST1 ENST00000261797 human ensembl 74_37 +1 known missense c.914 p.R305H 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST1 HGNC ENSG00000070614 45 0 0 33 4 10.8108 ANXA6 0 genome.wustl.edu 37 5 150489327 150489327 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 150489327 150489327 C T SNP ANXA6 ENST00000354546 human ensembl 74_37 -1 known silent c.1671 p.P557 0.102 pfam_Annexin_repeat,smart_Annexin_repeat pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinVI,prints_AnnexinIV - no_errors ANXA6 HGNC ENSG00000197043 33 0 0 17 8 32 ANXA6 0 genome.wustl.edu 37 5 150509077 150509077 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 150509077 150509077 C T SNP ANXA6 ENST00000354546 human ensembl 74_37 -1 known missense c.809 p.R270Q 0.863 pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinVI,prints_AnnexinIV - no_errors ANXA6 HGNC ENSG00000197043 15 0 0 8 9 52.9412 FAT2 0 genome.wustl.edu 37 5 150897291 150897291 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 150897291 150897291 G A SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.11353 p.R3785W 0.986 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 91 0 0 52 18 25.7143 FAT2 0 genome.wustl.edu 37 5 150922506 150922506 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 150922506 150922506 G A SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.8182 p.R2728W 0.990 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 83 0 0 57 15 20.8333 SPARC 0 genome.wustl.edu 37 5 151043671 151043671 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 151043671 151043671 G A SNP SPARC ENST00000231061 human ensembl 74_37 -1 known missense c.860 p.A287V 1.000 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 90 0 0 76 14 15.5556 HAND1 0 genome.wustl.edu 37 5 153857252 153857252 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 153857252 153857252 C T SNP HAND1 ENST00000231121 human ensembl 74_37 -1 known missense c.317 p.R106H 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors HAND1 HGNC ENSG00000113196 35 0 0 23 7 23.3333 GEMIN5 0 genome.wustl.edu 37 5 154292517 154292517 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 154292517 154292517 G A SNP GEMIN5 ENST00000285873 human ensembl 74_37 -1 known missense c.1937 p.A646V 0.995 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors GEMIN5 HGNC ENSG00000082516 87 0 0 69 7 9.21053 KIF4B 0 genome.wustl.edu 37 5 154393675 154393675 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 154393675 154393675 G A SNP KIF4B ENST00000435029 human ensembl 74_37 +1 known missense c.256 p.A86T 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 123 0 0 104 10 8.77193 SOX30 0 genome.wustl.edu 37 5 157053375 157053375 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 157053375 157053375 T C SNP SOX30 ENST00000265007 human ensembl 74_37 -1 known silent c.2235 p.E745 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX30 HGNC ENSG00000039600 92 0 0 82 5 5.74713 THG1L 0 genome.wustl.edu 37 5 157159916 157159916 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 157159916 157159916 C T SNP THG1L ENST00000231198 human ensembl 74_37 +1 known missense c.232 p.R78C 1.000 pfam_tRNAHis_GuaTrfase_cat,pirsf_tRNAHis_GuaTrfase_Thg1 pfam_tRNAHis_GuaTrfase_cat,superfamily_Restrct_endonuc-II-like,pirsf_tRNAHis_GuaTrfase_Thg1 - no_errors THG1L HGNC ENSG00000113272 127 0 0 99 28 22.0472 RNF145 0 genome.wustl.edu 37 5 158630640 158630640 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 158630640 158630640 T C SNP RNF145 ENST00000518802 human ensembl 74_37 -1 known missense c.76 p.K26E 0.001 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF145 HGNC ENSG00000145860 49 0 0 22 10 31.25 ADRA1B 0 genome.wustl.edu 37 5 159344141 159344141 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 159344141 159344141 C T SNP ADRA1B ENST00000306675 human ensembl 74_37 +1 known missense c.229 p.R77W 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1B_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA1B HGNC ENSG00000170214 102 0 0 75 26 25.7426 FBXL7 0 genome.wustl.edu 37 5 15936704 15936704 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 15936704 15936704 G A SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known silent c.885 p.A295 0.982 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL7 HGNC ENSG00000183580 33 0 0 25 5 16.6667 CCNJL 0 genome.wustl.edu 37 5 159680757 159680757 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 159680757 159680757 G A SNP CCNJL ENST00000393977 human ensembl 74_37 -1 known silent c.936 p.A312 0.003 superfamily_Cyclin-like pfam_Cyclin_C-dom,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNJL HGNC ENSG00000135083 29 0 0 7 4 36.3636 PLEKHG4B 0 genome.wustl.edu 37 5 162053 162053 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 162053 162053 C T SNP PLEKHG4B ENST00000283426 human ensembl 74_37 +1 known silent c.1575 p.C525 0.108 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 PLEKHG4B HGNC ENSG00000153404 31 0 0 9 9 50 HMMR 0 genome.wustl.edu 37 5 162910329 162910329 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 162910329 162910329 C T SNP HMMR ENST00000393915 human ensembl 74_37 +1 known missense c.1741 p.R581C 1.000 NULL NULL - no_errors HMMR HGNC ENSG00000072571 122 0 0 101 16 13.6752 ENSG00000241956 0 genome.wustl.edu 37 5 164028161 164028161 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 164028161 164028161 G A SNP ENSG00000241956 ENST00000486913 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors CTC-340A15.2 Clone_based_vega_gene ENSG00000241956 16 0 0 16 7 30.4348 MYO10 0 genome.wustl.edu 37 5 16673839 16673839 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 16673839 16673839 G A SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known silent c.5124 p.G1708 0.177 pfam_Ras-assoc,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 35 0 0 36 18 33.3333 TENM2 0 genome.wustl.edu 37 5 167645893 167645893 + Missense_Mutation SNP G G C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 167645893 167645893 G C SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known missense c.4997 p.G1666A 1.000 superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 161 0 0 151 10 6.21118 TENM2 0 genome.wustl.edu 37 5 167673925 167673925 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 167673925 167673925 C T SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known missense c.5981 p.A1994V 1.000 superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 94 0 0 68 6 8.10811 WWC1 0 genome.wustl.edu 37 5 167850827 167850827 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 167850827 167850827 C T SNP WWC1 ENST00000265293 human ensembl 74_37 +1 known missense c.1564 p.R522C 1.000 NULL pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWC1 HGNC ENSG00000113645 26 0 0 24 4 14.2857 RARS 0 genome.wustl.edu 37 5 167944920 167944920 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 167944920 167944920 C T SNP RARS ENST00000231572 human ensembl 74_37 +1 known missense c.1726 p.R576W 1.000 pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd,tigrfam_Arg-tRNA-ligase_Ia pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,pfam_Arg-tRNA-synth_N,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia - no_errors RARS HGNC ENSG00000113643 117 0 0 85 12 12.3711 MYO10 0 genome.wustl.edu 37 5 16818205 16818205 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 16818205 16818205 G A SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known silent c.192 p.G64 0.074 superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 44 0 0 22 5 18.5185 SLIT3 0 genome.wustl.edu 37 5 168671759 168671759 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 168671759 168671759 G A SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known silent c.291 p.V97 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 64 0 0 39 4 9.30233 DOCK2 0 genome.wustl.edu 37 5 169230209 169230209 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 169230209 169230209 C T SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.2702 p.A901V 0.478 superfamily_ARM-type_fold 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 80 0 0 53 17 24.2857 DOCK2 0 genome.wustl.edu 37 5 169463553 169463553 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 169463553 169463553 A G SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.3659 p.Y1220C 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 70 0 0 62 16 20.5128 FOXI1 0 genome.wustl.edu 37 5 169535053 169535053 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 169535053 169535053 G A SNP FOXI1 ENST00000306268 human ensembl 74_37 +1 known missense c.575 p.G192D 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 FOXI1 HGNC ENSG00000168269 70 0 0 37 18 32.7273 NPM1 0 genome.wustl.edu 37 5 170833403 170833403 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 170833403 170833403 G A SNP NPM1 ENST00000393820 human ensembl 74_37 +1 known silent c.774 p.A258 0.726 NULL superfamily_Nucleoplasmin_core_dom - no_errors NPM1 HGNC ENSG00000181163 125 0 0 82 32 28.0702 CPEB4 0 genome.wustl.edu 37 5 173383101 173383101 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 173383101 173383101 C T SNP CPEB4 ENST00000265085 human ensembl 74_37 +1 known silent c.2151 p.G717 0.503 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB4 HGNC ENSG00000113742 61 0 0 54 14 20.5882 HMP19 0 genome.wustl.edu 37 5 173534516 173534516 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 173534516 173534516 C T SNP HMP19 ENST00000521146 human ensembl 74_37 +1 known rna NULL NULL 0.036 - - - no_errors NSG2 Uniprot_gn ENSG00000170091 23 0 0 7 3 30 CPLX2 0 genome.wustl.edu 37 5 175306958 175306958 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 175306958 175306958 C T SNP CPLX2 ENST00000359546 human ensembl 74_37 +1 known silent c.315 p.C105 1.000 pfam_Synaphin pfam_Synaphin - no_errors CPLX2 HGNC ENSG00000145920 22 0 0 10 3 23.0769 THOC3 0 genome.wustl.edu 37 5 175388288 175388288 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 175388288 175388288 C T SNP THOC3 ENST00000265097 human ensembl 74_37 -1 known missense c.779 p.R260Q 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TIF_beta_prop-like,pfam_PD40,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors THOC3 HGNC ENSG00000051596 35 0 0 30 13 30.2326 ENSG00000250992 0 genome.wustl.edu 37 5 175467833 175467833 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 175467833 175467833 C T SNP ENSG00000250992 ENST00000509643 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-826N14.1 Clone_based_vega_gene ENSG00000250992 37 0 0 38 6 13.6364 FAF2 0 genome.wustl.edu 37 5 175919216 175919216 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 175919216 175919216 G A SNP FAF2 ENST00000261942 human ensembl 74_37 +1 known silent c.366 p.R122 1.000 NULL pfam_UBX,superfamily_UBA-like,smart_UAS,pfscan_UBX - no_errors FAF2 HGNC ENSG00000113194 118 0 0 70 27 27.8351 CDHR2 0 genome.wustl.edu 37 5 176011688 176011688 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 176011688 176011688 C T SNP CDHR2 ENST00000261944 human ensembl 74_37 +1 known silent c.2406 p.N802 0.822 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 103 1 0.961538 80 31 27.9279 NSD1 0 genome.wustl.edu 37 5 176638555 176638555 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 176638555 176638555 G A SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known missense c.3155 p.R1052H 0.991 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 218 0 0 137 55 28.6458 NSD1 0 genome.wustl.edu 37 5 176638998 176638998 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 176638998 176638998 C T SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known missense c.3598 p.R1200W 0.195 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 93 0 0 75 12 13.7931 FAM193B 0 genome.wustl.edu 37 5 176965990 176965990 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 176965990 176965990 G A SNP FAM193B ENST00000443375 human ensembl 74_37 -1 known silent c.30 p.G10 1.000 NULL NULL - no_errors FAM193B HGNC ENSG00000146067 95 0 0 53 24 31.1688 B4GALT7 0 genome.wustl.edu 37 5 177035954 177035954 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 177035954 177035954 G A SNP B4GALT7 ENST00000029410 human ensembl 74_37 +1 known missense c.767 p.R256H 0.997 pfam_Galactosyl_T_C pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT7 HGNC ENSG00000027847 83 0 0 72 6 7.69231 CLK4 0 genome.wustl.edu 37 5 178032359 178032359 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 178032359 178032359 C T SNP CLK4 ENST00000316308 human ensembl 74_37 -1 known missense c.1159 p.A387T 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 CLK4 HGNC ENSG00000113240 68 0 0 51 4 7.27273 SQSTM1 0 genome.wustl.edu 37 5 179250014 179250014 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 179250014 179250014 T C SNP SQSTM1 ENST00000389805 human ensembl 74_37 +1 known missense c.262 p.S88P 0.852 pfam_OPR_PB1,smart_OPR_PB1 pfam_Znf_ZZ,pfam_OPR_PB1,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ - no_errors SQSTM1 HGNC ENSG00000161011 69 0 0 40 11 21.5686 MAPK9 0 genome.wustl.edu 37 5 179676011 179676011 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 179676011 179676011 G A SNP MAPK9 ENST00000452135 human ensembl 74_37 -1 known missense c.578 p.A193V 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_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_JNK - no_errors MAPK9 HGNC ENSG00000050748 321 0 0 229 32 12.2605 GFPT2 0 genome.wustl.edu 37 5 179745956 179745956 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 179745956 179745956 G A SNP GFPT2 ENST00000253778 human ensembl 74_37 -1 known silent c.795 p.S265 0.254 tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC ENSG00000131459 51 0 0 45 7 13.4615 IRX4 0 genome.wustl.edu 37 5 1879729 1879729 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 1879729 1879729 G A SNP IRX4 ENST00000231357 human ensembl 74_37 -1 known missense c.625 p.P209S 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX4 HGNC ENSG00000113430 54 0 0 28 14 33.3333 LRRC14B 0 genome.wustl.edu 37 5 194842 194842 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 194842 194842 C T SNP LRRC14B ENST00000328278 human ensembl 74_37 +1 novel nonsense c.919 p.R307* 0.129 NULL NULL - no_errors LRRC14B HGNC ENSG00000185028 25 0 0 19 5 20.8333 CCDC127 0 genome.wustl.edu 37 5 205673 205673 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 205673 205673 G A SNP CCDC127 ENST00000296824 human ensembl 74_37 -1 known silent c.522 p.C174 0.989 NULL NULL - no_errors CCDC127 HGNC ENSG00000164366 62 0 0 50 11 18.0328 CDH12 0 genome.wustl.edu 37 5 21752162 21752162 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 21752162 21752162 C T SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.2069 p.R690H 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 70 0 0 73 13 15.1163 SDHA 0 genome.wustl.edu 37 5 226056 226056 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 226056 226056 C T SNP SDHA ENST00000264932 human ensembl 74_37 +1 known missense c.515 p.A172V 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 120 0 0 120 8 6.25 PRDM9 0 genome.wustl.edu 37 5 23509190 23509190 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 23509190 23509190 G A SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known silent c.48 p.E16 0.003 NULL pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 49 0 0 37 13 26 CDH10 0 genome.wustl.edu 37 5 24492981 24492981 + Missense_Mutation SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 24492981 24492981 T A SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known missense c.1569 p.K523N 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 189 1 0.526316 149 54 26.601 CDH10 0 genome.wustl.edu 37 5 24498629 24498629 + Splice_Site SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 24498629 24498629 C A SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known splice_site c.1394-1 e8-1 1.000 - - - no_errors CDH10 HGNC ENSG00000040731 85 0 0 66 18 21.4286 CDH10 0 genome.wustl.edu 37 5 24505247 24505247 + Missense_Mutation SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 24505247 24505247 T A SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known missense c.1367 p.N456I 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 91 0 0 46 27 36.9863 CDH10 0 genome.wustl.edu 37 5 24535840 24535840 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 24535840 24535840 C A SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known missense c.618 p.Q206H 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 79 0 0 54 20 27.027 CDH9 0 genome.wustl.edu 37 5 26885767 26885767 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 26885767 26885767 G A SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.1838 p.T613M 0.999 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 31 0 0 34 6 15 IRX2 0 genome.wustl.edu 37 5 2748620 2748620 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 2748620 2748620 G A SNP IRX2 ENST00000302057 human ensembl 74_37 -1 known missense c.1202 p.A401V 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX2 HGNC ENSG00000170561 26 0 0 14 3 17.6471 C5orf22 0 genome.wustl.edu 37 5 31541102 31541102 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 31541102 31541102 G A SNP C5orf22 ENST00000325366 human ensembl 74_37 +1 known missense c.854 p.G285D 0.000 superfamily_ICAT superfamily_ICAT - no_errors C5orf22 HGNC ENSG00000082213 96 0 0 81 19 19 PDZD2 0 genome.wustl.edu 37 5 31799525 31799525 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 31799525 31799525 T C SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.170 p.V57A 0.002 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 131 0 0 96 28 22.5806 ZFR 0 genome.wustl.edu 37 5 32380215 32380215 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 32380215 32380215 G A SNP ZFR ENST00000265069 human ensembl 74_37 -1 known missense c.2705 p.A902V 1.000 pfam_DZF,smart_DZF pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR HGNC ENSG00000056097 81 0 0 62 5 7.46269 ZFR 0 genome.wustl.edu 37 5 32415139 32415139 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 32415139 32415139 G A SNP ZFR ENST00000265069 human ensembl 74_37 -1 known missense c.719 p.A240V 1.000 NULL pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR HGNC ENSG00000056097 64 0 0 41 9 18 NPR3 0 genome.wustl.edu 37 5 32712628 32712628 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 32712628 32712628 G A SNP NPR3 ENST00000265074 human ensembl 74_37 +1 known missense c.746 p.R249H 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_Ntpep_rcpt - no_errors NPR3 HGNC ENSG00000113389 117 0 0 107 20 15.748 TARS 0 genome.wustl.edu 37 5 33453456 33453456 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 33453456 33453456 G A SNP TARS ENST00000265112 human ensembl 74_37 +1 known missense c.392 p.R131H 1.000 pfam_TGS,superfamily_TGS-like pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS HGNC ENSG00000113407 123 0 0 107 21 16.4062 RXFP3 0 genome.wustl.edu 37 5 33937066 33937066 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 33937066 33937066 C T SNP RXFP3 ENST00000330120 human ensembl 74_37 +1 known missense c.221 p.A74V 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 27 0 0 10 4 28.5714 RXFP3 0 genome.wustl.edu 37 5 33938061 33938061 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 33938061 33938061 C T SNP RXFP3 ENST00000330120 human ensembl 74_37 +1 known missense c.1216 p.R406C 0.994 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 32 0 0 41 5 10.8696 TTC23L 0 genome.wustl.edu 37 5 34850347 34850347 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 34850347 34850347 G T SNP TTC23L ENST00000505624 human ensembl 74_37 +1 known missense c.313 p.G105W 1.000 NULL NULL - no_errors TTC23L HGNC ENSG00000205838 197 0 0 165 42 20.2899 SKP2 0 genome.wustl.edu 37 5 36168477 36168477 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 36168477 36168477 G A SNP SKP2 ENST00000274255 human ensembl 74_37 +1 known missense c.599 p.G200D 0.017 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors SKP2 HGNC ENSG00000145604 251 1 0.396825 200 34 14.5299 NIPBL 0 genome.wustl.edu 37 5 37006526 37006526 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 37006526 37006526 C T SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.3923 p.A1308V 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 121 0 0 75 14 15.7303 NIPBL 0 genome.wustl.edu 37 5 37064103 37064103 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 37064103 37064103 G A SNP NIPBL ENST00000448238 human ensembl 74_37 +1 known missense c.8072 p.R2691H 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 42 0 0 18 13 41.9355 C5orf42 0 genome.wustl.edu 37 5 37196023 37196023 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 37196023 37196023 C T SNP C5orf42 ENST00000425232 human ensembl 74_37 -1 known missense c.3748 p.A1250T 0.000 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 90 0 0 66 12 15.3846 RICTOR 0 genome.wustl.edu 37 5 39002706 39002706 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 39002706 39002706 C T SNP RICTOR ENST00000296782 human ensembl 74_37 -1 known missense c.323 p.R108Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 149 0 0 164 10 5.74713 C9 0 genome.wustl.edu 37 5 39341719 39341719 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 39341719 39341719 C T SNP C9 ENST00000263408 human ensembl 74_37 -1 known silent c.267 p.V89 0.023 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt 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 95 0 0 61 19 23.75 DAB2 0 genome.wustl.edu 37 5 39388941 39388941 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 39388941 39388941 G A SNP DAB2 ENST00000320816 human ensembl 74_37 -1 known missense c.584 p.A195V 0.001 pfscan_PTB/PI_dom pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB2 HGNC ENSG00000153071 95 0 0 99 12 10.8108 C7 0 genome.wustl.edu 37 5 40959677 40959677 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 40959677 40959677 C T SNP C7 ENST00000313164 human ensembl 74_37 +1 known missense c.1616 p.T539M 0.006 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,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,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C7 HGNC ENSG00000112936 40 0 0 32 4 11.1111 FBXO4 0 genome.wustl.edu 37 5 41927346 41927346 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 41927346 41927346 G A SNP FBXO4 ENST00000281623 human ensembl 74_37 +1 known missense c.421 p.A141T 0.996 superfamily_F-box_dom pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO4 HGNC ENSG00000151876 90 0 0 76 9 10.5882 CCL28 0 genome.wustl.edu 37 5 43388544 43388544 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 43388544 43388544 C T SNP CCL28 ENST00000361115 human ensembl 74_37 -1 known silent c.99 p.E33 0.892 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom - no_errors CCL28 HGNC ENSG00000151882 80 0 0 72 9 11.1111 C5orf34 0 genome.wustl.edu 37 5 43494677 43494677 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 43494677 43494677 A G SNP C5orf34 ENST00000306862 human ensembl 74_37 -1 known silent c.1179 p.N393 1.000 NULL NULL - no_errors C5orf34 HGNC ENSG00000172244 64 0 0 53 7 11.6667 FGF10 0 genome.wustl.edu 37 5 44305128 44305128 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 44305128 44305128 G A SNP FGF10 ENST00000264664 human ensembl 74_37 -1 known missense c.596 p.A199V 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF10 HGNC ENSG00000070193 142 0 0 121 34 21.9355 MRPS30 0 genome.wustl.edu 37 5 44811197 44811197 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 44811197 44811197 C T SNP MRPS30 ENST00000507110 human ensembl 74_37 +1 known nonsense c.688 p.R230* 0.371 pfam_Ribosomal_L37/S30 pfam_Ribosomal_L37/S30 - no_errors MRPS30 HGNC ENSG00000112996 131 0 0 93 25 21.1864 HCN1 0 genome.wustl.edu 37 5 45267276 45267276 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 45267276 45267276 C T SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known silent c.1698 p.V566 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 114 0 0 99 37 27.2059 EXOC3 0 genome.wustl.edu 37 5 453727 453727 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 453727 453727 C T SNP EXOC3 ENST00000315013 human ensembl 74_37 +1 known missense c.607 p.R203C 1.000 pfam_Sec6 pfam_Sec6 - no_errors EXOC3 HGNC ENSG00000180104 80 0 0 90 5 5.26316 SLC9A3 0 genome.wustl.edu 37 5 492080 492080 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 492080 492080 C T SNP SLC9A3 ENST00000264938 human ensembl 74_37 -1 known silent c.318 p.A106 0.995 pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_dom,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A3 HGNC ENSG00000066230 15 0 0 12 6 33.3333 PELO 0 genome.wustl.edu 37 5 52096901 52096901 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 52096901 52096901 G A SNP PELO ENST00000274311 human ensembl 74_37 +1 known missense c.673 p.A225T 1.000 pfam_eRF1_2,tigrfam_Transl_rel_pelota-like pfam_eRF1_1_Pelota,pfam_eRF1_2,pfam_eRF1_3,tigrfam_Transl_rel_pelota-like - no_errors PELO HGNC ENSG00000152684 78 0 0 63 16 20.2532 SNX18 0 genome.wustl.edu 37 5 53815142 53815142 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 53815142 53815142 C T SNP SNX18 ENST00000326277 human ensembl 74_37 +1 known missense c.1360 p.R454C 1.000 pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9 pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX18 HGNC ENSG00000178996 61 0 0 41 8 16.3265 KIAA0947 0 genome.wustl.edu 37 5 5461451 5461451 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 5461451 5461451 G A SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known silent c.2004 p.P668 0.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 89 0 0 56 7 11.1111 KIAA0947 0 genome.wustl.edu 37 5 5464600 5464600 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 5464600 5464600 C T SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known missense c.5153 p.A1718V 0.999 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 77 0 0 60 14 18.9189 KIAA0947 0 genome.wustl.edu 37 5 5489418 5489418 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 5489418 5489418 C T SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known missense c.6776 p.A2259V 0.000 superfamily_Vitellinogen_superhlx superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 35 0 0 26 4 13.3333 DDX4 0 genome.wustl.edu 37 5 55082359 55082359 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 55082359 55082359 C T SNP DDX4 ENST00000505374 human ensembl 74_37 +1 known missense c.878 p.A293V 1.000 superfamily_P-loop_NTPase,pfscan_RNA_helicase_DEAD_Q_motif 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 DDX4 HGNC ENSG00000152670 58 0 0 61 4 6.15385 MAP3K1 0 genome.wustl.edu 37 5 56155650 56155650 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 56155650 56155650 C T SNP MAP3K1 ENST00000399503 human ensembl 74_37 +1 novel nonsense c.742 p.R248* 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom - no_errors MAP3K1 HGNC ENSG00000095015 41 0 0 28 7 20 MAP3K1 0 genome.wustl.edu 37 5 56160643 56160643 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 56160643 56160643 G A SNP MAP3K1 ENST00000399503 human ensembl 74_37 +1 novel missense c.917 p.R306H 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom - no_errors MAP3K1 HGNC ENSG00000095015 71 0 0 80 10 11.1111 GPBP1 0 genome.wustl.edu 37 5 56542211 56542211 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 56542211 56542211 T C SNP GPBP1 ENST00000424459 human ensembl 74_37 +1 known missense c.623 p.F208S 1.000 NULL NULL - no_errors GPBP1 HGNC ENSG00000062194 78 0 0 82 10 10.8696 RAB3C 0 genome.wustl.edu 37 5 58120962 58120962 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 58120962 58120962 C T SNP RAB3C ENST00000282878 human ensembl 74_37 +1 known nonsense c.469 p.R157* 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB3C HGNC ENSG00000152932 75 0 0 44 16 26.6667 FLJ33360 0 genome.wustl.edu 37 5 6337301 6337301 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 6337301 6337301 C T SNP FLJ33360 ENST00000507444 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CTD-2324F15.2 Clone_based_vega_gene ENSG00000250490 139 0 0 102 30 22.7273 NLN 0 genome.wustl.edu 37 5 65118709 65118709 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 65118709 65118709 C T SNP NLN ENST00000380985 human ensembl 74_37 +1 known missense c.2081 p.A694V 1.000 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors NLN HGNC ENSG00000123213 133 0 0 91 32 26.0163 ERBB2IP 0 genome.wustl.edu 37 5 65340041 65340041 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 65340041 65340041 T C SNP ERBB2IP ENST00000284037 human ensembl 74_37 +1 known missense c.1505 p.V502A 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 110 0 0 100 6 5.66038 ERBB2IP 0 genome.wustl.edu 37 5 65349316 65349316 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 65349316 65349316 G A SNP ERBB2IP ENST00000284037 human ensembl 74_37 +1 known missense c.2170 p.D724N 0.982 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 110 0 0 83 27 24.5455 MAST4 0 genome.wustl.edu 37 5 66396393 66396393 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 66396393 66396393 C A SNP MAST4 ENST00000404260 human ensembl 74_37 +1 known missense c.1052 p.P351Q 0.380 pfam_MA_Ser/Thr_Kinase_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST4 HGNC ENSG00000069020 82 0 0 60 24 28.5714 MAST4 0 genome.wustl.edu 37 5 66460439 66460439 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 66460439 66460439 C T SNP MAST4 ENST00000404260 human ensembl 74_37 +1 known missense c.5441 p.S1814F 0.995 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST4 HGNC ENSG00000069020 107 0 0 78 10 11.3636 BDP1 0 genome.wustl.edu 37 5 70805292 70805292 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 70805292 70805292 C T SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known silent c.2373 p.S791 0.615 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 118 0 0 90 8 8.16327 CARTPT 0 genome.wustl.edu 37 5 71016372 71016372 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 71016372 71016372 C T SNP CARTPT ENST00000296777 human ensembl 74_37 +1 known missense c.281 p.A94V 1.000 pfam_CART,superfamily_CART pfam_CART,superfamily_CART - no_errors CARTPT HGNC ENSG00000164326 27 0 0 27 6 18.1818 MAP1B 0 genome.wustl.edu 37 5 71491738 71491738 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 71491738 71491738 G T SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known missense c.2556 p.K852N 0.952 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 253 0 0 232 28 10.7692 ZNF366 0 genome.wustl.edu 37 5 71743088 71743088 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 71743088 71743088 G A SNP ZNF366 ENST00000318442 human ensembl 74_37 -1 known missense c.1681 p.R561W 0.996 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF366 HGNC ENSG00000178175 87 0 0 46 16 25.8065 TMEM171 0 genome.wustl.edu 37 5 72427511 72427511 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 72427511 72427511 C T SNP TMEM171 ENST00000454765 human ensembl 74_37 +1 known missense c.929 p.A310V 0.013 NULL NULL - no_errors TMEM171 HGNC ENSG00000157111 123 0 0 92 28 23.3333 ARHGEF28 0 genome.wustl.edu 37 5 73069726 73069726 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 73069726 73069726 C T SNP ARHGEF28 ENST00000545377 human ensembl 74_37 +1 known silent c.522 p.G174 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF28 HGNC ENSG00000214944 14 0 0 13 5 27.7778 ENC1 0 genome.wustl.edu 37 5 73931937 73931937 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 73931937 73931937 T C SNP ENC1 ENST00000302351 human ensembl 74_37 -1 known missense c.374 p.D125G 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors ENC1 HGNC ENSG00000171617 108 0 0 80 24 23.0769 IQGAP2 0 genome.wustl.edu 37 5 75893291 75893291 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 75893291 75893291 C T SNP IQGAP2 ENST00000274364 human ensembl 74_37 +1 known missense c.935 p.A312V 0.884 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP2 HGNC ENSG00000145703 59 0 0 46 6 11.5385 IQGAP2 0 genome.wustl.edu 37 5 75948620 75948620 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 75948620 75948620 C T SNP IQGAP2 ENST00000274364 human ensembl 74_37 +1 known missense c.2140 p.R714W 0.868 superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP2 HGNC ENSG00000145703 126 0 0 91 23 20.1754 IQGAP2 0 genome.wustl.edu 37 5 75967720 75967720 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 75967720 75967720 G A SNP IQGAP2 ENST00000274364 human ensembl 74_37 +1 known missense c.2980 p.D994N 0.997 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP2 HGNC ENSG00000145703 60 0 0 50 15 23.0769 WDR41 0 genome.wustl.edu 37 5 76729078 76729078 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 76729078 76729078 G A SNP WDR41 ENST00000296679 human ensembl 74_37 -1 known missense c.1262 p.T421M 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR41 HGNC ENSG00000164253 72 0 0 50 16 24.2424 BHMT2 0 genome.wustl.edu 37 5 78379533 78379533 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 78379533 78379533 C T SNP BHMT2 ENST00000255192 human ensembl 74_37 +1 known silent c.864 p.G288 0.182 pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase - no_errors BHMT2 HGNC ENSG00000132840 42 0 0 35 9 20.4545 BHMT 0 genome.wustl.edu 37 5 78415085 78415085 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 78415085 78415085 G A SNP BHMT ENST00000274353 human ensembl 74_37 +1 known missense c.170 p.R57H 1.000 pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase - no_errors BHMT HGNC ENSG00000145692 105 1 0.943396 77 8 9.41176 THBS4 0 genome.wustl.edu 37 5 79357547 79357547 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 79357547 79357547 G A SNP THBS4 ENST00000350881 human ensembl 74_37 +1 known silent c.1017 p.V339 0.983 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS4 HGNC ENSG00000113296 85 0 0 68 7 9.33333 SERINC5 0 genome.wustl.edu 37 5 79498704 79498704 + Splice_Site SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 79498704 79498704 C T SNP SERINC5 ENST00000509193 human ensembl 74_37 -1 known splice_site c.195+1 e2+1 1.000 - - - no_errors SERINC5 HGNC ENSG00000164300 69 0 0 57 5 8.06452 ZFYVE16 0 genome.wustl.edu 37 5 79733039 79733039 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 79733039 79733039 G A SNP ZFYVE16 ENST00000338008 human ensembl 74_37 +1 known missense c.535 p.D179N 0.877 pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE16 HGNC ENSG00000039319 102 0 0 64 10 13.5135 CKMT2 0 genome.wustl.edu 37 5 80548572 80548572 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 80548572 80548572 G A SNP CKMT2 ENST00000254035 human ensembl 74_37 +1 known missense c.211 p.A71T 0.056 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 69 0 0 51 25 32.8947 XRCC4 0 genome.wustl.edu 37 5 82406986 82406986 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 82406986 82406986 T C SNP XRCC4 ENST00000338635 human ensembl 74_37 +1 known silent c.279 p.C93 0.765 pfam_DNA_repair_prot_XRCC4,superfamily_XRCC4_N pfam_DNA_repair_prot_XRCC4,superfamily_XRCC4_N - no_errors XRCC4 HGNC ENSG00000152422 58 0 0 37 13 26 NBPF22P 0 genome.wustl.edu 37 5 85592175 85592175 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 85592175 85592175 C T SNP NBPF22P ENST00000590707 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors NBPF22P HGNC ENSG00000205449 26 0 0 11 8 42.1053 MEF2C 0 genome.wustl.edu 37 5 88100421 88100421 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 88100421 88100421 G A SNP MEF2C ENST00000437473 human ensembl 74_37 -1 known silent c.252 p.I84 0.999 superfamily_TF_MADSbox pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,prints_TF_MADSbox,pfscan_TF_MADSbox - no_errors MEF2C HGNC ENSG00000081189 47 0 0 49 6 10.9091 NR2F1 0 genome.wustl.edu 37 5 92929574 92929574 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 92929574 92929574 G A SNP NR2F1 ENST00000506162 human ensembl 74_37 +1 putative rna NULL NULL 0.004 - - - no_errors NR2F1 HGNC ENSG00000175745 73 0 0 32 21 39.6226 MCTP1 0 genome.wustl.edu 37 5 94267673 94267673 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 94267673 94267673 C T SNP MCTP1 ENST00000515393 human ensembl 74_37 -1 known nonsense c.1197 p.W399* 1.000 NULL pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom - no_errors MCTP1 HGNC ENSG00000175471 190 0 0 170 44 20.5607 RHOBTB3 0 genome.wustl.edu 37 5 95072640 95072640 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 95072640 95072640 C T SNP RHOBTB3 ENST00000379982 human ensembl 74_37 +1 known silent c.276 p.G92 0.002 pfam_Small_GTPase,superfamily_P-loop_NTPase pfam_BTB_POZ,pfam_Small_GTPase,superfamily_BTB/POZ_fold,superfamily_P-loop_NTPase,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors RHOBTB3 HGNC ENSG00000164292 99 0 0 65 19 22.619 PCSK1 0 genome.wustl.edu 37 5 95728946 95728946 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 95728946 95728946 G A SNP PCSK1 ENST00000311106 human ensembl 74_37 -1 known missense c.2021 p.A674V 1.000 NULL pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_Proho_convert,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK1 HGNC ENSG00000175426 80 0 0 53 18 25.3521 CHD1 0 genome.wustl.edu 37 5 98232112 98232112 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 98232112 98232112 G T SNP CHD1 ENST00000284049 human ensembl 74_37 -1 known missense c.1528 p.L510I 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC ENSG00000153922 70 0 0 44 13 22.807 CHD1 0 genome.wustl.edu 37 5 98240797 98240797 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 98240797 98240797 G A SNP CHD1 ENST00000284049 human ensembl 74_37 -1 known missense c.59 p.S20L 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC ENSG00000153922 120 0 0 76 24 24 PRDM13 0 genome.wustl.edu 37 6 100062403 100062403 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 100062403 100062403 G A SNP PRDM13 ENST00000369215 human ensembl 74_37 +1 known missense c.1892 p.R631H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM13 HGNC ENSG00000112238 25 0 0 18 9 33.3333 MCHR2 0 genome.wustl.edu 37 6 100403950 100403950 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 100403950 100403950 G T SNP MCHR2 ENST00000281806 human ensembl 74_37 -1 known missense c.74 p.A25D 0.994 prints_MCH2_receptor 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 135 0 0 124 12 8.82353 SIM1 0 genome.wustl.edu 37 6 100897563 100897563 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 100897563 100897563 C T SNP SIM1 ENST00000262901 human ensembl 74_37 -1 known missense c.361 p.G121R 1.000 pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors SIM1 HGNC ENSG00000112246 34 0 0 27 8 22.8571 ASCC3 0 genome.wustl.edu 37 6 101109778 101109778 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 101109778 101109778 C T SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known silent c.2607 p.T869 0.049 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 151 0 0 135 26 16.1491 ASCC3 0 genome.wustl.edu 37 6 101165958 101165958 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 101165958 101165958 G A SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known missense c.2072 p.A691V 1.000 superfamily_P-loop_NTPase 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 99 0 0 76 5 6.17284 ASCC3 0 genome.wustl.edu 37 6 101215064 101215064 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 101215064 101215064 C T SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known missense c.1553 p.R518H 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,pfscan_Helicase_ATP-bd 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 109 0 0 91 13 12.5 GRIK2 0 genome.wustl.edu 37 6 101847167 101847167 + Missense_Mutation SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 101847167 101847167 T A SNP GRIK2 ENST00000421544 human ensembl 74_37 +1 known missense c.14 p.F5Y 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 93 0 0 65 10 13.3333 GRIK2 0 genome.wustl.edu 37 6 102074360 102074360 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 102074360 102074360 T C SNP GRIK2 ENST00000421544 human ensembl 74_37 +1 known missense c.389 p.I130T 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 140 0 0 116 16 12.1212 HACE1 0 genome.wustl.edu 37 6 105244857 105244857 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 105244857 105244857 C T SNP HACE1 ENST00000262903 human ensembl 74_37 -1 known missense c.661 p.A221T 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_HECT,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT,prints_Ankyrin_rpt - no_errors HACE1 HGNC ENSG00000085382 80 0 0 66 9 12 POPDC3 0 genome.wustl.edu 37 6 105609713 105609713 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 105609713 105609713 C A SNP POPDC3 ENST00000254765 human ensembl 74_37 -1 known missense c.72 p.E24D 0.997 NULL pfam_Popeye_prot,superfamily_cNMP-bd-like - no_errors POPDC3 HGNC ENSG00000132429 117 0 0 96 31 24.4094 PREP 0 genome.wustl.edu 37 6 105730445 105730445 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 105730445 105730445 G A SNP PREP ENST00000369110 human ensembl 74_37 -1 known missense c.1562 p.A521V 1.000 pfam_Peptidase_S9 pfam_Pept_S9A_N,pfam_Peptidase_S9,prints_Peptidase_S9A - no_errors PREP HGNC ENSG00000085377 130 0 0 127 19 13.0137 PREP 0 genome.wustl.edu 37 6 105736746 105736746 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 105736746 105736746 A G SNP PREP ENST00000369110 human ensembl 74_37 -1 known silent c.1341 p.G447 1.000 NULL pfam_Pept_S9A_N,pfam_Peptidase_S9,prints_Peptidase_S9A - no_errors PREP HGNC ENSG00000085377 79 0 0 57 16 21.9178 GCNT2 0 genome.wustl.edu 37 6 10586430 10586430 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 10586430 10586430 C T SNP GCNT2 ENST00000265012 human ensembl 74_37 +1 known nonsense c.208 p.R70* 0.002 NULL pfam_Glyco_trans_14 - no_errors GCNT2 HGNC ENSG00000111846 138 0 0 148 10 6.32911 PRDM1 0 genome.wustl.edu 37 6 106553770 106553770 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 106553770 106553770 G A SNP PRDM1 ENST00000369096 human ensembl 74_37 +1 known missense c.1735 p.V579I 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM1 HGNC ENSG00000057657 83 0 0 69 7 9.21053 SOBP 0 genome.wustl.edu 37 6 107956476 107956476 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 107956476 107956476 G A SNP SOBP ENST00000317357 human ensembl 74_37 +1 known missense c.2428 p.A810T 1.000 NULL NULL - no_errors SOBP HGNC ENSG00000112320 60 0 0 50 21 29.5775 MAK 0 genome.wustl.edu 37 6 10809075 10809075 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 10809075 10809075 C T SNP MAK ENST00000313243 human ensembl 74_37 -1 known silent c.459 p.Q153 0.999 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAK HGNC ENSG00000111837 141 0 0 150 27 15.2542 GCM2 0 genome.wustl.edu 37 6 10875058 10875058 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 10875058 10875058 G A SNP GCM2 ENST00000379491 human ensembl 74_37 -1 known missense c.691 p.P231S 0.789 NULL pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM2 HGNC ENSG00000124827 86 0 0 93 7 7 FOXO3 0 genome.wustl.edu 37 6 108984700 108984700 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 108984700 108984700 C T SNP FOXO3 ENST00000343882 human ensembl 74_37 +1 known missense c.664 p.R222W 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 FOXO3 HGNC ENSG00000118689 52 0 0 48 14 22.5806 SYCP2L 0 genome.wustl.edu 37 6 10924769 10924769 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 10924769 10924769 G A SNP SYCP2L ENST00000283141 human ensembl 74_37 +1 known silent c.1113 p.K371 0.572 NULL NULL - no_errors SYCP2L HGNC ENSG00000153157 58 0 0 56 9 13.8462 SYCP2L 0 genome.wustl.edu 37 6 10924823 10924823 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 10924823 10924823 G A SNP SYCP2L ENST00000283141 human ensembl 74_37 +1 known silent c.1167 p.L389 0.032 NULL NULL - no_errors SYCP2L HGNC ENSG00000153157 49 0 0 39 8 17.0213 FIG4 0 genome.wustl.edu 37 6 110146311 110146311 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 110146311 110146311 C T SNP FIG4 ENST00000230124 human ensembl 74_37 +1 known missense c.2567 p.S856L 0.997 NULL pfam_Syja_N,pfscan_Syja_N - no_errors FIG4 HGNC ENSG00000112367 141 0 0 152 8 5 WASF1 0 genome.wustl.edu 37 6 110421800 110421800 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 110421800 110421800 C T SNP WASF1 ENST00000359451 human ensembl 74_37 -1 known silent c.1605 p.L535 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF1 HGNC ENSG00000112290 60 0 0 56 14 20 CDC40 0 genome.wustl.edu 37 6 110547422 110547422 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 110547422 110547422 C T SNP CDC40 ENST00000307731 human ensembl 74_37 +1 known missense c.1393 p.P465S 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CDC40 HGNC ENSG00000168438 83 0 0 89 5 5.31915 SLC22A16 0 genome.wustl.edu 37 6 110746270 110746270 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 110746270 110746270 C T SNP SLC22A16 ENST00000368919 human ensembl 74_37 -1 known missense c.1540 p.A514T 0.402 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A16 HGNC ENSG00000004809 94 0 0 71 16 18.3908 NEDD9 0 genome.wustl.edu 37 6 11190445 11190445 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 11190445 11190445 C T SNP NEDD9 ENST00000379446 human ensembl 74_37 -1 known missense c.1657 p.A553T 0.976 pfam_Serine_rich pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NEDD9 HGNC ENSG00000111859 132 0 0 107 6 5.30973 LAMA4 0 genome.wustl.edu 37 6 112460964 112460964 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 112460964 112460964 G A SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known missense c.3100 p.P1034S 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 146 0 0 129 31 19.375 HDAC2 0 genome.wustl.edu 37 6 114266574 114266574 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 114266574 114266574 G T SNP HDAC2 ENST00000398283 human ensembl 74_37 -1 known missense c.1325 p.P442H 1.000 NULL pfam_His_deacetylse_dom,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC2 HGNC ENSG00000196591 151 0 0 145 10 6.45161 HS3ST5 0 genome.wustl.edu 37 6 114379185 114379185 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 114379185 114379185 C T SNP HS3ST5 ENST00000312719 human ensembl 74_37 -1 known missense c.277 p.A93T 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST5 HGNC ENSG00000249853 64 0 0 64 21 24.7059 HS3ST5 0 genome.wustl.edu 37 6 114379236 114379236 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 114379236 114379236 C T SNP HS3ST5 ENST00000312719 human ensembl 74_37 -1 known missense c.226 p.A76T 0.996 superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST5 HGNC ENSG00000249853 46 0 0 42 8 16 TSPYL4 0 genome.wustl.edu 37 6 116574209 116574209 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 116574209 116574209 G A SNP TSPYL4 ENST00000420283 human ensembl 74_37 -1 known silent c.963 p.G321 0.436 pfam_NAP_family pfam_NAP_family - no_errors TSPYL4 HGNC ENSG00000187189 61 0 0 61 8 11.5942 SLC35F1 0 genome.wustl.edu 37 6 118475668 118475668 + Silent SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 118475668 118475668 C A SNP SLC35F1 ENST00000360388 human ensembl 74_37 +1 known silent c.234 p.G78 1.000 pfam_SLC35_F1/F2/F6 pfam_SLC35_F1/F2/F6,pfam_DMT - no_errors SLC35F1 HGNC ENSG00000196376 171 0 0 162 37 18.593 CEP85L 0 genome.wustl.edu 37 6 118790423 118790423 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 118790423 118790423 C T SNP CEP85L ENST00000368488 human ensembl 74_37 -1 known missense c.2075 p.G692D 0.017 NULL NULL - no_errors CEP85L HGNC ENSG00000111860 156 0 0 149 22 12.8655 CEP85L 0 genome.wustl.edu 37 6 118801652 118801652 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 118801652 118801652 G A SNP CEP85L ENST00000368488 human ensembl 74_37 -1 known silent c.1779 p.C593 0.992 NULL NULL - no_errors CEP85L HGNC ENSG00000111860 120 0 0 112 15 11.811 MCM9 0 genome.wustl.edu 37 6 119238739 119238739 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 119238739 119238739 G A SNP MCM9 ENST00000316316 human ensembl 74_37 -1 known silent c.891 p.S297 0.212 smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,prints_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase - no_errors MCM9 HGNC ENSG00000111877 119 0 0 90 19 17.4312 GJA1 0 genome.wustl.edu 37 6 121768421 121768421 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 121768421 121768421 G A SNP GJA1 ENST00000282561 human ensembl 74_37 +1 known missense c.428 p.G143D 1.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43 - no_errors GJA1 HGNC ENSG00000152661 151 0 0 137 10 6.80272 EDN1 0 genome.wustl.edu 37 6 12296243 12296243 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 12296243 12296243 G T SNP EDN1 ENST00000379375 human ensembl 74_37 +1 known missense c.582 p.K194N 0.979 NULL pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D - no_errors EDN1 HGNC ENSG00000078401 219 0 0 151 30 16.5746 FABP7 0 genome.wustl.edu 37 6 123104893 123104893 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 123104893 123104893 G A SNP FABP7 ENST00000368444 human ensembl 74_37 +1 known missense c.380 p.R127H 1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP7 HGNC ENSG00000164434 95 0 0 80 5 5.88235 RNF217 0 genome.wustl.edu 37 6 125379190 125379190 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 125379190 125379190 C T SNP RNF217 ENST00000560949 human ensembl 74_37 +1 known missense c.514 p.R172C 1.000 smart_Znf_C6HC pfam_Znf_C6HC,smart_Znf_C6HC - no_errors RNF217 HGNC ENSG00000146373 65 0 0 62 11 15.0685 TPD52L1 0 genome.wustl.edu 37 6 125550412 125550412 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 125550412 125550412 C T SNP TPD52L1 ENST00000534000 human ensembl 74_37 +1 known missense c.284 p.A95V 1.000 pfam_TPD52 pfam_TPD52 - no_errors TPD52L1 HGNC ENSG00000111907 104 0 0 82 9 9.89011 KIAA0408 0 genome.wustl.edu 37 6 127767937 127767937 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 127767937 127767937 A G SNP KIAA0408 ENST00000483725 human ensembl 74_37 -1 novel silent c.1527 p.P509 0.000 NULL NULL - no_errors KIAA0408 HGNC ENSG00000189367 53 0 0 67 9 11.8421 SOGA3 0 genome.wustl.edu 37 6 127796499 127796499 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 127796499 127796499 C T SNP SOGA3 ENST00000368268 human ensembl 74_37 -1 known missense c.2672 p.R891H 1.000 NULL pfam_SOGA - no_errors SOGA3 HGNC ENSG00000214338 53 0 0 34 8 19.0476 SOGA3 0 genome.wustl.edu 37 6 127796980 127796980 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 127796980 127796980 A G SNP SOGA3 ENST00000368268 human ensembl 74_37 -1 known missense c.2191 p.S731P 1.000 NULL pfam_SOGA - no_errors SOGA3 HGNC ENSG00000214338 45 0 0 47 9 16.0714 SOGA3 0 genome.wustl.edu 37 6 127797299 127797299 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 127797299 127797299 G A SNP SOGA3 ENST00000368268 human ensembl 74_37 -1 known silent c.1872 p.G624 0.985 NULL pfam_SOGA - no_errors SOGA3 HGNC ENSG00000214338 116 0 0 89 42 32.0611 C6orf58 0 genome.wustl.edu 37 6 127911356 127911356 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 127911356 127911356 C T SNP C6orf58 ENST00000329722 human ensembl 74_37 +1 known missense c.799 p.P267S 0.820 pfam_DUF781 pfam_DUF781 - no_errors C6orf58 HGNC ENSG00000184530 164 0 0 150 45 23.0769 THEMIS 0 genome.wustl.edu 37 6 128134766 128134766 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 128134766 128134766 G A SNP THEMIS ENST00000543064 human ensembl 74_37 -1 known silent c.1020 p.G340 0.998 NULL NULL - no_errors THEMIS HGNC ENSG00000172673 104 0 0 97 14 12.6126 PHACTR1 0 genome.wustl.edu 37 6 12933967 12933967 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 12933967 12933967 G A SNP PHACTR1 ENST00000379348 human ensembl 74_37 +1 known missense c.353 p.G118D 0.000 NULL NULL - no_errors PHACTR1 HGNC ENSG00000112137 106 0 0 99 8 7.47664 LAMA2 0 genome.wustl.edu 37 6 129465081 129465081 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 129465081 129465081 C T SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known silent c.675 p.A225 0.990 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 71 0 0 73 18 19.7802 L3MBTL3 0 genome.wustl.edu 37 6 130372535 130372535 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 130372535 130372535 C A SNP L3MBTL3 ENST00000361794 human ensembl 74_37 +1 known missense c.431 p.A144D 0.998 NULL pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL3 HGNC ENSG00000198945 127 0 0 130 7 5.10949 SAMD3 0 genome.wustl.edu 37 6 130465849 130465849 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 130465849 130465849 T C SNP SAMD3 ENST00000368134 human ensembl 74_37 -1 known missense c.1379 p.D460G 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD3 HGNC ENSG00000164483 69 0 0 78 21 21.2121 TAAR6 0 genome.wustl.edu 37 6 132891588 132891588 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 132891588 132891588 C T SNP TAAR6 ENST00000275198 human ensembl 74_37 +1 known missense c.128 p.A43V 0.029 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_TAAR_fam - no_errors TAAR6 HGNC ENSG00000146383 109 0 0 83 19 18.6275 TAAR5 0 genome.wustl.edu 37 6 132910431 132910431 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 132910431 132910431 C T SNP TAAR5 ENST00000258034 human ensembl 74_37 -1 known missense c.395 p.R132H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_TAAR_fam - no_errors TAAR5 HGNC ENSG00000135569 93 0 0 71 16 18.3908 TAAR5 0 genome.wustl.edu 37 6 132910625 132910625 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 132910625 132910625 C T SNP TAAR5 ENST00000258034 human ensembl 74_37 -1 known silent c.201 p.T67 0.046 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_TAAR_fam pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_TAAR_fam - no_errors TAAR5 HGNC ENSG00000135569 132 1 0.75188 98 26 20.9677 TBC1D7 0 genome.wustl.edu 37 6 13307631 13307631 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 13307631 13307631 G A SNP TBC1D7 ENST00000607532 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TBC1D7 HGNC ENSG00000145979 24 0 0 17 5 22.7273 EYA4 0 genome.wustl.edu 37 6 133789774 133789774 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 133789774 133789774 C T SNP EYA4 ENST00000355167 human ensembl 74_37 +1 known missense c.875 p.A292V 0.998 NULL pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 111 0 0 88 23 20.7207 SLC2A12 0 genome.wustl.edu 37 6 134350436 134350436 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 134350436 134350436 A G SNP SLC2A12 ENST00000275230 human ensembl 74_37 -1 known missense c.527 p.V176A 0.998 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt - no_errors SLC2A12 HGNC ENSG00000146411 112 1 0.884956 88 13 12.8713 RANBP9 0 genome.wustl.edu 37 6 13638133 13638133 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 13638133 13638133 C T SNP RANBP9 ENST00000011619 human ensembl 74_37 -1 known missense c.1580 p.C527Y 1.000 NULL pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RANBP9 HGNC ENSG00000010017 82 0 0 79 14 15.0538 BCLAF1 0 genome.wustl.edu 37 6 136597397 136597397 + Missense_Mutation SNP A A T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 136597397 136597397 A T SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known missense c.1266 p.S422R 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 288 0 0 262 35 11.7845 PEX7 0 genome.wustl.edu 37 6 137187847 137187847 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 137187847 137187847 T C SNP PEX7 ENST00000318471 human ensembl 74_37 +1 known silent c.609 p.S203 0.805 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PEX7 HGNC ENSG00000112357 56 0 0 55 4 6.77966 KIAA1244 0 genome.wustl.edu 37 6 138655785 138655785 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 138655785 138655785 C T SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known silent c.5802 p.G1934 0.896 NULL pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 41 0 0 48 7 12.7273 REPS1 0 genome.wustl.edu 37 6 139234053 139234053 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 139234053 139234053 G A SNP REPS1 ENST00000450536 human ensembl 74_37 -1 known missense c.1820 p.A607V 0.988 NULL smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors REPS1 HGNC ENSG00000135597 52 0 0 35 8 18.6047 HECA 0 genome.wustl.edu 37 6 139495646 139495646 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 139495646 139495646 C T SNP HECA ENST00000367658 human ensembl 74_37 +1 known silent c.1437 p.Y479 0.979 NULL superfamily_Glycoside_hydrolase_SF - no_errors HECA HGNC ENSG00000112406 83 0 0 62 14 18.4211 TXLNB 0 genome.wustl.edu 37 6 139563913 139563913 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 139563913 139563913 G A SNP TXLNB ENST00000358430 human ensembl 74_37 -1 known missense c.1805 p.A602V 0.001 NULL pfam_Taxilin_fam - no_errors TXLNB HGNC ENSG00000164440 74 0 0 64 11 14.6667 TXLNB 0 genome.wustl.edu 37 6 139564112 139564112 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 139564112 139564112 C T SNP TXLNB ENST00000358430 human ensembl 74_37 -1 known missense c.1606 p.A536T 0.000 NULL pfam_Taxilin_fam - no_errors TXLNB HGNC ENSG00000164440 119 0 0 96 7 6.79612 VTA1 0 genome.wustl.edu 37 6 142539749 142539749 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 142539749 142539749 C T SNP VTA1 ENST00000367630 human ensembl 74_37 +1 known missense c.893 p.A298V 1.000 NULL NULL - no_errors VTA1 HGNC ENSG00000009844 139 0 0 88 6 6.38298 GPR126 0 genome.wustl.edu 37 6 142758632 142758632 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 142758632 142758632 G A SNP GPR126 ENST00000367609 human ensembl 74_37 +1 known silent c.3381 p.Q1127 0.280 NULL 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 80 0 0 75 5 6.25 HIVEP2 0 genome.wustl.edu 37 6 143092794 143092794 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 143092794 143092794 G A SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known nonsense c.3082 p.R1028* 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 80 0 0 81 9 10 AIG1 0 genome.wustl.edu 37 6 143382137 143382137 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 143382137 143382137 G T SNP AIG1 ENST00000275235 human ensembl 74_37 +1 known missense c.75 p.K25N 1.000 pfam_Far-17a_AIG1 pfam_Far-17a_AIG1 - no_errors AIG1 HGNC ENSG00000146416 77 0 0 65 22 25.2874 UTRN 0 genome.wustl.edu 37 6 144613000 144613000 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 144613000 144613000 C T SNP UTRN ENST00000367545 human ensembl 74_37 +1 known silent c.36 p.D12 0.199 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 78 0 0 79 8 9.1954 EPM2A 0 genome.wustl.edu 37 6 145948764 145948764 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 145948764 145948764 C T SNP EPM2A ENST00000367519 human ensembl 74_37 -1 known missense c.784 p.V262M 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_CBM_fam20,superfamily_Carb-bd-like_fold,smart_Dual-sp_phosphatase_subgr_cat,pfscan_CBM_fam20,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors EPM2A HGNC ENSG00000112425 32 0 0 31 6 16.2162 GRM1 0 genome.wustl.edu 37 6 146350908 146350908 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 146350908 146350908 G A SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known silent c.255 p.T85 0.243 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 34 0 0 27 3 10 GRM1 0 genome.wustl.edu 37 6 146720226 146720226 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 146720226 146720226 G A SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.2051 p.R684H 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,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 198 0 0 144 32 18.1818 GRM1 0 genome.wustl.edu 37 6 146720492 146720492 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 146720492 146720492 A G SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.2317 p.K773E 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,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 112 0 0 92 21 18.5841 SASH1 0 genome.wustl.edu 37 6 148808836 148808836 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 148808836 148808836 C T SNP SASH1 ENST00000367467 human ensembl 74_37 +1 known silent c.714 p.G238 0.992 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 47 0 0 47 15 24.1935 SASH1 0 genome.wustl.edu 37 6 148869651 148869651 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 148869651 148869651 C T SNP SASH1 ENST00000367467 human ensembl 74_37 +1 known missense c.3701 p.A1234V 1.000 pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 68 0 0 63 9 12.5 PCMT1 0 genome.wustl.edu 37 6 150111190 150111190 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 150111190 150111190 G A SNP PCMT1 ENST00000367384 human ensembl 74_37 +1 known missense c.467 p.R156H 1.000 pfam_PCMT,tigrfam_PCMT pfam_PCMT,tigrfam_PCMT - no_errors PCMT1 HGNC ENSG00000120265 81 0 0 90 9 9.09091 LRP11 0 genome.wustl.edu 37 6 150174287 150174287 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 150174287 150174287 G A SNP LRP11 ENST00000239367 human ensembl 74_37 -1 known missense c.623 p.A208V 1.000 superfamily_PKD_dom pfam_MANSC_N,pfam_LDrepeatLR_classA_rpt,superfamily_PKD_dom,superfamily_LDrepeatLR_classA_rpt,smart_MANSC_N,smart_PKD/Chitinase_dom,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_MANSC,pfscan_PKD_dom - no_errors LRP11 HGNC ENSG00000120256 58 0 0 46 8 14.8148 RAET1E 0 genome.wustl.edu 37 6 150212003 150212003 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 150212003 150212003 C T SNP RAET1E ENST00000357183 human ensembl 74_37 -1 known missense c.35 p.R12H 0.000 NULL pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors RAET1E HGNC ENSG00000164520 78 0 0 59 20 25.3165 RAET1L 0 genome.wustl.edu 37 6 150342136 150342136 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 150342136 150342136 G A SNP RAET1L ENST00000286380 human ensembl 74_37 -1 known missense c.536 p.A179V 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors RAET1L HGNC ENSG00000155918 162 0 0 152 30 16.4835 PLEKHG1 0 genome.wustl.edu 37 6 151054969 151054969 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 151054969 151054969 C T SNP PLEKHG1 ENST00000358517 human ensembl 74_37 +1 known missense c.152 p.A51V 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 75 0 0 58 6 9.375 PLEKHG1 0 genome.wustl.edu 37 6 151130348 151130348 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 151130348 151130348 G A SNP PLEKHG1 ENST00000358517 human ensembl 74_37 +1 known silent c.1020 p.T340 0.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 92 0 0 74 21 22.1053 PLEKHG1 0 genome.wustl.edu 37 6 151152440 151152440 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 151152440 151152440 G A SNP PLEKHG1 ENST00000358517 human ensembl 74_37 +1 known silent c.2193 p.T731 0.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 55 0 0 53 5 8.62069 AKAP12 0 genome.wustl.edu 37 6 151671215 151671215 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 151671215 151671215 C T SNP AKAP12 ENST00000253332 human ensembl 74_37 +1 known silent c.1689 p.G563 0.033 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 47 0 0 38 14 26.9231 ZBTB2 0 genome.wustl.edu 37 6 151687601 151687601 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 151687601 151687601 G A SNP ZBTB2 ENST00000325144 human ensembl 74_37 -1 known silent c.600 p.T200 0.999 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 ZBTB2 HGNC ENSG00000181472 67 0 0 53 4 7.01754 ESR1 0 genome.wustl.edu 37 6 152201884 152201884 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 152201884 152201884 C T SNP ESR1 ENST00000206249 human ensembl 74_37 +1 known silent c.738 p.Y246 0.664 pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Oestr_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESR1 HGNC ENSG00000091831 58 0 0 46 6 11.5385 SYNE1 0 genome.wustl.edu 37 6 152631593 152631593 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 152631593 152631593 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.16957 p.A5653T 0.996 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 69 0 0 73 6 7.59494 SYNE1 0 genome.wustl.edu 37 6 152631641 152631641 + Missense_Mutation SNP A A T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 152631641 152631641 A T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.16909 p.F5637I 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 67 0 0 50 13 20.6349 SYNE1 0 genome.wustl.edu 37 6 152631934 152631934 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 152631934 152631934 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.16785 p.S5595 0.016 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 41 0 0 31 8 20.5128 SYNE1 0 genome.wustl.edu 37 6 152746516 152746516 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 152746516 152746516 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.5267 p.R1756K 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 107 0 0 108 7 6.08696 SYNE1 0 genome.wustl.edu 37 6 152841620 152841620 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 152841620 152841620 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.283 p.A95T 0.999 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain 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 265 1 0.37594 197 43 17.9167 IPCEF1 0 genome.wustl.edu 37 6 154481030 154481030 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 154481030 154481030 T C SNP IPCEF1 ENST00000367220 human ensembl 74_37 -1 known missense c.1250 p.D417G 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors IPCEF1 HGNC ENSG00000074706 31 0 0 22 10 31.25 IPCEF1 0 genome.wustl.edu 37 6 154481146 154481146 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 154481146 154481146 G A SNP IPCEF1 ENST00000367220 human ensembl 74_37 -1 known silent c.1134 p.N378 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors IPCEF1 HGNC ENSG00000074706 58 0 0 36 12 25 TIAM2 0 genome.wustl.edu 37 6 155469392 155469392 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 155469392 155469392 G A SNP TIAM2 ENST00000456144 human ensembl 74_37 +1 known missense c.1952 p.S651N 1.000 superfamily_HR1_rho-bd pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC ENSG00000146426 61 0 0 68 17 20 TIAM2 0 genome.wustl.edu 37 6 155532392 155532392 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 155532392 155532392 G T SNP TIAM2 ENST00000456144 human ensembl 74_37 +1 known missense c.3119 p.G1040V 0.999 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC ENSG00000146426 57 0 0 55 7 11.2903 TIAM2 0 genome.wustl.edu 37 6 155561791 155561791 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 155561791 155561791 G A SNP TIAM2 ENST00000456144 human ensembl 74_37 +1 known missense c.3296 p.R1099H 1.000 superfamily_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC ENSG00000146426 62 0 0 51 10 16.3934 TIAM2 0 genome.wustl.edu 37 6 155577914 155577914 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 155577914 155577914 G A SNP TIAM2 ENST00000456144 human ensembl 74_37 +1 known missense c.4852 p.E1618K 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC ENSG00000146426 70 0 0 61 6 8.95522 CLDN20 0 genome.wustl.edu 37 6 155596935 155596935 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 155596935 155596935 C T SNP CLDN20 ENST00000367165 human ensembl 74_37 +1 known missense c.82 p.P28S 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN20 HGNC ENSG00000171217 109 0 0 94 27 22.314 NOX3 0 genome.wustl.edu 37 6 155743924 155743924 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 155743924 155743924 G A SNP NOX3 ENST00000159060 human ensembl 74_37 -1 known silent c.1212 p.C404 0.999 pfam_Fe_red_NAD-bd_6,prints_Cyt_b245_heavy_chain pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX3 HGNC ENSG00000074771 120 0 0 138 26 15.8537 NOX3 0 genome.wustl.edu 37 6 155761236 155761236 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 155761236 155761236 G A SNP NOX3 ENST00000159060 human ensembl 74_37 -1 known silent c.522 p.G174 0.002 pfam_Fe3_Rdtase_TM_dom pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX3 HGNC ENSG00000074771 82 0 0 69 16 18.8235 DTNBP1 0 genome.wustl.edu 37 6 15627674 15627674 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 15627674 15627674 C T SNP DTNBP1 ENST00000355917 human ensembl 74_37 -1 known silent c.255 p.A85 0.199 superfamily_Trp_syn_b_sub_like_PLP_eny_SF pfam_Dysbindin,superfamily_Trp_syn_b_sub_like_PLP_eny_SF - no_errors DTNBP1 HGNC ENSG00000047579 52 0 0 47 8 14.5455 ARID1B 0 genome.wustl.edu 37 6 157488293 157488293 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 157488293 157488293 C T SNP ARID1B ENST00000367148 human ensembl 74_37 +1 known missense c.2960 p.A987V 0.088 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 72 0 0 60 18 23.0769 SYNJ2 0 genome.wustl.edu 37 6 158517270 158517270 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 158517270 158517270 C T SNP SYNJ2 ENST00000355585 human ensembl 74_37 +1 known silent c.4365 p.G1455 0.000 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 53 0 0 48 10 17.2414 TULP4 0 genome.wustl.edu 37 6 158923299 158923299 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 158923299 158923299 C T SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known silent c.2604 p.G868 1.000 NULL pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 56 0 0 35 14 28.5714 IGF2R 0 genome.wustl.edu 37 6 160468277 160468277 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 160468277 160468277 C T SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known missense c.2138 p.T713I 0.001 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 122 0 0 94 10 9.61538 IGF2R 0 genome.wustl.edu 37 6 160497000 160497000 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 160497000 160497000 C T SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known missense c.5288 p.A1763V 0.000 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 119 0 0 132 18 12 IGF2R 0 genome.wustl.edu 37 6 160523629 160523629 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 160523629 160523629 C T SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known silent c.6921 p.G2307 0.696 NULL pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 22 0 0 19 4 17.3913 LPA 0 genome.wustl.edu 37 6 160977182 160977182 + Nonsense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 160977182 160977182 G T SNP LPA ENST00000316300 human ensembl 74_37 -1 known nonsense c.4848 p.C1616* 1.000 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 177 0 0 109 17 13.4921 LPA 0 genome.wustl.edu 37 6 161006078 161006078 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 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 191 1 0.520833 178 25 12.3153 LPA 0 genome.wustl.edu 37 6 161020532 161020532 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 161020532 161020532 G A SNP LPA ENST00000316300 human ensembl 74_37 -1 known missense c.3287 p.A1096V 0.421 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 363 0 0 409 30 6.83371 LPA 0 genome.wustl.edu 37 6 161026078 161026078 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 161026078 161026078 G A SNP LPA ENST00000316300 human ensembl 74_37 -1 known missense c.2945 p.A982V 0.930 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 374 1 0.266667 329 107 24.5413 PLG 0 genome.wustl.edu 37 6 161152221 161152221 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 161152221 161152221 G A SNP PLG ENST00000308192 human ensembl 74_37 +1 known silent c.1395 p.P465 0.000 pirsf_Pept_S1A_plasmin,superfamily_Kringle-like pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors PLG HGNC ENSG00000122194 104 0 0 85 28 24.7788 MYLIP 0 genome.wustl.edu 37 6 16143955 16143955 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 16143955 16143955 G A SNP MYLIP ENST00000356840 human ensembl 74_37 +1 known missense c.688 p.A230T 1.000 pfscan_FERM_domain pfam_FERM_N,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,pfscan_Znf_RING,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors MYLIP HGNC ENSG00000007944 96 0 0 98 6 5.76923 MAP3K4 0 genome.wustl.edu 37 6 161508846 161508846 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 161508846 161508846 G A SNP MAP3K4 ENST00000392142 human ensembl 74_37 +1 known missense c.2683 p.V895I 0.012 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 MAP3K4 HGNC ENSG00000085511 122 0 0 73 22 23.1579 MAP3K4 0 genome.wustl.edu 37 6 161523018 161523018 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 161523018 161523018 C T SNP MAP3K4 ENST00000392142 human ensembl 74_37 +1 known nonsense c.3769 p.R1257* 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 MAP3K4 HGNC ENSG00000085511 52 0 0 54 11 16.9231 MAP3K4 0 genome.wustl.edu 37 6 161533750 161533750 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 161533750 161533750 C T SNP MAP3K4 ENST00000392142 human ensembl 74_37 +1 known missense c.4570 p.R1524C 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 MAP3K4 HGNC ENSG00000085511 76 0 0 68 13 16.0494 AGPAT4 0 genome.wustl.edu 37 6 161574408 161574408 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 161574408 161574408 C T SNP AGPAT4 ENST00000320285 human ensembl 74_37 -1 known missense c.634 p.A212T 0.951 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT4 HGNC ENSG00000026652 11 0 0 12 5 29.4118 QKI 0 genome.wustl.edu 37 6 163984542 163984542 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 163984542 163984542 G A SNP QKI ENST00000361752 human ensembl 74_37 +1 known missense c.725 p.R242H 0.996 NULL pfam_KH_dom_type_1,smart_KH_dom - no_errors QKI HGNC ENSG00000112531 63 0 0 56 12 17.6471 C6orf118 0 genome.wustl.edu 37 6 165715311 165715311 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 165715311 165715311 C T SNP C6orf118 ENST00000230301 human ensembl 74_37 -1 known missense c.500 p.G167D 0.000 superfamily_Ribonuclease/ribotoxin superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC ENSG00000112539 48 0 0 40 5 11.1111 FGFR1OP 0 genome.wustl.edu 37 6 167436102 167436102 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 167436102 167436102 A G SNP FGFR1OP ENST00000366847 human ensembl 74_37 +1 known missense c.785 p.K262R 0.964 NULL pfam_FOP_dimerisation-dom_N,pfscan_LisH_dimerisation - no_errors FGFR1OP HGNC ENSG00000213066 78 0 0 66 19 22.3529 UNC93A 0 genome.wustl.edu 37 6 167728837 167728837 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 167728837 167728837 C T SNP UNC93A ENST00000230256 human ensembl 74_37 +1 known missense c.1271 p.A424V 0.006 superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93A HGNC ENSG00000112494 312 0 0 271 44 13.9683 MLLT4 0 genome.wustl.edu 37 6 168281118 168281118 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 168281118 168281118 C A SNP MLLT4 ENST00000366806 human ensembl 74_37 +1 known missense c.818 p.P273H 0.994 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 233 0 0 188 59 23.8866 MLLT4 0 genome.wustl.edu 37 6 168312071 168312071 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 168312071 168312071 T C SNP MLLT4 ENST00000366806 human ensembl 74_37 +1 known missense c.1939 p.S647P 1.000 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 121 0 0 97 25 20.4918 MLLT4 0 genome.wustl.edu 37 6 168344088 168344088 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 168344088 168344088 C T SNP MLLT4 ENST00000366806 human ensembl 74_37 +1 known missense c.3151 p.R1051C 0.998 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 137 0 0 162 9 5.26316 MLLT4 0 genome.wustl.edu 37 6 168352728 168352728 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 168352728 168352728 G A SNP MLLT4 ENST00000366806 human ensembl 74_37 +1 known missense c.4673 p.R1558H 1.000 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 40 0 0 21 10 32.2581 DLL1 0 genome.wustl.edu 37 6 170592454 170592454 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 170592454 170592454 G A SNP DLL1 ENST00000366756 human ensembl 74_37 -1 known missense c.1913 p.A638V 0.002 NULL 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,pfscan_DSL,pfscan_EG-like_dom - no_errors DLL1 HGNC ENSG00000198719 72 0 0 55 13 19.1176 FAM120B 0 genome.wustl.edu 37 6 170627136 170627136 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 170627136 170627136 G A SNP FAM120B ENST00000537664 human ensembl 74_37 +1 known missense c.727 p.A243T 0.000 NULL NULL - no_errors FAM120B HGNC ENSG00000112584 64 0 0 61 25 29.0698 CAP2 0 genome.wustl.edu 37 6 17421836 17421836 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 17421836 17421836 G A SNP CAP2 ENST00000229922 human ensembl 74_37 +1 known missense c.50 p.R17H 0.993 pfam_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 CAP2 HGNC ENSG00000112186 92 0 0 84 13 13.4021 CAP2 0 genome.wustl.edu 37 6 17543142 17543142 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 17543142 17543142 C T SNP CAP2 ENST00000229922 human ensembl 74_37 +1 known silent c.1077 p.C359 0.987 pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif 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 132 0 0 137 9 6.16438 NUP153 0 genome.wustl.edu 37 6 17637996 17637996 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 17637996 17637996 C T SNP NUP153 ENST00000537253 human ensembl 74_37 -1 known missense c.1945 p.A649T 0.001 pfam_Nucleoporin_Nup153 pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 75 0 0 62 24 27.907 KDM1B 0 genome.wustl.edu 37 6 18200736 18200736 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 18200736 18200736 G A SNP KDM1B ENST00000388870 human ensembl 74_37 +1 known missense c.1288 p.V430I 0.959 pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Amino_oxidase,pfam_Znf_CW,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_SWIRM,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pfscan_SWIRM,pfscan_Znf_CW - no_errors KDM1B HGNC ENSG00000165097 115 0 0 87 13 13 MBOAT1 0 genome.wustl.edu 37 6 20118754 20118754 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 20118754 20118754 C T SNP MBOAT1 ENST00000324607 human ensembl 74_37 -1 known missense c.925 p.A309T 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors MBOAT1 HGNC ENSG00000172197 61 0 0 55 18 24.6575 E2F3 0 genome.wustl.edu 37 6 20481611 20481611 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 20481611 20481611 G T SNP E2F3 ENST00000346618 human ensembl 74_37 +1 known missense c.680 p.G227V 1.000 pfam_E2F_TDP pfam_E2F_TDP - no_errors E2F3 HGNC ENSG00000112242 303 0 0 242 67 21.6828 CDKAL1 0 genome.wustl.edu 37 6 20546663 20546663 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 20546663 20546663 C T SNP CDKAL1 ENST00000274695 human ensembl 74_37 +1 known missense c.82 p.H28Y 0.987 NULL pfam_Methylthiotransferase_N,pfam_rSAM,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase - no_errors CDKAL1 HGNC ENSG00000145996 103 0 0 105 13 11.0169 PRL 0 genome.wustl.edu 37 6 22294697 22294697 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 22294697 22294697 G A SNP PRL ENST00000306482 human ensembl 74_37 -1 known missense c.145 p.R49C 0.961 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors PRL HGNC ENSG00000172179 46 0 0 47 4 7.84314 DCDC2 0 genome.wustl.edu 37 6 24205404 24205404 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 24205404 24205404 C T SNP DCDC2 ENST00000378450 human ensembl 74_37 -1 known silent c.108 p.L36 0.000 NULL NULL - no_errors DCDC2 HGNC ENSG00000146038 55 0 0 51 4 7.27273 KIAA0319 0 genome.wustl.edu 37 6 24588855 24588855 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 24588855 24588855 C T SNP KIAA0319 ENST00000378214 human ensembl 74_37 -1 known silent c.960 p.E320 0.003 smart_Fibronectin_type3 pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC ENSG00000137261 100 0 0 93 6 6.06061 C6orf62 0 genome.wustl.edu 37 6 24714622 24714622 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 24714622 24714622 C T SNP C6orf62 ENST00000378119 human ensembl 74_37 -1 known missense c.353 p.R118Q 1.000 NULL NULL - no_errors C6orf62 HGNC ENSG00000112308 103 0 0 83 26 23.8532 LRRC16A 0 genome.wustl.edu 37 6 25594745 25594745 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 25594745 25594745 A G SNP LRRC16A ENST00000329474 human ensembl 74_37 +1 novel missense c.3109 p.M1037V 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16A HGNC ENSG00000079691 93 0 0 62 5 7.46269 HIST1H1A 0 genome.wustl.edu 37 6 26017792 26017792 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 26017792 26017792 G A SNP HIST1H1A ENST00000244573 human ensembl 74_37 -1 known missense c.169 p.R57C 1.000 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1A HGNC ENSG00000124610 57 0 0 36 4 10 HFE 0 genome.wustl.edu 37 6 26093362 26093362 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 26093362 26093362 G A SNP HFE ENST00000357618 human ensembl 74_37 +1 known missense c.908 p.G303D 0.000 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HFE HGNC ENSG00000010704 110 0 0 79 11 12.2222 HIST1H1T 0 genome.wustl.edu 37 6 26107824 26107824 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 26107824 26107824 G A SNP HIST1H1T ENST00000338379 human ensembl 74_37 -1 known silent c.498 p.S166 0.000 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1T HGNC ENSG00000187475 131 0 0 85 29 25.4386 HIST1H1T 0 genome.wustl.edu 37 6 26108074 26108074 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 26108074 26108074 C T SNP HIST1H1T ENST00000338379 human ensembl 74_37 -1 known missense c.248 p.R83H 1.000 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1T HGNC ENSG00000187475 120 0 0 77 23 23 HIST1H2AC 0 genome.wustl.edu 37 6 26124765 26124765 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 26124765 26124765 C T SNP HIST1H2AC ENST00000314088 human ensembl 74_37 +1 known missense c.305 p.T102I 1.000 superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AC HGNC ENSG00000180573 129 0 0 104 24 18.75 HIST1H3E 0 genome.wustl.edu 37 6 26225715 26225715 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 26225715 26225715 C T SNP HIST1H3E ENST00000360408 human ensembl 74_37 +1 known silent c.333 p.C111 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3E HGNC ENSG00000196966 92 0 0 88 11 11.1111 HIST1H2BH 0 genome.wustl.edu 37 6 26252014 26252014 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 26252014 26252014 C T SNP HIST1H2BH ENST00000356350 human ensembl 74_37 +1 known silent c.136 p.L46 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BH HGNC ENSG00000197459 203 0 0 168 50 22.9358 BTN2A2 0 genome.wustl.edu 37 6 26390250 26390250 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 26390250 26390250 G A SNP BTN2A2 ENST00000356709 human ensembl 74_37 +1 known missense c.742 p.A248T 0.018 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN2A2 HGNC ENSG00000124508 108 0 0 100 23 18.6992 BTN2A2 0 genome.wustl.edu 37 6 26392964 26392964 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 26392964 26392964 C T SNP BTN2A2 ENST00000356709 human ensembl 74_37 +1 known silent c.1341 p.G447 0.004 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN2A2 HGNC ENSG00000124508 85 0 0 50 17 25.3731 BTN3A3 0 genome.wustl.edu 37 6 26452025 26452025 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 26452025 26452025 C T SNP BTN3A3 ENST00000244519 human ensembl 74_37 +1 known missense c.1141 p.R381C 0.000 superfamily_ConA-like_lec_gl_sf,smart_PRY,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 BTN3A3 HGNC ENSG00000111801 86 0 0 80 21 20.7921 ABT1 0 genome.wustl.edu 37 6 26597319 26597319 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 26597319 26597319 T C SNP ABT1 ENST00000274849 human ensembl 74_37 +1 known missense c.109 p.C37R 0.000 NULL NULL - no_errors ABT1 HGNC ENSG00000146109 24 0 0 25 7 21.875 HIST1H2BN 0 genome.wustl.edu 37 6 27806762 27806762 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 27806762 27806762 C T SNP HIST1H2BN ENST00000396980 human ensembl 74_37 +1 known missense c.323 p.A108V 1.000 superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BN HGNC ENSG00000233822 99 0 0 83 5 5.68182 ZSCAN9 0 genome.wustl.edu 37 6 28200861 28200861 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 28200861 28200861 C T SNP ZSCAN9 ENST00000252207 human ensembl 74_37 +1 known nonsense c.1090 p.R364* 0.752 pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN9 HGNC ENSG00000137185 60 0 0 53 8 13.1148 PGBD1 0 genome.wustl.edu 37 6 28251950 28251950 + Missense_Mutation SNP G G C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 28251950 28251950 G C SNP PGBD1 ENST00000259883 human ensembl 74_37 +1 known missense c.360 p.E120D 0.893 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_SRCR,pfscan_Tscrpt_reg_SCAN - no_errors PGBD1 HGNC ENSG00000137338 126 0 0 93 18 16.2162 LOC101929006 0 genome.wustl.edu 37 6 29231718 29231718 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 29231718 29231718 G A SNP LOC101929006 ENST00000441381 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors XXbac-BPG308J9.3 Clone_based_vega_gene ENSG00000232505 165 0 0 156 27 14.7541 OR14J1 0 genome.wustl.edu 37 6 29274617 29274617 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 29274617 29274617 C T SNP OR14J1 ENST00000377160 human ensembl 74_37 +1 known missense c.151 p.R51C 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14J1 HGNC ENSG00000204695 134 0 0 131 37 22.0238 OR5V1 0 genome.wustl.edu 37 6 29323210 29323210 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 29323210 29323210 C T SNP OR5V1 ENST00000377154 human ensembl 74_37 -1 known missense c.763 p.A255T 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5V1 HGNC ENSG00000243729 76 0 0 92 7 7.07071 OR10C1 0 genome.wustl.edu 37 6 29408113 29408113 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 29408113 29408113 C T SNP OR10C1 ENST00000444197 human ensembl 74_37 +1 known silent c.321 p.G107 0.002 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR10C1 HGNC ENSG00000206474 63 0 0 45 12 21.0526 OR2H1 0 genome.wustl.edu 37 6 29430238 29430238 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 29430238 29430238 C A SNP OR2H1 ENST00000377132 human ensembl 74_37 +1 known missense c.692 p.A231E 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2H1 HGNC ENSG00000204688 130 0 0 149 18 10.7784 MAS1L 0 genome.wustl.edu 37 6 29455184 29455184 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 29455184 29455184 C T SNP MAS1L ENST00000377127 human ensembl 74_37 -1 known missense c.496 p.A166T 0.791 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors MAS1L HGNC ENSG00000204687 69 0 0 53 22 29.3333 MOG 0 genome.wustl.edu 37 6 29638111 29638111 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 29638111 29638111 C T SNP MOG ENST00000376898 human ensembl 74_37 +1 known missense c.646 p.P216S 0.986 pirsf_Myelin-oligodendrocyte_glycop pirsf_Myelin-oligodendrocyte_glycop,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors MOG HGNC ENSG00000204655 134 1 0.740741 119 7 5.55556 PPP1R10 0 genome.wustl.edu 37 6 30569937 30569937 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 30569937 30569937 C T SNP PPP1R10 ENST00000376511 human ensembl 74_37 -1 known missense c.2489 p.R830H 0.977 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 95 0 0 74 15 16.8539 PPP1R10 0 genome.wustl.edu 37 6 30571953 30571953 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 30571953 30571953 G A SNP PPP1R10 ENST00000376511 human ensembl 74_37 -1 known missense c.1340 p.A447V 1.000 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 64 0 0 82 8 8.88889 DHX16 0 genome.wustl.edu 37 6 30624478 30624478 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 30624478 30624478 C T SNP DHX16 ENST00000376442 human ensembl 74_37 -1 known missense c.2207 p.R736H 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX16 HGNC ENSG00000204560 78 0 0 58 9 13.4328 DHX16 0 genome.wustl.edu 37 6 30633376 30633376 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 30633376 30633376 C T SNP DHX16 ENST00000376442 human ensembl 74_37 -1 known silent c.801 p.R267 0.534 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX16 HGNC ENSG00000204560 73 0 0 62 13 17.3333 RIPK1 0 genome.wustl.edu 37 6 3083441 3083441 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 3083441 3083441 G A SNP RIPK1 ENST00000259808 human ensembl 74_37 +1 known silent c.582 p.A194 0.868 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_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Death_domain,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK1 HGNC ENSG00000137275 98 0 0 102 8 7.27273 DPCR1 0 genome.wustl.edu 37 6 30918709 30918709 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 30918709 30918709 C A SNP DPCR1 ENST00000462446 human ensembl 74_37 +1 novel missense c.2468 p.T823K 0.000 NULL NULL - no_errors DPCR1 HGNC ENSG00000168631 15 0 0 1 3 75 PSORS1C1 0 genome.wustl.edu 37 6 31106442 31106442 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 31106442 31106442 C T SNP PSORS1C1 ENST00000259881 human ensembl 74_37 +1 known missense c.53 p.T18I 0.000 NULL NULL - no_errors PSORS1C1 HGNC ENSG00000204540 129 0 0 102 21 17.0732 TUBB2A 0 genome.wustl.edu 37 6 3154871 3154871 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 3154871 3154871 C T SNP TUBB2A ENST00000333628 human ensembl 74_37 -1 known silent c.564 p.S188 0.003 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB2A HGNC ENSG00000137267 93 0 0 79 8 9.1954 PRRC2A 0 genome.wustl.edu 37 6 31595695 31595695 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 31595695 31595695 C T SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.1444 p.R482C 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 61 0 0 66 6 8.33333 PRRC2A 0 genome.wustl.edu 37 6 31597080 31597080 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 31597080 31597080 C T SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.1925 p.S642L 0.997 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 133 0 0 111 38 25.5034 LY6G6F 0 genome.wustl.edu 37 6 31675769 31675769 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 31675769 31675769 C T SNP LY6G6F ENST00000556581 human ensembl 74_37 +1 known silent c.504 p.G168 0.023 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors LY6G6F HGNC ENSG00000204424 95 0 0 63 6 8.69565 DDAH2 0 genome.wustl.edu 37 6 31695064 31695064 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 31695064 31695064 C T SNP DDAH2 ENST00000375787 human ensembl 74_37 -1 known missense c.808 p.A270T 0.992 pfam_Amidino_trans pfam_Amidino_trans - no_errors DDAH2 HGNC ENSG00000213722 84 0 0 60 15 20 DDAH2 0 genome.wustl.edu 37 6 31696672 31696672 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 31696672 31696672 C T SNP DDAH2 ENST00000375787 human ensembl 74_37 -1 known silent c.267 p.T89 0.998 pfam_Amidino_trans pfam_Amidino_trans - no_errors DDAH2 HGNC ENSG00000213722 32 0 0 17 4 19.0476 MSH5 0 genome.wustl.edu 37 6 31713064 31713064 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 31713064 31713064 C T SNP MSH5 ENST00000375742 human ensembl 74_37 +1 known missense c.785 p.A262V 1.000 pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH5 HGNC ENSG00000204410 51 0 0 54 6 10 SLC44A4 0 genome.wustl.edu 37 6 31833122 31833122 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 31833122 31833122 G A SNP SLC44A4 ENST00000229729 human ensembl 74_37 -1 known missense c.1730 p.A577V 1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A4 HGNC ENSG00000204385 171 0 0 124 38 23.4568 ZBTB12 0 genome.wustl.edu 37 6 31868726 31868726 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 31868726 31868726 G A SNP ZBTB12 ENST00000375527 human ensembl 74_37 -1 known silent c.357 p.C119 0.894 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB12 HGNC ENSG00000204366 57 0 0 62 10 13.8889 DXO 0 genome.wustl.edu 37 6 31938887 31938887 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 31938887 31938887 G A SNP DXO ENST00000337523 human ensembl 74_37 -1 known missense c.394 p.R132W 1.000 NULL pfam_RAI1 - no_errors DXO HGNC ENSG00000204348 41 0 0 25 11 30.5556 TNXB 0 genome.wustl.edu 37 6 32017064 32017064 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 32017064 32017064 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.9734 p.S3245F 0.989 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 18 0 0 17 4 19.0476 TNXB 0 genome.wustl.edu 37 6 32020573 32020573 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 32020573 32020573 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.8983 p.R2995C 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 35 0 0 17 8 32 TNXB 0 genome.wustl.edu 37 6 32041456 32041456 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 32041456 32041456 C T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.4649 p.R1550H 0.004 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 31 0 0 22 5 18.5185 TNXB 0 genome.wustl.edu 37 6 32052264 32052264 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 32052264 32052264 C T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.3371 p.R1124H 0.335 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 47 0 0 44 5 10.2041 TNXB 0 genome.wustl.edu 37 6 32063527 32063527 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 32063527 32063527 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known silent c.2103 p.G701 0.965 smart_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 23 0 0 20 7 25.9259 NOTCH4 0 genome.wustl.edu 37 6 32165126 32165126 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 32165126 32165126 G A SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known missense c.5002 p.R1668C 0.998 pirsf_Notch,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom 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 45 0 0 44 11 20 NOTCH4 0 genome.wustl.edu 37 6 32166736 32166736 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 32166736 32166736 C T SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known missense c.4502 p.R1501Q 1.000 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 77 0 0 72 27 27.2727 C6orf10 0 genome.wustl.edu 37 6 32261736 32261736 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 32261736 32261736 G A SNP C6orf10 ENST00000447241 human ensembl 74_37 -1 known silent c.714 p.G238 0.000 NULL NULL - no_errors C6orf10 HGNC ENSG00000204296 120 0 0 125 12 8.75912 TAPSAR1 0 genome.wustl.edu 37 6 32813337 32813337 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 32813337 32813337 C T SNP TAPSAR1 ENST00000412095 human ensembl 74_37 +1 known rna NULL NULL 0.036 - - - no_errors TAPSAR1 HGNC ENSG00000204261 30 0 0 37 7 15.9091 BRD2 0 genome.wustl.edu 37 6 32944496 32944496 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 32944496 32944496 G A SNP BRD2 ENST00000395289 human ensembl 74_37 +1 known missense c.983 p.R328H 0.503 superfamily_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD2 HGNC ENSG00000204256 125 0 0 108 16 12.9032 COL11A2 0 genome.wustl.edu 37 6 33138611 33138611 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 33138611 33138611 C T SNP COL11A2 ENST00000341947 human ensembl 74_37 -1 known silent c.3450 p.G1150 0.868 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 93 0 0 73 6 7.59494 VPS52 0 genome.wustl.edu 37 6 33236902 33236902 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 33236902 33236902 G A SNP VPS52 ENST00000445902 human ensembl 74_37 -1 known missense c.437 p.T146I 1.000 pfam_Vps52,pfam_Exocyst_Exoc1/SEC3 pfam_Vps52,pfam_Exocyst_Exoc1/SEC3 - no_errors VPS52 HGNC ENSG00000223501 189 0 0 168 18 9.67742 TAPBP 0 genome.wustl.edu 37 6 33273060 33273060 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 33273060 33273060 C T SNP TAPBP ENST00000426633 human ensembl 74_37 -1 known missense c.574 p.A192T 0.001 NULL pfam_Ig_C1-set,pfscan_Ig-like_dom,prints_Tapasin - no_errors TAPBP HGNC ENSG00000231925 44 0 0 26 7 21.2121 DAXX 0 genome.wustl.edu 37 6 33287520 33287520 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 33287520 33287520 C T SNP DAXX ENST00000266000 human ensembl 74_37 -1 known missense c.1577 p.R526H 0.013 pfam_Daxx pfam_Daxx - no_errors DAXX HGNC ENSG00000204209 95 0 0 53 15 22.0588 KIFC1 0 genome.wustl.edu 37 6 33371778 33371778 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 33371778 33371778 C T SNP KIFC1 ENST00000428849 human ensembl 74_37 +1 known missense c.628 p.R210C 0.041 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC1 HGNC ENSG00000237649 111 0 0 81 18 18.1818 PHF1 0 genome.wustl.edu 37 6 33380151 33380151 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 33380151 33380151 G A SNP PHF1 ENST00000374516 human ensembl 74_37 +1 known silent c.111 p.V37 0.654 smart_Tudor pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF1 HGNC ENSG00000112511 78 0 0 66 16 19.5122 CUTA 0 genome.wustl.edu 37 6 33385291 33385291 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 33385291 33385291 C T SNP CUTA ENST00000374500 human ensembl 74_37 -1 known missense c.281 p.C94Y 1.000 pfam_Ion_tolerance_CutA,superfamily_N-reg_PII-like_a/b pfam_Ion_tolerance_CutA,superfamily_N-reg_PII-like_a/b - no_errors CUTA HGNC ENSG00000112514 146 0 0 110 27 19.708 SYNGAP1 0 genome.wustl.edu 37 6 33403339 33403339 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 33403339 33403339 C T SNP SYNGAP1 ENST00000418600 human ensembl 74_37 +1 known silent c.711 p.A237 0.116 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC ENSG00000197283 239 0 0 235 18 7.11462 ITPR3 0 genome.wustl.edu 37 6 33646527 33646527 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 33646527 33646527 C T SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.3883 p.R1295C 1.000 pfam_Ca-rel_channel 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 28 0 0 27 4 12.9032 ITPR3 0 genome.wustl.edu 37 6 33661334 33661334 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 33661334 33661334 A G SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.7637 p.D2546G 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 40 0 0 50 9 15.2542 NUDT3 0 genome.wustl.edu 37 6 34309727 34309727 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 34309727 34309727 C T SNP NUDT3 ENST00000607016 human ensembl 74_37 -1 known missense c.122 p.R41H 1.000 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT3 HGNC ENSG00000272325 61 0 0 38 14 26.9231 ANKS1A 0 genome.wustl.edu 37 6 34949512 34949512 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 34949512 34949512 C T SNP ANKS1A ENST00000360359 human ensembl 74_37 +1 known missense c.481 p.H161Y 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1A HGNC ENSG00000064999 56 0 0 57 8 12.3077 ANKS1A 0 genome.wustl.edu 37 6 35053698 35053698 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 35053698 35053698 C T SNP ANKS1A ENST00000360359 human ensembl 74_37 +1 known silent c.3288 p.G1096 0.946 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1A HGNC ENSG00000064999 18 0 0 15 8 34.7826 TCP11 0 genome.wustl.edu 37 6 35090014 35090014 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 35090014 35090014 G A SNP TCP11 ENST00000311875 human ensembl 74_37 -1 known missense c.497 p.A166V 0.473 pfam_Tcp11 pfam_Tcp11 - no_errors TCP11 HGNC ENSG00000124678 111 0 0 105 22 17.3228 FANCE 0 genome.wustl.edu 37 6 35423937 35423937 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 35423937 35423937 G A SNP FANCE ENST00000229769 human ensembl 74_37 +1 known missense c.662 p.R221Q 0.116 NULL pfam_Fanconi_anaemia_gr_E_prot_C - no_errors FANCE HGNC ENSG00000112039 98 0 0 103 6 5.50459 ARMC12 0 genome.wustl.edu 37 6 35716414 35716414 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 35716414 35716414 G A SNP ARMC12 ENST00000288065 human ensembl 74_37 +1 known missense c.871 p.A291T 0.000 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors ARMC12 HGNC ENSG00000157343 76 0 0 56 12 17.6471 LHFPL5 0 genome.wustl.edu 37 6 35773525 35773525 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 35773525 35773525 C T SNP LHFPL5 ENST00000360215 human ensembl 74_37 +1 known silent c.78 p.G26 0.321 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL5 HGNC ENSG00000197753 120 0 0 93 23 19.8276 LHFPL5 0 genome.wustl.edu 37 6 35773571 35773571 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 35773571 35773571 G A SNP LHFPL5 ENST00000360215 human ensembl 74_37 +1 known missense c.124 p.A42T 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL5 HGNC ENSG00000197753 155 0 0 135 28 17.1779 MAPK14 0 genome.wustl.edu 37 6 36020576 36020576 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 36020576 36020576 C T SNP MAPK14 ENST00000229794 human ensembl 74_37 +1 known missense c.217 p.R73W 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_p38 - no_errors MAPK14 HGNC ENSG00000112062 94 0 0 74 18 19.5652 CPNE5 0 genome.wustl.edu 37 6 36767799 36767799 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 36767799 36767799 G A SNP CPNE5 ENST00000244751 human ensembl 74_37 -1 known missense c.232 p.R78C 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE5 HGNC ENSG00000124772 37 0 0 44 17 27.8689 MTCH1 0 genome.wustl.edu 37 6 36938207 36938207 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 36938207 36938207 C T SNP MTCH1 ENST00000373627 human ensembl 74_37 -1 known missense c.997 p.D333N 0.999 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors MTCH1 HGNC ENSG00000137409 89 0 0 71 16 18.3908 FGD2 0 genome.wustl.edu 37 6 36993700 36993700 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 36993700 36993700 C T SNP FGD2 ENST00000274963 human ensembl 74_37 +1 known missense c.1591 p.R531W 0.181 NULL pfam_DH-domain,pfam_Znf_FYVE,pfam_Pleckstrin_homology,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 FGD2 HGNC ENSG00000146192 32 0 0 26 6 18.75 CMTR1 0 genome.wustl.edu 37 6 37430612 37430612 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 37430612 37430612 G A SNP CMTR1 ENST00000373451 human ensembl 74_37 +1 known missense c.1333 p.V445M 1.000 pfam_rRNA_MeTrfase_FtsJ_dom pfam_rRNA_MeTrfase_FtsJ_dom,pfam_G_patch_dom,smart_G_patch_dom,smart_WW_dom,pfscan_G_patch_dom - no_errors CMTR1 HGNC ENSG00000137200 72 0 0 70 4 5.40541 MDGA1 0 genome.wustl.edu 37 6 37622633 37622633 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 37622633 37622633 G A SNP MDGA1 ENST00000297153 human ensembl 74_37 -1 known missense c.655 p.R219C 0.995 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA1 HGNC ENSG00000112139 118 0 0 93 26 21.8487 ZFAND3 0 genome.wustl.edu 37 6 38120051 38120051 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 38120051 38120051 C T SNP ZFAND3 ENST00000287218 human ensembl 74_37 +1 known silent c.570 p.H190 0.828 pfam_Znf_AN1,smart_Znf_AN1,pfscan_Znf_AN1 pfam_Znf_AN1,pfam_Znf_A20,smart_Znf_A20,smart_Znf_AN1,pfscan_Znf_A20,pfscan_Znf_AN1 - no_errors ZFAND3 HGNC ENSG00000156639 116 0 0 83 21 20.1923 FAM50B 0 genome.wustl.edu 37 6 3850869 3850869 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 3850869 3850869 G A SNP FAM50B ENST00000380272 human ensembl 74_37 +1 novel missense c.824 p.R275H 1.000 pfam_XAP5 pfam_XAP5 - no_errors FAM50B HGNC ENSG00000145945 53 0 0 39 9 18.75 DNAH8 0 genome.wustl.edu 37 6 38781840 38781840 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 38781840 38781840 C T SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known nonsense c.2617 p.R873* 0.411 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 143 0 0 112 23 17.037 DNAH8 0 genome.wustl.edu 37 6 38840404 38840404 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 38840404 38840404 G A SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known silent c.6432 p.A2144 0.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 112 0 0 107 7 6.14035 DNAH8 0 genome.wustl.edu 37 6 38840416 38840416 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 38840416 38840416 C T SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known silent c.6444 p.C2148 0.024 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 121 0 0 103 14 11.9658 KCNK5 0 genome.wustl.edu 37 6 39158947 39158947 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 39158947 39158947 C T SNP KCNK5 ENST00000359534 human ensembl 74_37 -1 known missense c.1219 p.A407T 0.678 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK5 HGNC ENSG00000164626 61 0 0 42 7 14.2857 DAAM2 0 genome.wustl.edu 37 6 39847178 39847178 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 39847178 39847178 C T SNP DAAM2 ENST00000274867 human ensembl 74_37 +1 known silent c.1770 p.D590 0.000 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DAAM2 HGNC ENSG00000146122 97 0 0 91 7 7.14286 LRFN2 0 genome.wustl.edu 37 6 40400194 40400194 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 40400194 40400194 C T SNP LRFN2 ENST00000338305 human ensembl 74_37 -1 known missense c.659 p.R220H 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN2 HGNC ENSG00000156564 39 0 0 32 8 20 UNC5CL 0 genome.wustl.edu 37 6 41000791 41000791 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 41000791 41000791 A G SNP UNC5CL ENST00000244565 human ensembl 74_37 -1 known missense c.781 p.S261P 0.992 NULL pfam_ZU5,pfam_Death_domain,superfamily_DEATH-like_dom,smart_ZU5,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5 - no_errors UNC5CL HGNC ENSG00000124602 21 0 0 9 4 30.7692 UNC5CL 0 genome.wustl.edu 37 6 41002811 41002811 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 41002811 41002811 C T SNP UNC5CL ENST00000244565 human ensembl 74_37 -1 known missense c.3 p.M1I 0.974 NULL pfam_ZU5,pfam_Death_domain,superfamily_DEATH-like_dom,smart_ZU5,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5 - no_errors UNC5CL HGNC ENSG00000124602 50 0 0 44 4 8.33333 TFEB 0 genome.wustl.edu 37 6 41654874 41654874 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 41654874 41654874 C T SNP TFEB ENST00000230323 human ensembl 74_37 -1 known missense c.761 p.R254H 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_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 TFEB HGNC ENSG00000112561 55 0 0 47 8 14.5455 PGC 0 genome.wustl.edu 37 6 41710065 41710065 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 41710065 41710065 C T SNP PGC ENST00000373025 human ensembl 74_37 -1 known missense c.610 p.A204T 0.000 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors PGC HGNC ENSG00000096088 39 0 0 30 10 25 PGC 0 genome.wustl.edu 37 6 41711128 41711128 + Splice_Site SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 41711128 41711128 C T SNP PGC ENST00000373025 human ensembl 74_37 -1 known splice_site c.329-1 e4-1 0.998 - - - no_errors PGC HGNC ENSG00000096088 63 0 0 54 9 14.2857 USP49 0 genome.wustl.edu 37 6 41773964 41773964 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 41773964 41773964 G A SNP USP49 ENST00000373009 human ensembl 74_37 -1 known missense c.758 p.T253M 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP49 HGNC ENSG00000164663 47 0 0 45 12 21.0526 MED20 0 genome.wustl.edu 37 6 41884626 41884626 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 41884626 41884626 C T SNP MED20 ENST00000265350 human ensembl 74_37 -1 known silent c.66 p.E22 0.998 pfam_Mediator_Med20 pfam_Mediator_Med20 - no_errors MED20 HGNC ENSG00000124641 89 0 0 71 16 18.3908 TRERF1 0 genome.wustl.edu 37 6 42227309 42227309 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 42227309 42227309 G A SNP TRERF1 ENST00000541110 human ensembl 74_37 -1 known silent c.2097 p.G699 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 37 0 0 20 5 20 GLTSCR1L 0 genome.wustl.edu 37 6 42796383 42796383 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 42796383 42796383 C T SNP GLTSCR1L ENST00000314073 human ensembl 74_37 +1 known silent c.312 p.D104 1.000 NULL NULL - no_errors GLTSCR1L HGNC ENSG00000112624 117 0 0 101 27 21.0938 MRPL2 0 genome.wustl.edu 37 6 43024152 43024152 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 43024152 43024152 G A SNP MRPL2 ENST00000388752 human ensembl 74_37 -1 known silent c.297 p.G99 1.000 pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_NA-bd_OB-fold pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold - no_errors MRPL2 HGNC ENSG00000112651 32 0 0 18 6 25 KLC4 0 genome.wustl.edu 37 6 43034106 43034106 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 43034106 43034106 C T SNP KLC4 ENST00000259708 human ensembl 74_37 +1 known missense c.688 p.R230W 1.000 pfam_Rabaptin_Rab5-bd_dom,pfscan_TPR-contain_dom,prints_Kinesin_light pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC4 HGNC ENSG00000137171 81 0 0 102 19 15.7025 TTBK1 0 genome.wustl.edu 37 6 43225666 43225666 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 43225666 43225666 G A SNP TTBK1 ENST00000259750 human ensembl 74_37 +1 known silent c.978 p.P326 0.020 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 54 0 0 31 8 20.5128 ABCC10 0 genome.wustl.edu 37 6 43406513 43406513 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 43406513 43406513 G A SNP ABCC10 ENST00000372530 human ensembl 74_37 +1 known missense c.2107 p.A703T 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC10 HGNC ENSG00000124574 75 0 0 63 18 22.2222 ABCC10 0 genome.wustl.edu 37 6 43414079 43414079 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 43414079 43414079 A G SNP ABCC10 ENST00000372530 human ensembl 74_37 +1 known missense c.3439 p.T1147A 0.002 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 ABCC10 HGNC ENSG00000124574 84 0 0 55 8 12.6984 RSPH9 0 genome.wustl.edu 37 6 43638573 43638573 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 43638573 43638573 C T SNP RSPH9 ENST00000372165 human ensembl 74_37 +1 known missense c.770 p.A257V 1.000 NULL NULL - no_errors RSPH9 HGNC ENSG00000172426 47 0 0 35 5 12.5 TMEM63B 0 genome.wustl.edu 37 6 44115223 44115223 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 44115223 44115223 C T SNP TMEM63B ENST00000259746 human ensembl 74_37 +1 known nonsense c.973 p.R325* 0.039 NULL pfam_DUF221 - no_errors TMEM63B HGNC ENSG00000137216 39 0 0 47 11 18.9655 TCTE1 0 genome.wustl.edu 37 6 44248038 44248038 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 44248038 44248038 G A SNP TCTE1 ENST00000371505 human ensembl 74_37 -1 known silent c.1386 p.S462 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors TCTE1 HGNC ENSG00000146221 61 0 0 54 10 15.625 CDC5L 0 genome.wustl.edu 37 6 44364110 44364110 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 44364110 44364110 C T SNP CDC5L ENST00000371477 human ensembl 74_37 +1 known missense c.472 p.R158C 1.000 NULL pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors CDC5L HGNC ENSG00000096401 208 0 0 177 43 19.5455 CDC5L 0 genome.wustl.edu 37 6 44376319 44376319 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 44376319 44376319 G A SNP CDC5L ENST00000371477 human ensembl 74_37 +1 known missense c.1042 p.V348I 0.170 pfam_DUF3351 pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors CDC5L HGNC ENSG00000096401 131 1 0.757576 103 25 19.5312 SUPT3H 0 genome.wustl.edu 37 6 44922276 44922276 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 44922276 44922276 C T SNP SUPT3H ENST00000371460 human ensembl 74_37 -1 known missense c.682 p.A228T 0.993 NULL pfam_TFIID-18,superfamily_Histone-fold - no_errors SUPT3H HGNC ENSG00000196284 87 0 0 87 7 7.44681 CLIC5 0 genome.wustl.edu 37 6 45922936 45922936 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 45922936 45922936 G A SNP CLIC5 ENST00000185206 human ensembl 74_37 -1 known missense c.586 p.R196C 1.000 superfamily_Thioredoxin-like_fold,tigrfam_Int_Cl_channel superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC5 HGNC ENSG00000112782 49 0 0 47 24 33.8028 ENPP4 0 genome.wustl.edu 37 6 46111218 46111218 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 46111218 46111218 C T SNP ENPP4 ENST00000321037 human ensembl 74_37 +1 known silent c.1203 p.C401 1.000 NULL pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ENPP4 HGNC ENSG00000001561 160 0 0 150 29 16.2011 TDRD6 0 genome.wustl.edu 37 6 46657655 46657655 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 46657655 46657655 C T SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known missense c.1790 p.A597V 1.000 pfam_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 79 0 0 72 15 17.2414 GPR116 0 genome.wustl.edu 37 6 46828556 46828556 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 46828556 46828556 C T SNP GPR116 ENST00000265417 human ensembl 74_37 -1 known missense c.2275 p.A759T 0.000 NULL pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like - no_errors GPR116 HGNC ENSG00000069122 86 0 0 96 7 6.79612 TNFRSF21 0 genome.wustl.edu 37 6 47253980 47253980 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 47253980 47253980 A G SNP TNFRSF21 ENST00000296861 human ensembl 74_37 -1 known missense c.448 p.C150R 1.000 smart_TNFR/NGFR_Cys_rich_reg pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_21 - no_errors TNFRSF21 HGNC ENSG00000146072 173 0 0 184 31 14.4186 PTCHD4 0 genome.wustl.edu 37 6 47847321 47847321 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 47847321 47847321 A G SNP PTCHD4 ENST00000339488 human ensembl 74_37 -1 known missense c.1259 p.V420A 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD4 HGNC ENSG00000244694 73 0 0 58 14 19.4444 TFAP2B 0 genome.wustl.edu 37 6 50796340 50796340 + Missense_Mutation SNP A A C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 50796340 50796340 A C SNP TFAP2B ENST00000263046 human ensembl 74_37 +1 known missense c.576 p.E192D 1.000 NULL pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C - no_errors TFAP2B HGNC ENSG00000008196 98 0 0 79 27 25.4717 PKHD1 0 genome.wustl.edu 37 6 51484273 51484273 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 51484273 51484273 T C SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.11831 p.H3944R 0.758 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 101 0 0 69 18 20.6897 PKHD1 0 genome.wustl.edu 37 6 51771122 51771122 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 51771122 51771122 G A SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known silent c.6699 p.G2233 0.828 superfamily_Pectin_lyase_fold/virulence,smart_PbH1 pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 66 0 0 81 8 8.98876 PKHD1 0 genome.wustl.edu 37 6 51900433 51900433 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 51900433 51900433 C T SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.3184 p.A1062T 0.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 164 0 0 130 25 16.129 ICK 0 genome.wustl.edu 37 6 52883237 52883237 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 52883237 52883237 G A SNP ICK ENST00000350082 human ensembl 74_37 -1 known missense c.554 p.A185V 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 ICK HGNC ENSG00000112144 121 0 0 98 17 14.7826 GCM1 0 genome.wustl.edu 37 6 52996822 52996822 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 52996822 52996822 G A SNP GCM1 ENST00000259803 human ensembl 74_37 -1 known missense c.424 p.R142C 1.000 pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM1 HGNC ENSG00000137270 46 0 0 49 5 9.25926 KLHL31 0 genome.wustl.edu 37 6 53516493 53516493 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 53516493 53516493 G A SNP KLHL31 ENST00000370905 human ensembl 74_37 -1 known missense c.1808 p.A603V 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_DUF1668_ORYSA,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL31 HGNC ENSG00000124743 79 0 0 50 7 12.2807 FARS2 0 genome.wustl.edu 37 6 5368994 5368994 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 5368994 5368994 G A SNP FARS2 ENST00000274680 human ensembl 74_37 +1 known missense c.191 p.S64N 0.997 NULL pfam_Phenylalanyl-tRNA_Synthase,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_mito - no_errors FARS2 HGNC ENSG00000145982 39 0 0 52 5 8.77193 EXOC2 0 genome.wustl.edu 37 6 549284 549284 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 549284 549284 C T SNP EXOC2 ENST00000230449 human ensembl 74_37 -1 known missense c.2129 p.R710H 0.948 NULL pfam_IPT,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom - no_errors EXOC2 HGNC ENSG00000112685 124 0 0 102 16 13.5593 GFRAL 0 genome.wustl.edu 37 6 55216125 55216125 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 55216125 55216125 G A SNP GFRAL ENST00000340465 human ensembl 74_37 +1 known missense c.445 p.A149T 1.000 pfam_GDNF/GAS1,smart_GDNF/GAS1 pfam_GDNF/GAS1,smart_GDNF/GAS1 - no_errors GFRAL HGNC ENSG00000187871 209 0 0 178 43 19.457 BMP5 0 genome.wustl.edu 37 6 55623844 55623844 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 55623844 55623844 C T SNP BMP5 ENST00000370830 human ensembl 74_37 -1 known missense c.1174 p.A392T 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP5 HGNC ENSG00000112175 115 0 0 128 19 12.9252 DST 0 genome.wustl.edu 37 6 56392496 56392496 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 56392496 56392496 G A SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.17624 p.A5875V 1.000 superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 33 0 0 45 4 8.16327 DST 0 genome.wustl.edu 37 6 56464943 56464943 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 56464943 56464943 C T SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.11525 p.R3842H 0.997 superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 126 0 0 85 20 19.0476 DST 0 genome.wustl.edu 37 6 56489313 56489313 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 56489313 56489313 A G SNP DST ENST00000518935 human ensembl 74_37 -1 putative silent c.3333 p.S1111 0.000 NULL pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin - no_errors DST HGNC ENSG00000151914 56 0 0 56 9 13.8462 DST 0 genome.wustl.edu 37 6 56499320 56499320 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 56499320 56499320 A G SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.3335 p.V1112A 1.000 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 67 0 0 61 22 26.506 BEND6 0 genome.wustl.edu 37 6 56880071 56880071 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 56880071 56880071 A G SNP BEND6 ENST00000370746 human ensembl 74_37 +1 known missense c.439 p.T147A 0.000 NULL pfam_BEN_domain - no_errors BEND6 HGNC ENSG00000151917 158 0 0 143 21 12.8049 KIAA1586 0 genome.wustl.edu 37 6 56917800 56917800 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 56917800 56917800 G A SNP KIAA1586 ENST00000370733 human ensembl 74_37 +1 known missense c.503 p.R168Q 0.637 NULL superfamily_RNaseH-like_dom - no_errors KIAA1586 HGNC ENSG00000168116 93 0 0 109 17 13.4921 KIAA1586 0 genome.wustl.edu 37 6 56918150 56918150 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 56918150 56918150 C T SNP KIAA1586 ENST00000370733 human ensembl 74_37 +1 known missense c.853 p.R285C 0.010 NULL superfamily_RNaseH-like_dom - no_errors KIAA1586 HGNC ENSG00000168116 57 0 0 39 8 17.0213 EXOC2 0 genome.wustl.edu 37 6 576783 576783 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 576783 576783 C A SNP EXOC2 ENST00000230449 human ensembl 74_37 -1 known missense c.1292 p.S431I 1.000 NULL pfam_IPT,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom - no_errors EXOC2 HGNC ENSG00000112685 54 0 0 43 14 24.5614 PTP4A1 0 genome.wustl.edu 37 6 64286802 64286802 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 64286802 64286802 G A SNP PTP4A1 ENST00000370651 human ensembl 74_37 +1 known missense c.17 p.R6H 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors PTP4A1 HGNC ENSG00000112245 56 0 0 59 16 21.3333 EYS 0 genome.wustl.edu 37 6 66200576 66200576 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 66200576 66200576 C A SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.773 p.G258V 0.958 pfscan_EG-like_dom pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 50 0 0 34 12 26.087 BAI3 0 genome.wustl.edu 37 6 69665995 69665995 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 69665995 69665995 G A SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known silent c.1275 p.R425 0.999 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 33 0 0 42 8 16 BAI3 0 genome.wustl.edu 37 6 69666038 69666038 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 69666038 69666038 C T SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.1318 p.P440S 0.999 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 37 0 0 38 11 22.449 BAI3 0 genome.wustl.edu 37 6 69703826 69703826 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 69703826 69703826 G T SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.1901 p.S634I 1.000 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_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 92 0 0 107 12 10.084 BAI3 0 genome.wustl.edu 37 6 70098714 70098714 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 70098714 70098714 A G SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known silent c.4500 p.P1500 0.869 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_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 70 0 0 72 10 12.1951 COL19A1 0 genome.wustl.edu 37 6 70639416 70639416 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 70639416 70639416 C T SNP COL19A1 ENST00000322773 human ensembl 74_37 +1 known missense c.490 p.R164C 0.707 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 78 0 0 64 9 12.3288 COL19A1 0 genome.wustl.edu 37 6 70639518 70639518 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 70639518 70639518 G A SNP COL19A1 ENST00000322773 human ensembl 74_37 +1 known missense c.592 p.D198N 0.058 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 122 0 0 118 9 7.08661 COL9A1 0 genome.wustl.edu 37 6 71003937 71003937 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 71003937 71003937 C T SNP COL9A1 ENST00000357250 human ensembl 74_37 -1 known missense c.629 p.G210D 0.992 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 147 0 0 132 44 25 SMAP1 0 genome.wustl.edu 37 6 71442157 71442157 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 71442157 71442157 T C SNP SMAP1 ENST00000370455 human ensembl 74_37 +1 known silent c.195 p.V65 0.999 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP1 HGNC ENSG00000112305 88 0 0 54 14 20.5882 RREB1 0 genome.wustl.edu 37 6 7229286 7229286 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 7229286 7229286 C T SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known silent c.954 p.C318 0.950 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 34 0 0 32 5 13.5135 RREB1 0 genome.wustl.edu 37 6 7229303 7229303 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 7229303 7229303 C T SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known missense c.971 p.A324V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 33 0 0 28 4 12.5 RREB1 0 genome.wustl.edu 37 6 7247285 7247285 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 7247285 7247285 C T SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known silent c.4602 p.S1534 0.017 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 36 0 0 26 6 18.75 RIMS1 0 genome.wustl.edu 37 6 73016981 73016981 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 73016981 73016981 C T SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known nonsense c.3871 p.R1291* 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 34 0 0 42 7 14.2857 KCNQ5 0 genome.wustl.edu 37 6 73787158 73787158 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 73787158 73787158 C T SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known missense c.730 p.R244C 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 57 0 0 31 15 32.6087 KCNQ5 0 genome.wustl.edu 37 6 73879485 73879485 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 73879485 73879485 C T SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known silent c.1515 p.G505 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 84 0 0 89 23 20.5357 DDX43 0 genome.wustl.edu 37 6 74123695 74123695 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 74123695 74123695 C T SNP DDX43 ENST00000370336 human ensembl 74_37 +1 known missense c.1499 p.A500V 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,superfamily_P-loop_NTPase,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX43 HGNC ENSG00000080007 41 0 0 26 25 49.0196 DSP 0 genome.wustl.edu 37 6 7583315 7583315 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 7583315 7583315 T C SNP DSP ENST00000379802 human ensembl 74_37 +1 known silent c.5820 p.D1940 0.474 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 87 0 0 84 22 20.7547 COL12A1 0 genome.wustl.edu 37 6 75839850 75839850 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 75839850 75839850 C A SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.6167 p.R2056M 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 98 0 0 94 14 12.963 DSP 0 genome.wustl.edu 37 6 7584793 7584793 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 7584793 7584793 G A SNP DSP ENST00000379802 human ensembl 74_37 +1 known missense c.7298 p.C2433Y 1.000 smart_Plectin_repeat pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 164 0 0 145 19 11.5854 FILIP1 0 genome.wustl.edu 37 6 76023157 76023157 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 76023157 76023157 A G SNP FILIP1 ENST00000237172 human ensembl 74_37 -1 known silent c.2391 p.D797 0.934 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 130 0 0 131 37 22.0238 SNRNP48 0 genome.wustl.edu 37 6 7606353 7606353 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 7606353 7606353 G T SNP SNRNP48 ENST00000342415 human ensembl 74_37 +1 known missense c.896 p.R299M 0.466 NULL pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors SNRNP48 HGNC ENSG00000168566 108 0 0 84 16 16 PHIP 0 genome.wustl.edu 37 6 79695140 79695140 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 79695140 79695140 G A SNP PHIP ENST00000275034 human ensembl 74_37 -1 known silent c.2466 p.G822 0.972 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC ENSG00000146247 133 0 0 128 28 17.9487 PHIP 0 genome.wustl.edu 37 6 79708078 79708078 + Missense_Mutation SNP T T G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 79708078 79708078 T G SNP PHIP ENST00000275034 human ensembl 74_37 -1 known missense c.1910 p.N637T 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC ENSG00000146247 63 0 0 60 15 20 ELOVL4 0 genome.wustl.edu 37 6 80635973 80635973 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 80635973 80635973 G A SNP ELOVL4 ENST00000369816 human ensembl 74_37 -1 known missense c.226 p.R76C 1.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL4 HGNC ENSG00000118402 72 0 0 62 13 17.3333 TTK 0 genome.wustl.edu 37 6 80751905 80751905 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 80751905 80751905 A G SNP TTK ENST00000369798 human ensembl 74_37 +1 known missense c.2560 p.R854G 0.014 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTK HGNC ENSG00000112742 56 0 0 52 4 7.14286 IBTK 0 genome.wustl.edu 37 6 82933304 82933304 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 82933304 82933304 A G SNP IBTK ENST00000306270 human ensembl 74_37 -1 known missense c.977 p.V326A 1.000 superfamily_RCC1/BLIP-II pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors IBTK HGNC ENSG00000005700 82 0 0 62 8 11.4286 DOPEY1 0 genome.wustl.edu 37 6 83835317 83835317 + Missense_Mutation SNP A A T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 83835317 83835317 A T SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known missense c.1584 p.E528D 1.000 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 113 0 0 89 15 14.4231 DOPEY1 0 genome.wustl.edu 37 6 83845508 83845508 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 83845508 83845508 T C SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known missense c.3041 p.V1014A 1.000 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 157 0 0 146 12 7.59494 DOPEY1 0 genome.wustl.edu 37 6 83848526 83848526 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 83848526 83848526 C T SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known silent c.4765 p.L1589 1.000 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 123 0 0 97 25 20.4918 DOPEY1 0 genome.wustl.edu 37 6 83863283 83863283 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 83863283 83863283 T C SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known silent c.6183 p.V2061 0.982 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 117 0 0 104 9 7.9646 DOPEY1 0 genome.wustl.edu 37 6 83877659 83877659 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 83877659 83877659 C T SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known missense c.7171 p.R2391C 1.000 NULL pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 41 0 0 45 6 11.7647 PGM3 0 genome.wustl.edu 37 6 83900638 83900638 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 83900638 83900638 C T SNP PGM3 ENST00000513973 human ensembl 74_37 -1 known missense c.94 p.A32T 1.000 pirsf_PAGM pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,pirsf_PAGM - no_errors PGM3 HGNC ENSG00000013375 100 0 0 93 13 12.2642 SLC35B3 0 genome.wustl.edu 37 6 8428259 8428259 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 8428259 8428259 G A SNP SLC35B3 ENST00000379660 human ensembl 74_37 -1 known silent c.330 p.S110 1.000 pfam_UAA pfam_UAA - no_errors SLC35B3 HGNC ENSG00000124786 226 0 0 216 38 14.9606 SYNCRIP 0 genome.wustl.edu 37 6 86324613 86324613 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 86324613 86324613 C T SNP SYNCRIP ENST00000369622 human ensembl 74_37 -1 known missense c.1733 p.R578H 1.000 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors SYNCRIP HGNC ENSG00000135316 111 0 0 108 20 15.625 HTR1E 0 genome.wustl.edu 37 6 87725357 87725357 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 87725357 87725357 A G SNP HTR1E ENST00000305344 human ensembl 74_37 +1 known missense c.305 p.D102G 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR1E HGNC ENSG00000168830 74 0 0 69 16 18.8235 HTR1E 0 genome.wustl.edu 37 6 87725457 87725457 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 87725457 87725457 G A SNP HTR1E ENST00000305344 human ensembl 74_37 +1 known silent c.405 p.T135 0.071 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR1E HGNC ENSG00000168830 89 0 0 71 11 13.4146 SMIM8 0 genome.wustl.edu 37 6 88049953 88049953 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 88049953 88049953 G A SNP SMIM8 ENST00000229570 human ensembl 74_37 +1 known silent c.255 p.G85 0.956 NULL NULL - no_errors SMIM8 HGNC ENSG00000111850 76 0 0 83 24 22.4299 C6orf165 0 genome.wustl.edu 37 6 88128088 88128088 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 88128088 88128088 C T SNP C6orf165 ENST00000369562 human ensembl 74_37 +1 known missense c.794 p.A265V 0.994 pfam_DUF3508 pfam_DUF3508 - no_errors C6ORF165 Uniprot_gn ENSG00000272514 146 0 0 107 24 18.3206 ORC3 0 genome.wustl.edu 37 6 88321908 88321908 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 88321908 88321908 G A SNP ORC3 ENST00000257789 human ensembl 74_37 +1 known missense c.815 p.C272Y 1.000 pfam_ORC3 pfam_ORC3 - no_errors ORC3 HGNC ENSG00000135336 84 0 0 72 15 17.2414 ORC3 0 genome.wustl.edu 37 6 88372743 88372743 + Missense_Mutation SNP A A T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 88372743 88372743 A T SNP ORC3 ENST00000257789 human ensembl 74_37 +1 known missense c.1717 p.T573S 0.823 NULL pfam_ORC3 - no_errors ORC3 HGNC ENSG00000135336 71 0 0 73 6 7.59494 ORC3 0 genome.wustl.edu 37 6 88372813 88372813 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 88372813 88372813 C T SNP ORC3 ENST00000257789 human ensembl 74_37 +1 known missense c.1787 p.P596L 1.000 NULL pfam_ORC3 - no_errors ORC3 HGNC ENSG00000135336 75 0 0 79 12 13.1868 CNR1 0 genome.wustl.edu 37 6 88854116 88854116 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 88854116 88854116 G A SNP CNR1 ENST00000369499 human ensembl 74_37 -1 known missense c.878 p.A293V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Cnbnoid_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn - no_errors CNR1 HGNC ENSG00000118432 57 0 0 48 9 15.7895 CNR1 0 genome.wustl.edu 37 6 88854156 88854156 + Missense_Mutation SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 88854156 88854156 T A SNP CNR1 ENST00000369499 human ensembl 74_37 -1 known missense c.838 p.I280F 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn - no_errors CNR1 HGNC ENSG00000118432 74 0 0 53 7 11.6667 PM20D2 0 genome.wustl.edu 37 6 89868083 89868083 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 89868083 89868083 C A SNP PM20D2 ENST00000275072 human ensembl 74_37 +1 known missense c.952 p.L318I 0.999 pfam_Peptidase_M20,pirsf_Pept_M20D_amidohydro_pred pfam_Peptidase_M20_dimer,pfam_Peptidase_M20,superfamily_Peptidase_M20_dimer,pirsf_Pept_M20D_amidohydro_pred - no_errors PM20D2 HGNC ENSG00000146281 113 0 0 88 28 24.1379 MDN1 0 genome.wustl.edu 37 6 90363931 90363931 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 90363931 90363931 C T SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.15613 p.E5205K 0.675 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 166 0 0 119 27 18.4932 MDN1 0 genome.wustl.edu 37 6 90365627 90365627 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 90365627 90365627 G A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.15346 p.R5116C 1.000 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 57 0 0 35 9 20.4545 MDN1 0 genome.wustl.edu 37 6 90372631 90372631 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 90372631 90372631 G A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known silent c.14292 p.G4764 0.071 superfamily_ARM-type_fold,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 164 0 0 148 30 16.8539 MDN1 0 genome.wustl.edu 37 6 90405417 90405417 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 90405417 90405417 G A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known silent c.9678 p.S3226 1.000 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 62 0 0 56 8 12.5 MDN1 0 genome.wustl.edu 37 6 90420485 90420485 + Missense_Mutation SNP A A T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 90420485 90420485 A T SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.7680 p.S2560R 1.000 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 53 0 0 37 18 32.7273 MDN1 0 genome.wustl.edu 37 6 90422950 90422950 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 90422950 90422950 G A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known nonsense c.7135 p.R2379* 0.999 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 196 0 0 149 39 20.7447 MDN1 0 genome.wustl.edu 37 6 90433295 90433295 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 90433295 90433295 G A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.5714 p.A1905V 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,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 37 0 0 40 10 20 MDN1 0 genome.wustl.edu 37 6 90499580 90499580 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 90499580 90499580 C T SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known nonsense c.1149 p.W383* 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,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 68 0 0 60 5 7.69231 CASP8AP2 0 genome.wustl.edu 37 6 90572093 90572093 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 90572093 90572093 G A SNP CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 0.833 - - - no_errors CASP8AP2 HGNC ENSG00000118412 315 0 0 261 39 13 BACH2 0 genome.wustl.edu 37 6 90718450 90718450 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 90718450 90718450 G A SNP BACH2 ENST00000257749 human ensembl 74_37 -1 known silent c.114 p.D38 0.994 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC ENSG00000112182 95 0 0 87 23 20.9091 UFL1 0 genome.wustl.edu 37 6 96984150 96984150 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 96984150 96984150 G A SNP UFL1 ENST00000369278 human ensembl 74_37 +1 known missense c.686 p.R229H 1.000 pfam_E3_UFM1_ligase_1 pfam_E3_UFM1_ligase_1 - no_errors UFL1 HGNC ENSG00000014123 159 0 0 142 17 10.6918 KLHL32 0 genome.wustl.edu 37 6 97562260 97562260 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 97562260 97562260 G A SNP KLHL32 ENST00000369261 human ensembl 74_37 +1 known missense c.1229 p.R410H 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL32 HGNC ENSG00000186231 45 0 0 45 10 18.1818 POU3F2 0 genome.wustl.edu 37 6 99283807 99283807 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 99283807 99283807 G A SNP POU3F2 ENST00000328345 human ensembl 74_37 +1 known missense c.1058 p.R353H 1.000 pirsf_Transcription_factor_POU,superfamily_Homeodomain-like,pfscan_Homeobox_dom,prints_POU pirsf_Transcription_factor_POU,pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F2 HGNC ENSG00000184486 80 0 0 58 4 6.45161 POU3F2 0 genome.wustl.edu 37 6 99283841 99283841 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 99283841 99283841 C T SNP POU3F2 ENST00000328345 human ensembl 74_37 +1 known silent c.1092 p.S364 1.000 pirsf_Transcription_factor_POU,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU pirsf_Transcription_factor_POU,pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F2 HGNC ENSG00000184486 59 0 0 39 7 15.2174 OFCC1 0 genome.wustl.edu 37 6 9933039 9933039 + Missense_Mutation SNP G G C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 9933039 9933039 G C SNP OFCC1 ENST00000316020 human ensembl 74_37 -1 known missense c.424 p.Q142E 0.988 NULL NULL - no_errors OFCC1 HGNC ENSG00000181355 145 0 0 125 37 22.8395 PNISR 0 genome.wustl.edu 37 6 99849276 99849276 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 99849276 99849276 T C SNP PNISR ENST00000369239 human ensembl 74_37 -1 known missense c.1558 p.S520G 0.997 NULL NULL - no_errors PNISR HGNC ENSG00000132424 47 0 0 45 4 8.16327 PNISR 0 genome.wustl.edu 37 6 99855980 99855980 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 99855980 99855980 G A SNP PNISR ENST00000369239 human ensembl 74_37 -1 known missense c.841 p.R281C 1.000 NULL NULL - no_errors PNISR HGNC ENSG00000132424 103 0 0 82 21 20.3883 PNISR 0 genome.wustl.edu 37 6 99856111 99856111 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 99856111 99856111 C T SNP PNISR ENST00000369239 human ensembl 74_37 -1 known missense c.710 p.R237H 1.000 NULL NULL - no_errors PNISR HGNC ENSG00000132424 109 0 0 111 18 13.9535 GNB2 0 genome.wustl.edu 37 7 100275127 100275127 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 100275127 100275127 G A SNP GNB2 ENST00000303210 human ensembl 74_37 +1 known missense c.274 p.A92T 1.000 pirsf_Guanine_nucleotide-bd_bsu,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GNB2 HGNC ENSG00000172354 45 0 0 32 11 25.5814 GNB2 0 genome.wustl.edu 37 7 100275393 100275393 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 100275393 100275393 G A SNP GNB2 ENST00000303210 human ensembl 74_37 +1 known missense c.449 p.R150H 1.000 pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GNB2 HGNC ENSG00000172354 61 0 0 36 7 16.2791 ZAN 0 genome.wustl.edu 37 7 100389759 100389759 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 100389759 100389759 G A SNP ZAN ENST00000546213 human ensembl 74_37 +1 known missense c.2948 p.S983N 0.982 NULL pfam_VWF_type-D,pfam_TIL_dom,pfam_Unchr_dom_Cys-rich,pfam_EG-like_dom,superfamily_TIL_dom,smart_EG-like_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_EG-like_dom - no_errors ZAN HGNC ENSG00000146839 18 0 0 14 4 22.2222 EPHB4 0 genome.wustl.edu 37 7 100421410 100421410 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 100421410 100421410 C T SNP EPHB4 ENST00000358173 human ensembl 74_37 -1 known silent c.267 p.T89 0.073 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,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 21 0 0 15 13 46.4286 SLC12A9 0 genome.wustl.edu 37 7 100459098 100459098 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 100459098 100459098 C T SNP SLC12A9 ENST00000354161 human ensembl 74_37 +1 known silent c.1428 p.G476 0.786 pfam_AA-permease/SLC12A_dom pfam_AA-permease/SLC12A_dom - no_errors SLC12A9 HGNC ENSG00000146828 84 0 0 40 28 41.1765 SLC12A9 0 genome.wustl.edu 37 7 100460410 100460410 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 100460410 100460410 C T SNP SLC12A9 ENST00000354161 human ensembl 74_37 +1 known missense c.1819 p.R607C 1.000 NULL pfam_AA-permease/SLC12A_dom - no_errors SLC12A9 HGNC ENSG00000146828 98 0 0 67 13 16.25 SRRT 0 genome.wustl.edu 37 7 100485018 100485018 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 100485018 100485018 G A SNP SRRT ENST00000388793 human ensembl 74_37 +1 known missense c.2050 p.A684T 1.000 pfam_Arsenite-R_2 pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 103 1 0.961538 59 22 27.1605 ACHE 0 genome.wustl.edu 37 7 100491577 100491577 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 100491577 100491577 C T SNP ACHE ENST00000302913 human ensembl 74_37 -1 known missense c.277 p.A93T 0.998 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors ACHE HGNC ENSG00000087085 73 0 0 63 15 19.2308 MUC12 0 genome.wustl.edu 37 7 100648525 100648525 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 100648525 100648525 C T SNP MUC12 ENST00000536621 human ensembl 74_37 +1 known missense c.14681 p.A4894V 0.001 NULL pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 10 0 0 10 3 23.0769 MUC17 0 genome.wustl.edu 37 7 100675395 100675395 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 100675395 100675395 C T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.698 p.A233V 0.002 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 267 0 0 225 22 8.90688 MUC17 0 genome.wustl.edu 37 7 100676841 100676841 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 100676841 100676841 C T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.2144 p.T715I 0.011 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 437 0 0 393 45 10.274 MUC17 0 genome.wustl.edu 37 7 100681920 100681920 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 100681920 100681920 C T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.7223 p.P2408L 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 451 1 0.221239 446 48 9.7166 MUC17 0 genome.wustl.edu 37 7 100695101 100695101 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 100695101 100695101 G A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.12961 p.A4321T 0.012 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 109 0 0 80 28 25.9259 CUX1 0 genome.wustl.edu 37 7 101559425 101559425 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 101559425 101559425 G A SNP CUX1 ENST00000360264 human ensembl 74_37 +1 known missense c.94 p.A32T 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 185 0 0 134 51 27.5676 CUX1 0 genome.wustl.edu 37 7 101917564 101917564 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 101917564 101917564 C T SNP CUX1 ENST00000292538 human ensembl 74_37 +1 known missense c.1433 p.A478V 1.000 pfam_CASP_C pfam_CASP_C,superfamily_LemA-like_dom - no_errors CUX1 HGNC ENSG00000257923 86 0 0 56 21 27.2727 LRWD1 0 genome.wustl.edu 37 7 102106665 102106665 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 102106665 102106665 C T SNP LRWD1 ENST00000292616 human ensembl 74_37 +1 known missense c.380 p.A127V 0.005 NULL pfam_WD40_repeat,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LRWD1 HGNC ENSG00000161036 92 0 0 74 25 25.2525 NFE4 0 genome.wustl.edu 37 7 102613976 102613976 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 102613976 102613976 G A SNP NFE4 ENST00000420058 human ensembl 74_37 +1 known rna NULL NULL 0.045 - - - no_errors NFE4 HGNC ENSG00000230257 37 0 0 27 10 27.027 SLC26A5 0 genome.wustl.edu 37 7 103030938 103030938 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 103030938 103030938 C A SNP SLC26A5 ENST00000306312 human ensembl 74_37 -1 known missense c.1249 p.A417S 1.000 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A5 HGNC ENSG00000170615 166 0 0 118 12 9.23077 RELN 0 genome.wustl.edu 37 7 103629618 103629618 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 103629618 103629618 C T SNP RELN ENST00000424685 human ensembl 74_37 -1 known silent c.186 p.A62 0.979 pfam_Reeler_dom,pfscan_Reeler_dom pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 74 0 0 41 14 25.4545 KMT2E 0 genome.wustl.edu 37 7 104747108 104747108 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 104747108 104747108 G A SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known silent c.2736 p.T912 1.000 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 207 1 0.480769 153 47 23.5 KMT2E 0 genome.wustl.edu 37 7 104753201 104753201 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 104753201 104753201 G A SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known silent c.4998 p.S1666 0.313 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 67 0 0 56 6 9.67742 SRPK2 0 genome.wustl.edu 37 7 104783607 104783607 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 104783607 104783607 G A SNP SRPK2 ENST00000393651 human ensembl 74_37 -1 known silent c.984 p.G328 0.001 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors SRPK2 HGNC ENSG00000135250 109 0 0 107 16 13.0081 SRPK2 0 genome.wustl.edu 37 7 104807824 104807824 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 104807824 104807824 G A SNP SRPK2 ENST00000393651 human ensembl 74_37 -1 known missense c.514 p.H172Y 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 SRPK2 HGNC ENSG00000135250 96 0 0 84 7 7.69231 CDHR3 0 genome.wustl.edu 37 7 105662698 105662698 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 105662698 105662698 G A SNP CDHR3 ENST00000317716 human ensembl 74_37 +1 known missense c.1880 p.R627H 0.479 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR3 HGNC ENSG00000128536 161 0 0 133 8 5.67376 HBP1 0 genome.wustl.edu 37 7 106827054 106827054 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 106827054 106827054 G A SNP HBP1 ENST00000222574 human ensembl 74_37 +1 known nonsense c.693 p.W231* 1.000 pfam_Ataxin-1_HBP1,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 pfam_Ataxin-1_HBP1,pfam_HMG_box_dom,superfamily_Ataxin-1_HBP1,superfamily_HMG_box_dom,smart_Ataxin_AXH_dom,smart_HMG_box_dom,pfscan_Ataxin-1_HBP1,pfscan_HMG_box_dom - no_errors HBP1 HGNC ENSG00000105856 104 1 0.952381 89 22 19.8198 GPR22 0 genome.wustl.edu 37 7 107115658 107115658 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 107115658 107115658 C T SNP GPR22 ENST00000304402 human ensembl 74_37 +1 known nonsense c.1153 p.R385* 0.993 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR22 HGNC ENSG00000172209 94 0 0 60 24 28.5714 SLC26A4 0 genome.wustl.edu 37 7 107323732 107323732 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 107323732 107323732 C T SNP SLC26A4 ENST00000265715 human ensembl 74_37 +1 known missense c.851 p.A284V 1.000 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A4 HGNC ENSG00000091137 95 0 0 70 21 23.0769 SLC26A4 0 genome.wustl.edu 37 7 107334884 107334884 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 107334884 107334884 G A SNP SLC26A4 ENST00000265715 human ensembl 74_37 +1 known missense c.1300 p.A434T 0.998 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A4 HGNC ENSG00000091137 66 0 0 56 10 15.1515 LAMB4 0 genome.wustl.edu 37 7 107671311 107671311 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 107671311 107671311 G A SNP LAMB4 ENST00000205386 human ensembl 74_37 -1 known silent c.4932 p.H1644 0.000 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 136 0 0 132 13 8.96552 DOCK4 0 genome.wustl.edu 37 7 111407090 111407090 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 111407090 111407090 G A SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known missense c.3913 p.R1305W 0.990 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 146 0 0 100 41 29.078 DOCK4 0 genome.wustl.edu 37 7 111409619 111409619 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 111409619 111409619 T C SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known missense c.3794 p.H1265R 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 45 0 0 34 6 15 DOCK4 0 genome.wustl.edu 37 7 111629103 111629103 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 111629103 111629103 C T SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known missense c.431 p.R144H 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 28 0 0 23 5 17.8571 DOCK4 0 genome.wustl.edu 37 7 111629121 111629121 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 111629121 111629121 C T SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known missense c.413 p.R138Q 0.999 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 37 0 0 26 11 29.7297 TMEM168 0 genome.wustl.edu 37 7 112424684 112424684 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 112424684 112424684 A G SNP TMEM168 ENST00000312814 human ensembl 74_37 -1 known missense c.197 p.V66A 0.999 NULL superfamily_ConA-like_lec_gl_sf - no_errors TMEM168 HGNC ENSG00000146802 80 0 0 69 4 5.47945 GPR85 0 genome.wustl.edu 37 7 112724294 112724294 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 112724294 112724294 G A SNP GPR85 ENST00000297146 human ensembl 74_37 -1 known silent c.483 p.G161 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR85 HGNC ENSG00000164604 96 0 0 84 7 7.69231 PPP1R3A 0 genome.wustl.edu 37 7 113558291 113558291 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 113558291 113558291 C T SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.761 p.G254D 1.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 140 0 0 122 26 17.5676 PPP1R3A 0 genome.wustl.edu 37 7 113558550 113558550 + Missense_Mutation SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 113558550 113558550 T A SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.502 p.T168S 1.000 pfam_CBM_21,pfscan_CBM_21 pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 67 0 0 53 18 25.3521 THSD7A 0 genome.wustl.edu 37 7 11464343 11464343 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 11464343 11464343 G A SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known silent c.3363 p.G1121 0.632 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 256 0 0 214 43 16.7315 MET 0 genome.wustl.edu 37 7 116340097 116340097 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 116340097 116340097 C T SNP MET ENST00000318493 human ensembl 74_37 +1 known missense c.959 p.A320V 1.000 pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MET HGNC ENSG00000105976 42 0 0 48 10 17.2414 MET 0 genome.wustl.edu 37 7 116340317 116340317 + Missense_Mutation SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 116340317 116340317 T A SNP MET ENST00000318493 human ensembl 74_37 +1 known missense c.1179 p.N393K 0.997 pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MET HGNC ENSG00000105976 130 1 0.763359 120 12 9.09091 MET 0 genome.wustl.edu 37 7 116417481 116417481 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 116417481 116417481 A G SNP MET ENST00000318493 human ensembl 74_37 +1 known missense c.3352 p.N1118D 0.587 pirsf_Tyr_kinase_HGF/MSP_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_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MET HGNC ENSG00000105976 128 0 0 74 29 28.1553 CTTNBP2 0 genome.wustl.edu 37 7 117501313 117501313 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 117501313 117501313 C T SNP CTTNBP2 ENST00000160373 human ensembl 74_37 -1 known missense c.139 p.V47M 0.994 pfam_Cortactin-binding_p2_N pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC ENSG00000077063 19 0 0 17 6 26.087 KCND2 0 genome.wustl.edu 37 7 119915461 119915461 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 119915461 119915461 C T SNP KCND2 ENST00000331113 human ensembl 74_37 +1 known missense c.775 p.R259C 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 62 0 0 48 20 29.4118 TMEM106B 0 genome.wustl.edu 37 7 12263863 12263863 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 12263863 12263863 T C SNP TMEM106B ENST00000396667 human ensembl 74_37 +1 known missense c.293 p.V98A 1.000 pfam_DUF1356_TMEM106 pfam_DUF1356_TMEM106 - no_errors TMEM106B HGNC ENSG00000106460 235 0 0 226 14 5.83333 IQUB 0 genome.wustl.edu 37 7 123109382 123109382 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 123109382 123109382 C T SNP IQUB ENST00000324698 human ensembl 74_37 -1 known silent c.1467 p.T489 0.991 NULL pfam_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors IQUB HGNC ENSG00000164675 86 0 0 77 21 21.4286 SPAM1 0 genome.wustl.edu 37 7 123593822 123593822 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 123593822 123593822 G T SNP SPAM1 ENST00000340011 human ensembl 74_37 +1 known missense c.198 p.E66D 0.000 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors SPAM1 HGNC ENSG00000106304 63 0 0 49 19 27.9412 POT1 0 genome.wustl.edu 37 7 124482994 124482994 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 124482994 124482994 C T SNP POT1 ENST00000357628 human ensembl 74_37 -1 known missense c.1030 p.E344K 1.000 NULL pfam_Telomer_end-bd_POT1/Cdc13,superfamily_NA-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13 - no_errors POT1 HGNC ENSG00000128513 47 0 0 31 5 13.8889 GRM8 0 genome.wustl.edu 37 7 126173421 126173421 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 126173421 126173421 C T SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known missense c.2015 p.R672H 1.000 pfam_GPCR_3_C,prints_GPCR_3,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 95 0 0 84 8 8.69565 MIR592 0 genome.wustl.edu 37 7 126698210 126698210 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 126698210 126698210 G A SNP MIR592 ENST00000384959 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR592 HGNC ENSG00000207692 30 0 0 16 8 33.3333 GRM8 0 genome.wustl.edu 37 7 126883250 126883250 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 126883250 126883250 G A SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known silent c.9 p.C3 1.000 prints_GPCR_3_mtglu_rcpt_8 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 72 0 0 65 10 13.3333 GCC1 0 genome.wustl.edu 37 7 127222255 127222255 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 127222255 127222255 C T SNP GCC1 ENST00000321407 human ensembl 74_37 -1 known missense c.2141 p.S714N 1.000 superfamily_ARM-type_fold,pfscan_GRIP pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP - no_errors GCC1 HGNC ENSG00000179562 114 0 0 74 25 25.2525 FSCN3 0 genome.wustl.edu 37 7 127240362 127240362 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 127240362 127240362 C T SNP FSCN3 ENST00000265825 human ensembl 74_37 +1 known missense c.1406 p.A469V 1.000 superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN3 HGNC ENSG00000106328 60 0 0 40 10 20 ARL4A 0 genome.wustl.edu 37 7 12727924 12727924 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 12727924 12727924 G A SNP ARL4A ENST00000356797 human ensembl 74_37 +1 known silent c.45 p.L15 0.653 pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_SRP_receptor_beta_su,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom - no_errors ARL4A HGNC ENSG00000122644 126 0 0 88 52 37.1429 ARL4A 0 genome.wustl.edu 37 7 12728427 12728427 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 12728427 12728427 A G SNP ARL4A ENST00000356797 human ensembl 74_37 +1 known missense c.548 p.H183R 1.000 pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Ras pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_SRP_receptor_beta_su,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom - no_errors ARL4A HGNC ENSG00000122644 94 0 0 85 31 26.7241 LRRC4 0 genome.wustl.edu 37 7 127669682 127669682 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 127669682 127669682 G A SNP LRRC4 ENST00000249363 human ensembl 74_37 -1 known missense c.1012 p.R338C 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4 HGNC ENSG00000128594 29 0 0 27 10 27.027 RBM28 0 genome.wustl.edu 37 7 127964664 127964664 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 127964664 127964664 C T SNP RBM28 ENST00000223073 human ensembl 74_37 -1 known silent c.1287 p.T429 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM28 HGNC ENSG00000106344 189 0 0 180 19 9.54774 FLNC 0 genome.wustl.edu 37 7 128482937 128482937 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 128482937 128482937 G A SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.2479 p.D827N 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 27 0 0 36 4 10 FLNC 0 genome.wustl.edu 37 7 128486822 128486822 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 128486822 128486822 G A SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.4151 p.G1384D 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 24 0 0 22 3 12 STRIP2 0 genome.wustl.edu 37 7 129122851 129122851 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 129122851 129122851 C T SNP STRIP2 ENST00000249344 human ensembl 74_37 +1 known missense c.2218 p.R740C 1.000 pfam_DUF3402 pfam_DUF3402,pfam_N1221 - no_errors STRIP2 HGNC ENSG00000128578 62 0 0 54 7 11.4754 CPA1 0 genome.wustl.edu 37 7 130027747 130027747 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 130027747 130027747 G A SNP CPA1 ENST00000011292 human ensembl 74_37 +1 known silent c.1155 p.G385 0.972 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA1 HGNC ENSG00000091704 284 0 0 285 28 8.94569 MEST 0 genome.wustl.edu 37 7 130138010 130138010 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 130138010 130138010 G A SNP MEST ENST00000223215 human ensembl 74_37 +1 known missense c.370 p.A124T 1.000 pfam_AB_hydrolase_1,pfam_DUF1057 pfam_AB_hydrolase_1,pfam_DUF1057,prints_Epox_hydrolase-like - no_errors MEST HGNC ENSG00000106484 96 0 0 80 9 10.1124 PLXNA4 0 genome.wustl.edu 37 7 131829950 131829950 + Missense_Mutation SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 131829950 131829950 T A SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.5153 p.D1718V 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 78 0 0 64 15 18.9873 PLXNA4 0 genome.wustl.edu 37 7 132174113 132174113 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 132174113 132174113 C T SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.1309 p.A437T 0.997 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 59 0 0 56 4 6.66667 PLXNA4 0 genome.wustl.edu 37 7 132192896 132192896 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 132192896 132192896 G A SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.557 p.A186V 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 124 0 0 91 31 25.4098 CALD1 0 genome.wustl.edu 37 7 134632408 134632408 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 134632408 134632408 C T SNP CALD1 ENST00000361388 human ensembl 74_37 +1 known missense c.995 p.A332V 0.997 pfam_Caldesmon_LSP pfam_Caldesmon_LSP,prints_Caldesmon - no_errors CALD1 HGNC ENSG00000122786 19 0 0 11 6 35.2941 NUP205 0 genome.wustl.edu 37 7 135303205 135303205 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 135303205 135303205 C T SNP NUP205 ENST00000285968 human ensembl 74_37 +1 known silent c.3817 p.L1273 0.959 pfam_Nup186/Nup192/Nup205 pfam_Nup186/Nup192/Nup205 - no_errors NUP205 HGNC ENSG00000155561 117 0 0 93 28 23.1405 NUP205 0 genome.wustl.edu 37 7 135304191 135304191 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 135304191 135304191 G A SNP NUP205 ENST00000285968 human ensembl 74_37 +1 known silent c.3984 p.A1328 0.240 pfam_Nup186/Nup192/Nup205 pfam_Nup186/Nup192/Nup205 - no_errors NUP205 HGNC ENSG00000155561 136 0 0 111 23 17.1642 SLC13A4 0 genome.wustl.edu 37 7 135390380 135390380 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 135390380 135390380 C T SNP SLC13A4 ENST00000354042 human ensembl 74_37 -1 known missense c.557 p.S186N 0.021 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM - no_errors SLC13A4 HGNC ENSG00000164707 122 0 0 82 31 27.4336 MIR490 0 genome.wustl.edu 37 7 136848959 136848959 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 136848959 136848959 G A SNP MIR490 ENST00000425981 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors hsa-mir-490 miRBase ENSG00000234352 73 0 0 52 16 23.5294 TMEM213 0 genome.wustl.edu 37 7 138487646 138487646 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 138487646 138487646 C T SNP TMEM213 ENST00000422794 human ensembl 74_37 +1 known silent c.306 p.N102 0.000 NULL NULL - no_errors TMEM213 HGNC ENSG00000214128 28 0 0 26 12 31.5789 KIAA1549 0 genome.wustl.edu 37 7 138593813 138593813 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 138593813 138593813 C T SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known missense c.3200 p.R1067H 0.995 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 25 0 0 37 4 9.7561 KIAA1549 0 genome.wustl.edu 37 7 138604036 138604036 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 138604036 138604036 C T SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known silent c.336 p.P112 0.056 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 103 0 0 54 26 32.5 UBN2 0 genome.wustl.edu 37 7 138978728 138978728 + Splice_Site SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 138978728 138978728 G A SNP UBN2 ENST00000473989 human ensembl 74_37 +1 known splice_site c.3994+1 e17+1 1.000 - - - no_errors UBN2 HGNC ENSG00000157741 38 0 0 27 16 37.2093 ETV1 0 genome.wustl.edu 37 7 13971341 13971341 + Silent SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 13971341 13971341 G T SNP ETV1 ENST00000405218 human ensembl 74_37 -1 known silent c.588 p.S196 0.990 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV1 HGNC ENSG00000006468 92 0 0 52 6 10.3448 TAS2R3 0 genome.wustl.edu 37 7 141464395 141464395 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 141464395 141464395 C A SNP TAS2R3 ENST00000247879 human ensembl 74_37 +1 known missense c.437 p.A146E 0.009 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R3 HGNC ENSG00000127362 110 0 0 71 36 33.6449 MGAM 0 genome.wustl.edu 37 7 141759709 141759709 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 141759709 141759709 C T SNP MGAM ENST00000549489 human ensembl 74_37 +1 known silent c.4002 p.G1334 0.001 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 24 0 0 15 4 21.0526 MGAM 0 genome.wustl.edu 37 7 141796213 141796213 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 141796213 141796213 C T SNP MGAM ENST00000549489 human ensembl 74_37 +1 known missense c.5002 p.R1668C 0.000 pfam_Glyco_hydro_31 pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 46 0 0 42 10 19.2308 MGAM 0 genome.wustl.edu 37 7 141797431 141797431 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 141797431 141797431 C T SNP MGAM ENST00000549489 human ensembl 74_37 +1 known silent c.5043 p.R1681 1.000 pfam_Glyco_hydro_31 pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 61 0 0 34 7 17.0732 TRPV5 0 genome.wustl.edu 37 7 142609695 142609695 + Missense_Mutation SNP T T G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 142609695 142609695 T G SNP TRPV5 ENST00000265310 human ensembl 74_37 -1 known missense c.1741 p.T581P 1.000 tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV5,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV5 HGNC ENSG00000127412 78 0 0 70 7 9.09091 GSTK1 0 genome.wustl.edu 37 7 142962190 142962190 + Missense_Mutation SNP G G C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 142962190 142962190 G C SNP GSTK1 ENST00000479303 human ensembl 74_37 +1 known missense c.389 p.S130T 0.598 NULL pfam_DSBA-like_thioredoxin_dom,superfamily_Thioredoxin-like_fold - no_errors GSTK1 HGNC ENSG00000197448 41 0 0 31 6 16.2162 ZYX 0 genome.wustl.edu 37 7 143087068 143087068 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 143087068 143087068 G A SNP ZYX ENST00000322764 human ensembl 74_37 +1 known missense c.1612 p.E538K 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZYX HGNC ENSG00000159840 63 0 0 50 20 28.5714 FAM115A 0 genome.wustl.edu 37 7 143573264 143573264 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 143573264 143573264 G A SNP FAM115A ENST00000479870 human ensembl 74_37 -1 known silent c.438 p.G146 0.643 NULL NULL - no_errors FAM115A HGNC ENSG00000198420 69 0 0 65 6 8.4507 OR2F2 0 genome.wustl.edu 37 7 143632824 143632824 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 143632824 143632824 C A SNP OR2F2 ENST00000408955 human ensembl 74_37 +1 known missense c.499 p.P167T 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2F2 HGNC ENSG00000221910 72 0 0 48 25 34.2466 OR2F1 0 genome.wustl.edu 37 7 143657808 143657808 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 143657808 143657808 G A SNP OR2F1 ENST00000392899 human ensembl 74_37 +1 known missense c.745 p.A249T 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2F1 HGNC ENSG00000213215 111 0 0 74 25 25.2525 DGKB 0 genome.wustl.edu 37 7 14653016 14653016 + Missense_Mutation SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 14653016 14653016 T A SNP DGKB ENST00000258767 human ensembl 74_37 -1 known missense c.1310 p.H437L 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKB HGNC ENSG00000136267 14 0 0 12 3 20 CNTNAP2 0 genome.wustl.edu 37 7 147336252 147336252 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 147336252 147336252 T C SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.1952 p.V651A 0.785 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 101 0 0 89 20 18.3486 DGKB 0 genome.wustl.edu 37 7 14758253 14758253 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 14758253 14758253 G A SNP DGKB ENST00000258767 human ensembl 74_37 -1 known missense c.380 p.T127M 0.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKB HGNC ENSG00000136267 73 0 0 49 23 31.9444 CUL1 0 genome.wustl.edu 37 7 148456729 148456729 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 148456729 148456729 C T SNP CUL1 ENST00000325222 human ensembl 74_37 +1 known silent c.624 p.Y208 0.965 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 62 0 0 36 15 29.4118 CUL1 0 genome.wustl.edu 37 7 148496426 148496426 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 148496426 148496426 C T SNP CUL1 ENST00000325222 human ensembl 74_37 +1 known silent c.2196 p.G732 0.839 pfam_Cullin_neddylation_domain,smart_Cullin_neddylation_domain 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 63 0 0 61 5 7.57576 EZH2 0 genome.wustl.edu 37 7 148544339 148544339 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 148544339 148544339 G A SNP EZH2 ENST00000320356 human ensembl 74_37 -1 known missense c.52 p.R18C 1.000 NULL pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH2 HGNC ENSG00000106462 261 0 0 206 21 9.2511 ZNF783 0 genome.wustl.edu 37 7 148979250 148979250 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 148979250 148979250 G A SNP ZNF783 ENST00000434415 human ensembl 74_37 +1 known missense c.1457 p.R486H 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF783 HGNC ENSG00000204946 29 0 0 12 4 25 ZNF783 0 genome.wustl.edu 37 7 148979342 148979342 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 148979342 148979342 G A SNP ZNF783 ENST00000434415 human ensembl 74_37 +1 known missense c.1549 p.A517T 0.582 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF783 HGNC ENSG00000204946 11 0 0 7 3 30 ZNF767 0 genome.wustl.edu 37 7 149317123 149317123 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 149317123 149317123 C T SNP ZNF767 ENST00000463567 human ensembl 74_37 -1 known rna NULL NULL 0.994 - - - no_errors ZNF767 HGNC ENSG00000133624 23 0 0 22 4 15.3846 ZBED6CL 0 genome.wustl.edu 37 7 150027622 150027622 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 150027622 150027622 C T SNP ZBED6CL ENST00000343855 human ensembl 74_37 +1 known silent c.129 p.G43 0.000 NULL NULL - no_errors ZBED6CL HGNC ENSG00000188707 81 0 0 45 10 18.1818 REPIN1 0 genome.wustl.edu 37 7 150069158 150069158 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 150069158 150069158 G T SNP REPIN1 ENST00000489432 human ensembl 74_37 +1 known missense c.999 p.K333N 0.880 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REPIN1 HGNC ENSG00000214022 27 0 0 17 10 37.037 ZNF775 0 genome.wustl.edu 37 7 150094498 150094498 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 150094498 150094498 C T SNP ZNF775 ENST00000329630 human ensembl 74_37 +1 known missense c.929 p.A310V 0.745 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF775 HGNC ENSG00000196456 11 0 0 9 4 30.7692 KCNH2 0 genome.wustl.edu 37 7 150648773 150648773 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 150648773 150648773 C T SNP KCNH2 ENST00000262186 human ensembl 74_37 -1 known missense c.1708 p.A570T 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,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_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH2 HGNC ENSG00000055118 22 0 0 15 5 25 ABCF2 0 genome.wustl.edu 37 7 150912693 150912693 + Missense_Mutation SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 150912693 150912693 T A SNP ABCF2 ENST00000222388 human ensembl 74_37 -1 known missense c.1527 p.Q509H 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 ABCF2 HGNC ENSG00000033050 261 0 0 204 71 25.8182 CHPF2 0 genome.wustl.edu 37 7 150932242 150932242 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 150932242 150932242 G A SNP CHPF2 ENST00000035307 human ensembl 74_37 +1 known silent c.372 p.V124 1.000 NULL pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHPF2 HGNC ENSG00000033100 45 0 0 31 9 22.5 ENSG00000272661 0 genome.wustl.edu 37 7 150937502 150937502 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 150937502 150937502 C T SNP ENSG00000272661 ENST00000607902 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors RP4-548D19.3 Clone_based_vega_gene ENSG00000272661 27 0 0 33 6 15.3846 KMT2C 0 genome.wustl.edu 37 7 151836295 151836295 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 151836295 151836295 G A SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.14681 p.A4894V 0.991 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom 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 73 0 0 33 12 26.6667 KMT2C 0 genome.wustl.edu 37 7 151836322 151836322 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 151836322 151836322 C T SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.14654 p.R4885H 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom 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 74 0 0 53 5 8.62069 KMT2C 0 genome.wustl.edu 37 7 151873336 151873336 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 151873336 151873336 G A SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known nonsense c.9202 p.Q3068* 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_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 160 0 0 139 8 5.44218 KMT2C 0 genome.wustl.edu 37 7 151878430 151878430 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 151878430 151878430 T C SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.6515 p.D2172G 0.981 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 100 0 0 81 15 15.625 KMT2C 0 genome.wustl.edu 37 7 151878749 151878749 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 151878749 151878749 G A SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known nonsense c.6196 p.R2066* 0.998 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 80 0 0 37 18 32.7273 AGMO 0 genome.wustl.edu 37 7 15240962 15240962 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 15240962 15240962 G A SNP AGMO ENST00000342526 human ensembl 74_37 -1 known missense c.1286 p.A429V 0.064 NULL pfam_Fatty_acid_hydroxylase - no_errors AGMO HGNC ENSG00000187546 60 0 0 47 17 26.5625 INTS1 0 genome.wustl.edu 37 7 1538054 1538054 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 1538054 1538054 C T SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known silent c.1803 p.A601 0.084 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 20 0 0 18 4 18.1818 DPP6 0 genome.wustl.edu 37 7 154561150 154561150 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 154561150 154561150 G A SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known missense c.907 p.A303T 0.994 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 80 0 0 39 13 25 PTPRN2 0 genome.wustl.edu 37 7 157369425 157369425 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 157369425 157369425 C T SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known missense c.2732 p.R911K 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_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 13 0 0 11 4 26.6667 MIR595 0 genome.wustl.edu 37 7 158325474 158325474 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 158325474 158325474 C T SNP MIR595 ENST00000384905 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR595 HGNC ENSG00000207637 140 0 0 104 18 14.7541 PTPRN2 0 genome.wustl.edu 37 7 158334185 158334185 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 158334185 158334185 A G SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known silent c.114 p.G38 0.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 115 0 0 77 24 23.7624 FERD3L 0 genome.wustl.edu 37 7 19184742 19184742 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 19184742 19184742 G A SNP FERD3L ENST00000275461 human ensembl 74_37 -1 known missense c.244 p.R82C 0.843 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors FERD3L HGNC ENSG00000146618 27 0 0 19 9 32.1429 MAD1L1 0 genome.wustl.edu 37 7 1997289 1997289 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 1997289 1997289 G A SNP MAD1L1 ENST00000265854 human ensembl 74_37 -1 known missense c.1571 p.A524V 0.068 pfam_Mad1 pfam_Mad1 - no_errors MAD1L1 HGNC ENSG00000002822 48 0 0 33 9 21.4286 DNAH11 0 genome.wustl.edu 37 7 21627789 21627789 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 21627789 21627789 T C SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known silent c.1818 p.C606 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 51 0 0 63 15 19.2308 CDCA7L 0 genome.wustl.edu 37 7 21943869 21943869 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 21943869 21943869 C T SNP CDCA7L ENST00000406877 human ensembl 74_37 -1 known silent c.1056 p.T352 0.009 pfam_Znf-4CXXC_R1 pfam_Znf-4CXXC_R1 - no_errors CDCA7L HGNC ENSG00000164649 53 0 0 34 12 26.087 FAM221A 0 genome.wustl.edu 37 7 23731194 23731194 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 23731194 23731194 C T SNP FAM221A ENST00000344962 human ensembl 74_37 +1 known missense c.616 p.R206W 1.000 NULL NULL - no_errors FAM221A HGNC ENSG00000188732 95 0 0 95 9 8.65385 DFNA5 0 genome.wustl.edu 37 7 24789387 24789387 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 24789387 24789387 C T SNP DFNA5 ENST00000342947 human ensembl 74_37 -1 known missense c.7 p.A3T 1.000 pfam_Gasdermin pfam_Gasdermin - no_errors DFNA5 HGNC ENSG00000105928 120 0 0 107 8 6.95652 OSBPL3 0 genome.wustl.edu 37 7 24839866 24839866 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 24839866 24839866 C T SNP OSBPL3 ENST00000313367 human ensembl 74_37 -1 known missense c.2600 p.G867D 0.998 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL3 HGNC ENSG00000070882 38 0 0 27 7 20.5882 OSBPL3 0 genome.wustl.edu 37 7 24903211 24903211 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 24903211 24903211 C T SNP OSBPL3 ENST00000313367 human ensembl 74_37 -1 known silent c.681 p.A227 0.994 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL3 HGNC ENSG00000070882 102 0 0 64 30 31.9149 TTYH3 0 genome.wustl.edu 37 7 2698584 2698584 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 2698584 2698584 G A SNP TTYH3 ENST00000258796 human ensembl 74_37 +1 known missense c.1435 p.A479T 1.000 NULL pfam_Tweety - no_errors TTYH3 HGNC ENSG00000136295 156 0 0 79 31 28.1818 HOXA1 0 genome.wustl.edu 37 7 27134298 27134298 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 27134298 27134298 C T SNP HOXA1 ENST00000343060 human ensembl 74_37 -1 known missense c.769 p.A257T 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXA1 HGNC ENSG00000105991 93 0 0 73 18 19.7802 HOXA1 0 genome.wustl.edu 37 7 27135154 27135154 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 27135154 27135154 G A SNP HOXA1 ENST00000343060 human ensembl 74_37 -1 known silent c.378 p.C126 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXA1 HGNC ENSG00000105991 54 0 0 54 21 28 HOXA6 0 genome.wustl.edu 37 7 27185359 27185359 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 27185359 27185359 C T SNP HOXA6 ENST00000222728 human ensembl 74_37 -1 known missense c.620 p.R207H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA6 HGNC ENSG00000106006 155 0 0 76 36 32.1429 AMZ1 0 genome.wustl.edu 37 7 2740354 2740354 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 2740354 2740354 G A SNP AMZ1 ENST00000312371 human ensembl 74_37 +1 known missense c.269 p.R90H 0.012 NULL pfam_Pept_M54_archaemetzincn - no_errors AMZ1 HGNC ENSG00000174945 42 0 0 31 9 22.5 CARD11 0 genome.wustl.edu 37 7 2963993 2963993 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 2963993 2963993 C T SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known missense c.1814 p.S605N 0.971 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 37 0 0 24 7 22.5806 NEUROD6 0 genome.wustl.edu 37 7 31378581 31378581 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 31378581 31378581 G A SNP NEUROD6 ENST00000297142 human ensembl 74_37 -1 known missense c.302 p.A101V 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD6 HGNC ENSG00000164600 154 0 0 116 34 22.6667 CCDC129 0 genome.wustl.edu 37 7 31592727 31592727 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 31592727 31592727 C T SNP CCDC129 ENST00000451887 human ensembl 74_37 +1 known missense c.167 p.A56V 0.002 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 38 0 0 18 9 33.3333 BMPER 0 genome.wustl.edu 37 7 33945297 33945297 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 33945297 33945297 C T SNP BMPER ENST00000297161 human ensembl 74_37 +1 known silent c.72 p.C24 0.996 NULL pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C - no_errors BMPER HGNC ENSG00000164619 28 0 0 29 6 17.1429 BMPER 0 genome.wustl.edu 37 7 34118628 34118628 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 34118628 34118628 G A SNP BMPER ENST00000297161 human ensembl 74_37 +1 known missense c.1238 p.R413H 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C - no_errors BMPER HGNC ENSG00000164619 91 0 0 94 7 6.93069 DPY19L2P1 0 genome.wustl.edu 37 7 35131548 35131548 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 35131548 35131548 G A SNP DPY19L2P1 ENST00000436258 human ensembl 74_37 -1 known rna NULL NULL 0.985 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 56 0 0 46 6 11.5385 DPY19L2P1 0 genome.wustl.edu 37 7 35144294 35144294 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 35144294 35144294 G A SNP DPY19L2P1 ENST00000436258 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 60 0 0 57 17 22.973 ANLN 0 genome.wustl.edu 37 7 36447449 36447449 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 36447449 36447449 C T SNP ANLN ENST00000265748 human ensembl 74_37 +1 known missense c.980 p.T327M 0.676 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors ANLN HGNC ENSG00000011426 71 0 0 85 5 5.55556 ELMO1 0 genome.wustl.edu 37 7 37253022 37253022 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 37253022 37253022 G A SNP ELMO1 ENST00000310758 human ensembl 74_37 -1 known missense c.872 p.A291V 1.000 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 37 0 0 33 9 21.4286 ELMO1 0 genome.wustl.edu 37 7 37264526 37264526 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 37264526 37264526 G A SNP ELMO1 ENST00000310758 human ensembl 74_37 -1 known missense c.659 p.A220V 1.000 pfam_DUF3361,superfamily_ARM-type_fold pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 75 0 0 54 20 27.027 GPR141 0 genome.wustl.edu 37 7 37780303 37780303 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 37780303 37780303 T C SNP GPR141 ENST00000334425 human ensembl 74_37 +1 known missense c.308 p.F103S 0.995 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR141 HGNC ENSG00000187037 108 0 0 84 16 16 SFRP4 0 genome.wustl.edu 37 7 37947223 37947223 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 37947223 37947223 T C SNP SFRP4 ENST00000436072 human ensembl 74_37 -1 known missense c.899 p.D300G 1.000 superfamily_TIMP-like_OB-fold,pfscan_Netrin_domain pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP4 HGNC ENSG00000106483 46 0 0 51 14 21.5385 SDK1 0 genome.wustl.edu 37 7 3991379 3991379 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 3991379 3991379 G T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.977 p.S326I 0.939 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 53 0 0 40 8 16.6667 INHBA 0 genome.wustl.edu 37 7 41729601 41729601 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 41729601 41729601 G A SNP INHBA ENST00000242208 human ensembl 74_37 -1 known missense c.928 p.R310W 1.000 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu - no_errors INHBA HGNC ENSG00000122641 103 0 0 51 26 33.7662 GLI3 0 genome.wustl.edu 37 7 42085021 42085021 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 42085021 42085021 G A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.788 p.T263M 0.997 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 138 0 0 111 37 25 C7orf25 0 genome.wustl.edu 37 7 42949911 42949911 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 42949911 42949911 C T SNP C7orf25 ENST00000431882 human ensembl 74_37 -1 known missense c.763 p.A255T 0.755 pfam_DUF1308 pfam_DUF1308 - no_errors C7orf25 HGNC ENSG00000136197 85 0 0 72 5 6.49351 PSMA2 0 genome.wustl.edu 37 7 42967003 42967003 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 42967003 42967003 C T SNP PSMA2 ENST00000223321 human ensembl 74_37 -1 known missense c.97 p.A33T 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA2 HGNC ENSG00000106588 48 0 0 33 22 40 HECW1 0 genome.wustl.edu 37 7 43546741 43546741 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 43546741 43546741 C T SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known nonsense c.3637 p.Q1213* 1.000 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 68 0 0 74 5 6.32911 HECW1 0 genome.wustl.edu 37 7 43580834 43580834 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 43580834 43580834 G T SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known missense c.4092 p.R1364S 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 100 0 0 72 17 19.1011 HECW1 0 genome.wustl.edu 37 7 43594297 43594297 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 43594297 43594297 C T SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known silent c.4617 p.S1539 0.955 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 34 0 0 14 4 22.2222 POLR2J4 0 genome.wustl.edu 37 7 43982539 43982539 + RNA SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 43982539 43982539 T C SNP POLR2J4 ENST00000427076 human ensembl 74_37 -1 known rna NULL NULL 0.942 - - - no_errors POLR2J4 HGNC ENSG00000214783 96 0 0 83 32 27.8261 LINC00957 0 genome.wustl.edu 37 7 44079134 44079134 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 44079134 44079134 G A SNP LINC00957 ENST00000441052 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors LINC00957 HGNC ENSG00000235314 30 0 0 15 3 16.6667 DBNL 0 genome.wustl.edu 37 7 44092477 44092477 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 44092477 44092477 C T SNP DBNL ENST00000429716 human ensembl 74_37 +1 known missense c.151 p.R51C 0.009 NULL NULL - no_errors DBNL HGNC ENSG00000136279 23 0 0 11 7 38.8889 AEBP1 0 genome.wustl.edu 37 7 44147270 44147270 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 44147270 44147270 A G SNP AEBP1 ENST00000223357 human ensembl 74_37 +1 known missense c.710 p.D237G 1.000 NULL pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 48 0 0 39 3 7.14286 NUDCD3 0 genome.wustl.edu 37 7 44432048 44432048 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 44432048 44432048 C T SNP NUDCD3 ENST00000355451 human ensembl 74_37 -1 known missense c.823 p.A275T 1.000 superfamily_HSP20-like_chaperone,pfscan_CS_dom pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors NUDCD3 HGNC ENSG00000015676 131 0 0 113 7 5.83333 OGDH 0 genome.wustl.edu 37 7 44714124 44714124 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 44714124 44714124 C T SNP OGDH ENST00000222673 human ensembl 74_37 +1 known silent c.903 p.G301 0.007 pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDH HGNC ENSG00000105953 84 0 0 63 5 7.35294 ZMIZ2 0 genome.wustl.edu 37 7 44796067 44796067 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 44796067 44796067 G A SNP ZMIZ2 ENST00000309315 human ensembl 74_37 +1 known missense c.94 p.A32T 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ2 HGNC ENSG00000122515 57 0 0 35 16 31.3725 MYO1G 0 genome.wustl.edu 37 7 45010231 45010231 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 45010231 45010231 C T SNP MYO1G ENST00000258787 human ensembl 74_37 -1 known missense c.1177 p.V393M 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO1G HGNC ENSG00000136286 62 0 0 40 25 38.4615 RAMP3 0 genome.wustl.edu 37 7 45222982 45222982 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 45222982 45222982 C T SNP RAMP3 ENST00000242249 human ensembl 74_37 +1 known missense c.418 p.R140C 1.000 pfam_RAMP pfam_RAMP - no_errors RAMP3 HGNC ENSG00000122679 85 0 0 66 13 16.4557 ADCY1 0 genome.wustl.edu 37 7 45662269 45662269 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 45662269 45662269 C T SNP ADCY1 ENST00000297323 human ensembl 74_37 +1 known missense c.947 p.A316V 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 37 0 0 26 11 29.7297 ADCY1 0 genome.wustl.edu 37 7 45717589 45717589 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 45717589 45717589 G A SNP ADCY1 ENST00000297323 human ensembl 74_37 +1 known missense c.1727 p.R576H 1.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 130 0 0 97 12 11.0092 IGFBP1 0 genome.wustl.edu 37 7 45932600 45932600 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 45932600 45932600 C T SNP IGFBP1 ENST00000275525 human ensembl 74_37 +1 known silent c.690 p.C230 0.591 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata 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 72 0 0 41 23 35.9375 TNS3 0 genome.wustl.edu 37 7 47409180 47409180 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 47409180 47409180 C T SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known missense c.1063 p.A355T 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_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 39 0 0 26 14 35 TNS3 0 genome.wustl.edu 37 7 47479119 47479119 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 47479119 47479119 C T SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known missense c.116 p.R39H 0.954 pfscan_Phosphatase_tensin-typ 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 22 0 0 19 4 17.3913 PKD1L1 0 genome.wustl.edu 37 7 47842892 47842892 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 47842892 47842892 G A SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known silent c.7878 p.C2626 0.004 pfam_PKD1_2_channel pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 58 0 0 50 13 20.6349 FOXK1 0 genome.wustl.edu 37 7 4796712 4796712 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 4796712 4796712 C T SNP FOXK1 ENST00000328914 human ensembl 74_37 +1 known nonsense c.1138 p.R380* 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXK1 HGNC ENSG00000164916 95 0 0 91 6 6.18557 ABCA13 0 genome.wustl.edu 37 7 48280633 48280633 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 48280633 48280633 G A SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.1232 p.G411D 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 130 0 0 113 32 22.069 ABCA13 0 genome.wustl.edu 37 7 48318199 48318199 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 48318199 48318199 G A SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.7408 p.A2470T 0.005 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 146 0 0 141 46 24.5989 ABCA13 0 genome.wustl.edu 37 7 48413962 48413962 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 48413962 48413962 G A SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.11152 p.A3718T 0.991 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 29 0 0 16 8 33.3333 ABCA13 0 genome.wustl.edu 37 7 48450180 48450180 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 48450180 48450180 C T SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.12134 p.A4045V 0.995 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 95 0 0 95 11 10.3774 RADIL 0 genome.wustl.edu 37 7 4871777 4871777 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 4871777 4871777 C T SNP RADIL ENST00000399583 human ensembl 74_37 -1 known silent c.1449 p.A483 0.919 NULL pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors RADIL HGNC ENSG00000157927 19 0 0 11 4 26.6667 FIGNL1 0 genome.wustl.edu 37 7 50514928 50514928 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 50514928 50514928 C T SNP FIGNL1 ENST00000356889 human ensembl 74_37 -1 known missense c.58 p.A20T 0.978 NULL pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGNL1 HGNC ENSG00000132436 37 0 0 36 5 12.1951 DDC 0 genome.wustl.edu 37 7 50611704 50611704 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 50611704 50611704 C T SNP DDC ENST00000357936 human ensembl 74_37 -1 known missense c.80 p.R27H 0.998 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 132 0 0 93 30 24.3902 GRB10 0 genome.wustl.edu 37 7 50771543 50771543 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 50771543 50771543 C T SNP GRB10 ENST00000398812 human ensembl 74_37 -1 known silent c.114 p.Q38 0.000 NULL pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB10 HGNC ENSG00000106070 60 0 0 62 6 8.82353 RBAK 0 genome.wustl.edu 37 7 5097398 5097398 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 5097398 5097398 C T SNP RBAK ENST00000353796 human ensembl 74_37 +1 known nonsense c.226 p.Q76* 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 RBAK HGNC ENSG00000146587 102 0 0 83 25 23.1481 SLC29A4 0 genome.wustl.edu 37 7 5331433 5331433 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 5331433 5331433 C T SNP SLC29A4 ENST00000406453 human ensembl 74_37 +1 novel missense c.488 p.P163L 0.987 prints_Eqnu_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt - no_errors SLC29A4 HGNC ENSG00000164638 46 0 0 24 17 41.4634 EGFR 0 genome.wustl.edu 37 7 55214312 55214312 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 55214312 55214312 C T SNP EGFR ENST00000275493 human ensembl 74_37 +1 known silent c.438 p.G146 0.964 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EGFR HGNC ENSG00000146648 54 0 0 48 4 7.69231 EGFR 0 genome.wustl.edu 37 7 55220348 55220348 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 55220348 55220348 C T SNP EGFR ENST00000275493 human ensembl 74_37 +1 known silent c.738 p.S246 0.745 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EGFR HGNC ENSG00000146648 62 0 0 51 15 22.7273 EGFR 0 genome.wustl.edu 37 7 55221829 55221829 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 55221829 55221829 C T SNP EGFR ENST00000275493 human ensembl 74_37 +1 known silent c.873 p.C291 0.995 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EGFR HGNC ENSG00000146648 87 0 0 63 6 8.69565 EGFR 0 genome.wustl.edu 37 7 55242511 55242511 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 55242511 55242511 G A SNP EGFR ENST00000275493 human ensembl 74_37 +1 known missense c.2281 p.D761N 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EGFR HGNC ENSG00000146648 59 0 0 61 4 6.15385 FBXL18 0 genome.wustl.edu 37 7 5541130 5541130 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 5541130 5541130 C T SNP FBXL18 ENST00000453700 human ensembl 74_37 -1 known missense c.770 p.R257H 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXL18 HGNC ENSG00000155034 28 0 0 14 8 36.3636 LANCL2 0 genome.wustl.edu 37 7 55479775 55479775 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 55479775 55479775 C T SNP LANCL2 ENST00000254770 human ensembl 74_37 +1 known missense c.1001 p.A334V 1.000 pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like - no_errors LANCL2 HGNC ENSG00000132434 44 0 0 33 14 29.7872 ACTB 0 genome.wustl.edu 37 7 5568056 5568056 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 5568056 5568056 C T SNP ACTB ENST00000331789 human ensembl 74_37 -1 known missense c.658 p.A220T 0.999 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTB HGNC ENSG00000075624 114 0 0 72 28 28 FKBP9L 0 genome.wustl.edu 37 7 55755533 55755533 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 55755533 55755533 G A SNP FKBP9L ENST00000455909 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors FKBP9L HGNC ENSG00000176826 77 0 0 64 7 9.85915 CCT6A 0 genome.wustl.edu 37 7 56122107 56122107 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 56122107 56122107 G A SNP CCT6A ENST00000275603 human ensembl 74_37 +1 known missense c.247 p.A83T 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,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 129 0 0 99 27 21.4286 RNF216 0 genome.wustl.edu 37 7 5792588 5792588 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 5792588 5792588 C T SNP RNF216 ENST00000389902 human ensembl 74_37 -1 known silent c.90 p.G30 0.998 NULL smart_Znf_C6HC - no_errors RNF216 HGNC ENSG00000011275 63 0 0 47 11 18.9655 ENSG00000244550 0 genome.wustl.edu 37 7 62693510 62693510 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 62693510 62693510 C T SNP ENSG00000244550 ENST00000451381 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP5-905H7.3 Clone_based_vega_gene ENSG00000244550 22 0 0 17 5 22.7273 GUSB 0 genome.wustl.edu 37 7 65439577 65439577 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 65439577 65439577 G A SNP GUSB ENST00000304895 human ensembl 74_37 -1 known nonsense c.1180 p.Q394* 1.000 pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF 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 84 0 0 56 11 16.4179 ENSG00000230189 0 genome.wustl.edu 37 7 65894923 65894923 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 65894923 65894923 G A SNP ENSG00000230189 ENST00000442578 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GS1-124K5.2 Clone_based_vega_gene ENSG00000230189 38 0 0 47 6 11.3208 CCZ1B 0 genome.wustl.edu 37 7 6836263 6836263 + Splice_Site SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 6836263 6836263 C T SNP CCZ1B ENST00000597208 human ensembl 74_37 -1 putative splice_site c.NULL NULL 0.027 - - - no_errors CCZ1B HGNC ENSG00000146574 320 0 0 299 21 6.5625 AUTS2 0 genome.wustl.edu 37 7 70255333 70255333 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 70255333 70255333 G A SNP AUTS2 ENST00000342771 human ensembl 74_37 +1 known missense c.3131 p.R1044H 1.000 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 38 0 0 16 10 38.4615 WBSCR17 0 genome.wustl.edu 37 7 71142200 71142200 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 71142200 71142200 G A SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known missense c.1409 p.R470H 0.998 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 218 0 0 205 11 5.09259 POM121 0 genome.wustl.edu 37 7 72413409 72413409 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 72413409 72413409 G A SNP POM121 ENST00000434423 human ensembl 74_37 +1 known silent c.2877 p.P959 0.282 NULL NULL - no_errors POM121 HGNC ENSG00000196313 26 0 0 15 5 25 POM121 0 genome.wustl.edu 37 7 72413634 72413634 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 72413634 72413634 G A SNP POM121 ENST00000434423 human ensembl 74_37 +1 known silent c.3102 p.T1034 0.001 NULL NULL - no_errors POM121 HGNC ENSG00000196313 69 0 0 40 17 29.8246 NSUN5 0 genome.wustl.edu 37 7 72722781 72722781 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 72722781 72722781 G A SNP NSUN5 ENST00000438747 human ensembl 74_37 -1 known silent c.7 p.L3 0.160 NULL pfam_Fmu/NOL1/Nop2p,prints_RCMT - no_errors NSUN5 HGNC ENSG00000130305 37 0 0 19 5 20.8333 BAZ1B 0 genome.wustl.edu 37 7 72884801 72884801 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 72884801 72884801 C T SNP BAZ1B ENST00000339594 human ensembl 74_37 -1 known missense c.2606 p.R869H 0.983 superfamily_ARM-type_fold pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC ENSG00000009954 91 0 0 93 8 7.92079 BAZ1B 0 genome.wustl.edu 37 7 72891452 72891452 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 72891452 72891452 C T SNP BAZ1B ENST00000339594 human ensembl 74_37 -1 known missense c.2339 p.R780Q 1.000 superfamily_ARM-type_fold pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC ENSG00000009954 66 0 0 63 14 18.1818 TBL2 0 genome.wustl.edu 37 7 72987764 72987764 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 72987764 72987764 G A SNP TBL2 ENST00000305632 human ensembl 74_37 -1 known missense c.484 p.R162C 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TBL2 HGNC ENSG00000106638 62 0 0 56 5 8.19672 ELN 0 genome.wustl.edu 37 7 73474271 73474271 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 73474271 73474271 T C SNP ELN ENST00000358929 human ensembl 74_37 +1 known silent c.1575 p.G525 0.023 NULL prints_Tropoelastin - no_errors ELN HGNC ENSG00000049540 134 1 0.740741 78 33 29.7297 LAT2 0 genome.wustl.edu 37 7 73636001 73636001 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 73636001 73636001 C T SNP LAT2 ENST00000275635 human ensembl 74_37 +1 known missense c.367 p.R123W 0.001 NULL NULL - no_errors LAT2 HGNC ENSG00000086730 133 0 0 101 15 12.931 CLIP2 0 genome.wustl.edu 37 7 73753187 73753187 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 73753187 73753187 G A SNP CLIP2 ENST00000223398 human ensembl 74_37 +1 known silent c.531 p.T177 0.590 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 29 0 0 13 6 31.5789 POM121C 0 genome.wustl.edu 37 7 75068501 75068501 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 75068501 75068501 G A SNP POM121C ENST00000257665 human ensembl 74_37 -1 known missense c.955 p.R319C 1.000 NULL NULL - no_errors POM121C HGNC ENSG00000135213 178 0 0 139 45 24.4565 POR 0 genome.wustl.edu 37 7 75608862 75608862 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 75608862 75608862 C T SNP POR ENST00000461988 human ensembl 74_37 +1 known nonsense c.331 p.R111* 1.000 pfam_Flavodoxin/NO_synth,pfscan_Flavodoxin/NO_synth pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors POR HGNC ENSG00000127948 35 0 0 38 8 17.3913 MIOS 0 genome.wustl.edu 37 7 7636049 7636049 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 7636049 7636049 G A SNP MIOS ENST00000340080 human ensembl 74_37 +1 known silent c.2358 p.A786 0.818 NULL smart_WD40_repeat - no_errors MIOS HGNC ENSG00000164654 144 1 0.689655 151 10 6.21118 RSBN1L 0 genome.wustl.edu 37 7 77407902 77407902 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 77407902 77407902 G A SNP RSBN1L ENST00000334955 human ensembl 74_37 +1 known missense c.1958 p.R653H 1.000 NULL NULL - no_errors RSBN1L HGNC ENSG00000187257 155 0 0 103 37 26.4286 MAGI2 0 genome.wustl.edu 37 7 77824371 77824371 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 77824371 77824371 G A SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known nonsense c.2089 p.R697* 1.000 NULL pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI2 HGNC ENSG00000187391 47 0 0 28 3 9.67742 HEATR2 0 genome.wustl.edu 37 7 796464 796464 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 796464 796464 G A SNP HEATR2 ENST00000297440 human ensembl 74_37 +1 known missense c.1303 p.V435M 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors HEATR2 HGNC ENSG00000164818 124 0 0 89 23 20.5357 GNAT3 0 genome.wustl.edu 37 7 80088124 80088124 + Missense_Mutation SNP G G C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 80088124 80088124 G C SNP GNAT3 ENST00000398291 human ensembl 74_37 -1 known missense c.928 p.L310V 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAT3 HGNC ENSG00000214415 27 0 0 14 10 41.6667 ENSG00000227719 0 genome.wustl.edu 37 7 8153705 8153705 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 8153705 8153705 G A SNP ENSG00000227719 ENST00000449931 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC006042.6 Clone_based_vega_gene ENSG00000227719 66 0 0 42 13 23.6364 CACNA2D1 0 genome.wustl.edu 37 7 81588645 81588645 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 81588645 81588645 A G SNP CACNA2D1 ENST00000356253 human ensembl 74_37 -1 known silent c.3141 p.V1047 0.951 NULL pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC ENSG00000153956 65 0 0 62 5 7.46269 HEATR2 0 genome.wustl.edu 37 7 825235 825235 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 825235 825235 C T SNP HEATR2 ENST00000297440 human ensembl 74_37 +1 known missense c.2513 p.A838V 0.069 NULL pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors HEATR2 HGNC ENSG00000164818 41 0 0 31 9 22.5 PCLO 0 genome.wustl.edu 37 7 82581328 82581328 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 82581328 82581328 G A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.8941 p.P2981S 0.717 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 268 0 0 258 22 7.85714 SEMA3A 0 genome.wustl.edu 37 7 83590759 83590759 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 83590759 83590759 C A SNP SEMA3A ENST00000265362 human ensembl 74_37 -1 known missense c.2244 p.K748N 1.000 NULL pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3A HGNC ENSG00000075213 162 0 0 154 17 9.94152 GRM3 0 genome.wustl.edu 37 7 86415724 86415724 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 86415724 86415724 C T SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known missense c.616 p.R206C 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,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 79 0 0 56 5 8.19672 KIAA1324L 0 genome.wustl.edu 37 7 86542475 86542475 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 86542475 86542475 C T SNP KIAA1324L ENST00000450689 human ensembl 74_37 -1 known missense c.1777 p.A593T 1.000 superfamily_Growth_fac_rcpt_N_dom superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom - no_errors KIAA1324L HGNC ENSG00000164659 63 0 0 40 15 27.2727 CROT 0 genome.wustl.edu 37 7 87006753 87006753 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 87006753 87006753 G A SNP CROT ENST00000331536 human ensembl 74_37 +1 known missense c.965 p.G322D 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CROT HGNC ENSG00000005469 42 0 0 37 7 15.9091 ABCB1 0 genome.wustl.edu 37 7 87160729 87160729 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 87160729 87160729 G A SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known nonsense c.2566 p.Q856* 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 112 0 0 87 8 8.42105 DBF4 0 genome.wustl.edu 37 7 87533646 87533646 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 87533646 87533646 A G SNP DBF4 ENST00000265728 human ensembl 74_37 +1 known missense c.964 p.N322D 0.118 pfam_Znf_DBF,smart_Znf_DBF pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF - no_errors DBF4 HGNC ENSG00000006634 64 0 0 53 14 20.8955 SUN1 0 genome.wustl.edu 37 7 888056 888056 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 888056 888056 C T SNP SUN1 ENST00000456758 human ensembl 74_37 +1 known silent c.834 p.C278 1.000 pfam_SUN1 pfam_SUN1,pfam_Sad1_UNC_C - no_errors SUN1 HGNC ENSG00000164828 156 0 0 103 39 27.4648 CDK14 0 genome.wustl.edu 37 7 90747451 90747451 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 90747451 90747451 A G SNP CDK14 ENST00000380050 human ensembl 74_37 +1 known missense c.1366 p.K456E 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 CDK14 HGNC ENSG00000058091 120 0 0 74 27 26.7327 MTERF 0 genome.wustl.edu 37 7 91503707 91503707 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 91503707 91503707 C T SNP MTERF ENST00000351870 human ensembl 74_37 -1 known missense c.401 p.R134H 1.000 pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERF HGNC ENSG00000127989 186 0 0 147 41 21.8085 AKAP9 0 genome.wustl.edu 37 7 91652318 91652318 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 91652318 91652318 G A SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known silent c.4179 p.P1393 0.017 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 78 0 0 85 23 21.2963 AKAP9 0 genome.wustl.edu 37 7 91718798 91718798 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 91718798 91718798 A G SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.9325 p.K3109E 0.922 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 47 0 0 90 6 6.25 AKAP9 0 genome.wustl.edu 37 7 91737871 91737871 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 91737871 91737871 C T SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known silent c.11622 p.Y3874 0.902 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 101 0 0 75 5 6.25 ERVW-1 0 genome.wustl.edu 37 7 92099158 92099158 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 92099158 92099158 C T SNP ERVW-1 ENST00000493463 human ensembl 74_37 -1 known missense c.538 p.A180T 0.537 pfam_TLV/ENV_coat_polyprotein pfam_TLV/ENV_coat_polyprotein - no_errors ERVW-1 HGNC ENSG00000242950 49 0 0 35 4 10.2564 ERVW-1 0 genome.wustl.edu 37 7 92099550 92099550 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 92099550 92099550 G A SNP ERVW-1 ENST00000493463 human ensembl 74_37 -1 known missense c.146 p.A49V 0.095 NULL pfam_TLV/ENV_coat_polyprotein - no_errors ERVW-1 HGNC ENSG00000242950 102 0 0 105 14 11.7647 SAMD9 0 genome.wustl.edu 37 7 92732197 92732197 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 92732197 92732197 G A SNP SAMD9 ENST00000379958 human ensembl 74_37 -1 known missense c.3214 p.L1072F 0.003 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 67 0 0 72 11 13.253 HEPACAM2 0 genome.wustl.edu 37 7 92848701 92848701 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 92848701 92848701 G A SNP HEPACAM2 ENST00000394468 human ensembl 74_37 -1 known missense c.143 p.A48V 1.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors HEPACAM2 HGNC ENSG00000188175 96 0 0 86 27 23.8938 TFPI2 0 genome.wustl.edu 37 7 93519977 93519977 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 93519977 93519977 C T SNP TFPI2 ENST00000222543 human ensembl 74_37 -1 known missense c.14 p.R5H 0.000 pirsf_Prot_inhib_I2_TFPI pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors TFPI2 HGNC ENSG00000105825 20 0 0 11 6 35.2941 COL1A2 0 genome.wustl.edu 37 7 94057646 94057646 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 94057646 94057646 G A SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known missense c.3568 p.A1190T 1.000 pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 191 0 0 133 40 23.1214 ASB4 0 genome.wustl.edu 37 7 95157128 95157128 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 95157128 95157128 C T SNP ASB4 ENST00000325885 human ensembl 74_37 +1 known missense c.491 p.A164V 0.999 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB4 HGNC ENSG00000005981 40 0 0 27 8 22.8571 ASB4 0 genome.wustl.edu 37 7 95157168 95157168 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 95157168 95157168 G A SNP ASB4 ENST00000325885 human ensembl 74_37 +1 known silent c.531 p.T177 0.180 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB4 HGNC ENSG00000005981 42 0 0 29 5 14.7059 TECPR1 0 genome.wustl.edu 37 7 97850998 97850998 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 97850998 97850998 C T SNP TECPR1 ENST00000379795 human ensembl 74_37 -1 known silent c.3138 p.T1046 0.421 superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin - no_errors TECPR1 HGNC ENSG00000205356 51 0 0 27 13 32.5 NPTX2 0 genome.wustl.edu 37 7 98254261 98254261 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 98254261 98254261 C T SNP NPTX2 ENST00000265634 human ensembl 74_37 +1 known missense c.671 p.A224V 0.987 superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTX2 HGNC ENSG00000106236 253 0 0 158 47 22.9268 TRRAP 0 genome.wustl.edu 37 7 98478778 98478778 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 98478778 98478778 C T SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.5 p.A2V 1.000 NULL pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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 TRRAP HGNC ENSG00000196367 73 0 0 64 6 8.57143 TRRAP 0 genome.wustl.edu 37 7 98519385 98519385 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 98519385 98519385 C T SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.2632 p.R878C 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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 TRRAP HGNC ENSG00000196367 114 0 0 105 6 5.40541 TRRAP 0 genome.wustl.edu 37 7 98522829 98522829 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 98522829 98522829 C T SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.2918 p.A973V 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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 TRRAP HGNC ENSG00000196367 95 0 0 91 23 20.1754 TRRAP 0 genome.wustl.edu 37 7 98528370 98528370 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 98528370 98528370 C T SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.3508 p.R1170W 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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 TRRAP HGNC ENSG00000196367 57 0 0 52 6 10.3448 SMURF1 0 genome.wustl.edu 37 7 98655043 98655043 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 98655043 98655043 C T SNP SMURF1 ENST00000361125 human ensembl 74_37 -1 known missense c.335 p.G112E 1.000 superfamily_C2_dom,smart_C2_dom 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 SMURF1 HGNC ENSG00000198742 62 0 0 67 8 10.6667 AZGP1P1 0 genome.wustl.edu 37 7 99581003 99581003 + RNA SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 99581003 99581003 A G SNP AZGP1P1 ENST00000425474 human ensembl 74_37 +1 known rna NULL NULL 0.912 - - - no_errors AZGP1P1 HGNC ENSG00000214313 54 0 0 49 4 7.54717 ZSCAN21 0 genome.wustl.edu 37 7 99662020 99662020 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 99662020 99662020 C T SNP ZSCAN21 ENST00000292450 human ensembl 74_37 +1 known missense c.1202 p.A401V 0.859 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN21 HGNC ENSG00000166529 112 0 0 97 10 9.34579 STAG3 0 genome.wustl.edu 37 7 99808640 99808640 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 99808640 99808640 C T SNP STAG3 ENST00000317296 human ensembl 74_37 +1 known missense c.3245 p.A1082V 0.011 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG3 HGNC ENSG00000066923 53 0 0 46 15 24.5902 PILRB 0 genome.wustl.edu 37 7 99950995 99950995 + Splice_Site SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 99950995 99950995 G T SNP PILRB ENST00000610247 human ensembl 74_37 +1 known splice_site c.1-1 e1-1 0.238 - - - no_errors PILRB HGNC ENSG00000121716 47 0 0 32 4 11.1111 VPS13B 0 genome.wustl.edu 37 8 100866085 100866085 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 100866085 100866085 A G SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.10543 p.I3515V 0.001 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 169 0 0 135 33 19.6429 RGS22 0 genome.wustl.edu 37 8 101018332 101018332 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 101018332 101018332 C T SNP RGS22 ENST00000360863 human ensembl 74_37 -1 known silent c.2367 p.E789 0.996 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 47 0 0 33 20 37.7358 FBXO43 0 genome.wustl.edu 37 8 101153265 101153265 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 101153265 101153265 T C SNP FBXO43 ENST00000428847 human ensembl 74_37 -1 known missense c.1217 p.D406G 0.000 NULL pfam_Znf_C6HC,superfamily_F-box_dom,smart_Znf_C6HC - no_errors FBXO43 HGNC ENSG00000156509 95 0 0 106 12 10.1695 SPAG1 0 genome.wustl.edu 37 8 101232554 101232554 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 101232554 101232554 C T SNP SPAG1 ENST00000251809 human ensembl 74_37 +1 known missense c.1583 p.A528V 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SPAG1 HGNC ENSG00000104450 112 1 0.884956 98 25 20.3252 RNF19A 0 genome.wustl.edu 37 8 101271043 101271043 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 101271043 101271043 C T SNP RNF19A ENST00000341084 human ensembl 74_37 -1 known missense c.2258 p.R753H 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19A HGNC ENSG00000034677 101 0 0 111 6 5.12821 RNF19A 0 genome.wustl.edu 37 8 101277003 101277003 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 101277003 101277003 C T SNP RNF19A ENST00000341084 human ensembl 74_37 -1 known missense c.1202 p.R401H 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19A HGNC ENSG00000034677 135 0 0 115 26 18.4397 NCALD 0 genome.wustl.edu 37 8 102731525 102731525 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 102731525 102731525 G A SNP NCALD ENST00000311028 human ensembl 74_37 -1 known silent c.333 p.D111 0.579 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors NCALD HGNC ENSG00000104490 140 0 0 122 24 16.4384 NCALD 0 genome.wustl.edu 37 8 102731596 102731596 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 102731596 102731596 C T SNP NCALD ENST00000311028 human ensembl 74_37 -1 known missense c.262 p.A88T 1.000 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors NCALD HGNC ENSG00000104490 190 0 0 202 12 5.60748 FZD6 0 genome.wustl.edu 37 8 104340603 104340603 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 104340603 104340603 C T SNP FZD6 ENST00000358755 human ensembl 74_37 +1 known silent c.1500 p.C500 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 FZD6 HGNC ENSG00000164930 83 0 0 68 11 13.9241 CTHRC1 0 genome.wustl.edu 37 8 104390323 104390323 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 104390323 104390323 A G SNP CTHRC1 ENST00000330295 human ensembl 74_37 +1 known silent c.441 p.L147 0.995 NULL pfam_Collagen - no_errors CTHRC1 HGNC ENSG00000164932 135 0 0 108 21 16.2791 RP1L1 0 genome.wustl.edu 37 8 10464545 10464545 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 10464545 10464545 C T SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.7063 p.A2355T 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 119 0 0 89 27 23.2759 RP1L1 0 genome.wustl.edu 37 8 10480258 10480258 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 10480258 10480258 G A SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.454 p.R152W 0.987 smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 105 1 0.943396 90 17 15.8879 RP1L1 0 genome.wustl.edu 37 8 10480525 10480525 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 10480525 10480525 C T SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.187 p.A63T 0.976 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 19 0 0 24 4 14.2857 LRP12 0 genome.wustl.edu 37 8 105509882 105509882 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 105509882 105509882 G A SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.841 p.R281C 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 74 0 0 62 11 15.0685 ANGPT1 0 genome.wustl.edu 37 8 108264151 108264151 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 108264151 108264151 G A SNP ANGPT1 ENST00000517746 human ensembl 74_37 -1 known missense c.1429 p.H477Y 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT1 HGNC ENSG00000154188 191 0 0 150 31 17.1271 ANGPT1 0 genome.wustl.edu 37 8 108296925 108296925 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 108296925 108296925 T C SNP ANGPT1 ENST00000517746 human ensembl 74_37 -1 known missense c.1190 p.E397G 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT1 HGNC ENSG00000154188 66 0 0 75 8 9.63855 RSPO2 0 genome.wustl.edu 37 8 108972962 108972962 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 108972962 108972962 G A SNP RSPO2 ENST00000276659 human ensembl 74_37 -1 known missense c.367 p.R123C 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors RSPO2 HGNC ENSG00000147655 69 0 0 66 14 17.5 MTMR9 0 genome.wustl.edu 37 8 11180276 11180276 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 11180276 11180276 C T SNP MTMR9 ENST00000221086 human ensembl 74_37 +1 known silent c.1629 p.D543 0.003 NULL pfam_Myotubularin-like_Pase_dom - no_errors MTMR9 HGNC ENSG00000104643 58 0 0 61 12 16.4384 SLC35G5 0 genome.wustl.edu 37 8 11188883 11188883 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 11188883 11188883 C T SNP SLC35G5 ENST00000382435 human ensembl 74_37 +1 known missense c.268 p.R90C 0.827 pfam_DMT pfam_DMT - no_errors SLC35G5 HGNC ENSG00000177710 210 0 0 153 37 19.4737 FAM167A 0 genome.wustl.edu 37 8 11301681 11301681 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 11301681 11301681 C T SNP FAM167A ENST00000284486 human ensembl 74_37 -1 known silent c.240 p.E80 0.002 NULL pfam_FAM167 - no_errors FAM167A HGNC ENSG00000154319 19 0 0 15 4 21.0526 CSMD3 0 genome.wustl.edu 37 8 113293565 113293565 + Missense_Mutation SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 113293565 113293565 T A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.9346 p.N3116Y 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 CSMD3 HGNC ENSG00000164796 61 0 0 57 13 18.5714 CSMD3 0 genome.wustl.edu 37 8 113299389 113299389 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 113299389 113299389 G A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.9235 p.R3079C 0.998 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 CSMD3 HGNC ENSG00000164796 91 0 0 104 9 7.9646 CSMD3 0 genome.wustl.edu 37 8 113966981 113966981 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 113966981 113966981 G A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.1352 p.A451V 1.000 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 27 0 0 18 7 28 GATA4 0 genome.wustl.edu 37 8 11615827 11615827 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 11615827 11615827 G A SNP GATA4 ENST00000335135 human ensembl 74_37 +1 known missense c.1172 p.G391D 1.000 pirsf_TF_GATA_4/5/6 pfam_GATA_N,pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA_4/5/6,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA4 HGNC ENSG00000136574 125 0 0 81 23 22.1154 TRPS1 0 genome.wustl.edu 37 8 116632282 116632282 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 116632282 116632282 C T SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.43 p.V15I 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 50 0 0 27 16 37.2093 USP17L2 0 genome.wustl.edu 37 8 11996191 11996191 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 11996191 11996191 C T SNP USP17L2 ENST00000333796 human ensembl 74_37 -1 known missense c.79 p.A27T 0.053 NULL pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67 - no_errors USP17L2 HGNC ENSG00000223443 104 0 0 89 10 10.101 DEPTOR 0 genome.wustl.edu 37 8 121013832 121013832 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 121013832 121013832 C T SNP DEPTOR ENST00000286234 human ensembl 74_37 +1 known nonsense c.673 p.R225* 1.000 NULL pfam_DEP_dom,superfamily_PDZ,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ - no_errors DEPTOR HGNC ENSG00000155792 61 0 0 47 11 18.9655 COL14A1 0 genome.wustl.edu 37 8 121228677 121228677 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 121228677 121228677 T C SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known missense c.1685 p.I562T 0.084 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 105 0 0 108 7 6.08696 COL14A1 0 genome.wustl.edu 37 8 121259909 121259909 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 121259909 121259909 G A SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known missense c.2537 p.R846H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 90 0 0 49 16 24.6154 HAS2 0 genome.wustl.edu 37 8 122641065 122641065 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 122641065 122641065 C T SNP HAS2 ENST00000303924 human ensembl 74_37 -1 known silent c.516 p.T172 0.992 NULL pfam_Chitin_synth_fng - no_errors HAS2 HGNC ENSG00000170961 332 0 0 298 53 15.0997 ZHX2 0 genome.wustl.edu 37 8 123964440 123964440 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 123964440 123964440 C T SNP ZHX2 ENST00000314393 human ensembl 74_37 +1 known silent c.690 p.G230 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZHX2 HGNC ENSG00000178764 111 0 0 137 8 5.51724 WDYHV1 0 genome.wustl.edu 37 8 124453601 124453601 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 124453601 124453601 C T SNP WDYHV1 ENST00000287387 human ensembl 74_37 +1 known silent c.564 p.G188 0.982 pfam_Prot_N_Gln_amidohydro_ab_roll pfam_Prot_N_Gln_amidohydro_ab_roll - no_errors WDYHV1 HGNC ENSG00000156795 23 0 0 21 6 22.2222 NDUFB9 0 genome.wustl.edu 37 8 125555399 125555399 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 125555399 125555399 C T SNP NDUFB9 ENST00000276689 human ensembl 74_37 +1 known missense c.173 p.A58V 1.000 pfam_Complex1_LYR pfam_Complex1_LYR - no_errors NDUFB9 HGNC ENSG00000147684 85 0 0 71 10 12.3457 MTSS1 0 genome.wustl.edu 37 8 125565387 125565387 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 125565387 125565387 G A SNP MTSS1 ENST00000518547 human ensembl 74_37 -1 known missense c.2114 p.A705V 0.509 NULL pfam_IRSp53/MIM_homology_IMD,pfscan_WH2_dom - no_errors MTSS1 HGNC ENSG00000170873 261 0 0 216 17 7.29614 MTSS1 0 genome.wustl.edu 37 8 125568594 125568594 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 125568594 125568594 C T SNP MTSS1 ENST00000518547 human ensembl 74_37 -1 known missense c.1283 p.R428H 1.000 NULL pfam_IRSp53/MIM_homology_IMD,pfscan_WH2_dom - no_errors MTSS1 HGNC ENSG00000170873 28 0 0 13 3 18.75 SQLE 0 genome.wustl.edu 37 8 126021249 126021249 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 126021249 126021249 C T SNP SQLE ENST00000265896 human ensembl 74_37 +1 known missense c.859 p.L287F 0.998 pfam_Squalene_epoxidase,pfam_mOase_FAD-bd,prints_Rng_hydrolase-like pfam_Squalene_epoxidase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_Rng_hydrolase-like - no_errors SQLE HGNC ENSG00000104549 31 0 0 24 5 17.2414 KIAA0196 0 genome.wustl.edu 37 8 126040911 126040911 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 126040911 126040911 G A SNP KIAA0196 ENST00000318410 human ensembl 74_37 -1 known missense c.3374 p.A1125V 1.000 NULL pfam_WASH_strumpellin,superfamily_Ig_E-set - no_errors KIAA0196 HGNC ENSG00000164961 62 0 0 79 5 5.95238 ENSG00000253427 0 genome.wustl.edu 37 8 127504692 127504692 + RNA SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 127504692 127504692 A G SNP ENSG00000253427 ENST00000520171 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-103H7.1 Clone_based_vega_gene ENSG00000253427 68 0 0 46 9 16.3636 GSDMC 0 genome.wustl.edu 37 8 130789633 130789633 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 130789633 130789633 C A SNP GSDMC ENST00000276708 human ensembl 74_37 -1 known missense c.201 p.E67D 0.152 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMC HGNC ENSG00000147697 72 0 0 54 16 22.8571 ASAP1 0 genome.wustl.edu 37 8 131070228 131070228 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 131070228 131070228 A G SNP ASAP1 ENST00000357668 human ensembl 74_37 -1 known missense c.3287 p.V1096A 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox 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 162 0 0 126 7 5.26316 ASAP1 0 genome.wustl.edu 37 8 131092151 131092151 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 131092151 131092151 G A SNP ASAP1 ENST00000357668 human ensembl 74_37 -1 known missense c.2639 p.S880L 0.902 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 289 0 0 226 62 21.5278 EFR3A 0 genome.wustl.edu 37 8 133014887 133014887 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 133014887 133014887 G A SNP EFR3A ENST00000254624 human ensembl 74_37 +1 known silent c.2244 p.R748 0.999 NULL superfamily_ARM-type_fold - no_errors EFR3A HGNC ENSG00000132294 94 0 0 81 12 12.9032 PHF20L1 0 genome.wustl.edu 37 8 133806768 133806768 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 133806768 133806768 C T SNP PHF20L1 ENST00000486199 human ensembl 74_37 +1 known nonsense c.196 p.R66* 0.995 smart_Tudor,smart_Tudor-like_plant pfam_DUF3776,smart_Tudor,smart_Tudor-like_plant - no_errors PHF20L1 HGNC ENSG00000129292 128 0 0 144 9 5.88235 PHF20L1 0 genome.wustl.edu 37 8 133829268 133829268 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 133829268 133829268 G A SNP PHF20L1 ENST00000395386 human ensembl 74_37 +1 putative missense c.1319 p.G440E 1.000 pfam_DUF3776 pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Tudor-like_plant - no_errors PHF20L1 HGNC ENSG00000129292 63 0 0 52 10 16.129 PHF20L1 0 genome.wustl.edu 37 8 133848857 133848857 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 133848857 133848857 A G SNP PHF20L1 ENST00000220847 human ensembl 74_37 +1 known missense c.143 p.Q48R 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD - no_errors PHF20L1 HGNC ENSG00000129292 80 0 0 99 6 5.71429 TG 0 genome.wustl.edu 37 8 133898950 133898950 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 133898950 133898950 C T SNP TG ENST00000220616 human ensembl 74_37 +1 known nonsense c.1333 p.R445* 0.000 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 122 1 0.813008 120 21 14.8936 TG 0 genome.wustl.edu 37 8 133931753 133931753 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 133931753 133931753 C A SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.4511 p.A1504D 1.000 pfam_Tyr-kin_ephrin_A/B_rcpt-like,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 96 0 0 99 6 5.71429 TG 0 genome.wustl.edu 37 8 133961096 133961096 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 133961096 133961096 A G SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.5309 p.E1770G 0.000 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 126 0 0 105 25 19.2308 WISP1 0 genome.wustl.edu 37 8 134232921 134232921 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 134232921 134232921 C T SNP WISP1 ENST00000250160 human ensembl 74_37 +1 known silent c.447 p.G149 0.977 pfam_VWF_C,smart_VWF_C,pirsf_IGFBP_CNN,pfscan_VWF_C pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP1 HGNC ENSG00000104415 45 0 0 32 7 17.9487 WISP1 0 genome.wustl.edu 37 8 134237815 134237815 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 134237815 134237815 A G SNP WISP1 ENST00000250160 human ensembl 74_37 +1 known missense c.793 p.T265A 0.000 pirsf_IGFBP_CNN pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP1 HGNC ENSG00000104415 50 0 0 32 22 40.7407 NDRG1 0 genome.wustl.edu 37 8 134276800 134276800 + Silent SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 134276800 134276800 G T SNP NDRG1 ENST00000323851 human ensembl 74_37 -1 known silent c.195 p.I65 0.978 pfam_Ndr pfam_Ndr - no_errors NDRG1 HGNC ENSG00000104419 74 0 0 63 11 14.8649 ZFAT 0 genome.wustl.edu 37 8 135524778 135524778 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 135524778 135524778 C T SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known missense c.3301 p.V1101I 0.260 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 171 0 0 135 31 18.6747 ZFAT 0 genome.wustl.edu 37 8 135614866 135614866 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 135614866 135614866 C T SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known missense c.1096 p.V366I 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 82 0 0 73 17 18.8889 COL22A1 0 genome.wustl.edu 37 8 139668154 139668154 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 139668154 139668154 T C SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known missense c.3319 p.N1107D 1.000 NULL pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 264 0 0 246 13 5.01931 COL22A1 0 genome.wustl.edu 37 8 139696666 139696666 + Splice_Site SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 139696666 139696666 A G SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known splice_site c.3012+2 e38+2 0.918 - - - no_errors COL22A1 HGNC ENSG00000169436 178 0 0 127 30 19.1083 COL22A1 0 genome.wustl.edu 37 8 139833507 139833507 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 139833507 139833507 C T SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known missense c.1117 p.A373T 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 67 0 0 60 19 24.0506 TRAPPC9 0 genome.wustl.edu 37 8 141321405 141321405 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 141321405 141321405 C T SNP TRAPPC9 ENST00000389328 human ensembl 74_37 -1 known missense c.1858 p.A620T 0.997 NULL pfam_TRAPP_II_complex_Trs120 - no_errors TRAPPC9 HGNC ENSG00000167632 50 0 0 36 14 28 AGO2 0 genome.wustl.edu 37 8 141542749 141542749 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 141542749 141542749 G A SNP AGO2 ENST00000520628 human ensembl 74_37 -1 putative rna NULL NULL 0.001 - - - no_errors AGO2 HGNC ENSG00000123908 25 0 0 17 5 22.7273 AGO2 0 genome.wustl.edu 37 8 141570572 141570572 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 141570572 141570572 C T SNP AGO2 ENST00000220592 human ensembl 74_37 -1 known missense c.556 p.E186K 1.000 pfam_DUF1785,superfamily_PAZ_dom pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO2 HGNC ENSG00000123908 42 0 0 50 10 16.6667 PTP4A3 0 genome.wustl.edu 37 8 142432393 142432393 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 142432393 142432393 G A SNP PTP4A3 ENST00000329397 human ensembl 74_37 +1 known missense c.53 p.R18H 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors PTP4A3 HGNC ENSG00000184489 90 0 0 88 14 13.7255 TSNARE1 0 genome.wustl.edu 37 8 143396392 143396392 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 143396392 143396392 G A SNP TSNARE1 ENST00000307180 human ensembl 74_37 -1 known missense c.1046 p.A349V 0.009 superfamily_t-SNARE,smart_Syntaxin_N pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors TSNARE1 HGNC ENSG00000171045 60 0 0 59 6 9.23077 GLI4 0 genome.wustl.edu 37 8 144358659 144358659 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 144358659 144358659 C T SNP GLI4 ENST00000340042 human ensembl 74_37 +1 known silent c.816 p.C272 0.999 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI4 HGNC ENSG00000250571 62 0 0 46 10 17.8571 EPPK1 0 genome.wustl.edu 37 8 144945091 144945091 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 144945091 144945091 C T SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known silent c.2331 p.T777 0.041 smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 90 0 0 85 6 6.59341 PLEC 0 genome.wustl.edu 37 8 144993246 144993246 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 144993246 144993246 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known silent c.11154 p.G3718 0.001 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 74 0 0 54 10 15.625 PARP10 0 genome.wustl.edu 37 8 145059646 145059646 + Missense_Mutation SNP G G C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 145059646 145059646 G C SNP PARP10 ENST00000313028 human ensembl 74_37 -1 known missense c.607 p.P203A 0.111 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP10 HGNC ENSG00000178685 17 0 0 13 4 23.5294 MAF1 0 genome.wustl.edu 37 8 145161285 145161285 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 145161285 145161285 C T SNP MAF1 ENST00000322428 human ensembl 74_37 +1 known missense c.418 p.R140W 0.928 pfam_Maf1,pirsf_Maf1 pfam_Maf1,pirsf_Maf1 - no_errors MAF1 HGNC ENSG00000179632 47 0 0 28 6 17.6471 TONSL 0 genome.wustl.edu 37 8 145665463 145665463 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 145665463 145665463 G A SNP TONSL ENST00000409379 human ensembl 74_37 -1 known missense c.1421 p.A474V 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 22 0 0 23 4 14.8148 RECQL4 0 genome.wustl.edu 37 8 145739054 145739054 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 145739054 145739054 C T SNP RECQL4 ENST00000428558 human ensembl 74_37 -1 known missense c.2101 p.D701N 0.999 superfamily_P-loop_NTPase,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DNA_rep_checkpnt_protein,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL4 HGNC ENSG00000160957 8 0 0 6 5 45.4545 ARHGAP39 0 genome.wustl.edu 37 8 145770858 145770858 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 145770858 145770858 C T SNP ARHGAP39 ENST00000377307 human ensembl 74_37 -1 known missense c.2296 p.V766M 0.997 pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_dom,smart_WW_dom,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP39 HGNC ENSG00000147799 30 0 0 31 5 13.8889 DLGAP2 0 genome.wustl.edu 37 8 1497706 1497706 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 1497706 1497706 G A SNP DLGAP2 ENST00000421627 human ensembl 74_37 +1 known missense c.847 p.A283T 0.087 NULL pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 28 0 0 23 4 14.8148 TUSC3 0 genome.wustl.edu 37 8 15508247 15508247 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 15508247 15508247 G A SNP TUSC3 ENST00000503731 human ensembl 74_37 +1 known missense c.350 p.R117H 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TUSC3 HGNC ENSG00000104723 198 0 0 180 13 6.73575 CNOT7 0 genome.wustl.edu 37 8 17092325 17092325 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 17092325 17092325 T C SNP CNOT7 ENST00000361272 human ensembl 74_37 -1 known missense c.518 p.N173S 1.000 pfam_RNase_CAF1,superfamily_RNaseH-like_dom pfam_RNase_CAF1,superfamily_RNaseH-like_dom - no_errors CNOT7 HGNC ENSG00000198791 105 0 0 87 9 9.375 PCM1 0 genome.wustl.edu 37 8 17824576 17824576 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 17824576 17824576 G A SNP PCM1 ENST00000325083 human ensembl 74_37 +1 known silent c.3309 p.S1103 0.985 NULL NULL - no_errors PCM1 HGNC ENSG00000078674 23 0 0 21 6 22.2222 ARHGEF10 0 genome.wustl.edu 37 8 1814720 1814720 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 1814720 1814720 G A SNP ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known missense c.649 p.A217T 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 47 0 0 46 4 8 ARHGEF10 0 genome.wustl.edu 37 8 1817418 1817418 + Splice_Site SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 1817418 1817418 T C SNP ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known splice_site c.754+2 e7+2 1.000 - - - no_errors ARHGEF10 HGNC ENSG00000104728 63 0 0 62 11 15.0685 PSD3 0 genome.wustl.edu 37 8 18725364 18725364 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 18725364 18725364 C T SNP PSD3 ENST00000440756 human ensembl 74_37 -1 known missense c.1454 p.R485H 1.000 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors PSD3 HGNC ENSG00000156011 171 0 0 148 30 16.8539 CSGALNACT1 0 genome.wustl.edu 37 8 19263549 19263549 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 19263549 19263549 G A SNP CSGALNACT1 ENST00000311540 human ensembl 74_37 -1 known silent c.1341 p.G447 0.015 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CSGALNACT1 HGNC ENSG00000147408 106 0 0 106 6 5.35714 CSGALNACT1 0 genome.wustl.edu 37 8 19362852 19362852 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 19362852 19362852 C T SNP CSGALNACT1 ENST00000311540 human ensembl 74_37 -1 known missense c.494 p.R165H 1.000 NULL pfam_Chond_GalNAc - no_errors CSGALNACT1 HGNC ENSG00000147408 44 0 0 29 11 27.5 SLC18A1 0 genome.wustl.edu 37 8 20008198 20008198 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 20008198 20008198 A G SNP SLC18A1 ENST00000276373 human ensembl 74_37 -1 known missense c.1073 p.V358A 0.006 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Multidrug-R - no_errors SLC18A1 HGNC ENSG00000036565 193 0 0 120 25 17.2414 LZTS1 0 genome.wustl.edu 37 8 20107710 20107710 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 20107710 20107710 G A SNP LZTS1 ENST00000265801 human ensembl 74_37 -1 known silent c.1314 p.G438 0.069 NULL NULL - no_errors LZTS1 HGNC ENSG00000061337 76 0 0 64 14 17.9487 HR 0 genome.wustl.edu 37 8 21986447 21986447 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 21986447 21986447 C A SNP HR ENST00000381418 human ensembl 74_37 -1 known missense c.237 p.E79D 0.854 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HR HGNC ENSG00000168453 44 0 0 26 9 25.7143 BMP1 0 genome.wustl.edu 37 8 22053019 22053019 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 22053019 22053019 C T SNP BMP1 ENST00000306385 human ensembl 74_37 +1 known missense c.1684 p.R562W 1.000 pirsf_BMP_1/tolloid-like,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors BMP1 HGNC ENSG00000168487 32 0 0 27 6 18.1818 ENTPD4 0 genome.wustl.edu 37 8 23294525 23294525 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 23294525 23294525 G A SNP ENTPD4 ENST00000358689 human ensembl 74_37 -1 known silent c.1296 p.S432 0.247 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD4 HGNC ENSG00000197217 109 1 0.909091 85 11 11.4583 ENTPD4 0 genome.wustl.edu 37 8 23299095 23299095 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 23299095 23299095 G A SNP ENTPD4 ENST00000358689 human ensembl 74_37 -1 known missense c.869 p.A290V 1.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD4 HGNC ENSG00000197217 133 1 0.746269 64 48 42.8571 STC1 0 genome.wustl.edu 37 8 23702305 23702305 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 23702305 23702305 C T SNP STC1 ENST00000290271 human ensembl 74_37 -1 known missense c.722 p.R241H 1.000 NULL pfam_Stanniocalcin - no_errors STC1 HGNC ENSG00000159167 53 0 0 47 8 14.5455 ADAM28 0 genome.wustl.edu 37 8 24211298 24211298 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 24211298 24211298 G A SNP ADAM28 ENST00000265769 human ensembl 74_37 +1 known missense c.2260 p.A754T 0.004 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 ADAM28 HGNC ENSG00000042980 185 0 0 155 20 11.4286 NEFM 0 genome.wustl.edu 37 8 24771638 24771638 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 24771638 24771638 G A SNP NEFM ENST00000221166 human ensembl 74_37 +1 known missense c.332 p.R111H 1.000 pfam_IF pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 25 0 0 19 11 36.6667 NEFM 0 genome.wustl.edu 37 8 24771747 24771747 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 24771747 24771747 C T SNP NEFM ENST00000221166 human ensembl 74_37 +1 known silent c.441 p.G147 0.999 pfam_IF pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 15 0 0 5 5 50 DOCK5 0 genome.wustl.edu 37 8 25209257 25209257 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 25209257 25209257 C T SNP DOCK5 ENST00000276440 human ensembl 74_37 +1 known missense c.2765 p.A922V 0.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 37 0 0 23 5 17.8571 EBF2 0 genome.wustl.edu 37 8 25708132 25708132 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 25708132 25708132 G A SNP EBF2 ENST00000520164 human ensembl 74_37 -1 known silent c.1674 p.S558 0.998 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF2 HGNC ENSG00000221818 88 0 0 62 17 21.519 ADRA1A 0 genome.wustl.edu 37 8 26722237 26722237 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 26722237 26722237 C T SNP ADRA1A ENST00000380586 human ensembl 74_37 -1 known missense c.250 p.A84T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADR_fam pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA1A HGNC ENSG00000120907 157 0 0 106 26 19.697 ADRA1A 0 genome.wustl.edu 37 8 26722276 26722276 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 26722276 26722276 C T SNP ADRA1A ENST00000380586 human ensembl 74_37 -1 known missense c.211 p.A71T 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_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA1A HGNC ENSG00000120907 206 1 0.483092 144 30 17.2414 NUGGC 0 genome.wustl.edu 37 8 27922179 27922179 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 27922179 27922179 C T SNP NUGGC ENST00000341513 human ensembl 74_37 -1 known missense c.781 p.A261T 0.000 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors NUGGC HGNC ENSG00000189233 53 0 0 39 5 11.3636 ZNF395 0 genome.wustl.edu 37 8 28214286 28214286 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 28214286 28214286 C T SNP ZNF395 ENST00000344423 human ensembl 74_37 -1 known missense c.484 p.A162T 0.977 NULL pfscan_Znf_C2H2 - no_errors ZNF395 HGNC ENSG00000186918 28 0 0 14 4 22.2222 FZD3 0 genome.wustl.edu 37 8 28385115 28385115 + Nonsense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 28385115 28385115 G T SNP FZD3 ENST00000240093 human ensembl 74_37 +1 known nonsense c.838 p.G280* 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 FZD3 HGNC ENSG00000104290 132 1 0.75188 130 8 5.7971 FZD3 0 genome.wustl.edu 37 8 28385354 28385354 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 28385354 28385354 C T SNP FZD3 ENST00000240093 human ensembl 74_37 +1 known silent c.1077 p.G359 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 FZD3 HGNC ENSG00000104290 98 0 0 86 6 6.52174 EXTL3 0 genome.wustl.edu 37 8 28575031 28575031 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 28575031 28575031 G A SNP EXTL3 ENST00000220562 human ensembl 74_37 +1 known silent c.1455 p.V485 1.000 pfam_Exostosin pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL3 HGNC ENSG00000012232 45 0 0 50 8 13.7931 EXTL3 0 genome.wustl.edu 37 8 28600685 28600685 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 28600685 28600685 C T SNP EXTL3 ENST00000220562 human ensembl 74_37 +1 known missense c.2504 p.A835V 1.000 pfam_HexNAc_Trfase_a pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL3 HGNC ENSG00000012232 144 0 0 113 24 17.5182 HMBOX1 0 genome.wustl.edu 37 8 28876412 28876412 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 28876412 28876412 G A SNP HMBOX1 ENST00000444075 human ensembl 74_37 +1 known missense c.833 p.C278Y 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HMBOX1 HGNC ENSG00000147421 87 0 0 68 16 19.0476 KIF13B 0 genome.wustl.edu 37 8 28967445 28967445 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 28967445 28967445 C T SNP KIF13B ENST00000524189 human ensembl 74_37 -1 known missense c.4073 p.R1358H 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 22 0 0 20 4 16.6667 GSR 0 genome.wustl.edu 37 8 30565642 30565642 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 30565642 30565642 G A SNP GSR ENST00000221130 human ensembl 74_37 -1 known missense c.439 p.R147W 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,tigrfam_Glutathione_Rdtase_euk/bac pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Glutathione_Rdtase_euk/bac - no_errors GSR HGNC ENSG00000104687 94 0 0 90 10 10 PPP2CB 0 genome.wustl.edu 37 8 30651531 30651531 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 30651531 30651531 G A SNP PPP2CB ENST00000221138 human ensembl 74_37 -1 known missense c.640 p.R214C 1.000 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP2CB HGNC ENSG00000104695 28 0 0 23 5 17.8571 UNC5D 0 genome.wustl.edu 37 8 35544118 35544118 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 35544118 35544118 A G SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known silent c.975 p.E325 0.992 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt 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 34 0 0 40 8 16.6667 KCNU1 0 genome.wustl.edu 37 8 36780102 36780102 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 36780102 36780102 G A SNP KCNU1 ENST00000399881 human ensembl 74_37 +1 known silent c.2691 p.T897 0.414 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 64 0 0 47 8 14.5455 RAB11FIP1 0 genome.wustl.edu 37 8 37730004 37730004 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 37730004 37730004 C T SNP RAB11FIP1 ENST00000330843 human ensembl 74_37 -1 known silent c.2316 p.A772 0.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP1 HGNC ENSG00000156675 83 0 0 57 6 9.52381 EIF4EBP1 0 genome.wustl.edu 37 8 37914773 37914773 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 37914773 37914773 C T SNP EIF4EBP1 ENST00000338825 human ensembl 74_37 +1 known missense c.320 p.A107V 0.008 pfam_EIF4EBP pfam_EIF4EBP - no_errors EIF4EBP1 HGNC ENSG00000187840 42 0 0 31 10 24.3902 FGFR1 0 genome.wustl.edu 37 8 38271528 38271528 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 38271528 38271528 G A SNP FGFR1 ENST00000425967 human ensembl 74_37 -1 known missense c.2293 p.R765W 1.000 pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR1 HGNC ENSG00000077782 28 0 0 22 8 26.6667 C8orf86 0 genome.wustl.edu 37 8 38386081 38386081 + Silent SNP A A C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 38386081 38386081 A C SNP C8orf86 ENST00000358138 human ensembl 74_37 -1 known silent c.75 p.L25 0.000 NULL NULL - no_errors C8orf86 HGNC ENSG00000196166 61 0 0 63 9 12.5 TACC1 0 genome.wustl.edu 37 8 38677330 38677330 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 38677330 38677330 G A SNP TACC1 ENST00000379931 human ensembl 74_37 +1 known missense c.568 p.A190T 0.000 NULL pfam_TACC - no_errors TACC1 HGNC ENSG00000147526 78 0 0 59 13 18.0556 PLEKHA2 0 genome.wustl.edu 37 8 38810831 38810831 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 38810831 38810831 G A SNP PLEKHA2 ENST00000420274 human ensembl 74_37 +1 known missense c.719 p.R240H 0.998 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA2 HGNC ENSG00000169499 178 0 0 163 33 16.8367 HTRA4 0 genome.wustl.edu 37 8 38832617 38832617 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 38832617 38832617 G A SNP HTRA4 ENST00000302495 human ensembl 74_37 +1 known silent c.534 p.A178 0.965 superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,pfam_PDZ,pfam_Kazal_dom,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA4 HGNC ENSG00000169495 92 0 0 66 21 24.1379 HTRA4 0 genome.wustl.edu 37 8 38839212 38839212 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 38839212 38839212 A G SNP HTRA4 ENST00000302495 human ensembl 74_37 +1 known missense c.1040 p.D347G 0.894 superfamily_Trypsin-like_Pept_dom,prints_Peptidase_S1C pfam_Peptidase_S1,pfam_PDZ,pfam_Kazal_dom,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA4 HGNC ENSG00000169495 127 0 0 112 6 5.08475 FBXO25 0 genome.wustl.edu 37 8 401417 401417 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 401417 401417 C T SNP FBXO25 ENST00000276326 human ensembl 74_37 +1 known silent c.624 p.A208 0.177 NULL superfamily_F-box_dom - no_errors FBXO25 HGNC ENSG00000147364 80 0 0 74 5 6.32911 ANK1 0 genome.wustl.edu 37 8 41553956 41553956 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 41553956 41553956 G A SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.2885 p.P962L 0.998 pfam_ZU5,smart_ZU5,pfscan_ZU5 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 33 0 0 25 6 19.3548 KAT6A 0 genome.wustl.edu 37 8 41790423 41790423 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 41790423 41790423 C T SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.5315 p.S1772N 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 215 0 0 181 15 7.65306 KAT6A 0 genome.wustl.edu 37 8 41791549 41791549 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 41791549 41791549 C T SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.4189 p.E1397K 0.999 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 79 0 0 78 8 9.30233 PLAT 0 genome.wustl.edu 37 8 42038027 42038027 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 42038027 42038027 C T SNP PLAT ENST00000220809 human ensembl 74_37 -1 known missense c.1066 p.A356T 0.997 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,pfam_Kringle,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PLAT HGNC ENSG00000104368 107 0 0 79 16 16.8421 CHRNB3 0 genome.wustl.edu 37 8 42587066 42587066 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 42587066 42587066 G A SNP CHRNB3 ENST00000289957 human ensembl 74_37 +1 known missense c.616 p.A206T 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB3 HGNC ENSG00000147432 123 0 0 100 7 6.54206 CHRNB3 0 genome.wustl.edu 37 8 42587142 42587142 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 42587142 42587142 G A SNP CHRNB3 ENST00000289957 human ensembl 74_37 +1 known missense c.692 p.R231H 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB3 HGNC ENSG00000147432 71 0 0 56 9 13.8462 POMK 0 genome.wustl.edu 37 8 42958728 42958728 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 42958728 42958728 G A SNP POMK ENST00000331373 human ensembl 74_37 +1 known missense c.37 p.A13T 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors POMK HGNC ENSG00000185900 86 0 0 65 26 28.5714 POTEA 0 genome.wustl.edu 37 8 43147674 43147674 + RNA SNP A A C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 43147674 43147674 A C SNP POTEA ENST00000522175 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors POTEA HGNC ENSG00000188877 66 0 0 62 11 15.0685 SPIDR 0 genome.wustl.edu 37 8 48648041 48648041 + Silent SNP A A C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 48648041 48648041 A C SNP SPIDR ENST00000518074 human ensembl 74_37 +1 putative silent c.2598 p.A866 0.000 NULL NULL - no_errors SPIDR HGNC ENSG00000164808 45 0 0 30 3 9.09091 PRKDC 0 genome.wustl.edu 37 8 48713457 48713457 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 48713457 48713457 G A SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.10010 p.A3337V 0.997 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT 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 44 0 0 32 3 8.57143 PRKDC 0 genome.wustl.edu 37 8 48772316 48772316 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 48772316 48772316 A G SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known silent c.6060 p.G2020 0.542 pfam_NUC194,superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 82 0 0 70 13 15.6627 EFCAB1 0 genome.wustl.edu 37 8 49643974 49643974 + Missense_Mutation SNP A A T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 49643974 49643974 A T SNP EFCAB1 ENST00000262103 human ensembl 74_37 -1 known missense c.147 p.D49E 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors EFCAB1 HGNC ENSG00000034239 77 0 0 66 18 21.4286 SNAI2 0 genome.wustl.edu 37 8 49833817 49833817 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 49833817 49833817 C T SNP SNAI2 ENST00000020945 human ensembl 74_37 -1 known missense c.8 p.R3H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI2 HGNC ENSG00000019549 66 0 0 68 5 6.84932 PXDNL 0 genome.wustl.edu 37 8 52320786 52320786 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 52320786 52320786 G A SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.3398 p.A1133V 0.987 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 88 0 0 63 15 19.2308 ATP6V1H 0 genome.wustl.edu 37 8 54628573 54628573 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 54628573 54628573 C T SNP ATP6V1H ENST00000359530 human ensembl 74_37 -1 known missense c.1403 p.G468D 0.999 pirsf_ATPase_V1-cplx_hsu pfam_ATPase_V1-cplx_hsu,pfam_ATPase_V1-cplx_hsu_C,superfamily_ARM-type_fold,pirsf_ATPase_V1-cplx_hsu - no_errors ATP6V1H HGNC ENSG00000047249 21 0 0 12 6 33.3333 RP1 0 genome.wustl.edu 37 8 55541823 55541823 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 55541823 55541823 G A SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.5381 p.G1794D 0.089 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 52 0 0 33 7 17.5 XKR4 0 genome.wustl.edu 37 8 56436092 56436092 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 56436092 56436092 A G SNP XKR4 ENST00000327381 human ensembl 74_37 +1 known missense c.1259 p.E420G 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 191 1 0.520833 166 38 18.6275 PLAG1 0 genome.wustl.edu 37 8 57078977 57078977 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 57078977 57078977 C T SNP PLAG1 ENST00000316981 human ensembl 74_37 -1 known missense c.1328 p.S443N 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAG1 HGNC ENSG00000181690 124 0 0 91 14 13.3333 PLAG1 0 genome.wustl.edu 37 8 57079635 57079635 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 57079635 57079635 G A SNP PLAG1 ENST00000316981 human ensembl 74_37 -1 known nonsense c.670 p.R224* 0.957 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAG1 HGNC ENSG00000181690 113 0 0 92 17 15.5963 PENK 0 genome.wustl.edu 37 8 57358283 57358283 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 57358283 57358283 A G SNP PENK ENST00000518770 human ensembl 74_37 -1 putative missense c.230 p.V77A 0.000 NULL pfam_Opioid_neupept,prints_Proenkphlin_A - no_errors PENK HGNC ENSG00000181195 13 0 0 10 3 23.0769 FAM110B 0 genome.wustl.edu 37 8 59058997 59058997 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 59058997 59058997 G A SNP FAM110B ENST00000361488 human ensembl 74_37 +1 known missense c.208 p.A70T 1.000 NULL NULL - no_errors FAM110B HGNC ENSG00000169122 18 0 0 23 9 28.125 NSMAF 0 genome.wustl.edu 37 8 59555553 59555553 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 59555553 59555553 G A SNP NSMAF ENST00000427130 human ensembl 74_37 -1 known missense c.232 p.H78Y 0.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NSMAF HGNC ENSG00000035681 100 0 0 69 20 22.4719 TOX 0 genome.wustl.edu 37 8 59728227 59728227 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 59728227 59728227 C T SNP TOX ENST00000361421 human ensembl 74_37 -1 known silent c.1062 p.S354 0.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX HGNC ENSG00000198846 54 0 0 44 10 18.5185 CHD7 0 genome.wustl.edu 37 8 61777937 61777937 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 61777937 61777937 C T SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known silent c.8439 p.G2813 0.997 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 27 0 0 14 5 26.3158 ANGPT2 0 genome.wustl.edu 37 8 6360702 6360702 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 6360702 6360702 C T SNP ANGPT2 ENST00000325203 human ensembl 74_37 -1 known missense c.1411 p.G471S 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT2 HGNC ENSG00000091879 98 0 0 112 6 5.08475 ANGPT2 0 genome.wustl.edu 37 8 6371295 6371295 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 6371295 6371295 C T SNP ANGPT2 ENST00000325203 human ensembl 74_37 -1 known missense c.1103 p.R368H 0.127 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT2 HGNC ENSG00000091879 102 0 0 86 7 7.52688 YTHDF3 0 genome.wustl.edu 37 8 64099768 64099768 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 64099768 64099768 C A SNP YTHDF3 ENST00000539294 human ensembl 74_37 +1 known missense c.1196 p.A399D 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF3 HGNC ENSG00000185728 65 0 0 41 21 33.871 ANGPT2 0 genome.wustl.edu 37 8 6420295 6420295 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 6420295 6420295 C T SNP ANGPT2 ENST00000325203 human ensembl 74_37 -1 known missense c.161 p.R54H 1.000 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT2 HGNC ENSG00000091879 53 0 0 43 6 12.2449 AGPAT5 0 genome.wustl.edu 37 8 6614919 6614919 + RNA SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 6614919 6614919 T C SNP AGPAT5 ENST00000533159 human ensembl 74_37 +1 putative rna NULL NULL 0.001 - - - no_errors AGPAT5 HGNC ENSG00000155189 52 0 0 43 10 18.8679 TRIM55 0 genome.wustl.edu 37 8 67061935 67061935 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 67061935 67061935 G A SNP TRIM55 ENST00000315962 human ensembl 74_37 +1 known missense c.659 p.G220D 0.998 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM55 HGNC ENSG00000147573 89 0 0 79 17 17.7083 DEFB1 0 genome.wustl.edu 37 8 6728299 6728299 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 6728299 6728299 G A SNP DEFB1 ENST00000297439 human ensembl 74_37 -1 known silent c.111 p.C37 0.002 pfam_Defensin_beta-typ pfam_Defensin_beta-typ - no_errors DEFB1 HGNC ENSG00000164825 67 0 0 47 6 11.3208 SGK3 0 genome.wustl.edu 37 8 67734620 67734620 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 67734620 67734620 G T SNP SGK3 ENST00000345714 human ensembl 74_37 +1 known missense c.343 p.A115S 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Phox,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Phox,pfscan_Prot_kinase_dom - no_errors SGK3 HGNC ENSG00000104205 244 0 0 199 33 14.2241 ARFGEF1 0 genome.wustl.edu 37 8 68169965 68169965 + Splice_Site SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 68169965 68169965 A G SNP ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known splice_site c.2526+2 e17+2 1.000 - - - no_errors ARFGEF1 HGNC ENSG00000066777 126 0 0 115 20 14.8148 PREX2 0 genome.wustl.edu 37 8 68956736 68956736 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 68956736 68956736 G A SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.854 p.S285N 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 99 0 0 83 21 20.1923 PREX2 0 genome.wustl.edu 37 8 69021701 69021701 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 69021701 69021701 G A SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.2989 p.A997T 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 78 0 0 63 18 22.2222 TRPA1 0 genome.wustl.edu 37 8 72968043 72968043 + Silent SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 72968043 72968043 A G SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known silent c.1242 p.C414 0.939 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 59 0 0 41 11 21.1538 ZFHX4 0 genome.wustl.edu 37 8 77763549 77763549 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 77763549 77763549 C T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known silent c.4392 p.P1464 0.994 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 58 0 0 46 11 19.2982 ZFHX4 0 genome.wustl.edu 37 8 77763597 77763597 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 77763597 77763597 C A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.4440 p.D1480E 0.998 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 68 0 0 63 8 11.2676 ZFHX4 0 genome.wustl.edu 37 8 77766752 77766752 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 77766752 77766752 C T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.7595 p.P2532L 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 207 0 0 174 24 12.1212 PKIA 0 genome.wustl.edu 37 8 79514053 79514053 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 79514053 79514053 C T SNP PKIA ENST00000352966 human ensembl 74_37 +1 known silent c.228 p.S76 1.000 pirsf_cAMP_dep_PKI pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI - no_errors PKIA HGNC ENSG00000171033 78 0 0 65 4 5.7971 FAM86B3P 0 genome.wustl.edu 37 8 8094771 8094771 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 8094771 8094771 C T SNP FAM86B3P ENST00000522601 human ensembl 74_37 +1 known rna NULL NULL 0.986 - - - no_errors FAM86B3P HGNC ENSG00000173295 50 0 0 44 11 20 FAM86B3P 0 genome.wustl.edu 37 8 8098832 8098832 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 8098832 8098832 C T SNP FAM86B3P ENST00000310542 human ensembl 74_37 +1 known rna NULL NULL 0.105 - - - no_errors FAM86B3P HGNC ENSG00000173295 37 0 0 30 4 11.7647 ZNF704 0 genome.wustl.edu 37 8 81577073 81577073 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 81577073 81577073 C T SNP ZNF704 ENST00000327835 human ensembl 74_37 -1 known missense c.904 p.V302M 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF704 HGNC ENSG00000164684 91 0 0 65 16 19.7531 FABP5 0 genome.wustl.edu 37 8 82195629 82195629 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 82195629 82195629 C T SNP FABP5 ENST00000297258 human ensembl 74_37 +1 known silent c.108 p.G36 0.001 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP5 HGNC ENSG00000164687 47 0 0 29 5 14.7059 CA3 0 genome.wustl.edu 37 8 86357402 86357402 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 86357402 86357402 C T SNP CA3 ENST00000285381 human ensembl 74_37 +1 known silent c.462 p.G154 0.997 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 CA3 HGNC ENSG00000164879 59 0 0 55 11 16.6667 WWP1 0 genome.wustl.edu 37 8 87393781 87393781 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 87393781 87393781 G A SNP WWP1 ENST00000265428 human ensembl 74_37 +1 known missense c.257 p.R86H 0.988 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom 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 WWP1 HGNC ENSG00000123124 94 0 0 59 36 37.8947 WWP1 0 genome.wustl.edu 37 8 87447904 87447904 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 87447904 87447904 C T SNP WWP1 ENST00000265428 human ensembl 74_37 +1 known nonsense c.1720 p.Q574* 1.000 superfamily_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 WWP1 HGNC ENSG00000123124 113 0 0 123 11 8.20896 ERI1 0 genome.wustl.edu 37 8 8869247 8869247 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 8869247 8869247 G A SNP ERI1 ENST00000250263 human ensembl 74_37 +1 known silent c.483 p.T161 0.006 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,pfam_SAP_dom,superfamily_RNaseH-like_dom,smart_SAP_dom,smart_Exonuclease,pfscan_SAP_dom - no_errors ERI1 HGNC ENSG00000104626 40 0 0 34 7 17.0732 OSGIN2 0 genome.wustl.edu 37 8 90937134 90937134 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 90937134 90937134 C T SNP OSGIN2 ENST00000451899 human ensembl 74_37 +1 known missense c.1024 p.R342C 0.976 NULL NULL - no_errors OSGIN2 HGNC ENSG00000164823 186 0 0 145 24 14.2012 RUNX1T1 0 genome.wustl.edu 37 8 92998493 92998493 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 92998493 92998493 G A SNP RUNX1T1 ENST00000436581 human ensembl 74_37 -1 known missense c.1171 p.R391W 1.000 pfam_NHR2 pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 114 0 0 123 9 6.81818 RUNX1T1 0 genome.wustl.edu 37 8 93017525 93017525 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 93017525 93017525 C T SNP RUNX1T1 ENST00000436581 human ensembl 74_37 -1 known missense c.592 p.A198T 1.000 pfam_TAFH_NHR1,smart_TAFH_NHR1,pfscan_TAFH_NHR1,prints_ETO pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 47 0 0 24 7 22.5806 CDH17 0 genome.wustl.edu 37 8 95189851 95189851 + Silent SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 95189851 95189851 G T SNP CDH17 ENST00000027335 human ensembl 74_37 -1 known silent c.249 p.A83 0.040 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH17 HGNC ENSG00000079112 154 0 0 131 7 5.07246 RAD54B 0 genome.wustl.edu 37 8 95423510 95423510 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 95423510 95423510 T C SNP RAD54B ENST00000336148 human ensembl 74_37 -1 known missense c.338 p.K113R 0.009 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 74 0 0 64 5 7.24638 FSBP 0 genome.wustl.edu 37 8 95448891 95448891 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 95448891 95448891 C T SNP FSBP ENST00000481490 human ensembl 74_37 -1 known missense c.206 p.R69H 1.000 NULL NULL - no_errors FSBP HGNC ENSG00000265817 8 0 0 7 3 30 KIAA1429 0 genome.wustl.edu 37 8 95523709 95523709 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 95523709 95523709 G A SNP KIAA1429 ENST00000297591 human ensembl 74_37 -1 known missense c.3094 p.R1032C 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 71 0 0 50 12 19.3548 TNKS 0 genome.wustl.edu 37 8 9567472 9567472 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 9567472 9567472 C T SNP TNKS ENST00000310430 human ensembl 74_37 +1 known missense c.1586 p.A529V 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS HGNC ENSG00000173273 59 0 0 36 16 30.7692 ESRP1 0 genome.wustl.edu 37 8 95680362 95680362 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 95680362 95680362 G A SNP ESRP1 ENST00000433389 human ensembl 74_37 +1 known missense c.1117 p.A373T 1.000 smart_RRM_dom,pfscan_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 105 0 0 83 11 11.7021 INTS8 0 genome.wustl.edu 37 8 95886789 95886789 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 95886789 95886789 C T SNP INTS8 ENST00000523731 human ensembl 74_37 +1 known nonsense c.2647 p.R883* 0.999 NULL NULL - no_errors INTS8 HGNC ENSG00000164941 28 0 0 37 7 15.9091 TNKS 0 genome.wustl.edu 37 8 9605598 9605598 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 9605598 9605598 C T SNP TNKS ENST00000310430 human ensembl 74_37 +1 known missense c.2708 p.A903V 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS HGNC ENSG00000173273 105 0 0 102 12 10.5263 TNKS 0 genome.wustl.edu 37 8 9605648 9605648 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 9605648 9605648 G A SNP TNKS ENST00000310430 human ensembl 74_37 +1 known missense c.2758 p.A920T 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS HGNC ENSG00000173273 75 0 0 53 11 17.1875 PLEKHF2 0 genome.wustl.edu 37 8 96166313 96166313 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 96166313 96166313 G A SNP PLEKHF2 ENST00000315367 human ensembl 74_37 +1 known missense c.41 p.R14H 1.000 NULL pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_Znf_FYVE_PHD,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel - no_errors PLEKHF2 HGNC ENSG00000175895 102 0 0 88 27 23.4783 GDF6 0 genome.wustl.edu 37 8 97157065 97157065 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 97157065 97157065 T C SNP GDF6 ENST00000287020 human ensembl 74_37 -1 known missense c.1094 p.E365G 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF6 HGNC ENSG00000156466 32 0 0 35 3 7.89474 GDF6 0 genome.wustl.edu 37 8 97157131 97157131 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 97157131 97157131 C T SNP GDF6 ENST00000287020 human ensembl 74_37 -1 known missense c.1028 p.G343D 1.000 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF6 HGNC ENSG00000156466 14 0 0 15 3 16.6667 TDRD7 0 genome.wustl.edu 37 9 100245401 100245401 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 100245401 100245401 G A SNP TDRD7 ENST00000355295 human ensembl 74_37 +1 known missense c.2683 p.A895T 0.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD7 HGNC ENSG00000196116 67 0 0 32 12 27.2727 TSTD2 0 genome.wustl.edu 37 9 100365028 100365028 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 100365028 100365028 C T SNP TSTD2 ENST00000341170 human ensembl 74_37 -1 known missense c.1274 p.R425H 0.000 superfamily_Rhodanese-like_dom pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors TSTD2 HGNC ENSG00000136925 63 0 0 47 5 9.61538 NCBP1 0 genome.wustl.edu 37 9 100420938 100420938 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 100420938 100420938 C T SNP NCBP1 ENST00000375147 human ensembl 74_37 +1 known missense c.1390 p.R464C 1.000 pfam_MIF4G-like_typ-1,superfamily_ARM-type_fold pfam_MIF4G-like_typ-2,pfam_MIF4G-like_typ-1,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors NCBP1 HGNC ENSG00000136937 58 0 0 43 13 23.2143 C9orf156 0 genome.wustl.edu 37 9 100672390 100672390 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 100672390 100672390 C T SNP C9orf156 ENST00000375119 human ensembl 74_37 -1 known silent c.918 p.Q306 0.000 superfamily_UPF0066_YaeB pfam_UPF0066,superfamily_UPF0066_YaeB,tigrfam_UPF0066 - no_errors C9orf156 HGNC ENSG00000136932 47 0 0 30 9 23.0769 GABBR2 0 genome.wustl.edu 37 9 101340263 101340263 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 101340263 101340263 A G SNP GABBR2 ENST00000259455 human ensembl 74_37 -1 known missense c.413 p.V138A 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3 pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C - no_errors GABBR2 HGNC ENSG00000136928 78 0 0 73 5 6.41026 INVS 0 genome.wustl.edu 37 9 103054969 103054969 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 103054969 103054969 C T SNP INVS ENST00000262457 human ensembl 74_37 +1 known silent c.2430 p.R810 1.000 NULL pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ENSG00000119509 55 0 0 30 8 21.0526 TEX10 0 genome.wustl.edu 37 9 103082626 103082626 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 103082626 103082626 A G SNP TEX10 ENST00000374902 human ensembl 74_37 -1 known missense c.2123 p.V708A 1.000 NULL pfam_IPI1/TEX10,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors TEX10 HGNC ENSG00000136891 34 0 0 46 4 8 LPPR1 0 genome.wustl.edu 37 9 104079735 104079735 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 104079735 104079735 C A SNP LPPR1 ENST00000374874 human ensembl 74_37 +1 known missense c.902 p.A301D 1.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR1 Uniprot_gn ENSG00000148123 153 0 0 103 37 26.4286 BAAT 0 genome.wustl.edu 37 9 104125184 104125184 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 104125184 104125184 G A SNP BAAT ENST00000259407 human ensembl 74_37 -1 known silent c.783 p.N261 0.787 pfam_BAAT_C,pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors BAAT HGNC ENSG00000136881 149 0 0 132 9 6.38298 RNF20 0 genome.wustl.edu 37 9 104302555 104302555 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 104302555 104302555 C T SNP RNF20 ENST00000389120 human ensembl 74_37 +1 known missense c.200 p.A67V 1.000 NULL superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF20 HGNC ENSG00000155827 124 0 0 68 17 20 TMEM38B 0 genome.wustl.edu 37 9 108457045 108457045 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 108457045 108457045 G A SNP TMEM38B ENST00000374692 human ensembl 74_37 +1 known missense c.104 p.R35H 0.003 pfam_TRIC_channel pfam_TRIC_channel - no_errors TMEM38B HGNC ENSG00000095209 36 0 0 31 7 18.4211 ZNF462 0 genome.wustl.edu 37 9 109691644 109691644 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 109691644 109691644 G A SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known silent c.5451 p.K1817 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 128 0 0 85 6 6.59341 IKBKAP 0 genome.wustl.edu 37 9 111659242 111659242 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 111659242 111659242 C T SNP IKBKAP ENST00000374647 human ensembl 74_37 -1 known missense c.2578 p.E860K 1.000 pfam_IKI3,pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 102 1 0.970874 73 30 29.1262 EPB41L4B 0 genome.wustl.edu 37 9 111947811 111947811 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 111947811 111947811 C A SNP EPB41L4B ENST00000374566 human ensembl 74_37 -1 known missense c.2376 p.E792D 1.000 NULL 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 47 0 0 29 10 25.641 EPB41L4B 0 genome.wustl.edu 37 9 112042125 112042125 + Missense_Mutation SNP A A C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 112042125 112042125 A C SNP EPB41L4B ENST00000374566 human ensembl 74_37 -1 known missense c.383 p.L128R 1.000 pfam_FERM_N,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 66 0 0 52 20 27.7778 PALM2-AKAP2 0 genome.wustl.edu 37 9 112899061 112899061 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 112899061 112899061 C T SNP PALM2-AKAP2 ENST00000374530 human ensembl 74_37 +1 known missense c.1237 p.R413C 1.000 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 76 0 0 53 19 26.3889 SVEP1 0 genome.wustl.edu 37 9 113168502 113168502 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 113168502 113168502 C T SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known silent c.9378 p.P3126 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 153 0 0 123 10 7.5188 SVEP1 0 genome.wustl.edu 37 9 113261516 113261516 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 113261516 113261516 G A SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.1486 p.R496C 0.997 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 48 0 0 31 13 29.5455 LPAR1 0 genome.wustl.edu 37 9 113637839 113637839 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 113637839 113637839 G A SNP LPAR1 ENST00000538760 human ensembl 74_37 -1 known silent c.960 p.S320 1.000 prints_LPA_rcpt_EDG2,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG2,prints_LPA_rcpt,prints_GPCR_Rhodpsn - no_errors LPAR1 HGNC ENSG00000198121 124 0 0 59 25 29.7619 LPAR1 0 genome.wustl.edu 37 9 113704425 113704425 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 113704425 113704425 C A SNP LPAR1 ENST00000538760 human ensembl 74_37 -1 known missense c.72 p.Q24H 1.000 prints_LPA_rcpt_EDG2 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG2,prints_LPA_rcpt,prints_GPCR_Rhodpsn - no_errors LPAR1 HGNC ENSG00000198121 89 0 0 78 24 23.5294 KIAA1958 0 genome.wustl.edu 37 9 115336875 115336875 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 115336875 115336875 G A SNP KIAA1958 ENST00000536272 human ensembl 74_37 +1 known missense c.515 p.R172H 1.000 NULL pfam_DUF3504,superfamily_Integrase_Lambda-type_N - no_errors KIAA1958 HGNC ENSG00000165185 102 1 0.970874 107 11 9.32203 FKBP15 0 genome.wustl.edu 37 9 115959248 115959248 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 115959248 115959248 C T SNP FKBP15 ENST00000238256 human ensembl 74_37 -1 known silent c.828 p.T276 0.069 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom - no_errors FKBP15 HGNC ENSG00000119321 111 0 0 82 5 5.74713 PRPF4 0 genome.wustl.edu 37 9 116053015 116053015 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 116053015 116053015 G T SNP PRPF4 ENST00000374198 human ensembl 74_37 +1 known missense c.1184 p.R395L 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_PRP4-like,superfamily_WD40_repeat_dom,smart_SFM,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PRPF4 HGNC ENSG00000136875 96 0 0 65 17 20.7317 WDR31 0 genome.wustl.edu 37 9 116080824 116080824 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 116080824 116080824 C T SNP WDR31 ENST00000374193 human ensembl 74_37 -1 known missense c.874 p.A292T 0.001 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR31 HGNC ENSG00000148225 139 0 0 102 28 21.5385 BSPRY 0 genome.wustl.edu 37 9 116130628 116130628 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 116130628 116130628 A G SNP BSPRY ENST00000374183 human ensembl 74_37 +1 known missense c.647 p.Q216R 0.055 pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors BSPRY HGNC ENSG00000119411 108 0 0 79 23 22.549 ZNF618 0 genome.wustl.edu 37 9 116812207 116812207 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 116812207 116812207 C T SNP ZNF618 ENST00000374126 human ensembl 74_37 +1 known silent c.2625 p.Y875 0.580 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF618 HGNC ENSG00000157657 86 0 0 77 5 6.09756 COL27A1 0 genome.wustl.edu 37 9 116930298 116930298 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 116930298 116930298 C T SNP COL27A1 ENST00000356083 human ensembl 74_37 +1 known missense c.463 p.R155C 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 35 0 0 15 3 16.6667 COL27A1 0 genome.wustl.edu 37 9 117062910 117062910 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 117062910 117062910 G A SNP COL27A1 ENST00000356083 human ensembl 74_37 +1 known silent c.4644 p.P1548 0.996 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 26 0 0 20 6 23.0769 COL27A1 0 genome.wustl.edu 37 9 117070050 117070050 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 117070050 117070050 G A SNP COL27A1 ENST00000356083 human ensembl 74_37 +1 known missense c.5209 p.A1737T 0.993 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 75 0 0 41 20 32.7869 DFNB31 0 genome.wustl.edu 37 9 117188608 117188608 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 117188608 117188608 C T SNP DFNB31 ENST00000362057 human ensembl 74_37 -1 known missense c.1049 p.R350Q 0.996 pfam_PDZ,superfamily_PDZ,smart_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC ENSG00000095397 75 0 0 38 4 9.52381 PAPPA 0 genome.wustl.edu 37 9 119124887 119124887 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 119124887 119124887 T C SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known missense c.4364 p.V1455A 0.174 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 102 0 0 69 23 25 ASTN2 0 genome.wustl.edu 37 9 119976705 119976705 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 119976705 119976705 C T SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.947 p.S316N 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 101 0 0 81 24 22.8571 TLR4 0 genome.wustl.edu 37 9 120476537 120476537 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 120476537 120476537 G T SNP TLR4 ENST00000355622 human ensembl 74_37 +1 known missense c.2131 p.D711Y 1.000 pirsf_Toll-like_receptor,pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 73 0 0 53 23 30.2632 CDK5RAP2 0 genome.wustl.edu 37 9 123220813 123220813 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 123220813 123220813 C T SNP CDK5RAP2 ENST00000349780 human ensembl 74_37 -1 known missense c.2290 p.A764T 0.000 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 68 0 0 63 21 25 CDK5RAP2 0 genome.wustl.edu 37 9 123308012 123308012 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 123308012 123308012 C A SNP CDK5RAP2 ENST00000349780 human ensembl 74_37 -1 known missense c.363 p.E121D 1.000 pfam_Spindle_assoc pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 131 1 0.757576 88 39 30.7087 C5 0 genome.wustl.edu 37 9 123769199 123769199 + Missense_Mutation SNP A A C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 123769199 123769199 A C SNP C5 ENST00000223642 human ensembl 74_37 -1 known missense c.2405 p.V802G 0.951 pfam_Macroglobln_a2 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 49 17 25.7576 RAB14 0 genome.wustl.edu 37 9 123952946 123952946 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 123952946 123952946 C T SNP RAB14 ENST00000373840 human ensembl 74_37 -1 known missense c.170 p.G57D 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB14 HGNC ENSG00000119396 78 0 0 83 5 5.68182 GSN 0 genome.wustl.edu 37 9 124064372 124064372 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 124064372 124064372 C T SNP GSN ENST00000373818 human ensembl 74_37 +1 known silent c.276 p.G92 0.510 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors GSN HGNC ENSG00000148180 119 0 0 77 6 7.22892 DAB2IP 0 genome.wustl.edu 37 9 124522353 124522353 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 124522353 124522353 C T SNP DAB2IP ENST00000408936 human ensembl 74_37 +1 known missense c.805 p.R269C 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 95 0 0 45 19 29.6875 DAB2IP 0 genome.wustl.edu 37 9 124528868 124528868 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 124528868 124528868 C T SNP DAB2IP ENST00000408936 human ensembl 74_37 +1 known missense c.1556 p.A519V 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 64 0 0 36 9 20 LHX6 0 genome.wustl.edu 37 9 124975917 124975917 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 124975917 124975917 G A SNP LHX6 ENST00000394319 human ensembl 74_37 -1 known missense c.1022 p.A341V 1.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX6 HGNC ENSG00000106852 16 0 0 16 4 20 PTGS1 0 genome.wustl.edu 37 9 125140215 125140215 + Silent SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 125140215 125140215 C A SNP PTGS1 ENST00000362012 human ensembl 74_37 +1 known silent c.132 p.G44 0.010 pfscan_EG-like_dom pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors PTGS1 HGNC ENSG00000095303 66 0 0 50 11 18.0328 PTGS1 0 genome.wustl.edu 37 9 125143979 125143979 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 125143979 125143979 C T SNP PTGS1 ENST00000362012 human ensembl 74_37 +1 known missense c.715 p.R239C 0.971 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors PTGS1 HGNC ENSG00000095303 30 0 0 30 15 33.3333 OR1L1 0 genome.wustl.edu 37 9 125424697 125424697 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 125424697 125424697 C T SNP OR1L1 ENST00000373686 human ensembl 74_37 +1 known missense c.853 p.R285C 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L1 HGNC ENSG00000173679 216 1 0.460829 158 15 8.67052 ZBTB26 0 genome.wustl.edu 37 9 125681251 125681251 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 125681251 125681251 G A SNP ZBTB26 ENST00000373654 human ensembl 74_37 -1 known silent c.963 p.A321 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB26 HGNC ENSG00000171448 93 0 0 66 22 25 STRBP 0 genome.wustl.edu 37 9 125898431 125898431 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 125898431 125898431 G A SNP STRBP ENST00000348403 human ensembl 74_37 -1 known silent c.1662 p.G554 0.985 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_DZF,pfam_dsRNA-bd_dom,smart_DZF,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors STRBP HGNC ENSG00000165209 108 0 0 84 27 24.3243 STRBP 0 genome.wustl.edu 37 9 125941475 125941475 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 125941475 125941475 C T SNP STRBP ENST00000348403 human ensembl 74_37 -1 known missense c.35 p.R12H 1.000 NULL pfam_DZF,pfam_dsRNA-bd_dom,smart_DZF,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors STRBP HGNC ENSG00000165209 72 0 0 54 13 19.403 CRB2 0 genome.wustl.edu 37 9 126132504 126132504 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 126132504 126132504 G A SNP CRB2 ENST00000373631 human ensembl 74_37 +1 known missense c.1172 p.R391H 0.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB2 HGNC ENSG00000148204 32 0 0 17 5 22.7273 CRB2 0 genome.wustl.edu 37 9 126132729 126132729 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 126132729 126132729 G A SNP CRB2 ENST00000373631 human ensembl 74_37 +1 known missense c.1397 p.R466H 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB2 HGNC ENSG00000148204 45 0 0 23 8 25.8065 CRB2 0 genome.wustl.edu 37 9 126133829 126133829 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 126133829 126133829 C T SNP CRB2 ENST00000373631 human ensembl 74_37 +1 known missense c.2408 p.A803V 0.000 superfamily_ConA-like_lec_gl_sf pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB2 HGNC ENSG00000148204 25 0 0 13 6 31.5789 DENND1A 0 genome.wustl.edu 37 9 126414424 126414424 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 126414424 126414424 G A SNP DENND1A ENST00000475615 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors DENND1A HGNC ENSG00000119522 34 0 0 23 5 17.8571 LHX2 0 genome.wustl.edu 37 9 126777465 126777465 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 126777465 126777465 C T SNP LHX2 ENST00000373615 human ensembl 74_37 +1 known missense c.388 p.R130C 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX2 HGNC ENSG00000106689 135 0 0 88 33 27.2727 OLFML2A 0 genome.wustl.edu 37 9 127572560 127572560 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 127572560 127572560 G A SNP OLFML2A ENST00000373580 human ensembl 74_37 +1 known missense c.1828 p.A610T 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2A HGNC ENSG00000185585 34 0 0 28 6 17.6471 GAPVD1 0 genome.wustl.edu 37 9 128025965 128025965 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 128025965 128025965 G A SNP GAPVD1 ENST00000469528 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors GAPVD1 HGNC ENSG00000165219 57 0 0 22 12 35.2941 MAPKAP1 0 genome.wustl.edu 37 9 128434766 128434766 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 128434766 128434766 C T SNP MAPKAP1 ENST00000265960 human ensembl 74_37 -1 known missense c.88 p.V30I 1.000 pfam_SIN1 pfam_SIN1 - no_errors MAPKAP1 HGNC ENSG00000119487 88 0 0 47 24 33.8028 STXBP1 0 genome.wustl.edu 37 9 130430453 130430453 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 130430453 130430453 G A SNP STXBP1 ENST00000373299 human ensembl 74_37 +1 known missense c.889 p.A297T 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP1 HGNC ENSG00000136854 30 0 0 23 6 20.6897 ODF2 0 genome.wustl.edu 37 9 131262457 131262457 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 131262457 131262457 G A SNP ODF2 ENST00000434106 human ensembl 74_37 +1 known missense c.2413 p.A805T 1.000 NULL NULL - no_errors ODF2 HGNC ENSG00000136811 129 0 0 103 40 27.972 GLE1 0 genome.wustl.edu 37 9 131271265 131271265 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 131271265 131271265 G A SNP GLE1 ENST00000309971 human ensembl 74_37 +1 known silent c.210 p.S70 0.000 NULL pfam_GLE1 - no_errors GLE1 HGNC ENSG00000119392 69 0 0 33 16 32.6531 PKN3 0 genome.wustl.edu 37 9 131475831 131475831 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 131475831 131475831 C T SNP PKN3 ENST00000291906 human ensembl 74_37 +1 known silent c.1146 p.G382 0.605 superfamily_C2_dom pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN3 HGNC ENSG00000160447 52 0 0 29 9 23.6842 PKN3 0 genome.wustl.edu 37 9 131476578 131476578 + Missense_Mutation SNP G G C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 131476578 131476578 G C SNP PKN3 ENST00000291906 human ensembl 74_37 +1 known missense c.1415 p.S472T 1.000 NULL pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN3 HGNC ENSG00000160447 73 0 0 62 17 21.519 TBC1D13 0 genome.wustl.edu 37 9 131568288 131568288 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 131568288 131568288 G A SNP TBC1D13 ENST00000372648 human ensembl 74_37 +1 known missense c.1069 p.A357T 1.000 pfam_Rab-GTPase-TBC_dom,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 TBC1D13 HGNC ENSG00000107021 65 0 0 36 9 20 LRRC8A 0 genome.wustl.edu 37 9 131671260 131671260 + Missense_Mutation SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 131671260 131671260 T A SNP LRRC8A ENST00000259324 human ensembl 74_37 +1 known missense c.1817 p.I606N 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8A HGNC ENSG00000136802 76 0 0 44 14 24.1379 NUP188 0 genome.wustl.edu 37 9 131760467 131760467 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 131760467 131760467 G A SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known missense c.3389 p.R1130H 1.000 NULL pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 258 0 0 168 77 31.4286 SH3GLB2 0 genome.wustl.edu 37 9 131777084 131777084 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 131777084 131777084 C T SNP SH3GLB2 ENST00000372554 human ensembl 74_37 -1 known missense c.434 p.R145H 1.000 pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain - no_errors SH3GLB2 HGNC ENSG00000148341 115 0 0 59 11 15.7143 USP20 0 genome.wustl.edu 37 9 132636952 132636952 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 132636952 132636952 G A SNP USP20 ENST00000315480 human ensembl 74_37 +1 known missense c.1838 p.R613H 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP20 HGNC ENSG00000136878 72 0 0 53 7 11.6667 ASS1 0 genome.wustl.edu 37 9 133339508 133339508 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 133339508 133339508 A G SNP ASS1 ENST00000352480 human ensembl 74_37 +1 known missense c.374 p.Q125R 1.000 pfam_Arginosuc_synth,tigrfam_Arginosuc_synth pfam_Arginosuc_synth,pfam_QueC,tigrfam_Arginosuc_synth - no_errors ASS1 HGNC ENSG00000130707 43 0 0 24 6 20 ABL1 0 genome.wustl.edu 37 9 133738377 133738377 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 133738377 133738377 C T SNP ABL1 ENST00000372348 human ensembl 74_37 +1 known silent c.834 p.G278 0.056 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_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 29 0 0 29 14 32.5581 ABL1 0 genome.wustl.edu 37 9 133759406 133759406 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 133759406 133759406 C T SNP ABL1 ENST00000372348 human ensembl 74_37 +1 known nonsense c.1786 p.R596* 1.000 NULL 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 118 0 0 76 30 28.3019 LAMC3 0 genome.wustl.edu 37 9 133946996 133946996 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 133946996 133946996 C T SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known silent c.3195 p.G1065 0.012 NULL pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 27 0 0 15 9 37.5 NUP214 0 genome.wustl.edu 37 9 134002952 134002952 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 134002952 134002952 C A SNP NUP214 ENST00000451030 human ensembl 74_37 +1 known missense c.87 p.D29E 0.091 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 139 0 0 102 32 23.8806 NUP214 0 genome.wustl.edu 37 9 134004682 134004682 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 134004682 134004682 G A SNP NUP214 ENST00000451030 human ensembl 74_37 +1 known missense c.410 p.R137H 0.852 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 69 0 0 61 23 27.381 NUP214 0 genome.wustl.edu 37 9 134019919 134019919 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 134019919 134019919 G A SNP NUP214 ENST00000451030 human ensembl 74_37 +1 known missense c.1547 p.G516D 0.007 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 100 0 0 94 6 6 PRRC2B 0 genome.wustl.edu 37 9 134330540 134330540 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 134330540 134330540 G A SNP PRRC2B ENST00000357304 human ensembl 74_37 +1 known missense c.1198 p.G400S 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 46 0 0 35 6 14.6341 PRRC2B 0 genome.wustl.edu 37 9 134351424 134351424 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 134351424 134351424 G A SNP PRRC2B ENST00000357304 human ensembl 74_37 +1 known missense c.3908 p.R1303H 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 74 0 0 32 24 42.8571 NTNG2 0 genome.wustl.edu 37 9 135114555 135114555 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 135114555 135114555 C T SNP NTNG2 ENST00000360670 human ensembl 74_37 +1 known silent c.1137 p.C379 0.996 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC ENSG00000196358 44 0 0 31 14 31.1111 SETX 0 genome.wustl.edu 37 9 135203175 135203175 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 135203175 135203175 C T SNP SETX ENST00000372169 human ensembl 74_37 -1 known silent c.3810 p.P1270 0.991 NULL superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 244 0 0 194 11 5.36585 TTF1 0 genome.wustl.edu 37 9 135275547 135275547 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 135275547 135275547 G A SNP TTF1 ENST00000334270 human ensembl 74_37 -1 known missense c.1466 p.A489V 0.639 NULL superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC ENSG00000125482 133 0 0 132 35 20.9581 TSC1 0 genome.wustl.edu 37 9 135797351 135797351 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 135797351 135797351 G A SNP TSC1 ENST00000298552 human ensembl 74_37 -1 known missense c.518 p.A173V 1.000 pfam_Hamartin pfam_Hamartin,superfamily_ARM-type_fold - no_errors TSC1 HGNC ENSG00000165699 156 0 0 117 30 20.4082 GTF3C5 0 genome.wustl.edu 37 9 135931464 135931464 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 135931464 135931464 C T SNP GTF3C5 ENST00000372108 human ensembl 74_37 +1 known silent c.1254 p.C418 0.889 NULL pfam_TF_IIIC_su-5 - no_errors GTF3C5 HGNC ENSG00000148308 31 0 0 27 4 12.9032 RALGDS 0 genome.wustl.edu 37 9 135982604 135982604 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 135982604 135982604 C T SNP RALGDS ENST00000542690 human ensembl 74_37 -1 known silent c.1494 p.A498 0.016 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RALGDS HGNC ENSG00000160271 43 0 0 16 4 20 C9orf96 0 genome.wustl.edu 37 9 136256456 136256456 + Splice_Site SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 136256456 136256456 G T SNP C9orf96 ENST00000371957 human ensembl 74_37 +1 known splice_site c.468-1 e7-1 1.000 - - - no_errors C9orf96 HGNC ENSG00000198870 349 0 0 266 23 7.95848 ADAMTS13 0 genome.wustl.edu 37 9 136319700 136319700 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 136319700 136319700 G A SNP ADAMTS13 ENST00000371929 human ensembl 74_37 +1 known missense c.3208 p.A1070T 0.002 superfamily_Thrombospondin_1_rpt,smart_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 17 0 0 7 6 46.1538 DBH 0 genome.wustl.edu 37 9 136508675 136508675 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 136508675 136508675 C T SNP DBH ENST00000393056 human ensembl 74_37 +1 known silent c.885 p.C295 1.000 pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom,prints_Dopamine_b_mOase 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 DBH HGNC ENSG00000123454 46 0 0 15 10 40 VAV2 0 genome.wustl.edu 37 9 136643996 136643996 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 136643996 136643996 G A SNP VAV2 ENST00000371850 human ensembl 74_37 -1 known missense c.1778 p.A593V 0.999 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_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 45 0 0 22 18 45 VAV2 0 genome.wustl.edu 37 9 136677305 136677305 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 136677305 136677305 G A SNP VAV2 ENST00000371850 human ensembl 74_37 -1 known silent c.483 p.C161 0.888 superfamily_CH-domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain - no_errors VAV2 HGNC ENSG00000160293 90 0 0 58 16 21.6216 BRD3 0 genome.wustl.edu 37 9 136913403 136913403 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 136913403 136913403 G A SNP BRD3 ENST00000303407 human ensembl 74_37 -1 known silent c.888 p.G296 0.947 superfamily_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 37 0 0 23 6 20.6897 RXRA 0 genome.wustl.edu 37 9 137300846 137300846 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 137300846 137300846 G A SNP RXRA ENST00000481739 human ensembl 74_37 +1 known missense c.491 p.R164H 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Nuc_recep-AF1,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_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoic_acid_rcpt - no_errors RXRA HGNC ENSG00000186350 68 0 0 62 6 8.82353 RXRA 0 genome.wustl.edu 37 9 137309069 137309069 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 137309069 137309069 G A SNP RXRA ENST00000481739 human ensembl 74_37 +1 known missense c.676 p.A226T 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Nuc_recep-AF1,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_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoic_acid_rcpt - no_errors RXRA HGNC ENSG00000186350 36 0 0 28 3 9.67742 COL5A1 0 genome.wustl.edu 37 9 137707473 137707473 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 137707473 137707473 G A SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known missense c.4066 p.A1356T 0.993 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 COL5A1 HGNC ENSG00000130635 15 0 0 6 5 45.4545 PPP1R26 0 genome.wustl.edu 37 9 138376878 138376878 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 138376878 138376878 G A SNP PPP1R26 ENST00000356818 human ensembl 74_37 +1 known silent c.522 p.P174 0.009 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 27 0 0 13 4 23.5294 PPP1R26 0 genome.wustl.edu 37 9 138379962 138379962 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 138379962 138379962 C T SNP PPP1R26 ENST00000356818 human ensembl 74_37 +1 known silent c.3606 p.G1202 0.001 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 34 0 0 23 7 23.3333 MRPS2 0 genome.wustl.edu 37 9 138395607 138395607 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 138395607 138395607 C T SNP MRPS2 ENST00000241600 human ensembl 74_37 +1 known silent c.519 p.G173 0.309 pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2 pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2 - no_errors MRPS2 HGNC ENSG00000122140 23 0 0 18 4 18.1818 LCN9 0 genome.wustl.edu 37 9 138557549 138557549 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 138557549 138557549 C T SNP LCN9 ENST00000277526 human ensembl 74_37 +1 known silent c.426 p.C142 0.041 superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Maj_urinary,prints_Odour-bd,prints_Blactoglobulin - no_errors LCN9 HGNC ENSG00000148386 30 0 0 17 4 19.0476 CAMSAP1 0 genome.wustl.edu 37 9 138714394 138714394 + Missense_Mutation SNP C C G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 138714394 138714394 C G SNP CAMSAP1 ENST00000409386 human ensembl 74_37 -1 known missense c.2146 p.G716R 0.003 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 41 0 0 32 10 23.8095 UBAC1 0 genome.wustl.edu 37 9 138837817 138837817 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 138837817 138837817 G A SNP UBAC1 ENST00000371756 human ensembl 74_37 -1 known missense c.571 p.R191C 0.991 superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAC1 HGNC ENSG00000130560 34 0 0 24 4 14.2857 QSOX2 0 genome.wustl.edu 37 9 139113754 139113754 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 139113754 139113754 C T SNP QSOX2 ENST00000358701 human ensembl 74_37 -1 known missense c.709 p.V237M 0.906 NULL pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold - no_errors QSOX2 HGNC ENSG00000165661 99 0 0 62 25 28.7356 SDCCAG3 0 genome.wustl.edu 37 9 139302298 139302298 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 139302298 139302298 C T SNP SDCCAG3 ENST00000357365 human ensembl 74_37 -1 known missense c.382 p.A128T 0.000 NULL NULL - no_errors SDCCAG3 HGNC ENSG00000165689 89 0 0 78 7 8.23529 PMPCA 0 genome.wustl.edu 37 9 139311661 139311661 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 139311661 139311661 G A SNP PMPCA ENST00000371717 human ensembl 74_37 +1 known missense c.892 p.A298T 0.923 pfam_Peptidase_M16_C pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors PMPCA HGNC ENSG00000165688 32 0 0 21 6 22.2222 SEC16A 0 genome.wustl.edu 37 9 139358156 139358156 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 139358156 139358156 G A SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known missense c.4483 p.R1495W 1.000 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 49 0 0 39 18 31.5789 NOTCH1 0 genome.wustl.edu 37 9 139391176 139391176 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 139391176 139391176 C T SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known missense c.7015 p.A2339T 0.961 pirsf_Notch 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 29 0 0 11 6 35.2941 NOTCH1 0 genome.wustl.edu 37 9 139397687 139397687 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 139397687 139397687 G A SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known missense c.5114 p.A1705V 0.999 pfam_Notch_NODP_dom,pirsf_Notch 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 23 0 0 16 4 20 NOTCH1 0 genome.wustl.edu 37 9 139407576 139407576 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 139407576 139407576 G A SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known silent c.2364 p.C788 1.000 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 67 0 0 36 13 26.5306 NOTCH1 0 genome.wustl.edu 37 9 139412321 139412321 + Nonsense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 139412321 139412321 G A SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known nonsense c.1324 p.Q442* 1.000 pfam_EG-like_dom,pfam_EGF-like_Ca-bd_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 42 0 0 16 10 38.4615 KIAA1984-AS1 0 genome.wustl.edu 37 9 139701355 139701355 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 139701355 139701355 G A SNP KIAA1984-AS1 ENST00000414656 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KIAA1984-AS1 HGNC ENSG00000228544 29 0 0 34 13 27.6596 ZMYND19 0 genome.wustl.edu 37 9 140481457 140481457 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 140481457 140481457 G A SNP ZMYND19 ENST00000298585 human ensembl 74_37 -1 known silent c.321 p.G107 1.000 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND19 HGNC ENSG00000165724 28 0 0 21 9 30 EHMT1 0 genome.wustl.edu 37 9 140672491 140672491 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 140672491 140672491 G A SNP EHMT1 ENST00000460843 human ensembl 74_37 +1 known missense c.2176 p.A726T 1.000 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 60 0 0 22 22 50 NFIB 0 genome.wustl.edu 37 9 14150263 14150263 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 14150263 14150263 C T SNP NFIB ENST00000397581 human ensembl 74_37 -1 known silent c.687 p.T229 0.630 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIB HGNC ENSG00000147862 309 0 0 247 17 6.43939 FREM1 0 genome.wustl.edu 37 9 14775838 14775838 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 14775838 14775838 G A SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known silent c.4809 p.G1603 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 71 0 0 48 4 7.69231 PSIP1 0 genome.wustl.edu 37 9 15472661 15472661 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 15472661 15472661 G A SNP PSIP1 ENST00000380733 human ensembl 74_37 -1 known missense c.946 p.R316C 1.000 NULL pfam_LEDGF,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom,prints_Treacle-like_TCS - no_errors PSIP1 HGNC ENSG00000164985 99 0 0 67 28 29.4737 CCDC171 0 genome.wustl.edu 37 9 15874641 15874641 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 15874641 15874641 C T SNP CCDC171 ENST00000380701 human ensembl 74_37 +1 known missense c.3580 p.P1194S 1.000 NULL superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 74 0 0 34 13 27.6596 BNC2 0 genome.wustl.edu 37 9 16552745 16552745 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 16552745 16552745 G A SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known missense c.452 p.T151M 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 53 0 0 39 15 27.7778 BNC2 0 genome.wustl.edu 37 9 16738415 16738415 + Missense_Mutation SNP T T G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 16738415 16738415 T G SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known missense c.72 p.Q24H 0.047 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 40 0 0 23 11 32.3529 ADAMTSL1 0 genome.wustl.edu 37 9 18681926 18681926 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 18681926 18681926 C T SNP ADAMTSL1 ENST00000327883 human ensembl 74_37 +1 known silent c.1458 p.C486 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL1 HGNC ENSG00000178031 314 0 0 238 70 22.7273 ADAMTSL1 0 genome.wustl.edu 37 9 18706803 18706803 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 18706803 18706803 C T SNP ADAMTSL1 ENST00000380548 human ensembl 74_37 +1 novel nonsense c.1633 p.R545* 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors ADAMTSL1 HGNC ENSG00000178031 14 0 0 10 5 33.3333 ADAMTSL1 0 genome.wustl.edu 37 9 18770654 18770654 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 18770654 18770654 C T SNP ADAMTSL1 ENST00000380548 human ensembl 74_37 +1 novel missense c.2272 p.R758C 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors ADAMTSL1 HGNC ENSG00000178031 33 0 0 21 7 25 HAUS6 0 genome.wustl.edu 37 9 19058813 19058813 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 19058813 19058813 G A SNP HAUS6 ENST00000380502 human ensembl 74_37 -1 known missense c.1952 p.S651F 0.071 NULL NULL - no_errors HAUS6 HGNC ENSG00000147874 113 0 0 90 6 6.25 DENND4C 0 genome.wustl.edu 37 9 19346603 19346603 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 19346603 19346603 G A SNP DENND4C ENST00000602925 human ensembl 74_37 +1 known missense c.3689 p.R1230H 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC ENSG00000137145 98 0 0 61 27 30.6818 RPS6 0 genome.wustl.edu 37 9 19379526 19379526 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 19379526 19379526 C T SNP RPS6 ENST00000380394 human ensembl 74_37 -1 known missense c.97 p.A33T 1.000 pfam_Ribosomal_S6e,pirsf_Ribosomal_S6_euk pfam_Ribosomal_S6e,pirsf_Ribosomal_S6_euk - no_errors RPS6 HGNC ENSG00000137154 62 0 0 34 5 12.8205 MLLT3 0 genome.wustl.edu 37 9 20448143 20448143 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 20448143 20448143 C T SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known missense c.398 p.R133K 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 129 0 0 130 7 5.10949 SMARCA2 0 genome.wustl.edu 37 9 2058432 2058432 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 2058432 2058432 C T SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known missense c.1489 p.R497W 0.995 pfam_Helicase/SANT-assoc_DNA-bd,smart_HAS_subgr,pfscan_Helicase/SANT-assoc_DNA-bd 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 149 0 0 103 36 25.8993 IFNB1 0 genome.wustl.edu 37 9 21077640 21077640 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 21077640 21077640 C T SNP IFNB1 ENST00000380232 human ensembl 74_37 -1 known missense c.229 p.A77T 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNB1 HGNC ENSG00000171855 155 0 0 122 8 6.15385 SMARCA2 0 genome.wustl.edu 37 9 2115922 2115922 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 2115922 2115922 C T SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known missense c.3557 p.A1186V 0.999 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,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 40 0 0 36 14 28 IFNA16 0 genome.wustl.edu 37 9 21217077 21217077 + Silent SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 21217077 21217077 G T SNP IFNA16 ENST00000380216 human ensembl 74_37 -1 known silent c.228 p.A76 0.153 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA16 HGNC ENSG00000147885 168 1 0.591716 104 41 28.2759 LRRC19 0 genome.wustl.edu 37 9 26997741 26997741 + Missense_Mutation SNP A A T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 26997741 26997741 A T SNP LRRC19 ENST00000380055 human ensembl 74_37 -1 known missense c.580 p.S194T 0.994 smart_Cys-rich_flank_reg_C smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC19 HGNC ENSG00000184434 64 0 0 52 4 7.14286 KCNV2 0 genome.wustl.edu 37 9 2719001 2719001 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 2719001 2719001 G A SNP KCNV2 ENST00000382082 human ensembl 74_37 +1 known missense c.1262 p.G421D 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNV2 HGNC ENSG00000168263 38 0 0 22 7 24.1379 KIAA0020 0 genome.wustl.edu 37 9 2811408 2811408 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 2811408 2811408 C T SNP KIAA0020 ENST00000397885 human ensembl 74_37 -1 known missense c.1588 p.A530T 1.000 pfam_CPL,superfamily_ARM-type_fold pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors KIAA0020 HGNC ENSG00000080608 181 0 0 115 38 24.8366 KIAA0020 0 genome.wustl.edu 37 9 2824797 2824797 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 2824797 2824797 G A SNP KIAA0020 ENST00000397885 human ensembl 74_37 -1 known missense c.1054 p.R352C 1.000 superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors KIAA0020 HGNC ENSG00000080608 14 0 0 9 3 25 KIAA0020 0 genome.wustl.edu 37 9 2829854 2829854 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 2829854 2829854 C T SNP KIAA0020 ENST00000397885 human ensembl 74_37 -1 known missense c.772 p.A258T 1.000 superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors KIAA0020 HGNC ENSG00000080608 177 0 0 121 62 33.8798 PTENP1 0 genome.wustl.edu 37 9 33675437 33675437 + RNA SNP T T A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 33675437 33675437 T A SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors PTENP1 HGNC ENSG00000237984 31 0 0 17 12 41.3793 UBAP1 0 genome.wustl.edu 37 9 34241362 34241362 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 34241362 34241362 G A SNP UBAP1 ENST00000545103 human ensembl 74_37 +1 known missense c.531 p.M177I 0.990 NULL superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP1 HGNC ENSG00000165006 118 0 0 81 22 21.3592 KIAA1161 0 genome.wustl.edu 37 9 34371727 34371727 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 34371727 34371727 G A SNP KIAA1161 ENST00000297625 human ensembl 74_37 -1 known silent c.1113 p.G371 0.998 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF - no_errors KIAA1161 HGNC ENSG00000164976 9 0 0 8 5 38.4615 DNAI1 0 genome.wustl.edu 37 9 34514714 34514714 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 34514714 34514714 G A SNP DNAI1 ENST00000242317 human ensembl 74_37 +1 known missense c.1795 p.A599T 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI1 HGNC ENSG00000122735 90 0 0 64 5 7.24638 C9orf131 0 genome.wustl.edu 37 9 35045333 35045333 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 35045333 35045333 C A SNP C9orf131 ENST00000312292 human ensembl 74_37 +1 known missense c.2707 p.P903T 0.000 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 203 1 0.490196 175 17 8.85417 FAM214B 0 genome.wustl.edu 37 9 35107927 35107927 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 35107927 35107927 G A SNP FAM214B ENST00000322813 human ensembl 74_37 -1 known silent c.345 p.S115 1.000 NULL NULL - no_errors FAM214B HGNC ENSG00000005238 47 0 0 37 4 9.7561 CREB3 0 genome.wustl.edu 37 9 35736398 35736398 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 35736398 35736398 G A SNP CREB3 ENST00000353704 human ensembl 74_37 +1 known missense c.791 p.R264H 0.996 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3 HGNC ENSG00000107175 88 0 0 55 7 11.2903 NPR2 0 genome.wustl.edu 37 9 35799719 35799719 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 35799719 35799719 C T SNP NPR2 ENST00000342694 human ensembl 74_37 +1 known silent c.978 p.G326 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 83 0 0 38 26 40.625 GLIPR2 0 genome.wustl.edu 37 9 36162402 36162402 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 36162402 36162402 C T SNP GLIPR2 ENST00000377960 human ensembl 74_37 +1 known silent c.348 p.G116 0.004 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors GLIPR2 HGNC ENSG00000122694 93 0 0 87 5 5.43478 SLC25A51 0 genome.wustl.edu 37 9 37888210 37888210 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 37888210 37888210 A G SNP SLC25A51 ENST00000242275 human ensembl 74_37 -1 known missense c.338 p.V113A 0.010 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A51 HGNC ENSG00000122696 149 0 0 106 45 29.8013 DOCK8 0 genome.wustl.edu 37 9 418150 418150 + Silent SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 418150 418150 G T SNP DOCK8 ENST00000453981 human ensembl 74_37 +1 known silent c.3783 p.L1261 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 147 1 0.675676 91 26 22.2222 SPATA6L 0 genome.wustl.edu 37 9 4625438 4625438 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 4625438 4625438 C T SNP SPATA6L ENST00000454239 human ensembl 74_37 -1 known silent c.558 p.A186 0.000 NULL NULL - no_errors SPATA6L HGNC ENSG00000106686 56 0 0 35 19 35.1852 AK3 0 genome.wustl.edu 37 9 4718478 4718478 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 4718478 4718478 C T SNP AK3 ENST00000381809 human ensembl 74_37 -1 known silent c.504 p.T168 0.030 pfam_Adenylate_kin,superfamily_P-loop_NTPase,prints_Adenylate_kin,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 82 0 0 63 20 24.0964 RCL1 0 genome.wustl.edu 37 9 4844593 4844593 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 4844593 4844593 C T SNP RCL1 ENST00000381750 human ensembl 74_37 +1 known missense c.779 p.A260V 1.000 pfam_RNA3'_phos_cyclase_dom,pfam_RNA3'-term_phos_cycl_insert,pirsf_RNA3'_term_phos_cyc,tigrfam_RNA3'_term_phos_cyc_type_2 pfam_RNA3'_phos_cyclase_dom,pfam_RNA3'-term_phos_cycl_insert,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,pirsf_RNA3'_term_phos_cyc,tigrfam_RNA3'_term_phos_cyc_type_2 - no_errors RCL1 HGNC ENSG00000120158 105 0 0 56 16 22.2222 UHRF2 0 genome.wustl.edu 37 9 6504628 6504628 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 6504628 6504628 C T SNP UHRF2 ENST00000276893 human ensembl 74_37 +1 known silent c.2199 p.C733 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_SRA_YDG,pfam_DUF3590,pfam_Ubiquitin_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Ubiquitin_dom,smart_Znf_PHD,smart_Znf_RING,smart_SRA_YDG,pfscan_SRA_YDG,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup - no_errors UHRF2 HGNC ENSG00000147854 38 0 0 21 7 25 LOC100996870 0 genome.wustl.edu 37 9 66466422 66466422 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 66466422 66466422 C T SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 27 0 0 28 6 17.6471 FLJ20444 0 genome.wustl.edu 37 9 66513785 66513785 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 66513785 66513785 C T SNP FLJ20444 ENST00000586625 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors RP11-262H14.3 Clone_based_vega_gene ENSG00000234665 40 0 0 21 3 12.5 CBWD5 0 genome.wustl.edu 37 9 70484465 70484465 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 70484465 70484465 G A SNP CBWD5 ENST00000382405 human ensembl 74_37 -1 known missense c.248 p.A83V 1.000 pfam_CobW/HypB/UreG_dom,superfamily_P-loop_NTPase pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_P-loop_NTPase,superfamily_Cbl_biosynth_CobW-like_C,smart_Cbl_biosynth_CobW-like_C - no_errors CBWD5 HGNC ENSG00000147996 33 0 0 28 5 15.1515 APBA1 0 genome.wustl.edu 37 9 72131639 72131639 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 72131639 72131639 G A SNP APBA1 ENST00000265381 human ensembl 74_37 -1 known missense c.488 p.A163V 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 16 0 0 3 3 50 SMC5 0 genome.wustl.edu 37 9 72933542 72933542 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 72933542 72933542 C T SNP SMC5 ENST00000361138 human ensembl 74_37 +1 known missense c.1919 p.A640V 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase - no_errors SMC5 HGNC ENSG00000198887 140 0 0 101 28 21.7054 TRPM3 0 genome.wustl.edu 37 9 73151051 73151051 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 73151051 73151051 C T SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known missense c.5023 p.A1675T 0.706 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 339 0 0 278 67 19.4203 RORB 0 genome.wustl.edu 37 9 77286710 77286710 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 77286710 77286710 G A SNP RORB ENST00000396204 human ensembl 74_37 +1 known missense c.1150 p.A384T 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_ThyrH_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,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,pfscan_Znf_hrmn_rcpt - no_errors RORB HGNC ENSG00000198963 74 0 0 53 16 23.1884 TRPM6 0 genome.wustl.edu 37 9 77415329 77415329 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 77415329 77415329 C T SNP TRPM6 ENST00000451710 human ensembl 74_37 -1 known silent c.2079 p.T693 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 98 0 0 84 5 5.61798 PCSK5 0 genome.wustl.edu 37 9 78686647 78686647 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 78686647 78686647 C T SNP PCSK5 ENST00000545128 human ensembl 74_37 +1 known nonsense c.727 p.R243* 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 155 0 0 108 20 15.625 PCSK5 0 genome.wustl.edu 37 9 78969113 78969113 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 78969113 78969113 C T SNP PCSK5 ENST00000545128 human ensembl 74_37 +1 known silent c.5151 p.C1717 1.000 superfamily_Growth_fac_rcpt_N_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 13 0 0 10 4 28.5714 PRUNE2 0 genome.wustl.edu 37 9 79325763 79325763 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 79325763 79325763 G A SNP PRUNE2 ENST00000428286 human ensembl 74_37 -1 known missense c.350 p.A117V 0.072 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 48 0 0 36 4 10 VPS13A 0 genome.wustl.edu 37 9 79910752 79910752 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 79910752 79910752 C T SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known nonsense c.3802 p.R1268* 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 67 0 0 46 18 28.125 TLE4 0 genome.wustl.edu 37 9 82227576 82227576 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 82227576 82227576 G T SNP TLE4 ENST00000376520 human ensembl 74_37 +1 known missense c.258 p.E86D 1.000 pfam_Groucho/TLE_N pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE4 HGNC ENSG00000106829 102 0 0 76 19 20 UBQLN1 0 genome.wustl.edu 37 9 86276800 86276800 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 86276800 86276800 C T SNP UBQLN1 ENST00000376395 human ensembl 74_37 -1 known missense c.1672 p.G558R 1.000 pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN1 HGNC ENSG00000135018 118 0 0 114 9 7.31707 HNRNPK 0 genome.wustl.edu 37 9 86585141 86585141 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 86585141 86585141 G A SNP HNRNPK ENST00000376263 human ensembl 74_37 -1 known missense c.1297 p.R433W 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_ROK_N,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HNRNPK HGNC ENSG00000165119 76 0 0 75 4 5.06329 NTRK2 0 genome.wustl.edu 37 9 87486727 87486727 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 87486727 87486727 G A SNP NTRK2 ENST00000304053 human ensembl 74_37 +1 known missense c.1657 p.A553T 1.000 NULL pfam_Ig_I-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2 - no_errors NTRK2 HGNC ENSG00000148053 193 0 0 129 48 27.1186 DAPK1 0 genome.wustl.edu 37 9 90255318 90255318 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 90255318 90255318 T C SNP DAPK1 ENST00000469640 human ensembl 74_37 +1 known silent c.735 p.S245 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_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 76 0 0 55 23 29.4872 SPATA31E1 0 genome.wustl.edu 37 9 90502104 90502104 + Missense_Mutation SNP A A T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 90502104 90502104 A T SNP SPATA31E1 ENST00000325643 human ensembl 74_37 +1 known missense c.2702 p.N901I 0.000 NULL NULL - no_errors SPATA31E1 HGNC ENSG00000177992 43 0 0 26 13 33.3333 SPATA31C1 0 genome.wustl.edu 37 9 90534188 90534188 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 90534188 90534188 C T SNP SPATA31C1 ENST00000602681 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors SPATA31C1 HGNC ENSG00000230246 110 0 0 66 21 24.1379 CDK20 0 genome.wustl.edu 37 9 90585726 90585726 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 90585726 90585726 G A SNP CDK20 ENST00000325303 human ensembl 74_37 -1 known silent c.465 p.D155 0.949 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 CDK20 HGNC ENSG00000156345 27 0 0 13 5 27.7778 SHC3 0 genome.wustl.edu 37 9 91628425 91628425 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 91628425 91628425 G A SNP SHC3 ENST00000375835 human ensembl 74_37 -1 known silent c.1722 p.S574 0.708 smart_SH2,pfscan_SH2 pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC3 HGNC ENSG00000148082 77 0 0 54 16 22.8571 SEMA4D 0 genome.wustl.edu 37 9 92011708 92011708 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 92011708 92011708 C T SNP SEMA4D ENST00000356444 human ensembl 74_37 -1 known missense c.358 p.A120T 0.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4D HGNC ENSG00000187764 31 0 0 18 4 18.1818 AUH 0 genome.wustl.edu 37 9 93983211 93983211 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 93983211 93983211 G A SNP AUH ENST00000375731 human ensembl 74_37 -1 known missense c.719 p.A240V 0.996 pfam_Crotonase_core_superfam pfam_Crotonase_core_superfam - no_errors AUH HGNC ENSG00000148090 96 0 0 53 24 31.1688 IARS 0 genome.wustl.edu 37 9 95007334 95007334 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 95007334 95007334 G A SNP IARS ENST00000375643 human ensembl 74_37 -1 known silent c.2811 p.G937 0.998 NULL pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS HGNC ENSG00000196305 88 0 0 56 15 21.1268 CENPP 0 genome.wustl.edu 37 9 95142122 95142122 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 95142122 95142122 G A SNP CENPP ENST00000375587 human ensembl 74_37 +1 known missense c.545 p.R182H 0.011 NULL NULL - no_errors CENPP HGNC ENSG00000188312 72 0 0 73 5 6.41026 BICD2 0 genome.wustl.edu 37 9 95481525 95481525 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 95481525 95481525 C T SNP BICD2 ENST00000356884 human ensembl 74_37 -1 known missense c.1402 p.A468T 0.021 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC ENSG00000185963 44 0 0 27 10 27.027 ZNF484 0 genome.wustl.edu 37 9 95610226 95610226 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 95610226 95610226 G A SNP ZNF484 ENST00000395506 human ensembl 74_37 -1 known silent c.849 p.C283 0.805 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 ZNF484 HGNC ENSG00000127081 110 0 0 83 6 6.74157 ENSG00000226668 0 genome.wustl.edu 37 9 95644872 95644872 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 95644872 95644872 C T SNP ENSG00000226668 ENST00000411450 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-526D8.7 Clone_based_vega_gene ENSG00000226668 39 0 0 38 13 25.4902 ENSG00000226668 0 genome.wustl.edu 37 9 95647729 95647729 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 95647729 95647729 G A SNP ENSG00000226668 ENST00000446878 human ensembl 74_37 +1 putative rna NULL NULL 0.019 - - - no_errors RP11-526D8.7 Clone_based_vega_gene ENSG00000226668 170 0 0 138 48 25.8065 WNK2 0 genome.wustl.edu 37 9 96009888 96009888 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 96009888 96009888 G A SNP WNK2 ENST00000297954 human ensembl 74_37 +1 known missense c.1606 p.V536M 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK2 HGNC ENSG00000165238 19 0 0 8 6 42.8571 C9orf129 0 genome.wustl.edu 37 9 96081439 96081439 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 96081439 96081439 C T SNP C9orf129 ENST00000375419 human ensembl 74_37 -1 known missense c.383 p.G128E 1.000 NULL NULL - no_errors C9orf129 HGNC ENSG00000204352 64 0 0 54 17 23.9437 FAM120A 0 genome.wustl.edu 37 9 96324555 96324555 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 96324555 96324555 G A SNP FAM120A ENST00000333936 human ensembl 74_37 +1 known missense c.3098 p.G1033D 1.000 NULL NULL - no_errors FAM120A HGNC ENSG00000048828 76 0 0 37 17 31.4815 PHF2 0 genome.wustl.edu 37 9 96415473 96415473 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 96415473 96415473 C T SNP PHF2 ENST00000359246 human ensembl 74_37 +1 known silent c.615 p.F205 0.943 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 46 0 0 41 12 22.6415 ZNF510 0 genome.wustl.edu 37 9 99522503 99522503 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 99522503 99522503 G A SNP ZNF510 ENST00000223428 human ensembl 74_37 -1 known silent c.609 p.C203 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 ZNF510 HGNC ENSG00000081386 76 0 0 57 6 9.52381 NUTM2G 0 genome.wustl.edu 37 9 99700170 99700170 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 99700170 99700170 G A SNP NUTM2G ENST00000372322 human ensembl 74_37 +1 known missense c.1327 p.E443K 0.845 NULL NULL - no_errors NUTM2G HGNC ENSG00000188152 109 0 0 62 18 22.5 MT-RNR2 0 genome.wustl.edu 37 MT 2076 2076 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 MT 2076 2076 C T SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 688 2 0.289855 868 65 6.96677 NOX1 0 genome.wustl.edu 37 X 100105262 100105262 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 100105262 100105262 C T SNP NOX1 ENST00000372966 human ensembl 74_37 -1 known nonsense c.1011 p.W337* 1.000 pfam_FAD-bd_8,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX1 HGNC ENSG00000007952 36 0 0 29 4 12.1212 TRMT2B 0 genome.wustl.edu 37 X 100297067 100297067 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 100297067 100297067 C A SNP TRMT2B ENST00000372935 human ensembl 74_37 -1 known missense c.212 p.S71I 0.018 NULL pfam_U5_MeTrfase,pfam_Small_mtfrase_dom - no_errors TRMT2B HGNC ENSG00000188917 54 0 0 51 8 13.5593 DRP2 0 genome.wustl.edu 37 X 100505442 100505442 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 100505442 100505442 G A SNP DRP2 ENST00000395209 human ensembl 74_37 +1 known missense c.1571 p.S524N 1.000 pfam_EF-hand_dom_typ2,pirsf_Dystrophin-related_2 pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DRP2 HGNC ENSG00000102385 47 0 0 29 5 14.7059 WWC3 0 genome.wustl.edu 37 X 10085205 10085205 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 10085205 10085205 G A SNP WWC3 ENST00000380861 human ensembl 74_37 +1 known missense c.1106 p.R369H 0.998 NULL superfamily_C2_dom - no_errors WWC3 HGNC ENSG00000047644 24 0 0 4 14 77.7778 ARMCX3 0 genome.wustl.edu 37 X 100879869 100879869 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 100879869 100879869 C T SNP ARMCX3 ENST00000467808 human ensembl 74_37 +1 known rna NULL NULL 0.337 - - - no_errors ARMCX3 HGNC ENSG00000102401 13 0 0 5 11 68.75 WWC3 0 genome.wustl.edu 37 X 10092342 10092342 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 10092342 10092342 G A SNP WWC3 ENST00000380861 human ensembl 74_37 +1 known missense c.1789 p.A597T 0.000 superfamily_C2_dom superfamily_C2_dom - no_errors WWC3 HGNC ENSG00000047644 44 0 0 44 9 16.9811 NXF3 0 genome.wustl.edu 37 X 102339721 102339721 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 102339721 102339721 C T SNP NXF3 ENST00000395065 human ensembl 74_37 -1 known missense c.119 p.G40D 0.001 NULL pfam_Tap_RNA-bd,pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF3 HGNC ENSG00000147206 126 0 0 127 15 10.5634 NRK 0 genome.wustl.edu 37 X 105178303 105178303 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 105178303 105178303 G A SNP NRK ENST00000428173 human ensembl 74_37 +1 known silent c.3369 p.P1123 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 55 0 0 8 39 82.9787 MID1 0 genome.wustl.edu 37 X 10535114 10535114 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 10535114 10535114 G A SNP MID1 ENST00000317552 human ensembl 74_37 -1 known silent c.474 p.G158 1.000 smart_Znf_B-box pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors MID1 HGNC ENSG00000101871 42 0 0 20 21 51.2195 MUM1L1 0 genome.wustl.edu 37 X 105450135 105450135 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 105450135 105450135 C T SNP MUM1L1 ENST00000337685 human ensembl 74_37 +1 known missense c.710 p.A237V 0.000 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MUM1L1 HGNC ENSG00000157502 36 0 0 19 5 20.8333 TSC22D3 0 genome.wustl.edu 37 X 106965110 106965110 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 106965110 106965110 C T SNP TSC22D3 ENST00000372382 human ensembl 74_37 -1 putative missense c.29 p.S10N 1.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D3 HGNC ENSG00000157514 10 0 0 2 4 66.6667 PSMD10 0 genome.wustl.edu 37 X 107331059 107331059 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 107331059 107331059 G A SNP PSMD10 ENST00000217958 human ensembl 74_37 -1 known silent c.384 p.G128 0.052 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 PSMD10 HGNC ENSG00000101843 87 0 0 52 48 48 COL4A6 0 genome.wustl.edu 37 X 107422584 107422584 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 107422584 107422584 C T SNP COL4A6 ENST00000372216 human ensembl 74_37 -1 known missense c.2219 p.S740N 0.011 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 31 0 0 17 14 45.1613 GUCY2F 0 genome.wustl.edu 37 X 108691393 108691393 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 108691393 108691393 G A SNP GUCY2F ENST00000218006 human ensembl 74_37 -1 known missense c.1474 p.R492C 0.494 NULL 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 38 0 0 19 16 45.7143 GUCY2F 0 genome.wustl.edu 37 X 108719095 108719095 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 108719095 108719095 T C SNP GUCY2F ENST00000218006 human ensembl 74_37 -1 known missense c.71 p.H24R 0.044 NULL 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 78 0 0 71 6 7.79221 ACSL4 0 genome.wustl.edu 37 X 108887403 108887403 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 108887403 108887403 C T SNP ACSL4 ENST00000340800 human ensembl 74_37 -1 known missense c.1991 p.R664Q 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSL4 HGNC ENSG00000068366 26 0 0 9 12 57.1429 RGAG1 0 genome.wustl.edu 37 X 109695400 109695400 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 109695400 109695400 G T SNP RGAG1 ENST00000465301 human ensembl 74_37 +1 known missense c.1555 p.A519S 0.011 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 163 0 0 77 90 53.8922 ZCCHC16 0 genome.wustl.edu 37 X 111698834 111698834 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 111698834 111698834 G A SNP ZCCHC16 ENST00000340433 human ensembl 74_37 +1 known missense c.878 p.C293Y 1.000 superfamily_Znf_CCHC,pfscan_Znf_CCHC superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC16 HGNC ENSG00000187823 51 0 0 46 7 13.2075 LUZP4 0 genome.wustl.edu 37 X 114536676 114536676 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 114536676 114536676 C T SNP LUZP4 ENST00000371920 human ensembl 74_37 +1 known missense c.211 p.R71C 0.000 NULL NULL - no_errors LUZP4 HGNC ENSG00000102021 200 0 0 95 106 52.7363 LUZP4 0 genome.wustl.edu 37 X 114540908 114540908 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 114540908 114540908 C T SNP LUZP4 ENST00000371920 human ensembl 74_37 +1 known nonsense c.481 p.R161* 0.000 NULL NULL - no_errors LUZP4 HGNC ENSG00000102021 95 0 0 55 55 50 PLS3 0 genome.wustl.edu 37 X 114877715 114877715 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 114877715 114877715 A G SNP PLS3 ENST00000355899 human ensembl 74_37 +1 known missense c.1078 p.S360G 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors PLS3 HGNC ENSG00000102024 79 0 0 32 37 53.6232 AGTR2 0 genome.wustl.edu 37 X 115303556 115303556 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 115303556 115303556 C T SNP AGTR2 ENST00000371906 human ensembl 74_37 +1 known missense c.23 p.A8V 0.012 prints_ATII_AT2_rcpt pfam_GPCR_Rhodpsn,prints_ATII_AT2_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt,prints_Brdyknn_rcpt,prints_Chemokine_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors AGTR2 HGNC ENSG00000180772 63 0 0 44 10 18.5185 DOCK11 0 genome.wustl.edu 37 X 117722426 117722426 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 117722426 117722426 C T SNP DOCK11 ENST00000276202 human ensembl 74_37 +1 known silent c.2031 p.D677 0.124 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 87 0 0 34 50 59.5238 DOCK11 0 genome.wustl.edu 37 X 117773400 117773400 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 117773400 117773400 T C SNP DOCK11 ENST00000276202 human ensembl 74_37 +1 known missense c.4004 p.V1335A 0.973 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 44 0 0 41 8 16.3265 NKRF 0 genome.wustl.edu 37 X 118723342 118723342 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 118723342 118723342 G A SNP NKRF ENST00000542113 human ensembl 74_37 -1 known silent c.2091 p.Y697 0.947 NULL pfam_G_patch_dom,pfam_R3H_ss-bd,smart_dsRNA-bd_dom,smart_G_patch_dom,smart_R3H_ss-bd,pfscan_G_patch_dom,pfscan_R3H_ss-bd - no_errors NKRF HGNC ENSG00000186416 30 0 0 44 7 13.7255 TMEM255A 0 genome.wustl.edu 37 X 119419030 119419030 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 119419030 119419030 C T SNP TMEM255A ENST00000309720 human ensembl 74_37 -1 known missense c.536 p.R179H 1.000 NULL NULL - no_errors TMEM255A HGNC ENSG00000125355 102 0 0 78 28 26.4151 ATP1B4 0 genome.wustl.edu 37 X 119504981 119504981 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 119504981 119504981 G A SNP ATP1B4 ENST00000218008 human ensembl 74_37 +1 known missense c.478 p.A160T 1.000 pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta - no_errors ATP1B4 HGNC ENSG00000101892 48 0 0 60 10 14.2857 C1GALT1C1 0 genome.wustl.edu 37 X 119760637 119760637 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 119760637 119760637 C T SNP C1GALT1C1 ENST00000304661 human ensembl 74_37 -1 known missense c.385 p.A129T 1.000 NULL NULL - no_errors C1GALT1C1 HGNC ENSG00000171155 61 0 0 58 7 10.7692 GRIA3 0 genome.wustl.edu 37 X 122537363 122537363 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 122537363 122537363 C T SNP GRIA3 ENST00000264357 human ensembl 74_37 +1 known missense c.1286 p.T429I 1.000 smart_Iontro_glu_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 95 0 0 118 8 6.34921 STAG2 0 genome.wustl.edu 37 X 123185030 123185030 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 123185030 123185030 G A SNP STAG2 ENST00000218089 human ensembl 74_37 +1 known silent c.1077 p.E359 1.000 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG2 HGNC ENSG00000101972 35 0 0 16 16 50 STAG2 0 genome.wustl.edu 37 X 123229279 123229279 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 123229279 123229279 G A SNP STAG2 ENST00000218089 human ensembl 74_37 +1 known missense c.3763 p.A1255T 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG2 HGNC ENSG00000101972 53 0 0 32 25 43.8596 TENM1 0 genome.wustl.edu 37 X 123514894 123514894 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 123514894 123514894 G A SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.7691 p.A2564V 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 78 0 0 54 5 8.47458 TENM1 0 genome.wustl.edu 37 X 123517988 123517988 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 123517988 123517988 C T SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.6793 p.A2265T 0.960 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 70 0 0 46 36 43.9024 TENM1 0 genome.wustl.edu 37 X 123539084 123539084 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 123539084 123539084 C T SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.5188 p.D1730N 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 39 0 0 28 7 20 TENM1 0 genome.wustl.edu 37 X 123556366 123556366 + Silent SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 123556366 123556366 G T SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known silent c.4227 p.R1409 0.920 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 40 0 0 31 32 50.7937 DCAF12L2 0 genome.wustl.edu 37 X 125299778 125299778 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 125299778 125299778 G A SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known missense c.130 p.R44W 0.733 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 11 0 0 10 4 28.5714 DCAF12L1 0 genome.wustl.edu 37 X 125686328 125686328 + Silent SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 125686328 125686328 C A SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known silent c.264 p.T88 0.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 23 0 0 6 11 64.7059 FRMPD4 0 genome.wustl.edu 37 X 12712493 12712493 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 12712493 12712493 T C SNP FRMPD4 ENST00000380682 human ensembl 74_37 +1 known missense c.853 p.F285L 1.000 smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom - no_errors FRMPD4 HGNC ENSG00000169933 43 0 0 23 14 37.8378 FRMPD4 0 genome.wustl.edu 37 X 12736508 12736508 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 12736508 12736508 C T SNP FRMPD4 ENST00000380682 human ensembl 74_37 +1 known missense c.3563 p.A1188V 0.919 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom - no_errors FRMPD4 HGNC ENSG00000169933 99 0 0 90 14 13.4615 OCRL 0 genome.wustl.edu 37 X 128696607 128696607 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 128696607 128696607 T C SNP OCRL ENST00000371113 human ensembl 74_37 +1 known missense c.1088 p.V363A 0.998 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors OCRL HGNC ENSG00000122126 48 0 0 83 8 8.79121 OCRL 0 genome.wustl.edu 37 X 128718327 128718327 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 128718327 128718327 G A SNP OCRL ENST00000371113 human ensembl 74_37 +1 known missense c.2122 p.D708N 1.000 superfamily_Rho_GTPase_activation_prot pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors OCRL HGNC ENSG00000122126 51 0 0 61 6 8.95522 TLR7 0 genome.wustl.edu 37 X 12905875 12905875 + Nonsense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 12905875 12905875 C T SNP TLR7 ENST00000380659 human ensembl 74_37 +1 known nonsense c.2248 p.R750* 0.892 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR7 HGNC ENSG00000196664 73 0 0 27 28 50.9091 RBMX2 0 genome.wustl.edu 37 X 129546424 129546424 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 129546424 129546424 C T SNP RBMX2 ENST00000305536 human ensembl 74_37 +1 known missense c.571 p.R191C 0.037 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMX2 HGNC ENSG00000134597 82 0 0 54 22 28.9474 RBMX2 0 genome.wustl.edu 37 X 129546773 129546773 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 129546773 129546773 G A SNP RBMX2 ENST00000305536 human ensembl 74_37 +1 known missense c.920 p.R307H 0.008 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMX2 HGNC ENSG00000134597 35 0 0 21 19 47.5 IGSF1 0 genome.wustl.edu 37 X 130415705 130415705 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 130415705 130415705 C T SNP IGSF1 ENST00000370903 human ensembl 74_37 -1 known missense c.1460 p.R487H 0.009 smart_Ig_sub,smart_Ig_sub2 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF1 HGNC ENSG00000147255 50 0 0 49 6 10.9091 MOSPD1 0 genome.wustl.edu 37 X 134033217 134033217 + RNA SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 134033217 134033217 G A SNP MOSPD1 ENST00000462060 human ensembl 74_37 -1 known rna NULL NULL 0.020 - - - no_errors MOSPD1 HGNC ENSG00000101928 78 0 0 86 15 14.8515 ZNF75D 0 genome.wustl.edu 37 X 134421741 134421741 + Silent SNP A A C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 134421741 134421741 A C SNP ZNF75D ENST00000370766 human ensembl 74_37 -1 known silent c.861 p.P287 0.000 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,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 ZNF75D HGNC ENSG00000186376 44 0 0 34 11 24.4444 HTATSF1 0 genome.wustl.edu 37 X 135593613 135593613 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 135593613 135593613 T C SNP HTATSF1 ENST00000218364 human ensembl 74_37 +1 known missense c.1709 p.L570P 0.001 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HTATSF1 HGNC ENSG00000102241 85 0 0 83 10 10.7527 OFD1 0 genome.wustl.edu 37 X 13786260 13786260 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 13786260 13786260 G A SNP OFD1 ENST00000340096 human ensembl 74_37 +1 known missense c.2845 p.D949N 0.000 NULL superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors OFD1 HGNC ENSG00000046651 30 0 0 15 18 54.5455 F9 0 genome.wustl.edu 37 X 138644001 138644001 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 138644001 138644001 C T SNP F9 ENST00000218099 human ensembl 74_37 +1 known missense c.1157 p.T386I 0.987 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_FX,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain - no_errors F9 HGNC ENSG00000101981 79 0 0 82 13 13.6842 ATP11C 0 genome.wustl.edu 37 X 138844225 138844225 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 138844225 138844225 G A SNP ATP11C ENST00000327569 human ensembl 74_37 -1 known silent c.2544 p.S848 0.770 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11C HGNC ENSG00000101974 120 0 0 72 51 41.4634 CSF2RA 0 genome.wustl.edu 37 X 1422885 1422885 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 1422885 1422885 G A SNP CSF2RA ENST00000417535 human ensembl 74_37 +1 known missense c.1118 p.G373D 0.000 NULL pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors CSF2RA HGNC ENSG00000198223 253 0 0 160 11 6.43275 MIR891A 0 genome.wustl.edu 37 X 145109366 145109366 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 145109366 145109366 C T SNP MIR891A ENST00000401237 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors MIR891A HGNC ENSG00000216056 38 0 0 29 13 30.9524 IL3RA 0 genome.wustl.edu 37 X 1471219 1471219 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 1471219 1471219 C T SNP IL3RA ENST00000331035 human ensembl 74_37 +1 known missense c.436 p.R146C 0.000 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors IL3RA HGNC ENSG00000185291 274 0 0 85 62 42.1769 IDS 0 genome.wustl.edu 37 X 148564576 148564576 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 148564576 148564576 A G SNP IDS ENST00000340855 human ensembl 74_37 -1 known missense c.1354 p.Y452H 0.000 superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors IDS HGNC ENSG00000010404 61 0 0 57 4 6.55738 MAGEA8 0 genome.wustl.edu 37 X 149013852 149013852 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 149013852 149013852 C A SNP MAGEA8 ENST00000286482 human ensembl 74_37 +1 known missense c.806 p.P269H 0.067 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA8 HGNC ENSG00000156009 108 0 0 59 62 51.2397 MTMR1 0 genome.wustl.edu 37 X 149901140 149901140 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 149901140 149901140 G A SNP MTMR1 ENST00000445323 human ensembl 74_37 +1 known missense c.1018 p.A340T 1.000 pfam_Myotubularin-like_Pase_dom pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR1 HGNC ENSG00000063601 27 0 0 21 18 46.1538 SLC25A6 0 genome.wustl.edu 37 X 1505554 1505554 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 1505554 1505554 G A SNP SLC25A6 ENST00000381401 human ensembl 74_37 -1 known missense c.838 p.R280W 0.773 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,prints_Mit_uncoupling - no_errors SLC25A6 HGNC ENSG00000169100 120 0 0 46 21 31.3433 GABRE 0 genome.wustl.edu 37 X 151123859 151123859 + Missense_Mutation SNP G G T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 151123859 151123859 G T SNP GABRE ENST00000370328 human ensembl 74_37 -1 known missense c.1118 p.A373D 0.034 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAe_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAe_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRE HGNC ENSG00000102287 79 0 0 60 18 23.0769 GABRA3 0 genome.wustl.edu 37 X 151358341 151358341 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 151358341 151358341 G A SNP GABRA3 ENST00000370314 human ensembl 74_37 -1 known missense c.1004 p.A335V 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa3_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA3 HGNC ENSG00000011677 44 0 0 38 14 26.9231 GABRQ 0 genome.wustl.edu 37 X 151821085 151821085 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 151821085 151821085 C T SNP GABRQ ENST00000370306 human ensembl 74_37 +1 known missense c.1240 p.L414F 0.075 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAt_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABAAb_rcpt,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRQ HGNC ENSG00000147402 41 0 0 22 10 31.25 CETN2 0 genome.wustl.edu 37 X 151998218 151998218 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 151998218 151998218 C T SNP CETN2 ENST00000370277 human ensembl 74_37 -1 known silent c.90 p.K30 0.769 pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CETN2 HGNC ENSG00000147400 83 0 0 48 9 15.7895 NSDHL 0 genome.wustl.edu 37 X 152034374 152034374 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 152034374 152034374 C T SNP NSDHL ENST00000370274 human ensembl 74_37 +1 known silent c.555 p.G185 0.000 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_NmrA - no_errors NSDHL HGNC ENSG00000147383 57 0 0 57 10 14.9254 ZNF275 0 genome.wustl.edu 37 X 152613249 152613249 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 152613249 152613249 G A SNP ZNF275 ENST00000440091 human ensembl 74_37 +1 known missense c.1196 p.R399H 0.997 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 ZNF275 HGNC ENSG00000063587 11 0 0 8 4 33.3333 IDH3G 0 genome.wustl.edu 37 X 153053556 153053556 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 153053556 153053556 C T SNP IDH3G ENST00000217901 human ensembl 74_37 -1 known silent c.381 p.S127 0.577 pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD - no_errors IDH3G HGNC ENSG00000067829 155 0 0 84 63 42.8571 IRAK1 0 genome.wustl.edu 37 X 153282484 153282484 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 153282484 153282484 C T SNP IRAK1 ENST00000369980 human ensembl 74_37 -1 known missense c.944 p.R315Q 0.979 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 39 0 0 20 21 51.2195 PLXNA3 0 genome.wustl.edu 37 X 153689070 153689070 + Missense_Mutation SNP T T G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 153689070 153689070 T G SNP PLXNA3 ENST00000369682 human ensembl 74_37 +1 known missense c.547 p.S183A 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA3 HGNC ENSG00000130827 47 0 0 59 5 7.8125 PLXNA3 0 genome.wustl.edu 37 X 153697254 153697254 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 153697254 153697254 C T SNP PLXNA3 ENST00000369682 human ensembl 74_37 +1 known missense c.4376 p.A1459V 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot 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 PLXNA3 HGNC ENSG00000130827 41 0 0 30 17 36.1702 H2AFB1 0 genome.wustl.edu 37 X 154113536 154113536 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 154113536 154113536 C T SNP H2AFB1 ENST00000354461 human ensembl 74_37 +1 known missense c.212 p.A71V 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors H2AFB1 HGNC ENSG00000198082 53 0 0 31 24 43.6364 F8 0 genome.wustl.edu 37 X 154159120 154159120 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 154159120 154159120 T C SNP F8 ENST00000360256 human ensembl 74_37 -1 known missense c.2945 p.N982S 0.003 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 55 0 0 70 5 6.66667 TMLHE 0 genome.wustl.edu 37 X 154754277 154754277 + Missense_Mutation SNP A A T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 154754277 154754277 A T SNP TMLHE ENST00000334398 human ensembl 74_37 -1 known missense c.198 p.N66K 0.470 pfam_DUF971 pfam_Taurine_dOase,pfam_DUF971,tigrfam_Trimethyllysine_dOase - no_errors TMLHE HGNC ENSG00000185973 77 0 0 67 18 21.1765 SPRY3 0 genome.wustl.edu 37 X 155003998 155003998 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 155003998 155003998 C T SNP SPRY3 ENST00000302805 human ensembl 74_37 +1 known silent c.465 p.C155 0.893 pfam_Sprouty pfam_Sprouty - no_errors SPRY3 HGNC ENSG00000168939 79 0 0 59 11 15.7143 NHS 0 genome.wustl.edu 37 X 17746817 17746817 + Missense_Mutation SNP C C A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 17746817 17746817 C A SNP NHS ENST00000380060 human ensembl 74_37 +1 known missense c.4208 p.S1403Y 1.000 NULL NULL - no_errors NHS HGNC ENSG00000188158 84 0 0 41 27 39.7059 CDKL5 0 genome.wustl.edu 37 X 18668576 18668576 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 18668576 18668576 C T SNP CDKL5 ENST00000379989 human ensembl 74_37 +1 known silent c.2844 p.C948 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDKL5 HGNC ENSG00000008086 56 0 0 47 4 7.84314 PPEF1 0 genome.wustl.edu 37 X 18824564 18824564 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 18824564 18824564 G A SNP PPEF1 ENST00000361511 human ensembl 74_37 +1 known missense c.1295 p.S432N 1.000 smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr-Pase_EF-hand_contain,prints_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,pfam_EF_hand_dom,pfam_PPP_dom,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_dom,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_hand_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPEF1 HGNC ENSG00000086717 114 0 0 79 11 12.2222 PHKA2 0 genome.wustl.edu 37 X 18927018 18927018 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 18927018 18927018 T C SNP PHKA2 ENST00000379942 human ensembl 74_37 -1 known missense c.2261 p.D754G 1.000 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 148 0 0 141 10 6.62252 PDHA1 0 genome.wustl.edu 37 X 19372612 19372612 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 19372612 19372612 C T SNP PDHA1 ENST00000379806 human ensembl 74_37 +1 known missense c.628 p.P210S 1.000 pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA1 HGNC ENSG00000131828 59 0 0 45 6 11.7647 SH3KBP1 0 genome.wustl.edu 37 X 19560086 19560086 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 19560086 19560086 G A SNP SH3KBP1 ENST00000397821 human ensembl 74_37 -1 known missense c.1849 p.R617C 0.989 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC ENSG00000147010 62 0 0 11 42 79.2453 SH3KBP1 0 genome.wustl.edu 37 X 19649997 19649997 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 19649997 19649997 G A SNP SH3KBP1 ENST00000397821 human ensembl 74_37 -1 known silent c.882 p.V294 0.999 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC ENSG00000147010 67 0 0 54 8 12.9032 SH3KBP1 0 genome.wustl.edu 37 X 19705743 19705743 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 19705743 19705743 C T SNP SH3KBP1 ENST00000379697 human ensembl 74_37 -1 known missense c.644 p.R215H 1.000 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC ENSG00000147010 79 0 0 26 42 61.7647 PTCHD1 0 genome.wustl.edu 37 X 23397938 23397938 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 23397938 23397938 C T SNP PTCHD1 ENST00000379361 human ensembl 74_37 +1 known silent c.582 p.G194 0.316 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC ENSG00000165186 86 0 0 42 45 51.7241 ZBED1 0 genome.wustl.edu 37 X 2408097 2408097 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 2408097 2408097 C T SNP ZBED1 ENST00000381218 human ensembl 74_37 -1 known missense c.664 p.A222T 0.000 superfamily_RNaseH-like_dom pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED1 HGNC ENSG00000214717 68 0 0 26 12 31.5789 PDK3 0 genome.wustl.edu 37 X 24552101 24552101 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 24552101 24552101 G A SNP PDK3 ENST00000441463 human ensembl 74_37 +1 known missense c.1133 p.R378H 1.000 NULL pfam_BCDHK/PDK_N,pfam_HATPase_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core - no_errors PDK3 HGNC ENSG00000067992 34 0 0 14 11 44 PCYT1B 0 genome.wustl.edu 37 X 24608151 24608151 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 24608151 24608151 C T SNP PCYT1B ENST00000379144 human ensembl 74_37 -1 known missense c.475 p.E159K 1.000 pfam_Cyt_trans-like pfam_Cyt_trans-like,tigrfam_Cyt_trans-like - no_errors PCYT1B HGNC ENSG00000102230 18 0 0 14 4 22.2222 PCYT1B 0 genome.wustl.edu 37 X 24690692 24690692 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 24690692 24690692 G A SNP PCYT1B ENST00000379145 human ensembl 74_37 -1 known missense c.58 p.R20C 0.191 NULL pfam_Cyt_trans-like,tigrfam_Cyt_trans-like - no_errors PCYT1B HGNC ENSG00000102230 40 0 0 48 6 11.1111 DCAF8L2 0 genome.wustl.edu 37 X 27766835 27766835 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 27766835 27766835 C T SNP DCAF8L2 ENST00000451261 human ensembl 74_37 +1 known missense c.1823 p.S608L 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L2 HGNC ENSG00000189186 11 0 0 8 3 27.2727 DCAF8L1 0 genome.wustl.edu 37 X 27997832 27997832 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 27997832 27997832 C T SNP DCAF8L1 ENST00000441525 human ensembl 74_37 -1 known silent c.1620 p.T540 0.005 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L1 HGNC ENSG00000226372 60 0 0 52 7 11.8644 TAB3 0 genome.wustl.edu 37 X 30872570 30872570 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 30872570 30872570 C T SNP TAB3 ENST00000288422 human ensembl 74_37 -1 known silent c.1212 p.T404 0.206 NULL pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB3 HGNC ENSG00000157625 90 0 0 91 11 10.7843 TAB3 0 genome.wustl.edu 37 X 30877628 30877628 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 30877628 30877628 G A SNP TAB3 ENST00000288422 human ensembl 74_37 -1 known silent c.78 p.G26 0.974 pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB3 HGNC ENSG00000157625 24 0 0 13 11 45.8333 FAM47C 0 genome.wustl.edu 37 X 37028325 37028325 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 37028325 37028325 C T SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known silent c.1842 p.R614 0.000 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 53 0 0 30 5 14.2857 FAM47C 0 genome.wustl.edu 37 X 37028757 37028757 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 37028757 37028757 C T SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known silent c.2274 p.R758 0.001 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 53 0 0 25 25 50 CYBB 0 genome.wustl.edu 37 X 37663265 37663265 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 37663265 37663265 G A SNP CYBB ENST00000378588 human ensembl 74_37 +1 known missense c.1033 p.A345T 1.000 pfam_FAD-bd_8,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors CYBB HGNC ENSG00000165168 59 0 0 19 25 56.8182 MID1IP1 0 genome.wustl.edu 37 X 38664476 38664476 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 38664476 38664476 C T SNP MID1IP1 ENST00000336949 human ensembl 74_37 +1 known missense c.277 p.L93F 1.000 pfam_Spot_14 pfam_Spot_14 - no_errors MID1IP1 HGNC ENSG00000165175 15 0 0 10 19 65.5172 BCOR 0 genome.wustl.edu 37 X 39932705 39932705 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 39932705 39932705 C T SNP BCOR ENST00000378444 human ensembl 74_37 -1 known missense c.1894 p.G632S 0.999 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 45 0 0 21 15 41.6667 DUSP21 0 genome.wustl.edu 37 X 44703683 44703683 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 44703683 44703683 C T SNP DUSP21 ENST00000339042 human ensembl 74_37 +1 known missense c.305 p.T102M 0.942 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famB,prints_Atypical_DUSP - no_errors DUSP21 HGNC ENSG00000189037 59 0 0 35 6 14.6341 ELK1 0 genome.wustl.edu 37 X 47500653 47500653 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 47500653 47500653 G A SNP ELK1 ENST00000247161 human ensembl 74_37 -1 known missense c.188 p.A63V 1.000 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELK1 HGNC ENSG00000126767 37 0 0 22 5 18.5185 ZNF630 0 genome.wustl.edu 37 X 47926265 47926265 + Missense_Mutation SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 47926265 47926265 A G SNP ZNF630 ENST00000409324 human ensembl 74_37 -1 known missense c.10 p.S4P 0.000 superfamily_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 ZNF630 HGNC ENSG00000221994 37 0 0 40 5 11.1111 HDAC6 0 genome.wustl.edu 37 X 48661088 48661088 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 48661088 48661088 G A SNP HDAC6 ENST00000444343 human ensembl 74_37 +1 known missense c.31 p.A11T 0.000 NULL pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 14 0 0 3 3 50 GRIPAP1 0 genome.wustl.edu 37 X 48832466 48832466 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 48832466 48832466 C T SNP GRIPAP1 ENST00000376441 human ensembl 74_37 -1 known missense c.2242 p.A748T 1.000 NULL superfamily_Prefoldin - no_errors GRIPAP1 HGNC ENSG00000068400 34 0 0 12 13 52 CLCN5 0 genome.wustl.edu 37 X 49856842 49856842 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 49856842 49856842 C T SNP CLCN5 ENST00000376088 human ensembl 74_37 +1 known missense c.2417 p.A806V 1.000 NULL pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-5 - no_errors CLCN5 HGNC ENSG00000171365 45 0 0 34 5 12.8205 SHROOM4 0 genome.wustl.edu 37 X 50339874 50339874 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 50339874 50339874 C T SNP SHROOM4 ENST00000289292 human ensembl 74_37 -1 known missense c.4303 p.V1435M 0.995 pfam_ASD2 pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 17 0 0 17 4 19.0476 BMP15 0 genome.wustl.edu 37 X 50659440 50659440 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 50659440 50659440 G A SNP BMP15 ENST00000252677 human ensembl 74_37 +1 known missense c.1012 p.A338T 0.999 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP15 HGNC ENSG00000130385 67 0 0 53 6 10.1695 CXorf67 0 genome.wustl.edu 37 X 51150634 51150634 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 51150634 51150634 G A SNP CXorf67 ENST00000342995 human ensembl 74_37 +1 known missense c.766 p.A256T 0.001 NULL NULL - no_errors CXorf67 HGNC ENSG00000187690 11 0 0 2 5 71.4286 GSPT2 0 genome.wustl.edu 37 X 51488078 51488078 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 51488078 51488078 C T SNP GSPT2 ENST00000340438 human ensembl 74_37 +1 known silent c.1356 p.S452 0.928 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom - no_errors GSPT2 HGNC ENSG00000189369 41 0 0 17 16 48.4848 KDM5C 0 genome.wustl.edu 37 X 53247024 53247024 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 53247024 53247024 C T SNP KDM5C ENST00000375401 human ensembl 74_37 -1 known missense c.476 p.R159H 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 30 0 0 14 12 46.1538 IQSEC2 0 genome.wustl.edu 37 X 53280263 53280263 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 53280263 53280263 G A SNP IQSEC2 ENST00000396435 human ensembl 74_37 -1 known missense c.1495 p.R499W 0.983 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_P-loop_NTPase,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC2 HGNC ENSG00000124313 52 0 0 24 24 50 HUWE1 0 genome.wustl.edu 37 X 53569478 53569478 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 53569478 53569478 G A SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.11402 p.A3801V 0.011 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 41 0 0 29 7 19.4444 GNL3L 0 genome.wustl.edu 37 X 54584945 54584945 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 54584945 54584945 G A SNP GNL3L ENST00000336470 human ensembl 74_37 +1 known missense c.1523 p.R508H 0.000 NULL pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors GNL3L HGNC ENSG00000130119 32 0 0 12 14 53.8462 ITIH6 0 genome.wustl.edu 37 X 54781451 54781451 + Silent SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 54781451 54781451 T C SNP ITIH6 ENST00000218436 human ensembl 74_37 -1 known silent c.3201 p.K1067 0.118 NULL pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC ENSG00000102313 37 0 0 32 7 17.9487 TRO 0 genome.wustl.edu 37 X 54949812 54949812 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 54949812 54949812 G A SNP TRO ENST00000173898 human ensembl 74_37 +1 known missense c.847 p.A283T 0.001 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 8 0 0 6 9 60 USP51 0 genome.wustl.edu 37 X 55514472 55514472 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 55514472 55514472 C T SNP USP51 ENST00000500968 human ensembl 74_37 -1 known missense c.901 p.A301T 1.000 NULL pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP51 HGNC ENSG00000247746 59 0 0 24 23 48.9362 AR 0 genome.wustl.edu 37 X 66942787 66942787 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 66942787 66942787 C T SNP AR ENST00000374690 human ensembl 74_37 +1 known silent c.2568 p.R856 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 40 0 0 16 17 51.5152 PJA1 0 genome.wustl.edu 37 X 68382185 68382185 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 68382185 68382185 G A SNP PJA1 ENST00000361478 human ensembl 74_37 -1 known silent c.897 p.G299 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA1 HGNC ENSG00000181191 45 0 0 38 14 26.9231 P2RY4 0 genome.wustl.edu 37 X 69479032 69479032 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 69479032 69479032 C T SNP P2RY4 ENST00000374519 human ensembl 74_37 -1 known missense c.443 p.R148H 0.992 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y4_rcpt,prints_P2Y2_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y4_rcpt,prints_GPCR_Rhodpsn,prints_P2Y2_rcpt - no_errors P2RY4 HGNC ENSG00000186912 12 0 0 17 11 39.2857 KIF4A 0 genome.wustl.edu 37 X 69615826 69615826 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 69615826 69615826 C T SNP KIF4A ENST00000374403 human ensembl 74_37 +1 known missense c.2416 p.R806C 0.017 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4A HGNC ENSG00000090889 51 0 0 26 18 40.9091 SLC7A3 0 genome.wustl.edu 37 X 70149776 70149776 + Silent SNP A A C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 70149776 70149776 A C SNP SLC7A3 ENST00000298085 human ensembl 74_37 -1 known silent c.72 p.A24 0.001 tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease - no_errors SLC7A3 HGNC ENSG00000165349 26 0 0 16 12 42.8571 TAF1 0 genome.wustl.edu 37 X 70598858 70598858 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 70598858 70598858 C T SNP TAF1 ENST00000449580 human ensembl 74_37 +1 known missense c.1334 p.A445V 1.000 pirsf_TAF1_animal 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 TAF1 HGNC ENSG00000147133 70 0 0 61 7 10.2941 TAF1 0 genome.wustl.edu 37 X 70603863 70603863 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 70603863 70603863 C T SNP TAF1 ENST00000449580 human ensembl 74_37 +1 known missense c.1996 p.R666C 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 TAF1 HGNC ENSG00000147133 95 0 0 64 14 17.9487 OGT 0 genome.wustl.edu 37 X 70779183 70779183 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 70779183 70779183 C T SNP OGT ENST00000373719 human ensembl 74_37 +1 known missense c.1669 p.R557C 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors OGT HGNC ENSG00000147162 39 0 0 29 23 44.2308 ERCC6L 0 genome.wustl.edu 37 X 71425358 71425358 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 71425358 71425358 T C SNP ERCC6L ENST00000334463 human ensembl 74_37 -1 known missense c.3259 p.M1087V 0.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L HGNC ENSG00000186871 63 0 0 27 45 62.5 CDX4 0 genome.wustl.edu 37 X 72667389 72667389 + Silent SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 72667389 72667389 C T SNP CDX4 ENST00000373514 human ensembl 74_37 +1 known silent c.300 p.D100 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 19 0 0 5 6 54.5455 XIST 0 genome.wustl.edu 37 X 73062792 73062792 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 73062792 73062792 C T SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 43 0 0 21 15 41.6667 XIST 0 genome.wustl.edu 37 X 73066391 73066391 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 73066391 73066391 C T SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors XIST HGNC ENSG00000229807 87 0 0 40 40 50 XIST 0 genome.wustl.edu 37 X 73068198 73068198 + RNA SNP A A G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 73068198 73068198 A G SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 26 0 0 14 6 30 XIST 0 genome.wustl.edu 37 X 73068975 73068975 + RNA SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 73068975 73068975 C T SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 43 0 0 20 17 45.9459 ATP7A 0 genome.wustl.edu 37 X 77243895 77243895 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 77243895 77243895 C T SNP ATP7A ENST00000341514 human ensembl 74_37 +1 known missense c.278 p.T93M 0.045 superfamily_HeavyMe-assoc_HMA pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,prints_HG_scavenger,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC ENSG00000165240 229 0 0 209 17 7.52212 HDX 0 genome.wustl.edu 37 X 83724399 83724399 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 83724399 83724399 T C SNP HDX ENST00000297977 human ensembl 74_37 -1 known missense c.332 p.Y111C 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HDX HGNC ENSG00000165259 64 0 0 36 29 44.6154 ZNF711 0 genome.wustl.edu 37 X 84523321 84523321 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 84523321 84523321 G A SNP ZNF711 ENST00000276123 human ensembl 74_37 +1 known missense c.938 p.R313Q 0.802 NULL 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 26 0 0 13 14 51.8519 CHM 0 genome.wustl.edu 37 X 85149202 85149202 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 85149202 85149202 T C SNP CHM ENST00000357749 human ensembl 74_37 -1 known missense c.1501 p.K501E 1.000 pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHM HGNC ENSG00000188419 64 0 0 53 3 5.35714 NAP1L3 0 genome.wustl.edu 37 X 92927519 92927519 + Missense_Mutation SNP T T C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 92927519 92927519 T C SNP NAP1L3 ENST00000373079 human ensembl 74_37 -1 known missense c.785 p.D262G 0.007 pfam_NAP_family pfam_NAP_family - no_errors NAP1L3 HGNC ENSG00000186310 83 0 0 33 33 50 TBL1X 0 genome.wustl.edu 37 X 9656277 9656277 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 9656277 9656277 C T SNP TBL1X ENST00000217964 human ensembl 74_37 +1 known missense c.578 p.A193V 1.000 NULL pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1X HGNC ENSG00000101849 13 0 0 4 4 50 SYTL4 0 genome.wustl.edu 37 X 99942125 99942125 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 99942125 99942125 C T SNP SYTL4 ENST00000454200 human ensembl 74_37 -1 known missense c.1129 p.V377I 0.124 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,prints_Synaptotagmin - no_errors SYTL4 HGNC ENSG00000102362 47 0 0 35 24 40.678 NLGN4Y 0 genome.wustl.edu 37 Y 16952743 16952743 + Silent SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 Y 16952743 16952743 G A SNP NLGN4Y ENST00000382868 human ensembl 74_37 +1 known silent c.2223 p.S741 0.989 prints_Neuroligin pfam_CarbesteraseB,prints_Neuroligin - no_errors NLGN4Y HGNC ENSG00000165246 63 0 0 16 10 38.4615 ZFY 0 genome.wustl.edu 37 Y 2847736 2847736 + Missense_Mutation SNP G G A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 Y 2847736 2847736 G A SNP ZFY ENST00000155093 human ensembl 74_37 +1 known missense c.2108 p.R703H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFY HGNC ENSG00000067646 110 0 0 40 30 42.8571 TGIF2LY 0 genome.wustl.edu 37 Y 3447296 3447296 + Missense_Mutation SNP C C T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 Y 3447296 3447296 C T SNP TGIF2LY ENST00000321217 human ensembl 74_37 +1 known missense c.11 p.A4V 0.006 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TGIF2LY HGNC ENSG00000176679 25 0 0 6 6 50 HIAT1 0 genome.wustl.edu 37 1 100534034 100534034 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 100534034 100534034 A - DEL HIAT1 ENST00000370152 human ensembl 74_37 +1 known frame_shift_del c.711 p.V240fs 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors HIAT1 HGNC ENSG00000156875 111 0 0 86 21 19.6262 CAPZA1 0 genome.wustl.edu 37 1 113192225 113192225 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 113192225 113192225 T - DEL CAPZA1 ENST00000485542 human ensembl 74_37 +1 known rna NULL NULL 0.050 - - - no_errors CAPZA1 HGNC ENSG00000116489 13 0 0 13 3 18.75 ADAM30 0 genome.wustl.edu 37 1 120436591 120436591 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 120436591 120436591 T - DEL ADAM30 ENST00000369400 human ensembl 74_37 -1 known frame_shift_del c.2369 p.K790fs 0.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM30 HGNC ENSG00000134249 236 1 0.421941 163 41 20.098 PRDM2 0 genome.wustl.edu 37 1 14108560 14108560 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 14108560 14108560 A - DEL PRDM2 ENST00000235372 human ensembl 74_37 +1 known frame_shift_del c.4270 p.N1426fs 1.000 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 165 0 0 110 34 23.6111 PRDM2 0 genome.wustl.edu 37 1 14108749 14108749 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 14108749 14108749 A - DEL PRDM2 ENST00000235372 human ensembl 74_37 +1 known frame_shift_del c.4459 p.V1490fs 1.000 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 370 1 0.269542 266 59 18.1538 LIX1L 0 genome.wustl.edu 37 1 145498618 145498619 + Frame_Shift_Del DEL AG AG - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 145498618 145498619 AG - DEL LIX1L ENST00000369308 human ensembl 74_37 +1 known frame_shift_del c.854_855 p.S286fs 1.000:1.000 NULL NULL - no_errors LIX1L HGNC ENSG00000152022 30 0 0 35 6 14.6341 FMO5 0 genome.wustl.edu 37 1 146680465 146680465 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 146680465 146680465 T - DEL FMO5 ENST00000254090 human ensembl 74_37 -1 known frame_shift_del c.779 p.K260fs 0.000 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1 - no_errors FMO5 HGNC ENSG00000131781 69 0 0 69 12 14.8148 VPS45 0 genome.wustl.edu 37 1 150082564 150082564 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 150082564 150082564 T - DEL VPS45 ENST00000484306 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors VPS45 HGNC ENSG00000136631 40 0 0 26 5 16.129 RPRD2 0 genome.wustl.edu 37 1 150445908 150445908 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 150445908 150445908 T - DEL RPRD2 ENST00000492220 human ensembl 74_37 +1 known rna NULL NULL 0.276 - - - no_errors RPRD2 HGNC ENSG00000163125 33 0 0 17 4 19.0476 ADAMTSL4 0 genome.wustl.edu 37 1 150529443 150529443 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 150529443 150529443 T - DEL ADAMTSL4 ENST00000369039 human ensembl 74_37 +1 known frame_shift_del c.1847 p.Y618fs 0.666 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ENSG00000143382 404 0 0 298 54 15.3409 POGZ 0 genome.wustl.edu 37 1 151378465 151378465 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 151378465 151378465 C - DEL POGZ ENST00000271715 human ensembl 74_37 -1 known frame_shift_del c.3046 p.E1016fs 1.000 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 90 0 0 80 6 6.97674 LINGO4 0 genome.wustl.edu 37 1 151774033 151774033 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 151774033 151774033 G - DEL LINGO4 ENST00000368820 human ensembl 74_37 -1 known frame_shift_del c.1148 p.P383fs 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO4 HGNC ENSG00000213171 33 0 0 36 9 20 RAB13 0 genome.wustl.edu 37 1 153955602 153955603 + RNA DEL AA AA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 153955602 153955603 AA - DEL RAB13 ENST00000462680 human ensembl 74_37 -1 known rna NULL NULL 0.029:0.027 - - - no_errors RAB13 HGNC ENSG00000143545 77 0 0 43 14 24.5614 KIAA0907 0 genome.wustl.edu 37 1 155886695 155886695 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 155886695 155886695 T - DEL KIAA0907 ENST00000465953 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KIAA0907 HGNC ENSG00000132680 9 0 0 5 3 37.5 BCAN 0 genome.wustl.edu 37 1 156626160 156626160 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 156626160 156626160 G - DEL BCAN ENST00000329117 human ensembl 74_37 +1 known frame_shift_del c.2029 p.D679fs 1.000 pfam_EG-like_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom - no_errors BCAN HGNC ENSG00000132692 69 0 0 65 6 8.4507 ENSG00000228863 0 genome.wustl.edu 37 1 160640798 160640798 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 160640798 160640798 T - DEL ENSG00000228863 ENST00000598917 human ensembl 74_37 +1 known rna NULL NULL 0.983 - - - no_errors RP11-404F10.2 Clone_based_vega_gene ENSG00000228863 30 0 0 19 6 24 ARHGAP30 0 genome.wustl.edu 37 1 161017601 161017601 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 161017601 161017601 G - DEL ARHGAP30 ENST00000368013 human ensembl 74_37 -1 known frame_shift_del c.3210 p.R1071fs 0.882 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 107 0 0 76 8 9.52381 NPHS2 0 genome.wustl.edu 37 1 179528881 179528881 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 179528881 179528881 A - DEL NPHS2 ENST00000367615 human ensembl 74_37 -1 known frame_shift_del c.467 p.L156fs 1.000 pfam_Band_7,smart_Band_7 pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors NPHS2 HGNC ENSG00000116218 20 0 0 17 3 15 DDX59 0 genome.wustl.edu 37 1 200594042 200594042 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 200594042 200594042 T - DEL DDX59 ENST00000447706 human ensembl 74_37 -1 known frame_shift_del c.1730 p.N577fs 0.001 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Znf_HIT,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 DDX59 HGNC ENSG00000118197 76 0 0 47 24 33.8028 DDX59 0 genome.wustl.edu 37 1 200635844 200635844 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 200635844 200635844 T - DEL DDX59 ENST00000331314 human ensembl 74_37 -1 known frame_shift_del c.25 p.I9fs 0.996 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Znf_HIT,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 DDX59 HGNC ENSG00000118197 119 0 0 123 25 16.8919 CAMSAP2 0 genome.wustl.edu 37 1 200822549 200822549 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 200822549 200822549 A - DEL CAMSAP2 ENST00000236925 human ensembl 74_37 +1 known frame_shift_del c.3782 p.K1263fs 0.945 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 139 1 0.714286 119 23 16.1972 CAMSAP2 0 genome.wustl.edu 37 1 200827020 200827020 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 200827020 200827020 A - DEL CAMSAP2 ENST00000236925 human ensembl 74_37 +1 known frame_shift_del c.4303 p.M1437fs 1.000 pfam_CKK_domain,superfamily_PRC_barrel-like pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 113 0 0 83 20 19.4175 PPP1R12B 0 genome.wustl.edu 37 1 202407190 202407190 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 202407190 202407190 T - DEL PPP1R12B ENST00000480184 human ensembl 74_37 +1 novel frame_shift_del c.1496 p.F502fs 0.041 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PPP1R12B HGNC ENSG00000077157 49 0 0 35 13 27.0833 ENSG00000226862 0 genome.wustl.edu 37 1 202573400 202573400 + RNA DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 202573400 202573400 C - DEL ENSG00000226862 ENST00000428573 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-569A11.1 Clone_based_vega_gene ENSG00000226862 13 0 0 15 2 11.7647 CD46 0 genome.wustl.edu 37 1 207933081 207933082 + RNA INS - - T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 207933081 207933082 - T INS CD46 ENST00000469535 human ensembl 74_37 +1 known rna NULL NULL 0.008:0.015 - - - no_errors CD46 HGNC ENSG00000117335 22 0 0 24 6 20 CD34 0 genome.wustl.edu 37 1 208063101 208063102 + Frame_Shift_Del DEL AA AA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 208063101 208063102 AA - DEL CD34 ENST00000367036 human ensembl 74_37 -1 known frame_shift_del c.82_81 p.S28fs 0.000:0.000 NULL pfam_CD34/Podocalyxin,prints_CD34 - no_errors CD34 HGNC ENSG00000174059 26 0 0 30 12 28.5714 KCNH1 0 genome.wustl.edu 37 1 211192536 211192537 + Frame_Shift_Ins INS - - G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 211192536 211192537 - G INS KCNH1 ENST00000271751 human ensembl 74_37 -1 known frame_shift_ins c.621_620 p.H208fs 0.837:1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 134 0 0 83 15 15.3061 DTL 0 genome.wustl.edu 37 1 212253893 212253893 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 212253893 212253893 T - DEL DTL ENST00000463791 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DTL HGNC ENSG00000143476 199 0 0 156 50 24.2718 BATF3 0 genome.wustl.edu 37 1 212870414 212870414 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 212870414 212870414 A - DEL BATF3 ENST00000478275 human ensembl 74_37 -1 known rna NULL NULL 0.148 - - - no_errors BATF3 HGNC ENSG00000123685 61 0 0 35 5 12.5 ANGEL2 0 genome.wustl.edu 37 1 213180442 213180445 + RNA DEL AAAA AAAA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 213180442 213180445 AAAA - DEL ANGEL2 ENST00000460337 human ensembl 74_37 -1 known rna NULL NULL 0.007:0.006:0.011:0.009 - - - no_errors ANGEL2 HGNC ENSG00000174606 73 0 0 50 15 23.0769 PROX1 0 genome.wustl.edu 37 1 214178556 214178556 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 214178556 214178556 T - DEL PROX1 ENST00000261454 human ensembl 74_37 +1 known frame_shift_del c.1774 p.Y594fs 1.000 pfam_Homeo_prospero_dom,superfamily_Homeodomain-like pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 90 0 0 85 9 9.57447 LYPLAL1 0 genome.wustl.edu 37 1 219385123 219385123 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 219385123 219385123 T - DEL LYPLAL1 ENST00000460522 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LYPLAL1 HGNC ENSG00000143353 43 0 0 24 5 17.2414 USP48 0 genome.wustl.edu 37 1 22033386 22033387 + Frame_Shift_Del DEL AA AA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 22033386 22033387 AA - DEL USP48 ENST00000529637 human ensembl 74_37 -1 novel frame_shift_del c.1975_1974 p.S659fs 0.000:0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 39 0 0 37 14 27.451 AGT 0 genome.wustl.edu 37 1 230839055 230839055 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 230839055 230839055 A - DEL AGT ENST00000366667 human ensembl 74_37 -1 known frame_shift_del c.1290 p.F430fs 0.354 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Angiotensinogen - no_errors AGT HGNC ENSG00000135744 101 1 0.980392 68 14 17.0732 ARV1 0 genome.wustl.edu 37 1 231131567 231131568 + Frame_Shift_Del DEL AA AA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 231131567 231131568 AA - DEL ARV1 ENST00000310256 human ensembl 74_37 +1 known frame_shift_del c.510_511 p.K173fs 0.000:0.000 pfam_Arv1 pfam_Arv1 - no_errors ARV1 HGNC ENSG00000173409 68 0 0 66 19 22.3529 RYR2 0 genome.wustl.edu 37 1 237969494 237969494 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 237969494 237969494 T - DEL RYR2 ENST00000360064 human ensembl 74_37 +1 known frame_shift_del c.14227 p.F4745fs 1.000 pfam_Ion_trans_dom pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 61 0 0 43 11 20.3704 TCEB3 0 genome.wustl.edu 37 1 24078404 24078404 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 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 281 0 0 158 91 36.5462 EXO1 0 genome.wustl.edu 37 1 242042052 242042052 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 242042052 242042052 T - DEL EXO1 ENST00000348581 human ensembl 74_37 +1 known frame_shift_del c.1516 p.C508fs 1.000 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 34 0 0 28 4 12.5 PGBD2 0 genome.wustl.edu 37 1 249211828 249211828 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 249211828 249211828 T - DEL PGBD2 ENST00000329291 human ensembl 74_37 +1 known frame_shift_del c.1045 p.F350fs 0.994 NULL NULL - no_errors PGBD2 HGNC ENSG00000185220 157 0 0 134 23 14.6497 PGBD2 0 genome.wustl.edu 37 1 249211954 249211954 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 249211954 249211954 A - DEL PGBD2 ENST00000329291 human ensembl 74_37 +1 known frame_shift_del c.1171 p.M393fs 0.935 NULL NULL - no_errors PGBD2 HGNC ENSG00000185220 90 0 0 79 23 22.549 TMEM222 0 genome.wustl.edu 37 1 27657215 27657215 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 27657215 27657215 T - DEL TMEM222 ENST00000374076 human ensembl 74_37 +1 known frame_shift_del c.199 p.F68fs 1.000 pfam_DUF778 pfam_DUF778 - no_errors TMEM222 HGNC ENSG00000186501 200 0 0 131 28 17.6101 PTP4A2 0 genome.wustl.edu 37 1 32384717 32384717 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 32384717 32384717 A - DEL PTP4A2 ENST00000532289 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PTP4A2 HGNC ENSG00000184007 21 0 0 16 4 20 ZMYM1 0 genome.wustl.edu 37 1 35563188 35563188 + RNA DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 35563188 35563188 C - DEL ZMYM1 ENST00000466390 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZMYM1 HGNC ENSG00000197056 89 0 0 68 9 11.6883 ZMYM4 0 genome.wustl.edu 37 1 35846960 35846961 + Frame_Shift_Del DEL AA AA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 35846960 35846961 AA - DEL ZMYM4 ENST00000314607 human ensembl 74_37 +1 known frame_shift_del c.1282_1283 p.K430fs 1.000:1.000 NULL pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM4 HGNC ENSG00000146463 99 0 0 54 18 25 THRAP3 0 genome.wustl.edu 37 1 36752635 36752635 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 36752635 36752635 C - DEL THRAP3 ENST00000354618 human ensembl 74_37 +1 known frame_shift_del c.804 p.V270fs 1.000 NULL NULL - no_errors THRAP3 HGNC ENSG00000054118 103 0 0 59 14 19.1781 MACF1 0 genome.wustl.edu 37 1 39924237 39924237 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 39924237 39924237 A - DEL MACF1 ENST00000497964 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors MACF1 HGNC ENSG00000127603 25 0 0 25 6 19.3548 PABPC4 0 genome.wustl.edu 37 1 40027379 40027381 + In_Frame_Del DEL AGC AGC - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AGC AGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 40027379 40027381 AGC - DEL PABPC4 ENST00000372858 human ensembl 74_37 -1 known in_frame_del c.1974_1972 p.A658in_frame_del 1.000:1.000:1.000 superfamily_PABP_HYD pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC4 HGNC ENSG00000090621 84 0 0 57 10 14.9254 ENSG00000228060 0 genome.wustl.edu 37 1 40038264 40038265 + RNA DEL AG AG - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 40038264 40038265 AG - DEL ENSG00000228060 ENST00000415255 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors RP11-69E11.8 Clone_based_vega_gene ENSG00000228060 89 0 0 56 7 11.1111 RLF 0 genome.wustl.edu 37 1 40705591 40705591 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 40705591 40705591 A - DEL RLF ENST00000372771 human ensembl 74_37 +1 known frame_shift_del c.5217 p.N1741fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 127 0 0 90 20 18.1818 TAL1 0 genome.wustl.edu 37 1 47689698 47689698 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 47689698 47689698 G - DEL TAL1 ENST00000371883 human ensembl 74_37 -1 known frame_shift_del c.525 p.Y176fs 0.999 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TAL1 HGNC ENSG00000162367 180 0 0 140 28 16.6667 BTF3L4 0 genome.wustl.edu 37 1 52530571 52530571 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 52530571 52530571 A - DEL BTF3L4 ENST00000313334 human ensembl 74_37 +1 known frame_shift_del c.129 p.K45fs 0.252 pfam_Nas_poly-pep-assoc_cplx_dom,pfscan_Nas_poly-pep-assoc_cplx_dom pfam_Nas_poly-pep-assoc_cplx_dom,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors BTF3L4 HGNC ENSG00000134717 83 0 0 66 11 14.2857 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 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 62 0 0 14 10 41.6667 DOCK7 0 genome.wustl.edu 37 1 62941104 62941104 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 62941104 62941104 A - DEL DOCK7 ENST00000467758 human ensembl 74_37 -1 known rna NULL NULL 0.057 - - - no_errors DOCK7 HGNC ENSG00000116641 21 0 0 17 3 15 JAK1 0 genome.wustl.edu 37 1 65306997 65306997 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 65306997 65306997 T - DEL JAK1 ENST00000342505 human ensembl 74_37 -1 known frame_shift_del c.2580 p.K860fs 0.055 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,superfamily_Kinase-like_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 129 0 0 93 14 13.0841 NOL9 0 genome.wustl.edu 37 1 6593377 6593378 + Frame_Shift_Del DEL CT CT - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 6593377 6593378 CT - DEL NOL9 ENST00000377705 human ensembl 74_37 -1 known frame_shift_del c.1200_1199 p.E400fs 0.827:1.000 superfamily_P-loop_NTPase pfam_Pre-mRNA_cleavage_cplxII_Clp1,superfamily_P-loop_NTPase - no_errors NOL9 HGNC ENSG00000162408 143 0 0 95 21 18.1034 PHF13 0 genome.wustl.edu 37 1 6680127 6680128 + Frame_Shift_Ins INS - - G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 6680127 6680128 - G INS PHF13 ENST00000377648 human ensembl 74_37 +1 known frame_shift_ins c.406_407 p.L140fs 0.917:0.944 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF13 HGNC ENSG00000116273 38 0 0 44 5 10.2041 GNG12 0 genome.wustl.edu 37 1 68171151 68171151 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 68171151 68171151 T - DEL GNG12 ENST00000370982 human ensembl 74_37 -1 known frame_shift_del c.202 p.T68fs 1.000 smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNG12 HGNC ENSG00000172380 134 0 0 115 19 14.1791 LRRIQ3 0 genome.wustl.edu 37 1 74549889 74549889 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 74549889 74549889 T - DEL LRRIQ3 ENST00000415760 human ensembl 74_37 -1 known frame_shift_del c.879 p.K293fs 0.995 NULL pfam_Leu-rich_rpt,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 9 0 0 6 3 33.3333 ZZZ3 0 genome.wustl.edu 37 1 78046646 78046646 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 78046646 78046646 T - DEL ZZZ3 ENST00000476275 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZZZ3 HGNC ENSG00000036549 68 0 0 35 11 23.913 SPATA1 0 genome.wustl.edu 37 1 84991901 84991901 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 84991901 84991901 A - DEL SPATA1 ENST00000370638 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA1 HGNC ENSG00000122432 15 0 0 3 2 40 LPAR3 0 genome.wustl.edu 37 1 85331763 85331764 + Frame_Shift_Ins INS - - A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 85331763 85331764 - A INS LPAR3 ENST00000370611 human ensembl 74_37 -1 known frame_shift_ins c.41_40 p.Y14fs 1.000:1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG7,prints_GPCR_Rhodpsn,prints_LPA_rcpt,prints_LPA_rcpt_EDG2,prints_Melcrt_ACTH_rcpt - no_errors LPAR3 HGNC ENSG00000171517 225 0 0 163 35 17.6768 ENSG00000237568 0 genome.wustl.edu 37 1 89735377 89735377 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 89735377 89735377 A - DEL ENSG00000237568 ENST00000437128 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors RP4-620F22.2 Clone_based_vega_gene ENSG00000237568 15 0 0 7 3 30 MTF2 0 genome.wustl.edu 37 1 93599773 93599773 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 1 93599773 93599773 T - DEL MTF2 ENST00000487263 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MTF2 HGNC ENSG00000143033 42 0 0 20 9 31.0345 PYROXD2 0 genome.wustl.edu 37 10 100152769 100152769 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 100152769 100152769 C - DEL PYROXD2 ENST00000370575 human ensembl 74_37 -1 known frame_shift_del c.857 p.G286fs 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase - no_errors PYROXD2 HGNC ENSG00000119943 45 0 0 51 11 17.7419 ADD3 0 genome.wustl.edu 37 10 111879342 111879342 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 111879342 111879342 T - DEL ADD3 ENST00000488104 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ADD3 HGNC ENSG00000148700 69 0 0 70 12 14.6341 ADD3 0 genome.wustl.edu 37 10 111893350 111893350 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 111893350 111893350 A - DEL ADD3 ENST00000356080 human ensembl 74_37 +1 known frame_shift_del c.2095 p.K701fs 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ENSG00000148700 177 0 0 163 9 5.23256 ENO4 0 genome.wustl.edu 37 10 118618628 118618628 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 118618628 118618628 A - DEL ENO4 ENST00000341276 human ensembl 74_37 +1 known frame_shift_del c.616 p.K208fs 0.942 NULL pfam_Enolase_C,pfam_Enolase_N - no_errors ENO4 HGNC ENSG00000188316 10 0 0 3 3 50 KIAA1598 0 genome.wustl.edu 37 10 118719757 118719757 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 118719757 118719757 A - DEL KIAA1598 ENST00000490615 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KIAA1598 HGNC ENSG00000187164 56 0 0 20 5 20 C10orf120 0 genome.wustl.edu 37 10 124457495 124457495 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 124457495 124457495 T - DEL C10orf120 ENST00000329446 human ensembl 74_37 -1 known frame_shift_del c.762 p.K254fs 0.000 NULL NULL - no_errors C10orf120 HGNC ENSG00000183559 151 0 0 104 23 18.1102 FANK1 0 genome.wustl.edu 37 10 127697969 127697969 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 127697969 127697969 A - DEL FANK1 ENST00000368693 human ensembl 74_37 +1 known frame_shift_del c.1000 p.K336fs 0.022 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3,prints_Ankyrin_rpt - no_errors FANK1 HGNC ENSG00000203780 95 0 0 69 19 21.5909 CCDC3 0 genome.wustl.edu 37 10 12940430 12940431 + Frame_Shift_Ins INS - - G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 12940430 12940431 - G INS CCDC3 ENST00000378825 human ensembl 74_37 -1 known frame_shift_ins c.799_798 p.Y266fs 0.987:0.964 NULL NULL - no_errors CCDC3 HGNC ENSG00000151468 17 0 0 12 4 25 MTG1 0 genome.wustl.edu 37 10 135211971 135211971 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 135211971 135211971 A - DEL MTG1 ENST00000317502 human ensembl 74_37 +1 known frame_shift_del c.315 p.N107fs 0.220 superfamily_P-loop_NTPase,pirsf_GTPase_MTG1,tigrfam_GTP-bd_ribosome_bgen_YlqF pfam_GTP_binding_domain,superfamily_P-loop_NTPase,pirsf_GTPase_MTG1,tigrfam_GTP-bd_ribosome_bgen_YlqF - no_errors MTG1 HGNC ENSG00000148824 149 0 0 112 12 9.67742 C10orf71 0 genome.wustl.edu 37 10 50530938 50530938 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 50530938 50530938 C - DEL C10orf71 ENST00000374144 human ensembl 74_37 +1 known frame_shift_del c.348 p.P118fs 0.998 NULL NULL - no_errors C10orf71 HGNC ENSG00000177354 113 0 0 94 5 5.05051 DKK1 0 genome.wustl.edu 37 10 54074839 54074839 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 54074839 54074839 A - DEL DKK1 ENST00000373970 human ensembl 74_37 +1 known frame_shift_del c.400 p.N135fs 1.000 pfam_Dickkopf_N pfam_Dickkopf_N - no_errors DKK1 HGNC ENSG00000107984 56 0 0 24 4 14.2857 JMJD1C 0 genome.wustl.edu 37 10 64974250 64974250 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 64974250 64974250 T - DEL JMJD1C ENST00000399262 human ensembl 74_37 -1 known frame_shift_del c.1677 p.D560fs 0.998 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 90 0 0 78 7 8.23529 MYPN 0 genome.wustl.edu 37 10 69935180 69935180 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 69935180 69935180 A - DEL MYPN ENST00000358913 human ensembl 74_37 +1 known frame_shift_del c.2665 p.I891fs 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MYPN HGNC ENSG00000138347 135 0 0 84 16 16 RUFY2 0 genome.wustl.edu 37 10 70156582 70156583 + Frame_Shift_Ins INS - - T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 70156582 70156583 - T INS RUFY2 ENST00000388768 human ensembl 74_37 -1 known frame_shift_ins c.458_457 p.M153fs 1.000:0.996 pfam_Run,smart_Run,pfscan_Run pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors RUFY2 HGNC ENSG00000204130 67 0 0 73 14 16.092 DNA2 0 genome.wustl.edu 37 10 70182521 70182521 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 70182521 70182521 A - DEL DNA2 ENST00000399180 human ensembl 74_37 -1 known frame_shift_del c.2593 p.S865fs 1.000 superfamily_P-loop_NTPase pfam_DNA_replication_fac_Dna2_N,superfamily_P-loop_NTPase - no_errors DNA2 HGNC ENSG00000138346 38 0 0 38 7 15.5556 GLUD1P3 0 genome.wustl.edu 37 10 75491118 75491118 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 75491118 75491118 T - DEL GLUD1P3 ENST00000507952 human ensembl 74_37 +1 known rna NULL NULL 0.993 - - - no_errors GLUD1P3 HGNC ENSG00000250959 21 0 0 16 2 11.1111 ZSWIM8 0 genome.wustl.edu 37 10 75560546 75560547 + RNA DEL CC CC - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 75560546 75560547 CC - DEL ZSWIM8 ENST00000603195 human ensembl 74_37 +1 known rna NULL NULL 0.749:0.797 - - - no_errors ZSWIM8 HGNC ENSG00000214655 16 0 0 11 2 15.3846 ENSG00000232342 0 genome.wustl.edu 37 10 76287741 76287741 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 76287741 76287741 A - DEL ENSG00000232342 ENST00000448214 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-46O21.2 Clone_based_vega_gene ENSG00000232342 29 0 0 19 9 32.1429 FRA10AC1 0 genome.wustl.edu 37 10 95459788 95459788 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 10 95459788 95459788 T - DEL FRA10AC1 ENST00000359204 human ensembl 74_37 -1 known frame_shift_del c.76 p.R26fs 1.000 NULL pfam_Folate-sensitive_fs_Fra10Ac1 - no_errors FRA10AC1 HGNC ENSG00000148690 46 0 0 36 11 23.4043 KIAA1377 0 genome.wustl.edu 37 11 101833287 101833287 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 101833287 101833287 T - DEL KIAA1377 ENST00000263468 human ensembl 74_37 +1 known frame_shift_del c.1521 p.F508fs 0.002 NULL NULL - no_errors KIAA1377 HGNC ENSG00000110318 46 0 0 30 7 18.9189 DYNC2H1 0 genome.wustl.edu 37 11 103349968 103349969 + Frame_Shift_Ins INS - - A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 103349968 103349969 - A INS DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known frame_shift_ins c.12932_12933 p.N4313fs 0.996:0.857 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 75 0 0 43 7 14 CASP5 0 genome.wustl.edu 37 11 104874011 104874011 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 104874011 104874011 T - DEL CASP5 ENST00000393141 human ensembl 74_37 -1 known frame_shift_del c.572 p.N191fs 0.006 pirsf_Caspase_IL-1_beta pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP5 HGNC ENSG00000137757 150 0 0 91 26 22.2222 CUL5 0 genome.wustl.edu 37 11 107965657 107965658 + Frame_Shift_Ins INS - - A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 107965657 107965658 - A INS CUL5 ENST00000393094 human ensembl 74_37 +1 known frame_shift_ins c.1686_1687 p.N564fs 1.000:1.000 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 CUL5 HGNC ENSG00000166266 90 0 0 60 5 7.69231 DDX10 0 genome.wustl.edu 37 11 108544239 108544239 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 108544239 108544239 A - DEL DDX10 ENST00000322536 human ensembl 74_37 +1 known frame_shift_del c.232 p.T80fs 0.988 pfscan_RNA_helicase_DEAD_Q_motif pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX10 HGNC ENSG00000178105 98 0 0 40 12 23.0769 C11orf57 0 genome.wustl.edu 37 11 111953289 111953289 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 111953289 111953289 A - DEL C11orf57 ENST00000393047 human ensembl 74_37 +1 known frame_shift_del c.475 p.K161fs 1.000 NULL NULL - no_errors C11orf57 HGNC ENSG00000150776 268 0 0 196 41 17.2996 REXO2 0 genome.wustl.edu 37 11 114320750 114320750 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 114320750 114320750 T - DEL REXO2 ENST00000544507 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors REXO2 HGNC ENSG00000076043 116 0 0 68 15 18.0723 DDX6 0 genome.wustl.edu 37 11 118629613 118629614 + Splice_Site INS - - G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 118629613 118629614 - G 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 141 0 0 109 16 12.8 PDZD3 0 genome.wustl.edu 37 11 119058146 119058146 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 119058146 119058146 T - DEL PDZD3 ENST00000392817 human ensembl 74_37 +1 known frame_shift_del c.696 p.F233fs 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD3 HGNC ENSG00000172367 28 0 0 29 9 23.6842 OR8D4 0 genome.wustl.edu 37 11 123777442 123777442 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 123777442 123777442 T - DEL OR8D4 ENST00000321355 human ensembl 74_37 +1 known frame_shift_del c.304 p.F104fs 0.939 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 OR8D4 HGNC ENSG00000181518 279 0 0 247 17 6.43939 VSIG2 0 genome.wustl.edu 37 11 124620740 124620740 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 124620740 124620740 G - DEL VSIG2 ENST00000326621 human ensembl 74_37 -1 known frame_shift_del c.297 p.T100fs 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VSIG2 HGNC ENSG00000019102 49 0 0 24 3 11.1111 MUC5B 0 genome.wustl.edu 37 11 1262591 1262591 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 1262591 1262591 C - DEL MUC5B ENST00000447027 human ensembl 74_37 +1 known frame_shift_del c.4490 p.S1499fs 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 17 0 0 8 2 20 MUC15 0 genome.wustl.edu 37 11 26587427 26587427 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 26587427 26587427 T - DEL MUC15 ENST00000436318 human ensembl 74_37 -1 known frame_shift_del c.60 p.K20fs 0.000 NULL NULL - no_errors MUC15 HGNC ENSG00000169550 65 0 0 46 4 8 CCDC73 0 genome.wustl.edu 37 11 32635951 32635951 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 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 35 0 0 25 10 28.5714 CCDC73 0 genome.wustl.edu 37 11 32637520 32637520 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 32637520 32637520 T - DEL CCDC73 ENST00000335185 human ensembl 74_37 -1 known frame_shift_del c.1341 p.E448fs 0.000 NULL NULL - no_errors CCDC73 HGNC ENSG00000186714 70 0 0 43 18 29.5082 OR51E2 0 genome.wustl.edu 37 11 4703475 4703475 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 4703475 4703475 A - DEL OR51E2 ENST00000396950 human ensembl 74_37 -1 known frame_shift_del c.467 p.F156fs 0.027 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51E2 HGNC ENSG00000167332 71 0 0 49 4 7.54717 FOLH1 0 genome.wustl.edu 37 11 49179535 49179535 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 49179535 49179535 T - DEL FOLH1 ENST00000256999 human ensembl 74_37 -1 known frame_shift_del c.1501 p.S501fs 0.999 NULL pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 120 0 0 101 24 19.2 OR52A5 0 genome.wustl.edu 37 11 5153679 5153679 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 5153679 5153679 A - DEL OR52A5 ENST00000307388 human ensembl 74_37 -1 known frame_shift_del c.194 p.L65fs 0.870 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52A5 HGNC ENSG00000171944 125 0 0 95 8 7.76699 TRIM51HP 0 genome.wustl.edu 37 11 55065031 55065032 + RNA INS - - T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 55065031 55065032 - T INS TRIM51HP ENST00000526016 human ensembl 74_37 -1 putative rna NULL NULL 0.009:0.010 - - - no_errors TRIM51HP HGNC ENSG00000166007 70 0 0 57 5 8.06452 OR5D14 0 genome.wustl.edu 37 11 55563305 55563305 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 55563305 55563305 A - DEL OR5D14 ENST00000335605 human ensembl 74_37 +1 known frame_shift_del c.274 p.S93fs 0.009 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D14 HGNC ENSG00000186113 73 0 0 47 18 27.6923 TRIM51 0 genome.wustl.edu 37 11 55653610 55653610 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 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 70 0 0 35 9 20.4545 CTNND1 0 genome.wustl.edu 37 11 57569589 57569589 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 57569589 57569589 A - DEL CTNND1 ENST00000399050 human ensembl 74_37 +1 known frame_shift_del c.1341 p.N449fs 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 383 0 0 320 59 15.5673 OR5B12 0 genome.wustl.edu 37 11 58207027 58207028 + Frame_Shift_Ins INS - - A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 58207027 58207028 - A INS OR5B12 ENST00000302572 human ensembl 74_37 -1 known frame_shift_ins c.598_597 p.V199fs 0.006:0.000 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 OR5B12 HGNC ENSG00000172362 77 0 0 55 6 9.83607 FADS1 0 genome.wustl.edu 37 11 61572224 61572224 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 61572224 61572224 G - DEL FADS1 ENST00000350997 human ensembl 74_37 -1 known frame_shift_del c.986 p.P329fs 1.000 pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd - no_errors FADS1 HGNC ENSG00000149485 76 0 0 34 13 27.6596 MTA2 0 genome.wustl.edu 37 11 62365601 62365601 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 62365601 62365601 A - DEL MTA2 ENST00000278823 human ensembl 74_37 -1 known frame_shift_del c.385 p.Y129fs 1.000 pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom 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 MTA2 HGNC ENSG00000149480 172 0 0 128 30 18.9873 SLC3A2 0 genome.wustl.edu 37 11 62649529 62649529 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 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 96 0 0 75 26 25.7426 RTN3 0 genome.wustl.edu 37 11 63525705 63525705 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 63525705 63525705 A - DEL RTN3 ENST00000341307 human ensembl 74_37 +1 known frame_shift_del c.684 p.K229fs 1.000 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 84 0 0 55 10 15.3846 VEGFB 0 genome.wustl.edu 37 11 64004663 64004663 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 64004663 64004663 A - DEL VEGFB ENST00000309422 human ensembl 74_37 +1 known frame_shift_del c.379 p.K129fs 1.000 pfscan_PDGF/VEGF_dom pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors VEGFB HGNC ENSG00000173511 164 0 0 112 25 18.2482 NRXN2 0 genome.wustl.edu 37 11 64457919 64457919 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 64457919 64457919 C - DEL NRXN2 ENST00000265459 human ensembl 74_37 -1 known frame_shift_del c.808 p.A270fs 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 NRXN2 HGNC ENSG00000110076 23 0 0 10 5 33.3333 BATF2 0 genome.wustl.edu 37 11 64764370 64764370 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 64764370 64764370 C - DEL BATF2 ENST00000301887 human ensembl 74_37 -1 known frame_shift_del c.17 p.G6fs 0.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors BATF2 HGNC ENSG00000168062 44 0 0 39 5 11.3636 SF3B2 0 genome.wustl.edu 37 11 65836146 65836146 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 65836146 65836146 A - DEL SF3B2 ENST00000322535 human ensembl 74_37 +1 known frame_shift_del c.2618 p.K875fs 1.000 NULL pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom - no_errors SF3B2 HGNC ENSG00000087365 36 0 0 26 8 23.5294 ENSG00000245156 0 genome.wustl.edu 37 11 66039143 66039143 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 66039143 66039143 A - DEL ENSG00000245156 ENST00000501708 human ensembl 74_37 -1 known rna NULL NULL 0.020 - - - no_errors RP11-867G23.3 Clone_based_vega_gene ENSG00000245156 10 0 0 2 8 80 RAB1B 0 genome.wustl.edu 37 11 66039888 66039888 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 66039888 66039888 G - DEL RAB1B ENST00000311481 human ensembl 74_37 +1 known frame_shift_del c.236 p.A81fs 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,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,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,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 RAB1B HGNC ENSG00000174903 66 0 0 38 7 15.5556 USP35 0 genome.wustl.edu 37 11 77920856 77920856 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 77920856 77920856 C - DEL USP35 ENST00000529308 human ensembl 74_37 +1 known frame_shift_del c.1955 p.T655fs 0.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP35 HGNC ENSG00000118369 22 0 0 12 7 36.8421 ANKRD42 0 genome.wustl.edu 37 11 82936075 82936075 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 82936075 82936075 A - DEL ANKRD42 ENST00000393392 human ensembl 74_37 +1 known frame_shift_del c.681 p.D229fs 0.440 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD42 HGNC ENSG00000137494 111 0 0 62 13 17.3333 SYTL2 0 genome.wustl.edu 37 11 85436878 85436878 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 85436878 85436878 T - DEL SYTL2 ENST00000359152 human ensembl 74_37 -1 known frame_shift_del c.2194 p.T732fs 0.002 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYTL2 HGNC ENSG00000137501 130 0 0 110 19 14.7287 FZD4 0 genome.wustl.edu 37 11 86662812 86662812 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 86662812 86662812 A - DEL FZD4 ENST00000531380 human ensembl 74_37 -1 known frame_shift_del c.986 p.L329fs 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 FZD4 HGNC ENSG00000174804 59 0 0 36 2 5.26316 TYR 0 genome.wustl.edu 37 11 88911521 88911521 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 88911521 88911521 T - DEL TYR ENST00000263321 human ensembl 74_37 +1 known frame_shift_del c.400 p.F135fs 1.000 superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYR HGNC ENSG00000077498 188 0 0 169 9 5.05618 TMEM41B 0 genome.wustl.edu 37 11 9308018 9308018 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 9308018 9308018 A - DEL TMEM41B ENST00000299596 human ensembl 74_37 -1 known frame_shift_del c.690 p.F230fs 1.000 pfam_SNARE_assoc pfam_SNARE_assoc - no_errors TMEM41B HGNC ENSG00000166471 183 0 0 118 19 13.8686 MRE11A 0 genome.wustl.edu 37 11 94189473 94189473 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 94189473 94189473 T - DEL MRE11A ENST00000323929 human ensembl 74_37 -1 known frame_shift_del c.1532 p.N511fs 0.998 pirsf_DNA_repair_Mre11 pfam_Mre11_DNA-bd,pfam_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11 - no_errors MRE11A HGNC ENSG00000020922 71 0 0 46 16 25.8065 CEP57 0 genome.wustl.edu 37 11 95555113 95555113 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 11 95555113 95555113 A - DEL CEP57 ENST00000325542 human ensembl 74_37 +1 known frame_shift_del c.778 p.K262fs 1.000 pfam_Cep57_MT-bd_dom pfam_Cep57_MT-bd_dom - no_errors CEP57 HGNC ENSG00000166037 77 0 0 48 10 17.2414 UTP20 0 genome.wustl.edu 37 12 101680157 101680157 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 101680157 101680157 T - DEL UTP20 ENST00000261637 human ensembl 74_37 +1 known frame_shift_del c.385 p.L131fs 1.000 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 219 0 0 186 41 18.0617 MTERFD3 0 genome.wustl.edu 37 12 107371846 107371846 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 107371846 107371846 T - DEL MTERFD3 ENST00000240050 human ensembl 74_37 -1 known frame_shift_del c.647 p.N216fs 1.000 pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERFD3 HGNC ENSG00000120832 88 0 0 48 11 18.6441 ASCL4 0 genome.wustl.edu 37 12 108169097 108169097 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 108169097 108169097 C - DEL ASCL4 ENST00000342331 human ensembl 74_37 +1 known frame_shift_del c.105 p.L37fs 0.003 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ASCL4 HGNC ENSG00000187855 27 0 0 14 5 26.3158 TAS2R50 0 genome.wustl.edu 37 12 11139432 11139432 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 11139432 11139432 A - DEL TAS2R50 ENST00000506868 human ensembl 74_37 -1 known frame_shift_del c.28 p.S10fs 0.001 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R50 HGNC ENSG00000212126 87 0 0 80 12 13.0435 TMEM116 0 genome.wustl.edu 37 12 112369427 112369427 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 112369427 112369427 A - DEL TMEM116 ENST00000552374 human ensembl 74_37 -1 known frame_shift_del c.1012 p.*338fs 0.999 NULL prints_GCR1-cAMP_receptor - no_errors TMEM116 HGNC ENSG00000198270 108 0 0 96 8 7.69231 ERP29 0 genome.wustl.edu 37 12 112460287 112460288 + Frame_Shift_Ins INS - - G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 112460287 112460288 - G INS ERP29 ENST00000261735 human ensembl 74_37 +1 known frame_shift_ins c.617_618 p.K208fs 1.000:1.000 pfam_ER_p29_C,superfamily_ER_p29_C,pirsf_ER_p29 pfam_ERp29_N,pfam_ER_p29_C,superfamily_ER_p29_C,superfamily_Thioredoxin-like_fold,pirsf_ER_p29 - no_errors ERP29 HGNC ENSG00000089248 98 0 0 68 16 19.0476 OAS2 0 genome.wustl.edu 37 12 113433214 113433214 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 113433214 113433214 T - DEL OAS2 ENST00000342315 human ensembl 74_37 +1 known frame_shift_del c.562 p.F189fs 0.935 pfam_2-5-oligoAdlate_synth_1_dom2/C pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS2 HGNC ENSG00000111335 124 0 0 108 15 12.1951 RNF10 0 genome.wustl.edu 37 12 121014514 121014514 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 121014514 121014514 T - DEL RNF10 ENST00000535470 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors RNF10 HGNC ENSG00000022840 104 0 0 100 20 16.6667 CCDC92 0 genome.wustl.edu 37 12 124421800 124421800 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 124421800 124421800 G - DEL CCDC92 ENST00000238156 human ensembl 74_37 -1 known frame_shift_del c.801 p.I268fs 1.000 NULL NULL - no_errors CCDC92 HGNC ENSG00000119242 24 0 0 17 4 19.0476 UBC 0 genome.wustl.edu 37 12 125397670 125397671 + Frame_Shift_Del DEL CT CT - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 125397670 125397671 CT - DEL UBC ENST00000339647 human ensembl 74_37 -1 known frame_shift_del c.648_647 p.E216fs 1.000:1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBC HGNC ENSG00000150991 253 0 0 176 47 21.0762 RPL22P19 0 genome.wustl.edu 37 12 125420367 125420367 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 125420367 125420367 T - DEL RPL22P19 ENST00000480427 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RPL22P19 HGNC ENSG00000241129 18 0 0 13 4 23.5294 GPR19 0 genome.wustl.edu 37 12 12814274 12814274 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 12814274 12814274 T - DEL GPR19 ENST00000332427 human ensembl 74_37 -1 known frame_shift_del c.1109 p.N370fs 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR19 HGNC ENSG00000183150 198 1 0.502513 160 30 15.7895 EMP1 0 genome.wustl.edu 37 12 13364427 13364427 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 13364427 13364427 A - DEL EMP1 ENST00000542289 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors EMP1 HGNC ENSG00000134531 120 1 0.826446 100 38 27.5362 ATF7IP 0 genome.wustl.edu 37 12 14576873 14576874 + Frame_Shift_Ins INS - - A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 14576873 14576874 - A INS ATF7IP ENST00000261168 human ensembl 74_37 +1 known frame_shift_ins c.24_25 p.V10fs 1.000:1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 74 0 0 64 15 18.9873 C12orf60 0 genome.wustl.edu 37 12 14976481 14976481 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 14976481 14976481 A - DEL C12orf60 ENST00000330828 human ensembl 74_37 +1 known frame_shift_del c.612 p.K205fs 0.000 NULL NULL - no_errors C12orf60 HGNC ENSG00000182993 92 0 0 94 16 14.5455 LINC00477 0 genome.wustl.edu 37 12 24736562 24736562 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 24736562 24736562 A - DEL LINC00477 ENST00000483544 human ensembl 74_37 -1 known rna NULL NULL 0.301 - - - no_errors LINC00477 HGNC ENSG00000197503 90 0 0 73 5 6.41026 IPO8 0 genome.wustl.edu 37 12 30818767 30818767 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 30818767 30818767 T - DEL IPO8 ENST00000256079 human ensembl 74_37 -1 known frame_shift_del c.1234 p.M412fs 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 112 0 0 78 19 19.5876 FAM60A 0 genome.wustl.edu 37 12 31448178 31448178 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 31448178 31448178 T - DEL FAM60A ENST00000337682 human ensembl 74_37 -1 known frame_shift_del c.218 p.N73fs 1.000 NULL NULL - no_errors FAM60A HGNC ENSG00000139146 48 0 0 38 10 20.8333 ALG10 0 genome.wustl.edu 37 12 34179326 34179326 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 34179326 34179326 T - DEL ALG10 ENST00000266483 human ensembl 74_37 +1 known frame_shift_del c.898 p.S302fs 0.975 pfam_Alg10,pirsf_Alg10 pfam_Alg10,pirsf_Alg10 - no_errors ALG10 HGNC ENSG00000139133 223 0 0 157 39 19.898 ALG10B 0 genome.wustl.edu 37 12 38714473 38714473 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 38714473 38714473 T - DEL ALG10B ENST00000308742 human ensembl 74_37 +1 known frame_shift_del c.880 p.S296fs 1.000 pfam_Alg10,pirsf_Alg10 pfam_Alg10,pirsf_Alg10 - no_errors ALG10B HGNC ENSG00000175548 218 0 0 165 34 17.0854 SCAF11 0 genome.wustl.edu 37 12 46320481 46320482 + Frame_Shift_Ins INS - - T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 46320481 46320482 - T INS SCAF11 ENST00000369367 human ensembl 74_37 -1 known frame_shift_ins c.3003_3002 p.N1001fs 0.545:0.856 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC ENSG00000139218 201 1 0.49505 164 41 20 SLC38A4 0 genome.wustl.edu 37 12 47170771 47170771 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 47170771 47170771 T - DEL SLC38A4 ENST00000266579 human ensembl 74_37 -1 known frame_shift_del c.1090 p.M364fs 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A4 HGNC ENSG00000139209 122 0 0 89 23 20.5357 NDUFA9 0 genome.wustl.edu 37 12 4794302 4794303 + Frame_Shift_Del DEL AA AA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 4794302 4794303 AA - DEL NDUFA9 ENST00000540688 human ensembl 74_37 +1 putative frame_shift_del c.51_52 p.N21fs 0.000:0.000 NULL NULL - no_errors NDUFA9 HGNC ENSG00000139180 12 0 0 6 6 50 CCNT1 0 genome.wustl.edu 37 12 49087682 49087682 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 49087682 49087682 T - DEL CCNT1 ENST00000261900 human ensembl 74_37 -1 known frame_shift_del c.1315 p.M439fs 1.000 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT1 HGNC ENSG00000129315 109 0 0 75 19 20.2128 GALNT6 0 genome.wustl.edu 37 12 51773457 51773459 + In_Frame_Del DEL CCT CCT - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 51773457 51773459 CCT - DEL GALNT6 ENST00000356317 human ensembl 74_37 -1 known in_frame_del c.109_107 p.E36in_frame_del 0.951:0.927:0.936 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT6 HGNC ENSG00000139629 64 0 0 57 6 9.52381 SMUG1 0 genome.wustl.edu 37 12 54577401 54577402 + Frame_Shift_Ins INS - - C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 54577401 54577402 - C INS SMUG1 ENST00000505128 human ensembl 74_37 -1 novel frame_shift_ins c.324_323 p.S109fs 0.000:0.713 NULL superfamily_Uracil-DNA_glycosylase-like - no_errors SMUG1 HGNC ENSG00000123415 55 0 0 61 11 15.2778 OR6C75 0 genome.wustl.edu 37 12 55759486 55759486 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 55759486 55759486 T - DEL OR6C75 ENST00000343399 human ensembl 74_37 +1 known frame_shift_del c.592 p.L200fs 0.582 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 114 0 0 105 26 19.8473 STAT2 0 genome.wustl.edu 37 12 56742816 56742817 + Frame_Shift_Ins INS - - G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 56742816 56742817 - G INS STAT2 ENST00000314128 human ensembl 74_37 -1 known frame_shift_ins c.1468_1467 p.K489fs 0.000:0.000 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_STAT2_C,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 STAT2 HGNC ENSG00000170581 81 0 0 49 10 16.9492 MYO1A 0 genome.wustl.edu 37 12 57422573 57422573 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 57422573 57422573 T - DEL MYO1A ENST00000300119 human ensembl 74_37 -1 known frame_shift_del c.3098 p.K1033fs 1.000 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1A HGNC ENSG00000166866 126 0 0 94 20 17.5439 STAT6 0 genome.wustl.edu 37 12 57499094 57499094 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 57499094 57499094 G - DEL STAT6 ENST00000300134 human ensembl 74_37 -1 known frame_shift_del c.841 p.Q281fs 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 46 0 0 45 4 8.16327 LRP1 0 genome.wustl.edu 37 12 57603939 57603940 + Frame_Shift_Ins INS - - C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 57603939 57603940 - C INS LRP1 ENST00000243077 human ensembl 74_37 +1 known frame_shift_ins c.12567_12568 p.D4192fs 0.037:0.113 superfamily_Growth_fac_rcpt_N_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 50 0 0 21 3 12.5 B4GALNT1 0 genome.wustl.edu 37 12 58025103 58025103 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 58025103 58025103 C - DEL B4GALNT1 ENST00000341156 human ensembl 74_37 -1 known frame_shift_del c.263 p.G88fs 0.099 pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT1 HGNC ENSG00000135454 82 0 0 62 14 18.4211 CYP27B1 0 genome.wustl.edu 37 12 58160653 58160654 + Frame_Shift_Ins INS - - C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 58160653 58160654 - C INS CYP27B1 ENST00000228606 human ensembl 74_37 -1 known frame_shift_ins c.172_171 p.L57fs 0.999:0.430 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP27B1 HGNC ENSG00000111012 69 0 0 60 8 11.7647 METTL21B 0 genome.wustl.edu 37 12 58174037 58174037 + Splice_Site DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 58174037 58174037 G - DEL METTL21B ENST00000300209 human ensembl 74_37 +1 known splice_site_del c.290-1 e3-1 1.000 - - - no_errors METTL21B HGNC ENSG00000123427 52 0 0 32 7 17.9487 MON2 0 genome.wustl.edu 37 12 62946678 62946678 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 62946678 62946678 T - DEL MON2 ENST00000393630 human ensembl 74_37 +1 known frame_shift_del c.2937 p.F981fs 1.000 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold - no_errors MON2 HGNC ENSG00000061987 114 0 0 78 28 26.4151 CD9 0 genome.wustl.edu 37 12 6347089 6347089 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 6347089 6347089 T - DEL CD9 ENST00000481267 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors CD9 HGNC ENSG00000010278 16 0 0 11 2 15.3846 AVPR1A 0 genome.wustl.edu 37 12 63541343 63541343 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 63541343 63541343 A - DEL AVPR1A ENST00000299178 human ensembl 74_37 -1 known frame_shift_del c.1053 p.F351fs 0.998 pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR1A HGNC ENSG00000166148 157 0 0 136 22 13.9241 TNFRSF1A 0 genome.wustl.edu 37 12 6439819 6439821 + In_Frame_Del DEL GAG GAG - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 6439819 6439821 GAG - DEL TNFRSF1A ENST00000162749 human ensembl 74_37 -1 known in_frame_del c.684_682 p.L228in_frame_del 0.016:0.008:0.000 NULL pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1A - no_errors TNFRSF1A HGNC ENSG00000067182 88 0 0 58 9 13.4328 SRGAP1 0 genome.wustl.edu 37 12 64491024 64491024 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 64491024 64491024 A - DEL SRGAP1 ENST00000355086 human ensembl 74_37 +1 known frame_shift_del c.1682 p.N562fs 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 50 0 0 40 7 14.8936 TBK1 0 genome.wustl.edu 37 12 64875701 64875701 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 64875701 64875701 T - DEL TBK1 ENST00000331710 human ensembl 74_37 +1 known frame_shift_del c.892 p.F299fs 1.000 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 TBK1 HGNC ENSG00000183735 86 0 0 72 18 20 TBC1D30 0 genome.wustl.edu 37 12 65269557 65269557 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 65269557 65269557 A - DEL TBC1D30 ENST00000229088 human ensembl 74_37 +1 known frame_shift_del c.2764 p.K923fs 0.974 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D30 HGNC ENSG00000111490 18 0 0 13 3 18.75 TMBIM4 0 genome.wustl.edu 37 12 66531937 66531937 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 66531937 66531937 A - DEL TMBIM4 ENST00000358230 human ensembl 74_37 -1 known frame_shift_del c.520 p.Y174fs 0.028 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors TMBIM4 HGNC ENSG00000155957 65 0 0 44 8 15.3846 CHD4 0 genome.wustl.edu 37 12 6711546 6711546 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 6711546 6711546 T - DEL CHD4 ENST00000309577 human ensembl 74_37 -1 known frame_shift_del c.218 p.K73fs 1.000 NULL 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 222 1 0.44843 152 24 13.6364 COPS7A 0 genome.wustl.edu 37 12 6839847 6839847 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 6839847 6839847 A - DEL COPS7A ENST00000229251 human ensembl 74_37 +1 known frame_shift_del c.649 p.T219fs 0.969 NULL pfam_PCI_dom,smart_PCI_dom - no_errors COPS7A HGNC ENSG00000111652 69 0 0 46 6 11.5385 LOC100507250 0 genome.wustl.edu 37 12 69079471 69079473 + RNA DEL AAA AAA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 69079471 69079473 AAA - DEL LOC100507250 ENST00000433116 human ensembl 74_37 -1 known rna NULL NULL 0.042:0.051:0.054 - - - no_errors RP11-637A17.2 Clone_based_vega_gene ENSG00000247363 8 0 0 3 2 40 MDM2 0 genome.wustl.edu 37 12 69233090 69233090 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 69233090 69233090 C - DEL MDM2 ENST00000462284 human ensembl 74_37 +1 known frame_shift_del c.955 p.L321fs 1.000 pfam_Znf_RanBP2,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2 pfam_SWIB_MDM2_domain,pfam_Znf_RanBP2,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING - no_errors MDM2 HGNC ENSG00000135679 160 0 0 115 30 20.6897 TSPAN8 0 genome.wustl.edu 37 12 71523157 71523157 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 71523157 71523157 T - DEL TSPAN8 ENST00000247829 human ensembl 74_37 -1 known frame_shift_del c.614 p.N205fs 0.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN8 HGNC ENSG00000127324 54 0 0 37 11 22.9167 CEP290 0 genome.wustl.edu 37 12 88524079 88524079 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 88524079 88524079 T - DEL CEP290 ENST00000309041 human ensembl 74_37 -1 known frame_shift_del c.635 p.N212fs 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 202 0 0 143 31 17.8161 ATP2B1 0 genome.wustl.edu 37 12 90024431 90024431 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 90024431 90024431 A - DEL ATP2B1 ENST00000393164 human ensembl 74_37 -1 putative frame_shift_del c.8 p.L3fs 0.011 pfam_ATPase_P-typ_transduc_dom_A pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B1 HGNC ENSG00000070961 80 0 0 52 3 5.45455 A2M 0 genome.wustl.edu 37 12 9262560 9262560 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 9262560 9262560 A - DEL A2M ENST00000318602 human ensembl 74_37 -1 known frame_shift_del c.576 p.L194fs 0.030 pfam_A2M_N pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 165 0 0 150 29 16.2011 VEZT 0 genome.wustl.edu 37 12 95650969 95650969 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 95650969 95650969 T - DEL VEZT ENST00000436874 human ensembl 74_37 +1 known frame_shift_del c.212 p.S74fs 0.065 NULL NULL - no_errors VEZT HGNC ENSG00000028203 35 0 0 19 5 20.8333 USP44 0 genome.wustl.edu 37 12 95927128 95927128 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 95927128 95927128 A - DEL USP44 ENST00000258499 human ensembl 74_37 -1 known frame_shift_del c.905 p.L302fs 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP44 HGNC ENSG00000136014 78 0 0 52 5 8.77193 C12orf55 0 genome.wustl.edu 37 12 97078974 97078974 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 12 97078974 97078974 G - DEL C12orf55 ENST00000524981 human ensembl 74_37 +1 putative frame_shift_del c.5972 p.C1993fs 1.000 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 80 0 0 51 9 15 TM9SF2 0 genome.wustl.edu 37 13 100192902 100192902 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 100192902 100192902 T - DEL TM9SF2 ENST00000466555 human ensembl 74_37 +1 known rna NULL NULL 0.045 - - - no_errors TM9SF2 HGNC ENSG00000125304 43 0 0 36 7 16.2791 NALCN 0 genome.wustl.edu 37 13 101760070 101760070 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 101760070 101760070 T - DEL NALCN ENST00000251127 human ensembl 74_37 -1 known frame_shift_del c.2435 p.K812fs 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 107 0 0 76 19 20 ERCC5 0 genome.wustl.edu 37 13 103524612 103524612 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 103524612 103524612 A - DEL ERCC5 ENST00000355739 human ensembl 74_37 +1 known frame_shift_del c.2743 p.K917fs 1.000 superfamily_5-3_exonuclease_C,tigrfam_XPG/Rad2_eukaryotes pfam_XPG_DNA_repair_N,pfam_XPG-I_dom,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2_eukaryotes,prints_XPG/Rad2,tigrfam_XPG/Rad2_eukaryotes - no_errors ERCC5 HGNC ENSG00000134899 83 0 0 55 16 22.5352 FAM155A 0 genome.wustl.edu 37 13 108518338 108518338 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 108518338 108518338 C - DEL FAM155A ENST00000375915 human ensembl 74_37 -1 known frame_shift_del c.607 p.D203fs 0.252 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 72 0 0 50 11 18.0328 COL4A2 0 genome.wustl.edu 37 13 111114439 111114439 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 111114439 111114439 T - DEL COL4A2 ENST00000478681 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors COL4A2 HGNC ENSG00000134871 38 0 0 20 6 23.0769 GAS6 0 genome.wustl.edu 37 13 114542718 114542718 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 114542718 114542718 C - DEL GAS6 ENST00000357389 human ensembl 74_37 -1 known frame_shift_del c.449 p.G150fs 0.997 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors GAS6 HGNC ENSG00000183087 92 0 0 35 14 28.5714 MPHOSPH8 0 genome.wustl.edu 37 13 20245322 20245322 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 20245322 20245322 T - DEL MPHOSPH8 ENST00000496525 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MPHOSPH8 HGNC ENSG00000196199 33 0 0 15 5 25 RNF6 0 genome.wustl.edu 37 13 26788241 26788241 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 26788241 26788241 A - DEL RNF6 ENST00000346166 human ensembl 74_37 -1 known frame_shift_del c.1778 p.L593fs 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF6 HGNC ENSG00000127870 173 0 0 131 12 8.39161 HMGB1 0 genome.wustl.edu 37 13 31037599 31037600 + RNA INS - - T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 31037599 31037600 - T INS HMGB1 ENST00000468384 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.001 - - - no_errors HMGB1 HGNC ENSG00000189403 60 0 0 50 14 21.875 BRCA2 0 genome.wustl.edu 37 13 32911443 32911443 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 32911443 32911443 A - DEL BRCA2 ENST00000380152 human ensembl 74_37 +1 known frame_shift_del c.2951 p.N986fs 0.001 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 112 0 0 109 12 9.91736 PDS5B 0 genome.wustl.edu 37 13 33338694 33338694 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 33338694 33338694 A - DEL PDS5B ENST00000315596 human ensembl 74_37 +1 known frame_shift_del c.3586 p.S1198fs 1.000 NULL superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 63 0 0 61 10 14.0845 NBEA 0 genome.wustl.edu 37 13 35733663 35733663 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 35733663 35733663 A - DEL NBEA ENST00000310336 human ensembl 74_37 +1 known frame_shift_del c.3355 p.N1121fs 1.000 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 79 0 0 46 10 17.8571 SPG20 0 genome.wustl.edu 37 13 36909271 36909272 + Frame_Shift_Ins INS - - A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 36909271 36909272 - A INS SPG20 ENST00000355182 human ensembl 74_37 -1 known frame_shift_ins c.697_696 p.V232fs 1.000:1.000 NULL pfam_Senescence/spartin,pfam_MIT,smart_MIT - no_errors SPG20 HGNC ENSG00000133104 148 0 0 79 16 16.8421 DGKH 0 genome.wustl.edu 37 13 42729890 42729891 + Frame_Shift_Del DEL AG AG - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 42729890 42729891 AG - DEL DGKH ENST00000337343 human ensembl 74_37 +1 known frame_shift_del c.577_578 p.L196fs 0.918:0.997 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKH HGNC ENSG00000102780 91 0 0 52 12 18.75 CPB2 0 genome.wustl.edu 37 13 46658431 46658431 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 46658431 46658431 T - DEL CPB2 ENST00000181383 human ensembl 74_37 -1 known frame_shift_del c.198 p.K66fs 0.677 pfam_Prot_inh_M14A,superfamily_Prot_inh_propept pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPB2 HGNC ENSG00000080618 138 0 0 85 18 17.4757 SETDB2 0 genome.wustl.edu 37 13 50065970 50065970 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 50065970 50065970 A - DEL SETDB2 ENST00000317257 human ensembl 74_37 +1 known frame_shift_del c.2145 p.I718fs 0.859 NULL pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom - no_errors SETDB2 HGNC ENSG00000136169 74 0 0 54 11 16.9231 EBPL 0 genome.wustl.edu 37 13 50235209 50235209 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 50235209 50235209 A - DEL EBPL ENST00000242827 human ensembl 74_37 -1 known frame_shift_del c.516 p.F172fs 0.997 pfam_EBP pfam_EBP - no_errors EBPL HGNC ENSG00000123179 56 0 0 49 9 15.5172 KPNA3 0 genome.wustl.edu 37 13 50279819 50279819 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 50279819 50279819 T - DEL KPNA3 ENST00000261667 human ensembl 74_37 -1 known frame_shift_del c.1310 p.N437fs 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA3 HGNC ENSG00000102753 174 0 0 113 20 15.0376 ALG11 0 genome.wustl.edu 37 13 52598258 52598258 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 52598258 52598258 T - DEL ALG11 ENST00000521508 human ensembl 74_37 +1 known frame_shift_del c.392 p.L133fs 1.000 NULL pfam_Glyco_trans_1 - no_errors ALG11 HGNC ENSG00000253710 128 0 0 75 29 27.8846 CKAP2 0 genome.wustl.edu 37 13 53049034 53049034 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 53049034 53049034 A - DEL CKAP2 ENST00000378037 human ensembl 74_37 +1 known frame_shift_del c.1810 p.K606fs 0.999 NULL NULL - no_errors CKAP2 HGNC ENSG00000136108 58 0 0 55 7 11.2903 FBXL3 0 genome.wustl.edu 37 13 77581683 77581683 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 77581683 77581683 A - DEL FBXL3 ENST00000355619 human ensembl 74_37 -1 known frame_shift_del c.884 p.L295fs 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom - no_errors FBXL3 HGNC ENSG00000005812 86 0 0 77 5 6.09756 DOCK9 0 genome.wustl.edu 37 13 99540398 99540398 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 13 99540398 99540398 A - DEL DOCK9 ENST00000473165 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DOCK9 HGNC ENSG00000088387 21 0 0 10 5 33.3333 OR4K1 0 genome.wustl.edu 37 14 20403904 20403904 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 20403904 20403904 T - DEL OR4K1 ENST00000285600 human ensembl 74_37 +1 known frame_shift_del c.79 p.F28fs 0.957 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K1 HGNC ENSG00000155249 559 0 0 432 42 8.86076 TINF2 0 genome.wustl.edu 37 14 24709343 24709344 + Frame_Shift_Del DEL CA CA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 24709343 24709344 CA - DEL TINF2 ENST00000267415 human ensembl 74_37 -1 known frame_shift_del c.1148_1147 p.C383fs 0.735:0.692 NULL NULL - no_errors TINF2 HGNC ENSG00000092330 217 0 0 163 37 18.5 TGM1 0 genome.wustl.edu 37 14 24718610 24718610 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 24718610 24718610 G - DEL TGM1 ENST00000206765 human ensembl 74_37 -1 known frame_shift_del c.2363 p.P788fs 0.530 superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM1 HGNC ENSG00000092295 60 0 0 39 7 15.2174 NYNRIN 0 genome.wustl.edu 37 14 24879247 24879247 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 24879247 24879247 G - DEL NYNRIN ENST00000382554 human ensembl 74_37 +1 known frame_shift_del c.2247 p.A751fs 0.035 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 23 0 0 19 4 17.3913 KLHL28 0 genome.wustl.edu 37 14 45414534 45414534 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 45414534 45414534 A - DEL KLHL28 ENST00000396128 human ensembl 74_37 -1 known frame_shift_del c.598 p.Y200fs 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL28 HGNC ENSG00000179454 92 0 0 73 17 18.8889 MIS18BP1 0 genome.wustl.edu 37 14 45693722 45693722 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 45693722 45693722 T - DEL MIS18BP1 ENST00000310806 human ensembl 74_37 -1 known frame_shift_del c.2068 p.S690fs 0.797 NULL pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 126 0 0 98 19 16.2393 WDHD1 0 genome.wustl.edu 37 14 55433239 55433239 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 55433239 55433239 T - DEL WDHD1 ENST00000360586 human ensembl 74_37 -1 known frame_shift_del c.2264 p.N755fs 0.995 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 86 0 0 46 10 17.8571 ENSG00000258856 0 genome.wustl.edu 37 14 58097302 58097302 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 58097302 58097302 A - DEL ENSG00000258856 ENST00000600311 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CTD-2325K12.1 Clone_based_vega_gene ENSG00000258856 175 0 0 156 36 18.75 KIAA0586 0 genome.wustl.edu 37 14 58895013 58895013 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 58895013 58895013 A - DEL KIAA0586 ENST00000261244 human ensembl 74_37 +1 known frame_shift_del c.31 p.K13fs 0.000 NULL NULL - no_errors KIAA0586 HGNC ENSG00000100578 75 0 0 52 8 13.3333 DAAM1 0 genome.wustl.edu 37 14 59835592 59835592 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 59835592 59835592 T - DEL DAAM1 ENST00000553966 human ensembl 74_37 +1 known rna NULL NULL 0.059 - - - no_errors DAAM1 HGNC ENSG00000100592 47 0 0 40 8 16.6667 SYNE2 0 genome.wustl.edu 37 14 64519480 64519480 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 64519480 64519480 A - DEL SYNE2 ENST00000358025 human ensembl 74_37 +1 known frame_shift_del c.8849 p.T2952fs 0.205 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 69 0 0 50 11 18.0328 SYNE2 0 genome.wustl.edu 37 14 64519888 64519888 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 64519888 64519888 T - DEL SYNE2 ENST00000358025 human ensembl 74_37 +1 known frame_shift_del c.9257 p.L3087fs 0.505 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 68 0 0 65 14 17.7215 SYNE2 0 genome.wustl.edu 37 14 64634076 64634081 + In_Frame_Del DEL GGCCAC GGCCAC - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 GGCCAC GGCCAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 64634076 64634081 GGCCAC - DEL SYNE2 ENST00000358025 human ensembl 74_37 +1 known in_frame_del c.16731_16736 p.TA5581in_frame_del 0.994:1.000:1.000:0.974:0.989:0.986 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 65 0 0 40 10 20 C14orf169 0 genome.wustl.edu 37 14 73959864 73959864 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 73959864 73959864 A - DEL C14orf169 ENST00000531973 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C14orf169 HGNC ENSG00000255242 68 0 0 56 16 22.2222 ELMSAN1 0 genome.wustl.edu 37 14 74206605 74206606 + Frame_Shift_Ins INS - - G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 74206605 74206606 - G INS ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known frame_shift_ins c.107_106 p.Q36fs 0.675:0.686 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 58 0 0 47 9 16.0714 MLH3 0 genome.wustl.edu 37 14 75514833 75514833 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 75514833 75514833 A - DEL MLH3 ENST00000355774 human ensembl 74_37 -1 known frame_shift_del c.1526 p.L509fs 0.000 NULL pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_dom,smart_MutL_C - no_errors MLH3 HGNC ENSG00000119684 96 0 0 85 8 8.60215 TTLL5 0 genome.wustl.edu 37 14 76420882 76420882 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 76420882 76420882 T - DEL TTLL5 ENST00000554972 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors TTLL5 HGNC ENSG00000119685 55 0 0 41 9 18 STON2 0 genome.wustl.edu 37 14 81743374 81743374 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 81743374 81743374 C - DEL STON2 ENST00000267540 human ensembl 74_37 -1 known frame_shift_del c.2281 p.A761fs 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON2 HGNC ENSG00000140022 112 0 0 105 7 6.25 PTPN21 0 genome.wustl.edu 37 14 88940113 88940113 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 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 111 0 0 83 13 13.5417 EML5 0 genome.wustl.edu 37 14 89154769 89154769 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 89154769 89154769 T - DEL EML5 ENST00000554922 human ensembl 74_37 -1 known frame_shift_del c.2588 p.N863fs 0.034 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML5 HGNC ENSG00000165521 291 0 0 239 40 14.3369 BTBD7 0 genome.wustl.edu 37 14 93730184 93730184 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 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 123 0 0 109 21 16.1538 SERPINA1 0 genome.wustl.edu 37 14 94844885 94844885 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 94844885 94844885 G - DEL SERPINA1 ENST00000355814 human ensembl 74_37 -1 known frame_shift_del c.1158 p.E387fs 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA1 HGNC ENSG00000197249 88 0 0 55 10 15.3846 ENSG00000257275 0 genome.wustl.edu 37 14 96178149 96178150 + RNA DEL AG AG - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 14 96178149 96178150 AG - DEL ENSG00000257275 ENST00000547644 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors RP11-164H13.1 Clone_based_vega_gene ENSG00000257275 25 0 0 26 3 10.3448 NIPA2 0 genome.wustl.edu 37 15 23021239 23021239 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 23021239 23021239 T - DEL NIPA2 ENST00000337451 human ensembl 74_37 -1 known frame_shift_del c.98 p.K33fs 1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPA2 HGNC ENSG00000140157 138 0 0 142 11 7.18954 SNHG14 0 genome.wustl.edu 37 15 25227367 25227367 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 25227367 25227367 T - DEL SNHG14 ENST00000551361 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 14 0 0 8 5 38.4615 SNORD116-6 0 genome.wustl.edu 37 15 25310193 25310193 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 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 174 0 0 69 57 45.2381 SNORD116-26 0 genome.wustl.edu 37 15 25344663 25344664 + RNA DEL AA AA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 25344663 25344664 AA - DEL SNORD116-26 ENST00000516006 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors SNORD116-26 HGNC ENSG00000251815 96 0 0 91 17 15.7407 HERC2 0 genome.wustl.edu 37 15 28525215 28525215 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 28525215 28525215 T - DEL HERC2 ENST00000261609 human ensembl 74_37 -1 known frame_shift_del c.541 p.S181fs 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 74 0 0 52 8 13.3333 FAN1 0 genome.wustl.edu 37 15 31196894 31196894 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 31196894 31196894 A - DEL FAN1 ENST00000362065 human ensembl 74_37 +1 known frame_shift_del c.28 p.R12fs 0.000 NULL pfam_VRR_NUC,smart_Znf_Rad18_put - no_errors FAN1 HGNC ENSG00000198690 232 1 0.429185 179 39 17.8899 CHRM5 0 genome.wustl.edu 37 15 34355101 34355102 + Frame_Shift_Ins INS - - A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 34355101 34355102 - A INS CHRM5 ENST00000383263 human ensembl 74_37 +1 known frame_shift_ins c.183_184 p.T62fs 0.986:1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M5_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM5 HGNC ENSG00000184984 82 0 0 69 4 5.47945 CASC5 0 genome.wustl.edu 37 15 40917784 40917785 + Frame_Shift_Ins INS - - A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 40917784 40917785 - A INS CASC5 ENST00000346991 human ensembl 74_37 +1 known frame_shift_ins c.5400_5401 p.I1802fs 1.000:1.000 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 97 0 0 56 14 20 NUSAP1 0 genome.wustl.edu 37 15 41672442 41672442 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 41672442 41672442 T - DEL NUSAP1 ENST00000558123 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NUSAP1 HGNC ENSG00000137804 10 0 0 4 7 63.6364 MAP1A 0 genome.wustl.edu 37 15 43819858 43819858 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 43819858 43819858 C - DEL MAP1A ENST00000399453 human ensembl 74_37 +1 known frame_shift_del c.6187 p.R2065fs 0.638 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 46 0 0 41 9 18 SPG11 0 genome.wustl.edu 37 15 44905698 44905698 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 44905698 44905698 T - DEL SPG11 ENST00000261866 human ensembl 74_37 -1 known frame_shift_del c.3075 p.E1026fs 1.000 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 75 0 0 66 12 15.3846 ENSG00000259185 0 genome.wustl.edu 37 15 52201131 52201131 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 52201131 52201131 T - DEL ENSG00000259185 ENST00000559302 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-56B16.4 Clone_based_vega_gene ENSG00000259185 19 0 0 6 8 57.1429 PRTG 0 genome.wustl.edu 37 15 55912892 55912892 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 55912892 55912892 A - DEL PRTG ENST00000389286 human ensembl 74_37 -1 known frame_shift_del c.3167 p.F1056fs 1.000 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 PRTG HGNC ENSG00000166450 84 0 0 81 9 10 NARG2 0 genome.wustl.edu 37 15 60745782 60745783 + Frame_Shift_Del DEL AA AA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 60745782 60745783 AA - DEL NARG2 ENST00000561114 human ensembl 74_37 -1 putative frame_shift_del c.1145_1144 p.F382fs 0.000:0.000 NULL NULL - no_errors NARG2 HGNC ENSG00000128915 47 0 0 37 9 19.5652 ZNF609 0 genome.wustl.edu 37 15 64967247 64967247 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 64967247 64967247 A - DEL ZNF609 ENST00000326648 human ensembl 74_37 +1 known frame_shift_del c.2194 p.K734fs 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 268 1 0.371747 214 43 16.7315 TIPIN 0 genome.wustl.edu 37 15 66672095 66672095 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 66672095 66672095 T - DEL TIPIN ENST00000561773 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors TIPIN HGNC ENSG00000075131 69 0 0 56 11 16.4179 PIAS1 0 genome.wustl.edu 37 15 68438921 68438921 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 68438921 68438921 A - DEL PIAS1 ENST00000249636 human ensembl 74_37 +1 known frame_shift_del c.711 p.N239fs 0.999 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS1 HGNC ENSG00000033800 78 0 0 51 24 32 NOX5 0 genome.wustl.edu 37 15 69331226 69331226 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 69331226 69331226 T - DEL NOX5 ENST00000388866 human ensembl 74_37 +1 known frame_shift_del c.1401 p.H470fs 0.970 pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NOX5 HGNC ENSG00000255346 198 0 0 167 16 8.74317 MYO9A 0 genome.wustl.edu 37 15 72190580 72190580 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 72190580 72190580 A - DEL MYO9A ENST00000424560 human ensembl 74_37 -1 known frame_shift_del c.4264 p.Y1422fs 1.000 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 83 0 0 66 12 15.3846 SIN3A 0 genome.wustl.edu 37 15 75684749 75684749 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 75684749 75684749 A - DEL SIN3A ENST00000360439 human ensembl 74_37 -1 known frame_shift_del c.2685 p.F895fs 1.000 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3A HGNC ENSG00000169375 95 0 0 74 22 22.9167 KIAA1024 0 genome.wustl.edu 37 15 79750586 79750586 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 79750586 79750586 A - DEL KIAA1024 ENST00000305428 human ensembl 74_37 +1 known frame_shift_del c.2097 p.S702fs 0.527 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 175 1 0.568182 111 40 26.4901 FAH 0 genome.wustl.edu 37 15 80464493 80464493 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 80464493 80464493 T - DEL FAH ENST00000261755 human ensembl 74_37 +1 known frame_shift_del c.609 p.F205fs 1.000 pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel,tigrfam_Fumarylacetoacetase pfam_Fumarylacetoacetase_C,pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_C-rel,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase - no_errors FAH HGNC ENSG00000103876 122 0 0 65 17 20.7317 IQGAP1 0 genome.wustl.edu 37 15 91018049 91018049 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 15 91018049 91018049 T - DEL IQGAP1 ENST00000560020 human ensembl 74_37 +1 known rna NULL NULL 0.121 - - - no_errors IQGAP1 HGNC ENSG00000140575 12 0 0 7 3 30 RSL1D1 0 genome.wustl.edu 37 16 11931668 11931668 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 11931668 11931668 T - DEL RSL1D1 ENST00000571133 human ensembl 74_37 -1 known frame_shift_del c.1449 p.K483fs 0.009 NULL pfam_Ribosomal_L1/biogenesis,superfamily_Ribosomal_L1-like - no_errors RSL1D1 HGNC ENSG00000171490 156 0 0 125 32 20.3822 KIAA0430 0 genome.wustl.edu 37 16 15727651 15727651 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 15727651 15727651 G - DEL KIAA0430 ENST00000396368 human ensembl 74_37 -1 known frame_shift_del c.1056 p.I353fs 0.999 pfam_NYN_limkain-b1 pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 95 0 0 61 7 10.2941 MYH11 0 genome.wustl.edu 37 16 15802687 15802687 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 15802687 15802687 G - DEL MYH11 ENST00000452625 human ensembl 74_37 -1 known frame_shift_del c.5819 p.P1940fs 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH11 HGNC ENSG00000133392 17 0 0 7 5 41.6667 KNOP1 0 genome.wustl.edu 37 16 19725908 19725908 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 19725908 19725908 T - DEL KNOP1 ENST00000219837 human ensembl 74_37 -1 known frame_shift_del c.450 p.K150fs 0.988 NULL NULL - no_errors KNOP1 HGNC ENSG00000103550 124 0 0 72 7 8.86076 PDILT 0 genome.wustl.edu 37 16 20396001 20396001 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 20396001 20396001 A - DEL PDILT ENST00000302451 human ensembl 74_37 -1 known frame_shift_del c.375 p.F125fs 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors PDILT HGNC ENSG00000169340 225 0 0 188 38 16.8142 DNAH3 0 genome.wustl.edu 37 16 21080787 21080787 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 21080787 21080787 C - DEL DNAH3 ENST00000261383 human ensembl 74_37 -1 known frame_shift_del c.3330 p.R1111fs 0.999 pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 144 0 0 106 23 17.8295 GTF3C1 0 genome.wustl.edu 37 16 27509009 27509009 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 27509009 27509009 T - DEL GTF3C1 ENST00000356183 human ensembl 74_37 -1 known frame_shift_del c.2299 p.S767fs 0.542 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 118 0 0 71 27 27.551 CREBBP 0 genome.wustl.edu 37 16 3817721 3817721 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 3817721 3817721 T - DEL CREBBP ENST00000262367 human ensembl 74_37 -1 known frame_shift_del c.3250 p.I1084fs 1.000 superfamily_Bromodomain,smart_Bromodomain pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 87 0 0 69 28 28.866 RBL2 0 genome.wustl.edu 37 16 53487517 53487517 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 53487517 53487517 A - DEL RBL2 ENST00000262133 human ensembl 74_37 +1 known frame_shift_del c.920 p.K309fs 1.000 NULL pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL2 HGNC ENSG00000103479 116 0 0 78 19 19.5876 SLC6A2 0 genome.wustl.edu 37 16 55727960 55727960 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 55727960 55727960 G - DEL SLC6A2 ENST00000219833 human ensembl 74_37 +1 known frame_shift_del c.957 p.A321fs 0.992 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline - no_errors SLC6A2 HGNC ENSG00000103546 132 0 0 96 9 8.57143 DKFZP434H168 0 genome.wustl.edu 37 16 56226639 56226640 + RNA DEL CA CA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 56226639 56226640 CA - DEL DKFZP434H168 ENST00000567381 human ensembl 74_37 -1 known rna NULL NULL 0.271:0.327 - - - no_errors CTD-2050B12.2 Clone_based_vega_gene ENSG00000261439 18 0 0 14 4 22.2222 CCDC113 0 genome.wustl.edu 37 16 58287987 58287987 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 58287987 58287987 A - DEL CCDC113 ENST00000219299 human ensembl 74_37 +1 known frame_shift_del c.314 p.E107fs 0.046 NULL NULL - no_errors CCDC113 HGNC ENSG00000103021 117 0 0 101 6 5.60748 NFAT5 0 genome.wustl.edu 37 16 69726420 69726422 + In_Frame_Del DEL CAG CAG - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 69726420 69726422 CAG - DEL NFAT5 ENST00000432919 human ensembl 74_37 +1 known in_frame_del c.2692_2694 p.Q901in_frame_del 0.966:0.976:0.988 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC ENSG00000102908 42 0 0 44 4 8.33333 WDR90 0 genome.wustl.edu 37 16 709106 709106 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 709106 709106 C - DEL WDR90 ENST00000549091 human ensembl 74_37 +1 novel frame_shift_del c.3032 p.P1013fs 0.000 NULL pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 38 0 0 22 3 12 WWOX 0 genome.wustl.edu 37 16 78198099 78198099 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 78198099 78198099 T - DEL WWOX ENST00000566780 human ensembl 74_37 +1 known frame_shift_del c.429 p.F144fs 0.998 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_WW_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom,prints_Glc/ribitol_DH - no_errors WWOX HGNC ENSG00000186153 54 0 0 27 10 27.027 MSLN 0 genome.wustl.edu 37 16 815527 815527 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 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 22 0 0 9 4 30.7692 GSE1 0 genome.wustl.edu 37 16 85682289 85682290 + Frame_Shift_Ins INS - - C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 16 85682289 85682290 - C INS GSE1 ENST00000253458 human ensembl 74_37 +1 known frame_shift_ins c.358_359 p.V123fs 1.000:0.999 pfam_GSE-like pfam_GSE-like - no_errors GSE1 HGNC ENSG00000131149 45 0 0 27 6 18.1818 ZNF287 0 genome.wustl.edu 37 17 16455580 16455581 + Frame_Shift_Del DEL CA CA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 16455580 16455581 CA - DEL ZNF287 ENST00000395824 human ensembl 74_37 -1 known frame_shift_del c.1876_1875 p.C625fs 1.000:1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF287 HGNC ENSG00000141040 100 0 0 88 5 5.37634 TBC1D27 0 genome.wustl.edu 37 17 16828666 16828666 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 16828666 16828666 T - DEL TBC1D27 ENST00000261651 human ensembl 74_37 -1 known rna NULL NULL 0.938 - - - no_errors TBC1D27 HGNC ENSG00000128438 18 0 0 6 4 40 GID4 0 genome.wustl.edu 37 17 17957486 17957486 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 17957486 17957486 A - DEL GID4 ENST00000268719 human ensembl 74_37 +1 known frame_shift_del c.544 p.K183fs 1.000 pfam_Vacuolar_import/degrad_Vid24 pfam_Vacuolar_import/degrad_Vid24 - no_errors GID4 HGNC ENSG00000141034 133 0 0 86 23 21.1009 SPECC1 0 genome.wustl.edu 37 17 20108263 20108263 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 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 171 0 0 111 56 33.5329 NLK 0 genome.wustl.edu 37 17 26449740 26449740 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 26449740 26449740 T - DEL NLK ENST00000407008 human ensembl 74_37 +1 known frame_shift_del c.570 p.F192fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NLK HGNC ENSG00000087095 114 0 0 89 32 26.4463 EFCAB5 0 genome.wustl.edu 37 17 28296061 28296061 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 28296061 28296061 A - DEL EFCAB5 ENST00000394835 human ensembl 74_37 +1 known frame_shift_del c.443 p.K150fs 0.000 NULL pfscan_EF_hand_dom - no_errors EFCAB5 HGNC ENSG00000176927 30 0 0 33 15 31.25 NSRP1 0 genome.wustl.edu 37 17 28505167 28505167 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 28505167 28505167 A - DEL NSRP1 ENST00000247026 human ensembl 74_37 +1 known frame_shift_del c.250 p.K86fs 1.000 pfam_DUF2040 pfam_DUF2040 - no_errors NSRP1 HGNC ENSG00000126653 87 0 0 72 10 12.1951 CCT6B 0 genome.wustl.edu 37 17 33255998 33255998 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 33255998 33255998 T - DEL CCT6B ENST00000314144 human ensembl 74_37 -1 known frame_shift_del c.1506 p.K502fs 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,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 CCT6B HGNC ENSG00000132141 73 0 0 66 4 5.71429 TOP2A 0 genome.wustl.edu 37 17 38546381 38546381 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 38546381 38546381 T - DEL TOP2A ENST00000423485 human ensembl 74_37 -1 known frame_shift_del c.4303 p.R1435fs 0.997 pfam_DTHCT pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2A HGNC ENSG00000131747 43 0 0 31 11 26.1905 DNAJC7 0 genome.wustl.edu 37 17 40134398 40134398 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 40134398 40134398 T - DEL DNAJC7 ENST00000457167 human ensembl 74_37 -1 known frame_shift_del c.1106 p.N369fs 1.000 NULL pfam_TPR_1,pfam_TPR_2,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_TPR_repeat,smart_DnaJ_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC7 HGNC ENSG00000168259 133 0 0 86 41 32.2835 PLCD3 0 genome.wustl.edu 37 17 43195797 43195797 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 43195797 43195797 C - DEL PLCD3 ENST00000322765 human ensembl 74_37 -1 known frame_shift_del c.976 p.A326fs 1.000 pfam_PLipase_C_EF-hand-like pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD3 HGNC ENSG00000161714 67 0 0 49 14 22.2222 ARHGAP27 0 genome.wustl.edu 37 17 43480123 43480124 + Frame_Shift_Del DEL GA GA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 43480123 43480124 GA - DEL ARHGAP27 ENST00000428638 human ensembl 74_37 -1 known frame_shift_del c.1700_1699 p.S567fs 0.170:0.002 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_WW_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP27 HGNC ENSG00000159314 81 0 0 64 6 8.57143 EFCAB13 0 genome.wustl.edu 37 17 45473297 45473297 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 45473297 45473297 A - DEL EFCAB13 ENST00000331493 human ensembl 74_37 +1 known frame_shift_del c.1899 p.K635fs 0.580 NULL NULL - no_errors EFCAB13 HGNC ENSG00000178852 107 0 0 113 19 14.3939 TBX21 0 genome.wustl.edu 37 17 45822290 45822290 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 45822290 45822290 C - DEL TBX21 ENST00000177694 human ensembl 74_37 +1 known frame_shift_del c.1166 p.R391fs 0.039 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX21 HGNC ENSG00000073861 55 0 0 58 4 6.45161 ZMYND15 0 genome.wustl.edu 37 17 4644013 4644013 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 4644013 4644013 G - DEL ZMYND15 ENST00000433935 human ensembl 74_37 +1 known frame_shift_del c.170 p.V58fs 1.000 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND15 HGNC ENSG00000141497 16 0 0 17 4 19.0476 LOC100130950 0 genome.wustl.edu 37 17 5126839 5126839 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 5126839 5126839 T - DEL LOC100130950 ENST00000575601 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-333E1.1 Clone_based_vega_gene ENSG00000261879 65 0 0 37 14 27.451 ANKFN1 0 genome.wustl.edu 37 17 54543825 54543825 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 54543825 54543825 T - DEL ANKFN1 ENST00000318698 human ensembl 74_37 +1 known frame_shift_del c.1675 p.F560fs 0.996 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3 - no_errors ANKFN1 HGNC ENSG00000153930 90 0 0 74 7 8.64198 RNF43 0 genome.wustl.edu 37 17 56435094 56435094 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 56435094 56435094 A - DEL RNF43 ENST00000407977 human ensembl 74_37 -1 known frame_shift_del c.2043 p.H683fs 0.064 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 146 0 0 112 25 18.2482 RNF43 0 genome.wustl.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 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 102 0 0 61 17 21.7949 HSF5 0 genome.wustl.edu 37 17 56565340 56565340 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 56565340 56565340 C - DEL HSF5 ENST00000323777 human ensembl 74_37 -1 known frame_shift_del c.296 p.G99fs 0.197 pfam_HSF_DNA-bd,smart_HSF_DNA-bd pfam_HSF_DNA-bd,smart_HSF_DNA-bd - no_errors HSF5 HGNC ENSG00000176160 13 0 0 7 3 30 RPL12P38 0 genome.wustl.edu 37 17 58512419 58512419 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 58512419 58512419 A - DEL RPL12P38 ENST00000588627 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors RPL12P38 HGNC ENSG00000213228 14 0 0 12 8 40 TBX4 0 genome.wustl.edu 37 17 59556066 59556066 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 59556066 59556066 A - DEL TBX4 ENST00000393853 human ensembl 74_37 +1 known frame_shift_del c.628 p.N211fs 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX4 HGNC ENSG00000121075 165 0 0 108 24 18.1818 MIR633 0 genome.wustl.edu 37 17 61021673 61021673 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 61021673 61021673 A - DEL MIR633 ENST00000384821 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors MIR633 HGNC ENSG00000207552 13 0 0 8 4 33.3333 PITPNC1 0 genome.wustl.edu 37 17 65683214 65683214 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 65683214 65683214 A - DEL PITPNC1 ENST00000299954 human ensembl 74_37 +1 known frame_shift_del c.715 p.N240fs 1.000 pfam_PI_transfer pfam_PI_transfer,prints_PI_transfer - no_errors PITPNC1 HGNC ENSG00000154217 165 0 0 165 12 6.77966 ABCA10 0 genome.wustl.edu 37 17 67210910 67210910 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 67210910 67210910 A - DEL ABCA10 ENST00000269081 human ensembl 74_37 -1 known frame_shift_del c.941 p.F314fs 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 90 0 0 64 23 26.4368 ABCA5 0 genome.wustl.edu 37 17 67302912 67302912 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 67302912 67302912 T - DEL ABCA5 ENST00000392677 human ensembl 74_37 -1 known frame_shift_del c.742 p.I248fs 0.517 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 34 0 0 39 8 17.0213 BCL6B 0 genome.wustl.edu 37 17 6927858 6927858 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 6927858 6927858 C - DEL BCL6B ENST00000293805 human ensembl 74_37 +1 known frame_shift_del c.540 p.S183fs 0.003 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 BCL6B HGNC ENSG00000161940 99 0 0 78 6 7.14286 FDXR 0 genome.wustl.edu 37 17 72860240 72860240 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 72860240 72860240 G - DEL FDXR ENST00000455107 human ensembl 74_37 -1 known frame_shift_del c.900 p.F301fs 0.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors FDXR HGNC ENSG00000161513 47 0 0 16 4 20 EFNB3 0 genome.wustl.edu 37 17 7612856 7612856 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 17 7612856 7612856 C - DEL EFNB3 ENST00000226091 human ensembl 74_37 +1 known frame_shift_del c.985 p.Q331fs 1.000 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB3 HGNC ENSG00000108947 52 0 0 37 12 24.4898 TRAPPC8 0 genome.wustl.edu 37 18 29488331 29488331 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 29488331 29488331 T - DEL TRAPPC8 ENST00000283351 human ensembl 74_37 -1 known frame_shift_del c.1173 p.K391fs 1.000 NULL NULL - no_errors TRAPPC8 HGNC ENSG00000153339 67 0 0 68 6 8.10811 WBP11P1 0 genome.wustl.edu 37 18 30092751 30092752 + RNA INS - - A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 30092751 30092752 - A INS WBP11P1 ENST00000567636 human ensembl 74_37 +1 known rna NULL NULL 0.525:0.722 - - - no_errors WBP11P1 HGNC ENSG00000260389 74 0 0 63 22 25.8824 FHOD3 0 genome.wustl.edu 37 18 34205516 34205516 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 34205516 34205516 C - DEL FHOD3 ENST00000257209 human ensembl 74_37 +1 known frame_shift_del c.1000 p.S336fs 0.999 superfamily_ARM-type_fold pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 67 0 0 31 18 36.7347 CTIF 0 genome.wustl.edu 37 18 46163043 46163043 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 46163043 46163043 C - DEL CTIF ENST00000382998 human ensembl 74_37 +1 known frame_shift_del c.239 p.P82fs 0.778 NULL pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors CTIF HGNC ENSG00000134030 19 0 0 14 5 26.3158 ME2 0 genome.wustl.edu 37 18 48473598 48473598 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 48473598 48473598 T - DEL ME2 ENST00000585680 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ME2 HGNC ENSG00000082212 56 0 0 70 14 16.6667 ZCCHC2 0 genome.wustl.edu 37 18 60242530 60242530 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 60242530 60242530 T - DEL ZCCHC2 ENST00000269499 human ensembl 74_37 +1 known frame_shift_del c.3216 p.L1075fs 0.996 NULL pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC2 HGNC ENSG00000141664 51 0 0 40 18 31.0345 SERPINB10 0 genome.wustl.edu 37 18 61584739 61584739 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 61584739 61584739 A - DEL SERPINB10 ENST00000238508 human ensembl 74_37 +1 known frame_shift_del c.218 p.R76fs 0.998 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB10 HGNC ENSG00000242550 36 0 0 28 18 39.1304 RTTN 0 genome.wustl.edu 37 18 67697249 67697249 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 67697249 67697249 T - DEL RTTN ENST00000255674 human ensembl 74_37 -1 known frame_shift_del c.5744 p.K1915fs 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 118 0 0 116 27 18.8811 ENSG00000264475 0 genome.wustl.edu 37 18 7080101 7080102 + RNA INS - - A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 18 7080101 7080102 - A INS ENSG00000264475 ENST00000581502 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.013 - - - no_errors RP11-76K13.3 Clone_based_vega_gene ENSG00000264475 21 0 0 28 6 17.6471 SUGP1 0 genome.wustl.edu 37 19 19414748 19414748 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 19414748 19414748 G - DEL SUGP1 ENST00000334782 human ensembl 74_37 -1 known frame_shift_del c.643 p.H215fs 0.002 NULL NULL - no_errors SUGP1 HGNC ENSG00000105705 133 0 0 92 23 20 ZNF493 0 genome.wustl.edu 37 19 21607422 21607422 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 21607422 21607422 A - DEL ZNF493 ENST00000355504 human ensembl 74_37 +1 known frame_shift_del c.1577 p.K527fs 0.998 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF493 HGNC ENSG00000196268 73 0 0 59 15 20.2703 ZNF429 0 genome.wustl.edu 37 19 21720353 21720353 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 21720353 21720353 A - DEL ZNF429 ENST00000358491 human ensembl 74_37 +1 novel frame_shift_del c.1498 p.I502fs 0.909 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 ZNF429 HGNC ENSG00000197013 111 0 0 72 19 20.8791 ZNF43 0 genome.wustl.edu 37 19 21992323 21992323 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 21992323 21992323 T - DEL ZNF43 ENST00000354959 human ensembl 74_37 -1 known frame_shift_del c.516 p.K172fs 0.096 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF43 HGNC ENSG00000198521 36 0 0 33 11 25 ENSG00000221790 0 genome.wustl.edu 37 19 22785533 22785533 + RNA DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 22785533 22785533 G - DEL ENSG00000221790 ENST00000408863 human ensembl 74_37 +1 novel rna NULL NULL 0.006 - - - no_errors AC011467.1 Clone_based_ensembl_gene ENSG00000221790 72 0 0 43 6 12.2449 ZNF675 0 genome.wustl.edu 37 19 23836656 23836656 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 23836656 23836656 T - DEL ZNF675 ENST00000359788 human ensembl 74_37 -1 known frame_shift_del c.1079 p.N360fs 0.997 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 ZNF675 HGNC ENSG00000197372 83 0 0 66 17 20.4819 URI1 0 genome.wustl.edu 37 19 30428870 30428870 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 30428870 30428870 T - DEL URI1 ENST00000574766 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors URI1 HGNC ENSG00000105176 8 0 0 2 3 60 URI1 0 genome.wustl.edu 37 19 30496293 30496293 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 30496293 30496293 A - DEL URI1 ENST00000542441 human ensembl 74_37 +1 known frame_shift_del c.393 p.V134fs 0.993 pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin - no_errors URI1 HGNC ENSG00000105176 44 0 0 33 5 13.1579 TSHZ3 0 genome.wustl.edu 37 19 31769235 31769235 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 31769235 31769235 T - DEL TSHZ3 ENST00000240587 human ensembl 74_37 -1 known frame_shift_del c.1464 p.D489fs 0.971 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 269 0 0 219 38 14.786 C19orf40 0 genome.wustl.edu 37 19 33464997 33464997 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 33464997 33464997 A - DEL C19orf40 ENST00000588258 human ensembl 74_37 +1 known frame_shift_del c.275 p.T94fs 1.000 NULL superfamily_RuvA_2-like - no_errors C19orf40 HGNC ENSG00000131944 72 0 0 63 20 24.0964 KMT2B 0 genome.wustl.edu 37 19 36216189 36216189 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 36216189 36216189 C - DEL KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_del c.3597 p.P1201fs 0.130 pirsf_MeTrfase_trithorax,superfamily_Znf_FYVE_PHD,pfscan_Znf_PHD-finger 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 29 0 0 16 4 20 APLP1 0 genome.wustl.edu 37 19 36362782 36362782 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 36362782 36362782 C - DEL APLP1 ENST00000221891 human ensembl 74_37 +1 known frame_shift_del c.694 p.P233fs 0.997 NULL pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra,prints_Amyloid_glyco - no_errors APLP1 HGNC ENSG00000105290 68 0 0 37 13 26 CEACAM6 0 genome.wustl.edu 37 19 42259553 42259553 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 42259553 42259553 C - DEL CEACAM6 ENST00000199764 human ensembl 74_37 +1 known frame_shift_del c.7 p.S5fs 0.729 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM6 HGNC ENSG00000086548 141 0 0 109 8 6.83761 CEACAM3 0 genome.wustl.edu 37 19 42314895 42314895 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 42314895 42314895 C - DEL CEACAM3 ENST00000357396 human ensembl 74_37 +1 known frame_shift_del c.653 p.L220fs 0.002 NULL pfam_Ig_V-set - no_errors CEACAM3 HGNC ENSG00000170956 85 0 0 46 8 14.8148 ZNF180 0 genome.wustl.edu 37 19 44981225 44981225 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 44981225 44981225 T - DEL ZNF180 ENST00000221327 human ensembl 74_37 -1 known frame_shift_del c.1473 p.K491fs 0.997 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 ZNF180 HGNC ENSG00000167384 77 0 0 46 18 28.125 CD3EAP 0 genome.wustl.edu 37 19 45911872 45911872 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 45911872 45911872 A - DEL CD3EAP ENST00000589804 human ensembl 74_37 +1 known frame_shift_del c.652 p.N220fs 0.178 pfam_DNA-dir_RNA_pol1_su_RPA34 pfam_DNA-dir_RNA_pol1_su_RPA34 - no_errors CD3EAP HGNC ENSG00000117877 153 1 0.649351 107 12 10.084 TEAD2 0 genome.wustl.edu 37 19 49850473 49850473 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 49850473 49850473 G - DEL TEAD2 ENST00000311227 human ensembl 74_37 -1 known frame_shift_del c.883 p.H295fs 0.961 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD2 HGNC ENSG00000074219 137 0 0 98 9 8.41121 MYBPC2 0 genome.wustl.edu 37 19 50963425 50963425 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 50963425 50963425 A - DEL MYBPC2 ENST00000357701 human ensembl 74_37 +1 known frame_shift_del c.2920 p.T976fs 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC2 HGNC ENSG00000086967 18 0 0 19 4 17.3913 SHANK1 0 genome.wustl.edu 37 19 51165516 51165516 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 51165516 51165516 C - DEL SHANK1 ENST00000391814 human ensembl 74_37 -1 known frame_shift_del c.6216 p.L2073fs 0.101 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 16 0 0 14 5 26.3158 ZNF701 0 genome.wustl.edu 37 19 53086002 53086002 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 53086002 53086002 A - DEL ZNF701 ENST00000301093 human ensembl 74_37 +1 known frame_shift_del c.888 p.K298fs 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF701 HGNC ENSG00000167562 102 0 0 59 19 24.359 MIR525 0 genome.wustl.edu 37 19 54200830 54200830 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 54200830 54200830 A - DEL MIR525 ENST00000384978 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors MIR525 HGNC ENSG00000207711 126 0 0 119 23 16.1972 ENSG00000267865 0 genome.wustl.edu 37 19 56220431 56220431 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 56220431 56220431 T - DEL ENSG00000267865 ENST00000596293 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2611O12.8 Clone_based_vega_gene ENSG00000267865 54 0 0 47 7 12.963 ZNF71 0 genome.wustl.edu 37 19 57132721 57132721 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 57132721 57132721 G - DEL ZNF71 ENST00000328070 human ensembl 74_37 +1 known frame_shift_del c.66 p.G24fs 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 52 0 0 20 10 33.3333 ZIM3 0 genome.wustl.edu 37 19 57646555 57646555 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 57646555 57646555 T - DEL ZIM3 ENST00000269834 human ensembl 74_37 -1 known frame_shift_del c.1150 p.I384fs 0.890 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 ZIM3 HGNC ENSG00000141946 149 0 0 120 12 9.09091 ZNF814 0 genome.wustl.edu 37 19 58385707 58385708 + Frame_Shift_Ins INS - - T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 58385707 58385708 - T INS ZNF814 ENST00000435989 human ensembl 74_37 -1 known frame_shift_ins c.1051_1050 p.H350fs 0.746:0.728 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 ZNF814 HGNC ENSG00000204514 41 0 0 28 7 20 MUC16 0 genome.wustl.edu 37 19 9049103 9049103 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 9049103 9049103 A - DEL MUC16 ENST00000397910 human ensembl 74_37 -1 known frame_shift_del c.32528 p.F10843fs 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 140 0 0 113 29 20.4225 MUC16 0 genome.wustl.edu 37 19 9065788 9065788 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 19 9065788 9065788 C - DEL MUC16 ENST00000397910 human ensembl 74_37 -1 known frame_shift_del c.21658 p.D7220fs 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 251 0 0 158 56 26.1682 ATP6V1C2 0 genome.wustl.edu 37 2 10863073 10863075 + In_Frame_Del DEL ATA ATA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 ATA ATA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 10863073 10863075 ATA - DEL ATP6V1C2 ENST00000272238 human ensembl 74_37 +1 known in_frame_del c.98_100 p.N34in_frame_del 0.757:0.845:0.997 pfam_ATPase_V1-cplx_csu pfam_ATPase_V1-cplx_csu - no_errors ATP6V1C2 HGNC ENSG00000143882 60 0 0 49 3 5.76923 TMEM87B 0 genome.wustl.edu 37 2 112839024 112839024 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 112839024 112839024 T - DEL TMEM87B ENST00000283206 human ensembl 74_37 +1 known frame_shift_del c.767 p.L258fs 1.000 pfam_TM_rcpt_euk pfam_TM_rcpt_euk - no_errors TMEM87B HGNC ENSG00000153214 115 0 0 109 6 5.21739 ROCK2 0 genome.wustl.edu 37 2 11389837 11389837 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 11389837 11389837 A - DEL ROCK2 ENST00000315872 human ensembl 74_37 -1 known frame_shift_del c.412 p.W138fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Rho-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK2 HGNC ENSG00000134318 186 0 0 135 38 21.9653 PTPN4 0 genome.wustl.edu 37 2 120677773 120677773 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 120677773 120677773 T - DEL PTPN4 ENST00000263708 human ensembl 74_37 +1 known frame_shift_del c.957 p.F321fs 1.000 pirsf_Tyr_Pase_non-rcpt_typ-3/4 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors PTPN4 HGNC ENSG00000088179 137 0 0 110 30 21.4286 EPB41L5 0 genome.wustl.edu 37 2 120918486 120918487 + Frame_Shift_Ins INS - - C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 120918486 120918487 - C INS EPB41L5 ENST00000263713 human ensembl 74_37 +1 known frame_shift_ins c.1823_1824 p.K610fs 0.011:0.009 NULL pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L5 HGNC ENSG00000115109 197 0 0 147 23 13.5294 MKI67IP 0 genome.wustl.edu 37 2 122485323 122485323 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 122485323 122485323 T - DEL MKI67IP ENST00000285814 human ensembl 74_37 -1 known frame_shift_del c.859 p.R287fs 1.000 NULL pfam_hNIFK_FHA_Ki67_binding,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MKI67IP HGNC ENSG00000155438 116 0 0 99 30 23.2558 IWS1 0 genome.wustl.edu 37 2 128252502 128252502 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 128252502 128252502 T - DEL IWS1 ENST00000295321 human ensembl 74_37 -1 known frame_shift_del c.1745 p.K582fs 1.000 NULL pfam_TFIIS_N,superfamily_TFIIS_N - no_errors IWS1 HGNC ENSG00000163166 105 0 0 68 12 15 ENSG00000231731 0 genome.wustl.edu 37 2 128263364 128263366 + RNA DEL AAA AAA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 128263364 128263366 AAA - DEL ENSG00000231731 ENST00000599001 human ensembl 74_37 +1 known rna NULL NULL 0.233:0.319:0.309 - - - no_errors AC010976.2 Clone_based_vega_gene ENSG00000231731 29 0 0 35 9 20.4545 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 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 128 1 0.775194 95 27 22.1311 RBM43 0 genome.wustl.edu 37 2 152112047 152112048 + Frame_Shift_Ins INS - - T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 152112047 152112048 - T INS RBM43 ENST00000331426 human ensembl 74_37 -1 known frame_shift_ins c.214_213 p.V71fs 1.000:0.948 pfscan_RRM_dom pfscan_RRM_dom - no_errors RBM43 HGNC ENSG00000184898 111 1 0.892857 77 19 19.7917 NEB 0 genome.wustl.edu 37 2 152567047 152567047 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 152567047 152567047 T - DEL NEB ENST00000397345 human ensembl 74_37 -1 known frame_shift_del c.828 p.K276fs 1.000 pfam_Nebulin_35r-motif,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 44 0 0 30 11 26.8293 PLA2R1 0 genome.wustl.edu 37 2 160806194 160806195 + Frame_Shift_Ins INS - - A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 160806194 160806195 - A INS PLA2R1 ENST00000283243 human ensembl 74_37 -1 known frame_shift_ins c.3634_3633 p.A1211fs 0.999:0.999 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors PLA2R1 HGNC ENSG00000153246 78 0 0 52 11 17.4603 GRB14 0 genome.wustl.edu 37 2 165365288 165365288 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 165365288 165365288 T - DEL GRB14 ENST00000263915 human ensembl 74_37 -1 known frame_shift_del c.891 p.K297fs 0.015 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB14 HGNC ENSG00000115290 130 0 0 132 10 7.04225 COBLL1 0 genome.wustl.edu 37 2 165551296 165551296 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 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 52 0 0 17 12 41.3793 LRP2 0 genome.wustl.edu 37 2 169997025 169997025 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 169997025 169997025 G - DEL LRP2 ENST00000263816 human ensembl 74_37 -1 known frame_shift_del c.13139 p.P4380fs 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_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 75 0 0 42 8 16 DYNC1I2 0 genome.wustl.edu 37 2 172549339 172549339 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 172549339 172549339 A - DEL DYNC1I2 ENST00000397119 human ensembl 74_37 +1 known frame_shift_del c.161 p.R57fs 1.000 NULL pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 56 0 0 43 8 15.6863 SMC6 0 genome.wustl.edu 37 2 17898126 17898126 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 17898126 17898126 T - DEL SMC6 ENST00000381272 human ensembl 74_37 -1 known frame_shift_del c.1306 p.I436fs 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors SMC6 HGNC ENSG00000163029 53 0 0 52 11 17.4603 FKBP7 0 genome.wustl.edu 37 2 179330469 179330471 + RNA DEL AAA AAA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 179330469 179330471 AAA - DEL FKBP7 ENST00000464248 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors FKBP7 HGNC ENSG00000079150 25 0 0 28 8 22.2222 ENSG00000271011 0 genome.wustl.edu 37 2 179442293 179442293 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 179442293 179442293 A - DEL ENSG00000271011 ENST00000604215 human ensembl 74_37 +1 known rna NULL NULL 0.038 - - - no_errors RP11-171I2.5 Clone_based_vega_gene ENSG00000271011 31 0 0 21 9 30 TTN 0 genome.wustl.edu 37 2 179450022 179450022 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 179450022 179450022 T - DEL TTN ENST00000342992 human ensembl 74_37 -1 known frame_shift_del c.56745 p.K18915fs 0.997 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 180 0 0 163 35 17.6768 CCDC141 0 genome.wustl.edu 37 2 179720245 179720245 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 179720245 179720245 T - DEL CCDC141 ENST00000420890 human ensembl 74_37 -1 known frame_shift_del c.2889 p.V964fs 0.095 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CCDC141 HGNC ENSG00000163492 59 0 0 51 9 15 PMS1 0 genome.wustl.edu 37 2 190670540 190670540 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 190670540 190670540 A - DEL PMS1 ENST00000409985 human ensembl 74_37 +1 novel frame_shift_del c.478 p.K163fs 0.001 NULL pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd - no_errors PMS1 HGNC ENSG00000064933 24 0 0 9 9 50 PMS1 0 genome.wustl.edu 37 2 190682810 190682810 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 190682810 190682810 A - DEL PMS1 ENST00000441310 human ensembl 74_37 +1 known frame_shift_del c.486 p.K164fs 0.992 superfamily_HATPase_ATP-bd,tigrfam_DNA_mismatch_repair_N pfam_DNA_mismatch_repair_C,pfam_HMG_box_dom,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom,tigrfam_DNA_mismatch_repair_N - no_errors PMS1 HGNC ENSG00000064933 27 0 0 41 5 10.8696 DNAH7 0 genome.wustl.edu 37 2 196788374 196788374 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 196788374 196788374 T - DEL DNAH7 ENST00000312428 human ensembl 74_37 -1 known frame_shift_del c.3770 p.N1257fs 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 95 0 0 99 8 7.47664 CCDC150 0 genome.wustl.edu 37 2 197584401 197584401 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 197584401 197584401 T - DEL CCDC150 ENST00000461825 human ensembl 74_37 +1 putative rna NULL NULL 0.003 - - - no_errors CCDC150 HGNC ENSG00000144395 48 0 0 28 12 30 CCDC150 0 genome.wustl.edu 37 2 197584490 197584491 + RNA DEL AA AA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 197584490 197584491 AA - DEL CCDC150 ENST00000461825 human ensembl 74_37 +1 putative rna NULL NULL 0.000:0.000 - - - no_errors CCDC150 HGNC ENSG00000144395 8 0 0 7 7 50 ENSG00000257045 0 genome.wustl.edu 37 2 200193649 200193649 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 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 17 8 32 SUMO1 0 genome.wustl.edu 37 2 203096349 203096349 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 203096349 203096349 A - DEL SUMO1 ENST00000409627 human ensembl 74_37 -1 known frame_shift_del c.119 p.L40fs 0.011 NULL NULL - no_errors SUMO1 HGNC ENSG00000116030 19 0 0 12 6 33.3333 NOP58 0 genome.wustl.edu 37 2 203168133 203168133 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 203168133 203168133 A - DEL NOP58 ENST00000264279 human ensembl 74_37 +1 known frame_shift_del c.1564 p.K524fs 1.000 NULL pfam_Nop_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC - no_errors NOP58 HGNC ENSG00000055044 49 0 0 50 16 24.2424 ZDBF2 0 genome.wustl.edu 37 2 207174428 207174428 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 207174428 207174428 A - DEL ZDBF2 ENST00000374423 human ensembl 74_37 +1 known frame_shift_del c.5176 p.K1728fs 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 77 0 0 71 21 22.8261 ZDBF2 0 genome.wustl.edu 37 2 207174487 207174487 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 207174487 207174487 T - DEL ZDBF2 ENST00000374423 human ensembl 74_37 +1 known frame_shift_del c.5235 p.F1746fs 0.004 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 109 0 0 89 6 6.31579 MDH1B 0 genome.wustl.edu 37 2 207605795 207605795 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 207605795 207605795 T - DEL MDH1B ENST00000374412 human ensembl 74_37 -1 known frame_shift_del c.1442 p.N481fs 0.066 NULL pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C - no_errors MDH1B HGNC ENSG00000138400 74 0 0 57 14 19.7183 KLF7 0 genome.wustl.edu 37 2 207989028 207989028 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 207989028 207989028 G - DEL KLF7 ENST00000309446 human ensembl 74_37 -1 known frame_shift_del c.203 p.P68fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF7 HGNC ENSG00000118263 46 0 0 29 9 23.6842 CCNYL1 0 genome.wustl.edu 37 2 208605430 208605433 + Frame_Shift_Del DEL AGTA AGTA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AGTA AGTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 208605430 208605433 AGTA - DEL CCNYL1 ENST00000295414 human ensembl 74_37 +1 known frame_shift_del c.519 p.R174fs 1.000 pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cyclin_Y pfam_Cyclin_N,pfam_Cyclin_PHO80-like,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_Y - no_errors CCNYL1 HGNC ENSG00000163249 62 0 0 65 4 5.7971 XRCC5 0 genome.wustl.edu 37 2 217024813 217024813 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 217024813 217024813 A - DEL XRCC5 ENST00000392132 human ensembl 74_37 +1 known frame_shift_del c.1693 p.K566fs 1.000 pfam_Ku_C,superfamily_Ku_PK_bind pfam_Ku_N,pfam_Ku_PK_bind,pfam_Ku70/Ku80_beta-barrel_dom,pfam_Ku_C,superfamily_SPOC_like_C_dom,superfamily_Ku_PK_bind,smart_VWF_A,smart_Ku70/Ku80_beta-barrel_dom - no_errors XRCC5 HGNC ENSG00000079246 154 0 0 135 10 6.89655 CCDC108 0 genome.wustl.edu 37 2 219892999 219892999 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 219892999 219892999 G - DEL CCDC108 ENST00000341552 human ensembl 74_37 -1 known frame_shift_del c.1775 p.P592fs 0.993 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 36 0 0 38 10 20.8333 INHA 0 genome.wustl.edu 37 2 220439700 220439701 + Frame_Shift_Ins INS - - CT TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 220439700 220439701 - CT INS INHA ENST00000243786 human ensembl 74_37 +1 known frame_shift_ins c.553_554 p.L189fs 0.345:0.408 pirsf_Inhibin_asu_subgr,prints_Inhibin_asu pfam_TGF-b_C,smart_TGF-b_C,pirsf_Inhibin_asu_subgr,prints_Inhibin_asu - no_errors INHA HGNC ENSG00000123999 86 0 0 58 14 19.4444 PAX3 0 genome.wustl.edu 37 2 223086020 223086020 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 223086020 223086020 C - DEL PAX3 ENST00000392069 human ensembl 74_37 -1 known frame_shift_del c.879 p.F294fs 0.803 NULL pfam_Paired_dom,pfam_Pax7,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX3 HGNC ENSG00000135903 192 0 0 151 22 12.7168 HTR2B 0 genome.wustl.edu 37 2 231973745 231973745 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 231973745 231973745 T - DEL HTR2B ENST00000258400 human ensembl 74_37 -1 known frame_shift_del c.932 p.K311fs 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2B_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2B HGNC ENSG00000135914 182 0 0 158 46 22.549 UGT1A6 0 genome.wustl.edu 37 2 234602262 234602262 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 234602262 234602262 T - DEL UGT1A6 ENST00000305139 human ensembl 74_37 +1 known frame_shift_del c.612 p.S206fs 0.002 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A6 HGNC ENSG00000167165 194 0 0 147 48 24.6154 UGT1A4 0 genome.wustl.edu 37 2 234627977 234627977 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 234627977 234627977 T - DEL UGT1A4 ENST00000373409 human ensembl 74_37 +1 known frame_shift_del c.511 p.W173fs 0.388 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A4 HGNC ENSG00000244474 201 0 0 185 31 14.3519 NDUFA10 0 genome.wustl.edu 37 2 240946781 240946781 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 240946781 240946781 T - DEL NDUFA10 ENST00000252711 human ensembl 74_37 -1 known frame_shift_del c.756 p.K252fs 0.535 pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase,pirsf_NADH_UbQ_OxRdtase_42KD_su pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase,pirsf_NADH_UbQ_OxRdtase_42KD_su - no_errors NDUFA10 HGNC ENSG00000130414 47 0 0 34 7 17.0732 BIRC6 0 genome.wustl.edu 37 2 32836528 32836529 + Frame_Shift_Ins INS - - T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 32836528 32836529 - T INS BIRC6 ENST00000421745 human ensembl 74_37 +1 known frame_shift_ins c.14273_14274 p.Y4760fs 1.000:1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 85 0 0 56 17 23.2877 CEBPZ 0 genome.wustl.edu 37 2 37443454 37443461 + Frame_Shift_Del DEL CATACCTT CATACCTT - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 CATACCTT CATACCTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 37443454 37443461 CATACCTT - DEL CEBPZ ENST00000234170 human ensembl 74_37 -1 known frame_shift_del c.2316_2309 p.K770fs 0.001:0.000:0.956:1.000:1.000:1.000:1.000:1.000 superfamily_ARM-type_fold pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors CEBPZ HGNC ENSG00000115816 113 0 0 58 13 18.3099 CHAC2 0 genome.wustl.edu 37 2 53995031 53995031 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 53995031 53995031 T - DEL CHAC2 ENST00000295304 human ensembl 74_37 +1 known frame_shift_del c.8 p.F4fs 1.000 pfam_ChaC pfam_ChaC - no_errors CHAC2 HGNC ENSG00000143942 12 0 0 8 3 27.2727 PSME4 0 genome.wustl.edu 37 2 54093345 54093345 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 54093345 54093345 T - DEL PSME4 ENST00000404125 human ensembl 74_37 -1 known frame_shift_del c.5413 p.T1805fs 1.000 pfam_DUF3437,superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 144 0 0 125 31 19.8718 MTIF2 0 genome.wustl.edu 37 2 55489457 55489457 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 55489457 55489457 T - DEL MTIF2 ENST00000263629 human ensembl 74_37 -1 known frame_shift_del c.326 p.N109fs 0.998 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom - no_errors MTIF2 HGNC ENSG00000085760 130 0 0 82 25 23.3645 PUS10 0 genome.wustl.edu 37 2 61198669 61198669 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 61198669 61198669 T - DEL PUS10 ENST00000316752 human ensembl 74_37 -1 known frame_shift_del c.492 p.K164fs 1.000 NULL superfamily_PsdUridine_synth_cat_dom - no_errors PUS10 HGNC ENSG00000162927 276 0 0 207 53 20.3846 UGP2 0 genome.wustl.edu 37 2 64069278 64069279 + RNA DEL AA AA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 64069278 64069279 AA - DEL UGP2 ENST00000484056 human ensembl 74_37 +1 known rna NULL NULL 0.271:0.359 - - - no_errors UGP2 HGNC ENSG00000169764 75 0 0 63 22 25.8824 ETAA1 0 genome.wustl.edu 37 2 67629972 67629972 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 67629972 67629972 T - DEL ETAA1 ENST00000462772 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ETAA1 HGNC ENSG00000143971 119 0 0 74 24 24.4898 ATP6V1B1 0 genome.wustl.edu 37 2 71191573 71191573 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 71191573 71191573 C - DEL ATP6V1B1 ENST00000234396 human ensembl 74_37 +1 known frame_shift_del c.1149 p.I386fs 0.999 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 87 0 0 50 9 15.2542 DUSP11 0 genome.wustl.edu 37 2 73993684 73993685 + Frame_Shift_Ins INS - - A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 73993684 73993685 - A INS DUSP11 ENST00000272444 human ensembl 74_37 -1 known frame_shift_ins c.796_795 p.E265fs 0.302:0.323 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase - no_errors DUSP11 HGNC ENSG00000144048 130 0 0 108 16 12.9032 DCTN1 0 genome.wustl.edu 37 2 74593377 74593377 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 74593377 74593377 G - DEL DCTN1 ENST00000361874 human ensembl 74_37 -1 known frame_shift_del c.2754 p.S919fs 0.997 superfamily_P-loop_NTPase pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,superfamily_P-loop_NTPase,pfscan_CAP-Gly_domain - no_errors DCTN1 HGNC ENSG00000204843 124 0 0 63 14 18.1818 RNF103 0 genome.wustl.edu 37 2 86831015 86831015 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 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 91 12 11.6505 ZNF514 0 genome.wustl.edu 37 2 95815035 95815035 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 95815035 95815035 T - DEL ZNF514 ENST00000295208 human ensembl 74_37 -1 known frame_shift_del c.1195 p.T399fs 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF514 HGNC ENSG00000144026 122 1 0.813008 106 25 19.084 FAHD2CP 0 genome.wustl.edu 37 2 96687157 96687157 + RNA DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 96687157 96687157 C - DEL FAHD2CP ENST00000443258 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors FAHD2CP HGNC ENSG00000231584 15 0 0 11 3 21.4286 TAF1B 0 genome.wustl.edu 37 2 9989571 9989572 + Frame_Shift_Del DEL AA AA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 9989571 9989572 AA - DEL TAF1B ENST00000263663 human ensembl 74_37 +1 known frame_shift_del c.187_188 p.N66fs 0.991:0.950 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 20 0 0 21 5 19.2308 EIF5B 0 genome.wustl.edu 37 2 99977650 99977650 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 99977650 99977650 A - DEL EIF5B ENST00000289371 human ensembl 74_37 +1 known frame_shift_del c.286 p.K98fs 0.998 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 139 0 0 108 27 20 EIF5B 0 genome.wustl.edu 37 2 99977965 99977965 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 2 99977965 99977965 A - DEL EIF5B ENST00000289371 human ensembl 74_37 +1 known frame_shift_del c.601 p.N203fs 1.000 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 102 0 0 90 9 9.09091 CD93 0 genome.wustl.edu 37 20 23065523 23065523 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 23065523 23065523 C - DEL CD93 ENST00000246006 human ensembl 74_37 -1 known frame_shift_del c.1307 p.G436fs 0.000 pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CD93 HGNC ENSG00000125810 57 0 0 54 5 8.47458 GINS1 0 genome.wustl.edu 37 20 25422397 25422397 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 25422397 25422397 A - DEL GINS1 ENST00000262460 human ensembl 74_37 +1 known frame_shift_del c.507 p.N172fs 0.232 NULL NULL - no_errors GINS1 HGNC ENSG00000101003 81 0 0 97 13 11.8182 ZNF337 0 genome.wustl.edu 37 20 25656373 25656374 + Frame_Shift_Ins INS - - A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 25656373 25656374 - A INS ZNF337 ENST00000252979 human ensembl 74_37 -1 known frame_shift_ins c.1551_1550 p.C518fs 0.087:0.007 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 ZNF337 HGNC ENSG00000130684 141 0 0 166 11 6.21469 DEFB118 0 genome.wustl.edu 37 20 29960672 29960672 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 29960672 29960672 A - DEL DEFB118 ENST00000253381 human ensembl 74_37 +1 known frame_shift_del c.71 p.K26fs 0.000 NULL NULL - no_errors DEFB118 HGNC ENSG00000131068 62 0 0 73 11 13.0952 HM13 0 genome.wustl.edu 37 20 30142485 30142486 + RNA DEL AA AA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 30142485 30142486 AA - DEL HM13 ENST00000474466 human ensembl 74_37 +1 known rna NULL NULL 0.172:0.159 - - - no_errors HM13 HGNC ENSG00000101294 17 0 0 21 17 44.7368 EPB41L1 0 genome.wustl.edu 37 20 34797730 34797730 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 34797730 34797730 G - DEL EPB41L1 ENST00000338074 human ensembl 74_37 +1 known frame_shift_del c.1989 p.A665fs 0.990 pirsf_Band_41_protein pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB_dom,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L1 HGNC ENSG00000088367 23 0 0 33 8 19.5122 DLGAP4 0 genome.wustl.edu 37 20 35071131 35071131 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 35071131 35071131 T - DEL DLGAP4 ENST00000339266 human ensembl 74_37 +1 known frame_shift_del c.1358 p.F454fs 0.998 NULL pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 549 0 0 645 36 5.28634 MROH8 0 genome.wustl.edu 37 20 35748936 35748937 + Frame_Shift_Del DEL TA TA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 35748936 35748937 TA - DEL MROH8 ENST00000400441 human ensembl 74_37 -1 known frame_shift_del c.2200_2199 p.H733fs 0.999:1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH8 HGNC ENSG00000101353 55 0 0 51 13 20.3125 RALGAPB 0 genome.wustl.edu 37 20 37146233 37146233 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 37146233 37146233 C - DEL RALGAPB ENST00000262879 human ensembl 74_37 +1 known frame_shift_del c.1136 p.P381fs 1.000 NULL superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPB HGNC ENSG00000170471 116 0 0 174 21 10.7692 LPIN3 0 genome.wustl.edu 37 20 39977798 39977799 + Frame_Shift_Ins INS - - C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 39977798 39977799 - C INS LPIN3 ENST00000373257 human ensembl 74_37 +1 known frame_shift_ins c.624_625 p.Q210fs 0.488:0.000 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN3 HGNC ENSG00000132793 116 0 0 93 7 7 EMILIN3 0 genome.wustl.edu 37 20 39992288 39992288 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 39992288 39992288 G - DEL EMILIN3 ENST00000332312 human ensembl 74_37 -1 known frame_shift_del c.504 p.S169fs 0.800 NULL pfam_EMI_domain,pfscan_EMI_domain - no_errors EMILIN3 HGNC ENSG00000183798 28 0 0 26 6 18.75 PTPRT 0 genome.wustl.edu 37 20 40739003 40739003 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 40739003 40739003 G - DEL PTPRT ENST00000373198 human ensembl 74_37 -1 known frame_shift_del c.3281 p.P1094fs 0.991 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 41 0 0 35 5 12.5 CTSA 0 genome.wustl.edu 37 20 44523668 44523668 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 44523668 44523668 C - DEL CTSA ENST00000372484 human ensembl 74_37 +1 known frame_shift_del c.1038 p.C349fs 1.000 pfam_Peptidase_S10 pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors CTSA HGNC ENSG00000064601 37 0 0 29 3 9.375 ZNF334 0 genome.wustl.edu 37 20 45130769 45130769 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 45130769 45130769 T - DEL ZNF334 ENST00000347606 human ensembl 74_37 -1 known frame_shift_del c.1209 p.K403fs 0.999 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF334 HGNC ENSG00000198185 174 0 0 209 31 12.9167 DDX27 0 genome.wustl.edu 37 20 47858504 47858504 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 47858504 47858504 A - DEL DDX27 ENST00000371764 human ensembl 74_37 +1 known frame_shift_del c.2065 p.K691fs 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX27 HGNC ENSG00000124228 121 0 0 137 43 23.8889 DDX27 0 genome.wustl.edu 37 20 47860271 47860271 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 47860271 47860271 T - DEL DDX27 ENST00000471144 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors DDX27 HGNC ENSG00000124228 56 0 0 68 8 10.5263 DDX27 0 genome.wustl.edu 37 20 47860465 47860465 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 47860465 47860465 A - DEL DDX27 ENST00000471144 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors DDX27 HGNC ENSG00000124228 22 0 0 15 5 25 ADNP 0 genome.wustl.edu 37 20 49520470 49520470 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 49520470 49520470 T - DEL ADNP ENST00000349014 human ensembl 74_37 -1 known frame_shift_del c.64 p.I22fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 56 0 0 55 9 14.0625 ATP9A 0 genome.wustl.edu 37 20 50312633 50312634 + Frame_Shift_Ins INS - - T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 50312633 50312634 - T INS ATP9A ENST00000338821 human ensembl 74_37 -1 known frame_shift_ins c.546_545 p.N182fs 0.995:1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9A HGNC ENSG00000054793 55 0 0 66 8 10.8108 C20orf85 0 genome.wustl.edu 37 20 56735727 56735727 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 56735727 56735727 C - DEL C20orf85 ENST00000371168 human ensembl 74_37 +1 known frame_shift_del c.263 p.P90fs 0.687 NULL NULL - no_errors C20orf85 HGNC ENSG00000124237 44 0 0 55 8 12.6984 OSBPL2 0 genome.wustl.edu 37 20 60854258 60854258 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 20 60854258 60854258 C - DEL OSBPL2 ENST00000313733 human ensembl 74_37 +1 known frame_shift_del c.537 p.I182fs 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd - no_errors OSBPL2 HGNC ENSG00000130703 99 0 0 98 17 14.7826 RWDD2B 0 genome.wustl.edu 37 21 30378685 30378685 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 30378685 30378685 A - DEL RWDD2B ENST00000286777 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RWDD2B HGNC ENSG00000156253 16 0 0 9 5 35.7143 FLJ45139 0 genome.wustl.edu 37 21 40250362 40250363 + RNA DEL AA AA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 40250362 40250363 AA - DEL FLJ45139 ENST00000380931 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.001 - - - no_errors AF064858.6 Clone_based_vega_gene ENSG00000205622 29 0 0 11 5 31.25 LCA5L 0 genome.wustl.edu 37 21 40795389 40795389 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 40795389 40795389 T - DEL LCA5L ENST00000288350 human ensembl 74_37 -1 known frame_shift_del c.350 p.K117fs 0.985 NULL NULL - no_errors LCA5L HGNC ENSG00000157578 144 0 0 94 8 7.84314 CBS 0 genome.wustl.edu 37 21 44492285 44492285 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 44492285 44492285 G - DEL CBS ENST00000398168 human ensembl 74_37 -1 known frame_shift_del c.19 p.Q7fs 0.000 NULL 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 19 0 0 3 2 40 KRTAP10-9 0 genome.wustl.edu 37 21 46047615 46047615 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 46047615 46047615 C - DEL KRTAP10-9 ENST00000397911 human ensembl 74_37 +1 known frame_shift_del c.527 p.C178fs 0.035 NULL NULL - no_errors KRTAP10-9 HGNC ENSG00000221837 369 0 0 206 56 21.374 MCM3AP-AS1 0 genome.wustl.edu 37 21 47662900 47662901 + RNA DEL AA AA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 21 47662900 47662901 AA - DEL MCM3AP-AS1 ENST00000421927 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors MCM3AP-AS1 HGNC ENSG00000215424 73 0 0 56 5 8.19672 PI4KA 0 genome.wustl.edu 37 22 21172812 21172812 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 21172812 21172812 G - DEL PI4KA ENST00000255882 human ensembl 74_37 -1 known frame_shift_del c.815 p.P272fs 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 30 0 0 30 7 18.9189 SMARCB1 0 genome.wustl.edu 37 22 24175857 24175859 + In_Frame_Del DEL AGA AGA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 24175857 24175859 AGA - DEL SMARCB1 ENST00000263121 human ensembl 74_37 +1 known in_frame_del c.1085_1087 p.K364in_frame_del 1.000:1.000:1.000 pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx - no_errors SMARCB1 HGNC ENSG00000099956 96 0 0 54 14 20.5882 SPECC1L 0 genome.wustl.edu 37 22 24718805 24718806 + Frame_Shift_Del DEL AG AG - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 24718805 24718806 AG - DEL SPECC1L ENST00000314328 human ensembl 74_37 +1 known frame_shift_del c.1857_1858 p.E620fs 0.275:1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_bHLH_dom,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1L HGNC ENSG00000100014 134 0 0 98 33 25.1908 TUG1 0 genome.wustl.edu 37 22 31367602 31367602 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 31367602 31367602 T - DEL TUG1 ENST00000519077 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors TUG1 HGNC ENSG00000253352 9 0 0 7 7 50 DDX17 0 genome.wustl.edu 37 22 38895454 38895455 + Frame_Shift_Ins INS - - C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 38895454 38895455 - C INS DDX17 ENST00000396821 human ensembl 74_37 -1 known frame_shift_ins c.489_488 p.D164fs 0.978:0.996 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX17 HGNC ENSG00000100201 126 0 0 117 23 16.4286 NAGA 0 genome.wustl.edu 37 22 42458950 42458950 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 42458950 42458950 G - DEL NAGA ENST00000396398 human ensembl 74_37 -1 known frame_shift_del c.838 p.L280fs 1.000 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 57 0 0 36 5 12.1951 ALG12 0 genome.wustl.edu 37 22 50303555 50303555 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 22 50303555 50303555 C - DEL ALG12 ENST00000330817 human ensembl 74_37 -1 known frame_shift_del c.651 p.I218fs 0.000 pfam_GPI_mannosylTrfase pfam_GPI_mannosylTrfase - no_errors ALG12 HGNC ENSG00000182858 65 0 0 57 10 14.9254 GCSAM 0 genome.wustl.edu 37 3 111845872 111845873 + Frame_Shift_Ins INS - - T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 111845872 111845873 - T INS GCSAM ENST00000308910 human ensembl 74_37 -1 known frame_shift_ins c.152_151 p.I51fs 0.000:0.001 NULL NULL - no_errors GCSAM HGNC ENSG00000174500 51 0 0 47 9 16.0714 KIAA1407 0 genome.wustl.edu 37 3 113765535 113765535 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 113765535 113765535 A - DEL KIAA1407 ENST00000295878 human ensembl 74_37 -1 known frame_shift_del c.174 p.F58fs 0.024 NULL NULL - no_errors KIAA1407 HGNC ENSG00000163617 54 0 0 36 11 23.4043 PARP14 0 genome.wustl.edu 37 3 122418640 122418640 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 122418640 122418640 A - DEL PARP14 ENST00000474629 human ensembl 74_37 +1 known frame_shift_del c.1239 p.N415fs 0.000 NULL pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 315 0 0 194 55 22.0884 PARP14 0 genome.wustl.edu 37 3 122433232 122433232 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 122433232 122433232 A - DEL PARP14 ENST00000474629 human ensembl 74_37 +1 known frame_shift_del c.3956 p.N1322fs 0.974 pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 66 0 0 60 11 15.493 PARP14 0 genome.wustl.edu 37 3 122437545 122437546 + Frame_Shift_Del DEL AG AG - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 122437545 122437546 AG - DEL PARP14 ENST00000474629 human ensembl 74_37 +1 known frame_shift_del c.4547_4548 p.R1517fs 0.981:0.707 NULL pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 358 0 0 287 16 5.28053 ADCY5 0 genome.wustl.edu 37 3 123046535 123046535 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 123046535 123046535 C - DEL ADCY5 ENST00000462833 human ensembl 74_37 -1 known frame_shift_del c.1877 p.G626fs 1.000 pfam_A/G_cyclase,superfamily_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 ADCY5 HGNC ENSG00000173175 33 0 0 36 9 20 TRH 0 genome.wustl.edu 37 3 129695643 129695643 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 129695643 129695643 G - DEL TRH ENST00000302649 human ensembl 74_37 +1 known frame_shift_del c.313 p.A107fs 0.490 pfam_TRH,pirsf_TRH pfam_TRH,pirsf_TRH - no_errors TRH HGNC ENSG00000170893 48 0 0 33 4 10.8108 ENSG00000273455 0 genome.wustl.edu 37 3 135806703 135806703 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 135806703 135806703 T - DEL ENSG00000273455 ENST00000608883 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-305O4.3 Clone_based_vega_gene ENSG00000273455 59 0 0 50 16 24.2424 SLC35G2 0 genome.wustl.edu 37 3 136573585 136573586 + Frame_Shift_Ins INS - - A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 136573585 136573586 - A INS SLC35G2 ENST00000393079 human ensembl 74_37 +1 known frame_shift_ins c.283_284 p.N97fs 1.000:1.000 NULL pfam_DMT - no_errors SLC35G2 HGNC ENSG00000168917 100 0 0 78 23 22.7723 CNTN6 0 genome.wustl.edu 37 3 1371501 1371501 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 1371501 1371501 A - DEL CNTN6 ENST00000350110 human ensembl 74_37 +1 known frame_shift_del c.1246 p.K418fs 0.992 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 132 0 0 88 19 17.757 PIK3CB 0 genome.wustl.edu 37 3 138433482 138433482 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 138433482 138433482 T - DEL PIK3CB ENST00000289153 human ensembl 74_37 -1 known frame_shift_del c.1130 p.N377fs 0.995 pfam_PI3K_C2_dom,superfamily_C2_dom,smart_PI3K_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CB HGNC ENSG00000051382 207 0 0 181 55 23.3051 XRN1 0 genome.wustl.edu 37 3 142142409 142142409 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 142142409 142142409 T - DEL XRN1 ENST00000264951 human ensembl 74_37 -1 known frame_shift_del c.703 p.T235fs 0.869 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC ENSG00000114127 52 0 0 40 7 14.8936 SLC6A6 0 genome.wustl.edu 37 3 14513785 14513785 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 14513785 14513785 T - DEL SLC6A6 ENST00000360861 human ensembl 74_37 +1 known frame_shift_del c.1169 p.F392fs 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_taurine - no_errors SLC6A6 HGNC ENSG00000131389 109 0 0 102 6 5.55556 DHX36 0 genome.wustl.edu 37 3 154010423 154010423 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 154010423 154010423 A - DEL DHX36 ENST00000496811 human ensembl 74_37 -1 known frame_shift_del c.1731 p.F577fs 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,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 171 0 0 154 9 5.52147 EAF1-AS1 0 genome.wustl.edu 37 3 15480599 15480599 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 15480599 15480599 T - DEL EAF1-AS1 ENST00000494875 human ensembl 74_37 -1 known rna NULL NULL 0.925 - - - no_errors EAF1-AS1 HGNC ENSG00000249786 51 0 0 23 11 32.3529 SLC33A1 0 genome.wustl.edu 37 3 155560396 155560396 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 155560396 155560396 A - DEL SLC33A1 ENST00000359479 human ensembl 74_37 -1 known frame_shift_del c.788 p.F263fs 1.000 superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1 superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1 - no_errors SLC33A1 HGNC ENSG00000169359 34 0 0 28 9 24.3243 SMC4 0 genome.wustl.edu 37 3 160143940 160143940 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 160143940 160143940 A - DEL SMC4 ENST00000344722 human ensembl 74_37 +1 known frame_shift_del c.2557 p.K855fs 0.998 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase,superfamily_Chemotax_Me-accpt_rcpt_lig-bd pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 417 1 0.239234 366 66 15.2778 SERPINI2 0 genome.wustl.edu 37 3 167189546 167189546 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 167189546 167189546 T - DEL SERPINI2 ENST00000264677 human ensembl 74_37 -1 known frame_shift_del c.77 p.N26fs 0.002 pfam_Serpin_dom,superfamily_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINI2 HGNC ENSG00000114204 237 0 0 186 48 20.5128 GPR160 0 genome.wustl.edu 37 3 169802468 169802469 + Frame_Shift_Ins INS - - A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 169802468 169802469 - A INS GPR160 ENST00000355897 human ensembl 74_37 +1 known frame_shift_ins c.708_709 p.I238fs 0.000:0.030 pfscan_GPCR_Rhodpsn_7TM pfscan_GPCR_Rhodpsn_7TM - no_errors GPR160 HGNC ENSG00000173890 78 0 0 58 13 18.3099 TNFSF10 0 genome.wustl.edu 37 3 172224303 172224303 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 172224303 172224303 A - DEL TNFSF10 ENST00000241261 human ensembl 74_37 -1 known frame_shift_del c.825 p.F275fs 0.424 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_10/11,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_10/11,pfscan_TNF_dom - no_errors TNFSF10 HGNC ENSG00000121858 89 0 0 67 10 12.987 MFN1 0 genome.wustl.edu 37 3 179069813 179069813 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 179069813 179069813 T - DEL MFN1 ENST00000263969 human ensembl 74_37 +1 known frame_shift_del c.238 p.F81fs 0.999 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN1 HGNC ENSG00000171109 240 0 0 162 33 16.9231 MRPL47 0 genome.wustl.edu 37 3 179320480 179320480 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 179320480 179320480 A - DEL MRPL47 ENST00000476781 human ensembl 74_37 -1 known frame_shift_del c.204 p.F68fs 1.000 pfam_Ribosomal_L47_mit pfam_Ribosomal_L47_mit - no_errors MRPL47 HGNC ENSG00000136522 111 0 0 111 8 6.72269 USP13 0 genome.wustl.edu 37 3 179408081 179408081 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 179408081 179408081 T - DEL USP13 ENST00000263966 human ensembl 74_37 +1 known frame_shift_del c.347 p.L118fs 1.000 pirsf_Ubiquitinyl_hydrolase pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP13 HGNC ENSG00000058056 98 0 0 72 18 20 FXR1 0 genome.wustl.edu 37 3 180652985 180652986 + Frame_Shift_Ins INS - - A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 180652985 180652986 - A INS FXR1 ENST00000357559 human ensembl 74_37 +1 known frame_shift_ins c.164_165 p.E58fs 1.000:0.999 superfamily_NA-bd_OB-fold pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,superfamily_NA-bd_OB-fold,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR1 HGNC ENSG00000114416 69 0 0 49 7 12.5 DVL3 0 genome.wustl.edu 37 3 183888381 183888381 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 183888381 183888381 C - DEL DVL3 ENST00000313143 human ensembl 74_37 +1 known frame_shift_del c.1989 p.M666fs 0.996 pfam_Dishevelled_C-dom pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam,prints_Dishevelled_3 - no_errors DVL3 HGNC ENSG00000161202 11 0 0 9 2 18.1818 FETUB 0 genome.wustl.edu 37 3 186362544 186362544 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 186362544 186362544 A - DEL FETUB ENST00000265029 human ensembl 74_37 +1 known frame_shift_del c.429 p.K146fs 0.854 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors FETUB HGNC ENSG00000090512 126 1 0.787402 82 25 23.3645 CCDC50 0 genome.wustl.edu 37 3 191093199 191093199 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 191093199 191093199 A - DEL CCDC50 ENST00000392456 human ensembl 74_37 +1 known frame_shift_del c.797 p.K267fs 0.009 NULL NULL - no_errors CCDC50 HGNC ENSG00000152492 73 0 0 53 5 8.62069 MB21D2 0 genome.wustl.edu 37 3 192516280 192516280 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 192516280 192516280 T - DEL MB21D2 ENST00000392452 human ensembl 74_37 -1 known frame_shift_del c.1371 p.K457fs 1.000 NULL pfam_Mab-21_dom - no_errors MB21D2 HGNC ENSG00000180611 116 0 0 86 19 18.0952 ACAP2 0 genome.wustl.edu 37 3 195013093 195013094 + Frame_Shift_Ins INS - - T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 195013093 195013094 - T INS ACAP2 ENST00000326793 human ensembl 74_37 -1 known frame_shift_ins c.1854_1853 p.N618fs 0.992:1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom 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 ACAP2 HGNC ENSG00000114331 151 0 0 132 7 5.03597 PPP1R2 0 genome.wustl.edu 37 3 195245976 195245976 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 195245976 195245976 T - DEL PPP1R2 ENST00000328432 human ensembl 74_37 -1 known frame_shift_del c.410 p.K137fs 1.000 pfam_PPI-2 pfam_PPI-2 - no_errors PPP1R2 HGNC ENSG00000184203 60 0 0 58 13 18.3099 SGOL1 0 genome.wustl.edu 37 3 20212755 20212755 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 20212755 20212755 A - DEL SGOL1 ENST00000460637 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors SGOL1 HGNC ENSG00000129810 34 0 0 15 5 25 TRNT1 0 genome.wustl.edu 37 3 3189779 3189779 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 3189779 3189779 A - DEL TRNT1 ENST00000251607 human ensembl 74_37 +1 known frame_shift_del c.1246 p.S418fs 1.000 NULL pfam_PolA_pol_head_dom - no_errors TRNT1 HGNC ENSG00000072756 94 0 0 55 18 24.6575 CLASP2 0 genome.wustl.edu 37 3 33602361 33602361 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 33602361 33602361 T - DEL CLASP2 ENST00000399362 human ensembl 74_37 -1 known frame_shift_del c.2890 p.M964fs 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC ENSG00000163539 160 0 0 140 20 12.5 PDCD6IP 0 genome.wustl.edu 37 3 33870419 33870419 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 33870419 33870419 A - DEL PDCD6IP ENST00000457054 human ensembl 74_37 +1 known frame_shift_del c.807 p.K270fs 0.991 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfscan_BRO1_dom - no_errors PDCD6IP HGNC ENSG00000170248 136 0 0 87 19 17.9245 LRRN1 0 genome.wustl.edu 37 3 3888320 3888320 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 3888320 3888320 A - DEL LRRN1 ENST00000319331 human ensembl 74_37 +1 known frame_shift_del c.1995 p.K667fs 0.663 NULL 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 83 0 0 59 7 10.6061 SEC22C 0 genome.wustl.edu 37 3 42610466 42610466 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 42610466 42610466 A - DEL SEC22C ENST00000264454 human ensembl 74_37 -1 known frame_shift_del c.73 p.Y25fs 0.995 superfamily_Longin-like_dom,pfscan_Longin_dom superfamily_Longin-like_dom,pfscan_Longin_dom - no_errors SEC22C HGNC ENSG00000093183 46 0 0 42 9 17.6471 FYCO1 0 genome.wustl.edu 37 3 45965219 45965221 + In_Frame_Del DEL CTC CTC - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 45965219 45965221 CTC - DEL FYCO1 ENST00000535325 human ensembl 74_37 -1 known in_frame_del c.4350_4348 p.E1450in_frame_del 1.000:1.000:1.000 superfamily_GOLD,pfscan_GOLD pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC ENSG00000163820 135 0 0 92 23 20 SETD2 0 genome.wustl.edu 37 3 47161907 47161907 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 47161907 47161907 T - DEL SETD2 ENST00000409792 human ensembl 74_37 -1 known frame_shift_del c.4219 p.R1407fs 1.000 NULL pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom - no_errors SETD2 HGNC ENSG00000181555 70 0 0 36 10 21.7391 DAG1 0 genome.wustl.edu 37 3 49547840 49547840 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 49547840 49547840 T - DEL DAG1 ENST00000479935 human ensembl 74_37 +1 known rna NULL NULL 0.793 - - - no_errors DAG1 HGNC ENSG00000173402 26 0 0 9 8 47.0588 DOCK3 0 genome.wustl.edu 37 3 51102018 51102018 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 51102018 51102018 G - DEL DOCK3 ENST00000266037 human ensembl 74_37 +1 known frame_shift_del c.455 p.G153fs 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 97 0 0 80 11 12.0879 CACNA2D3 0 genome.wustl.edu 37 3 54596940 54596940 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 54596940 54596940 T - DEL CACNA2D3 ENST00000288197 human ensembl 74_37 +1 known frame_shift_del c.658 p.F221fs 1.000 pfam_VWA_N pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 41 0 0 32 7 17.9487 CCDC66 0 genome.wustl.edu 37 3 56649217 56649218 + Frame_Shift_Del DEL CA CA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 56649217 56649218 CA - DEL CCDC66 ENST00000394672 human ensembl 74_37 +1 known frame_shift_del c.1628_1629 p.Q544fs 1.000:0.876 NULL NULL - no_errors CCDC66 HGNC ENSG00000180376 139 0 0 125 8 6.01504 ENSG00000244513 0 genome.wustl.edu 37 3 69105268 69105268 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 69105268 69105268 T - DEL ENSG00000244513 ENST00000595925 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2013N24.2 Clone_based_vega_gene ENSG00000244513 25 0 0 28 4 12.5 ROBO2 0 genome.wustl.edu 37 3 77684125 77684125 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 77684125 77684125 A - DEL ROBO2 ENST00000461745 human ensembl 74_37 +1 known frame_shift_del c.3865 p.K1290fs 0.976 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 103 0 0 93 13 12.2642 EPHA3 0 genome.wustl.edu 37 3 89468398 89468398 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 89468398 89468398 A - DEL EPHA3 ENST00000336596 human ensembl 74_37 +1 known frame_shift_del c.1932 p.E647fs 0.987 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 EPHA3 HGNC ENSG00000044524 134 0 0 87 5 5.43478 FILIP1L 0 genome.wustl.edu 37 3 99568272 99568273 + Frame_Shift_Ins INS - - T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 3 99568272 99568273 - T INS FILIP1L ENST00000354552 human ensembl 74_37 -1 known frame_shift_ins c.2248_2247 p.L749fs 1.000:1.000 superfamily_Prefoldin pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 186 0 0 175 10 5.40541 SLC2A9 0 genome.wustl.edu 37 4 10027510 10027510 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 10027510 10027510 A - DEL SLC2A9 ENST00000509214 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC2A9 HGNC ENSG00000109667 82 0 0 57 22 27.8481 ARSJ 0 genome.wustl.edu 37 4 114823494 114823494 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 114823494 114823494 T - DEL ARSJ ENST00000315366 human ensembl 74_37 -1 known frame_shift_del c.1736 p.K579fs 0.628 NULL pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSJ HGNC ENSG00000180801 42 0 0 48 8 14.2857 MAD2L1 0 genome.wustl.edu 37 4 120981328 120981328 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 120981328 120981328 G - DEL MAD2L1 ENST00000296509 human ensembl 74_37 -1 known frame_shift_del c.563 p.T188fs 0.998 pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd - no_errors MAD2L1 HGNC ENSG00000164109 112 0 0 78 20 20.4082 TNIP3 0 genome.wustl.edu 37 4 122075764 122075764 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 122075764 122075764 T - DEL TNIP3 ENST00000057513 human ensembl 74_37 -1 known frame_shift_del c.434 p.N145fs 0.574 NULL NULL - no_errors TNIP3 HGNC ENSG00000050730 59 0 0 39 12 23.5294 EXOSC9 0 genome.wustl.edu 37 4 122723894 122723894 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 122723894 122723894 T - DEL EXOSC9 ENST00000379663 human ensembl 74_37 +1 known frame_shift_del c.227 p.F78fs 1.000 pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC9 HGNC ENSG00000123737 110 0 0 82 16 16.3265 LARP1B 0 genome.wustl.edu 37 4 129127673 129127674 + Frame_Shift_Ins INS - - A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 129127673 129127674 - A INS LARP1B ENST00000326639 human ensembl 74_37 +1 known frame_shift_ins c.2400_2401 p.D802fs 1.000:1.000 smart_DM15 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1B HGNC ENSG00000138709 79 0 0 66 5 7.04225 CLGN 0 genome.wustl.edu 37 4 141313402 141313402 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 141313402 141313402 T - DEL CLGN ENST00000325617 human ensembl 74_37 -1 known frame_shift_del c.1622 p.K541fs 0.892 NULL pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex - no_errors CLGN HGNC ENSG00000153132 264 0 0 211 47 18.2171 ZNF330 0 genome.wustl.edu 37 4 142143532 142143532 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 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 66 0 0 37 8 17.7778 LRBA 0 genome.wustl.edu 37 4 151520174 151520174 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 151520174 151520174 T - DEL LRBA ENST00000357115 human ensembl 74_37 -1 known frame_shift_del c.6031 p.T2011fs 1.000 pfam_DUF1088 pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 122 0 0 101 8 7.33945 CC2D2A 0 genome.wustl.edu 37 4 15529197 15529197 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 15529197 15529197 T - DEL CC2D2A ENST00000413206 human ensembl 74_37 +1 known frame_shift_del c.1277 p.L427fs 1.000 NULL superfamily_C2_dom,smart_C2_dom - no_errors CC2D2A HGNC ENSG00000048342 59 0 0 36 6 14.2857 MAP9 0 genome.wustl.edu 37 4 156294552 156294552 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 156294552 156294552 T - DEL MAP9 ENST00000311277 human ensembl 74_37 -1 known frame_shift_del c.217 p.M73fs 0.000 NULL NULL - no_errors MAP9 HGNC ENSG00000164114 34 0 0 22 5 18.5185 TMA16 0 genome.wustl.edu 37 4 164428219 164428219 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 164428219 164428219 A - DEL TMA16 ENST00000358572 human ensembl 74_37 +1 known frame_shift_del c.38 p.V16fs 1.000 pfam_Tma16 pfam_Tma16 - no_errors TMA16 HGNC ENSG00000198498 34 0 0 27 5 15.625 AADAT 0 genome.wustl.edu 37 4 170994374 170994375 + Frame_Shift_Ins INS - - T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 170994374 170994375 - T INS AADAT ENST00000509167 human ensembl 74_37 -1 known frame_shift_ins c.579_578 p.N193fs 0.004:0.012 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors AADAT HGNC ENSG00000109576 129 0 0 125 9 6.71642 SEL1L3 0 genome.wustl.edu 37 4 25769175 25769176 + Frame_Shift_Del DEL AG AG - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 25769175 25769176 AG - DEL SEL1L3 ENST00000399878 human ensembl 74_37 -1 known frame_shift_del c.2817_2816 p.S939fs 1.000:1.000 NULL pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like - no_errors SEL1L3 HGNC ENSG00000091490 40 0 0 33 4 10.8108 GRK4 0 genome.wustl.edu 37 4 3015469 3015470 + Frame_Shift_Ins INS - - A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 3015469 3015470 - A INS GRK4 ENST00000398052 human ensembl 74_37 +1 known frame_shift_ins c.655_656 p.R222fs 1.000:1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK4 HGNC ENSG00000125388 241 0 0 213 19 8.18966 GRK4 0 genome.wustl.edu 37 4 3040280 3040282 + RNA DEL AAA AAA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 3040280 3040282 AAA - DEL GRK4 ENST00000504308 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.003:0.005 - - - no_errors GRK4 HGNC ENSG00000125388 59 0 0 46 15 24.5902 RGS12 0 genome.wustl.edu 37 4 3319346 3319346 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 3319346 3319346 C - DEL RGS12 ENST00000344733 human ensembl 74_37 +1 known frame_shift_del c.1449 p.P485fs 0.000 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 82 0 0 34 6 15 RPL9 0 genome.wustl.edu 37 4 39459818 39459818 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 39459818 39459818 T - DEL RPL9 ENST00000295955 human ensembl 74_37 -1 known frame_shift_del c.158 p.K53fs 1.000 pfam_Ribosomal_L6_a/b-dom,superfamily_Ribosomal_L6_a/b-dom,pirsf_Ribosomal_L6 pfam_Ribosomal_L6_a/b-dom,superfamily_Ribosomal_L6_a/b-dom,pirsf_Ribosomal_L6 - no_errors RPL9 HGNC ENSG00000163682 59 0 0 53 11 17.1875 LIAS 0 genome.wustl.edu 37 4 39462464 39462464 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 39462464 39462464 A - DEL LIAS ENST00000261434 human ensembl 74_37 +1 known frame_shift_del c.100 p.K36fs 0.641 pirsf_Lipoyl_synth pfam_rSAM,smart_Elp3/MiaB/NifB,pirsf_Lipoyl_synth,tigrfam_Lipoyl_synth - no_errors LIAS HGNC ENSG00000121897 213 0 0 223 13 5.50847 CNGA1 0 genome.wustl.edu 37 4 47939172 47939172 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 47939172 47939172 T - DEL CNGA1 ENST00000402813 human ensembl 74_37 -1 known frame_shift_del c.1546 p.T516fs 1.000 superfamily_cNMP-bd-like pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA1 HGNC ENSG00000198515 161 0 0 126 31 19.7452 FRYL 0 genome.wustl.edu 37 4 48604083 48604083 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 48604083 48604083 A - DEL FRYL ENST00000358350 human ensembl 74_37 -1 known frame_shift_del c.989 p.L330fs 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 79 0 0 48 20 29.4118 C4orf6 0 genome.wustl.edu 37 4 5527116 5527116 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 5527116 5527116 T - DEL C4orf6 ENST00000195455 human ensembl 74_37 +1 known frame_shift_del c.59 p.F23fs 0.077 NULL NULL - no_errors C4orf6 HGNC ENSG00000082929 21 0 0 12 20 62.5 UGT2A3 0 genome.wustl.edu 37 4 69817137 69817137 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 69817137 69817137 A - DEL UGT2A3 ENST00000251566 human ensembl 74_37 -1 known frame_shift_del c.342 p.F114fs 0.001 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2A3 HGNC ENSG00000135220 77 0 0 57 12 17.3913 ALB 0 genome.wustl.edu 37 4 74280753 74280753 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 74280753 74280753 T - DEL ALB ENST00000295897 human ensembl 74_37 +1 known frame_shift_del c.1060 p.L355fs 0.999 pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin/AFP,prints_ALB/AFP/VDB pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin/AFP,prints_ALB/AFP/VDB - no_errors ALB HGNC ENSG00000163631 87 0 0 72 19 20.8791 AFP 0 genome.wustl.edu 37 4 74313372 74313372 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 74313372 74313372 A - DEL AFP ENST00000395792 human ensembl 74_37 +1 known frame_shift_del c.1037 p.N348fs 0.959 pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin/AFP,prints_Alpha-fetoprotein pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin/AFP,prints_Alpha-fetoprotein,prints_ALB/AFP/VDB - no_errors AFP HGNC ENSG00000081051 69 0 0 39 12 23.5294 AFAP1-AS1 0 genome.wustl.edu 37 4 7776639 7776640 + RNA INS - - A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 7776639 7776640 - A INS AFAP1-AS1 ENST00000608442 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors AFAP1-AS1 HGNC ENSG00000272620 119 0 0 88 14 13.7255 PRKG2 0 genome.wustl.edu 37 4 82061809 82061810 + Frame_Shift_Ins INS - - T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 82061809 82061810 - T INS PRKG2 ENST00000264399 human ensembl 74_37 -1 known frame_shift_ins c.1422_1421 p.N474fs 1.000:1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_cGMP-dependent_protein_kinase,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC ENSG00000138669 69 0 0 35 7 16.6667 HNRNPD 0 genome.wustl.edu 37 4 83276431 83276431 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 83276431 83276431 A - DEL HNRNPD ENST00000508119 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HNRNPD HGNC ENSG00000138668 31 0 0 13 9 40.9091 CDS1 0 genome.wustl.edu 37 4 85556475 85556475 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 4 85556475 85556475 T - DEL CDS1 ENST00000295887 human ensembl 74_37 +1 known frame_shift_del c.781 p.F263fs 1.000 pfam_PC_trans,pirsf_PC_Trfase_euk pfam_PC_trans,pirsf_PC_Trfase_euk - no_errors CDS1 HGNC ENSG00000163624 128 0 0 80 30 27.2727 PAM 0 genome.wustl.edu 37 5 102296908 102296910 + In_Frame_Del DEL AGA AGA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 102296908 102296910 AGA - DEL PAM ENST00000304400 human ensembl 74_37 +1 known in_frame_del c.1137_1139 p.E383in_frame_del 0.991:1.000:1.000 NULL pfam_NHL_repeat,pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom,pfscan_NHL_repeat_subgr,prints_Pep_amidat_mOase - no_errors PAM HGNC ENSG00000145730 183 0 0 144 14 8.86076 PAM 0 genome.wustl.edu 37 5 102309949 102309949 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 102309949 102309949 A - DEL PAM ENST00000304400 human ensembl 74_37 +1 known frame_shift_del c.1292 p.K433fs 1.000 NULL pfam_NHL_repeat,pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom,pfscan_NHL_repeat_subgr,prints_Pep_amidat_mOase - no_errors PAM HGNC ENSG00000145730 122 0 0 60 24 28.5714 MAN2A1 0 genome.wustl.edu 37 5 109125195 109125195 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 109125195 109125195 A - DEL MAN2A1 ENST00000261483 human ensembl 74_37 +1 known frame_shift_del c.1910 p.N639fs 0.986 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 MAN2A1 HGNC ENSG00000112893 32 0 0 29 6 17.1429 SRP19 0 genome.wustl.edu 37 5 112203205 112203205 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 112203205 112203205 A - DEL SRP19 ENST00000505459 human ensembl 74_37 +1 known frame_shift_del c.406 p.K139fs 1.000 NULL pfam_Signal_recog_particle_SRP19,superfamily_Signal_recog_particle_SRP19 - no_errors SRP19 HGNC ENSG00000153037 71 0 0 58 13 18.3099 CCDC112 0 genome.wustl.edu 37 5 114611203 114611204 + Frame_Shift_Del DEL TC TC - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 114611203 114611204 TC - DEL CCDC112 ENST00000379611 human ensembl 74_37 -1 known frame_shift_del c.628_627 p.K210fs 0.993:0.998 NULL superfamily_Homeodomain-like - no_errors CCDC112 HGNC ENSG00000164221 169 0 0 122 37 23.2704 CEP120 0 genome.wustl.edu 37 5 122720714 122720714 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 122720714 122720714 A - DEL CEP120 ENST00000306467 human ensembl 74_37 -1 known frame_shift_del c.1694 p.L565fs 1.000 superfamily_C2_dom pfam_DUF3668,superfamily_C2_dom - no_errors CEP120 HGNC ENSG00000168944 83 0 0 97 14 12.6126 LMNB1 0 genome.wustl.edu 37 5 126140574 126140574 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 126140574 126140574 A - DEL LMNB1 ENST00000261366 human ensembl 74_37 +1 known frame_shift_del c.466 p.S158fs 1.000 pfam_IF pfam_IF,pfam_Lamin_tail_dom - no_errors LMNB1 HGNC ENSG00000113368 92 0 0 70 21 23.0769 CDKL3 0 genome.wustl.edu 37 5 133634349 133634349 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 133634349 133634349 A - DEL CDKL3 ENST00000265334 human ensembl 74_37 -1 known frame_shift_del c.1772 p.F591fs 0.700 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 CDKL3 HGNC ENSG00000006837 157 0 0 134 36 21.1765 KDM3B 0 genome.wustl.edu 37 5 137765964 137765964 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 137765964 137765964 C - DEL KDM3B ENST00000314358 human ensembl 74_37 +1 known frame_shift_del c.4920 p.P1642fs 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 63 0 0 44 10 18.5185 WDR55 0 genome.wustl.edu 37 5 140049102 140049102 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140049102 140049102 A - DEL WDR55 ENST00000358337 human ensembl 74_37 +1 known frame_shift_del c.1015 p.K341fs 1.000 pirsf_WD_repeat_p55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p55,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR55 HGNC ENSG00000120314 40 0 0 25 9 26.4706 PCDHA9 0 genome.wustl.edu 37 5 140230509 140230509 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 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 63 0 0 66 22 25 PCDHGA11 0 genome.wustl.edu 37 5 140802964 140802964 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140802964 140802964 C - DEL PCDHGA11 ENST00000398587 human ensembl 74_37 +1 known frame_shift_del c.2170 p.R724fs 0.082 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 79 0 0 56 22 28.2051 PCDHGC3 0 genome.wustl.edu 37 5 140857373 140857374 + Frame_Shift_Ins INS - - C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140857373 140857374 - C INS PCDHGC3 ENST00000308177 human ensembl 74_37 +1 known frame_shift_ins c.1690_1691 p.Q566fs 0.998:1.000 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC3 HGNC ENSG00000240184 59 0 0 61 6 8.95522 DIAPH1 0 genome.wustl.edu 37 5 140905627 140905628 + Frame_Shift_Del DEL CT CT - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 140905627 140905628 CT - DEL DIAPH1 ENST00000253811 human ensembl 74_37 -1 known frame_shift_del c.3555_3554 p.E1185fs 1.000:1.000 smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin - no_errors DIAPH1 HGNC ENSG00000131504 139 0 0 109 23 17.4242 NDFIP1 0 genome.wustl.edu 37 5 141511526 141511527 + RNA DEL AA AA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 141511526 141511527 AA - DEL NDFIP1 ENST00000509436 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors NDFIP1 HGNC ENSG00000131507 42 0 0 48 14 22.5806 KCTD16 0 genome.wustl.edu 37 5 143853530 143853531 + Frame_Shift_Ins INS - - A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 143853530 143853531 - A INS KCTD16 ENST00000507359 human ensembl 74_37 +1 known frame_shift_ins c.1140_1141 p.A383fs 1.000:1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD16 HGNC ENSG00000183775 126 0 0 96 14 12.7273 TRIO 0 genome.wustl.edu 37 5 14477004 14477004 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 14477004 14477004 T - DEL TRIO ENST00000344204 human ensembl 74_37 +1 known frame_shift_del c.6085 p.L2031fs 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain 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 37 0 0 35 7 16.6667 TCOF1 0 genome.wustl.edu 37 5 149777957 149777957 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 149777957 149777957 A - DEL TCOF1 ENST00000451292 human ensembl 74_37 +1 known frame_shift_del c.4494 p.K1500fs 0.722 NULL pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 104 0 0 80 22 21.5686 MYO10 0 genome.wustl.edu 37 5 16694606 16694606 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 16694606 16694606 C - DEL MYO10 ENST00000513610 human ensembl 74_37 -1 known frame_shift_del c.3674 p.G1225fs 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 96 0 0 72 9 11.1111 STK10 0 genome.wustl.edu 37 5 171517345 171517345 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 171517345 171517345 T - DEL STK10 ENST00000176763 human ensembl 74_37 -1 known frame_shift_del c.1576 p.T526fs 1.000 NULL pfam_PKK,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 STK10 HGNC ENSG00000072786 286 0 0 191 29 13.1818 CREBRF 0 genome.wustl.edu 37 5 172537583 172537584 + Frame_Shift_Ins INS - - A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 172537583 172537584 - A INS CREBRF ENST00000540014 human ensembl 74_37 +1 known frame_shift_ins c.1482_1483 p.L496fs 0.999:1.000 NULL NULL - no_errors CREBRF HGNC ENSG00000164463 125 0 0 121 10 7.63359 CPEB4 0 genome.wustl.edu 37 5 173317746 173317747 + Frame_Shift_Ins INS - - T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 173317746 173317747 - T INS CPEB4 ENST00000265085 human ensembl 74_37 +1 known frame_shift_ins c.1010_1011 p.A339fs 1.000:1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB4 HGNC ENSG00000113742 87 0 0 54 14 20.5882 NOP16 0 genome.wustl.edu 37 5 175812232 175812233 + Frame_Shift_Ins INS - - C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 175812232 175812233 - C INS NOP16 ENST00000389158 human ensembl 74_37 -1 known frame_shift_ins c.383_382 p.E128fs 1.000:1.000 pfam_Ribosome_biogenesis_Nop16 pfam_Ribosome_biogenesis_Nop16 - no_errors NOP16 HGNC ENSG00000048162 98 0 0 55 12 17.9104 NSD1 0 genome.wustl.edu 37 5 176696802 176696802 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 176696802 176696802 A - DEL NSD1 ENST00000439151 human ensembl 74_37 +1 known frame_shift_del c.5503 p.A1837fs 1.000 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 80 0 0 58 14 19.4444 CANX 0 genome.wustl.edu 37 5 179149920 179149920 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 179149920 179149920 T - DEL CANX ENST00000415618 human ensembl 74_37 +1 known frame_shift_del c.1403 p.F470fs 1.000 pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,prints_Calret/calnex pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex - no_errors CANX HGNC ENSG00000127022 101 0 0 93 10 9.70874 BTNL3 0 genome.wustl.edu 37 5 180432665 180432665 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 180432665 180432665 C - DEL BTNL3 ENST00000342868 human ensembl 74_37 +1 known frame_shift_del c.1194 p.S401fs 0.000 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 BTNL3 HGNC ENSG00000168903 78 0 0 52 18 25.7143 ZFR 0 genome.wustl.edu 37 5 32404161 32404161 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 32404161 32404161 T - DEL ZFR ENST00000265069 human ensembl 74_37 -1 known frame_shift_del c.1074 p.E359fs 1.000 smart_Znf_U1 pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR HGNC ENSG00000056097 157 0 0 144 25 14.7929 RAI14 0 genome.wustl.edu 37 5 34813722 34813723 + Frame_Shift_Ins INS - - A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 34813722 34813723 - A INS RAI14 ENST00000515799 human ensembl 74_37 +1 known frame_shift_ins c.818_819 p.R276fs 1.000:1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_t-SNARE,superfamily_UBA-like,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors RAI14 HGNC ENSG00000039560 114 1 0.869565 74 12 13.9535 NIPBL 0 genome.wustl.edu 37 5 36985083 36985083 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 36985083 36985083 A - DEL NIPBL ENST00000282516 human ensembl 74_37 +1 known frame_shift_del c.1801 p.K603fs 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 120 1 0.826446 92 24 20.6897 RICTOR 0 genome.wustl.edu 37 5 38954826 38954826 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 38954826 38954826 T - DEL RICTOR ENST00000503698 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RICTOR HGNC ENSG00000164327 23 0 0 24 5 17.2414 RICTOR 0 genome.wustl.edu 37 5 38959432 38959432 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 38959432 38959432 A - DEL RICTOR ENST00000503698 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors RICTOR HGNC ENSG00000164327 38 0 0 31 7 18.4211 TTC33 0 genome.wustl.edu 37 5 40716477 40716477 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 40716477 40716477 T - DEL TTC33 ENST00000337702 human ensembl 74_37 -1 known frame_shift_del c.559 p.S187fs 0.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC33 HGNC ENSG00000113638 121 0 0 109 30 21.5827 CARD6 0 genome.wustl.edu 37 5 40853094 40853094 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 40853094 40853094 T - DEL CARD6 ENST00000254691 human ensembl 74_37 +1 known frame_shift_del c.1660 p.F556fs 0.998 NULL pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pfscan_CARD - no_errors CARD6 HGNC ENSG00000132357 183 0 0 154 32 17.2043 MROH2B 0 genome.wustl.edu 37 5 41000851 41000852 + Frame_Shift_Ins INS - - A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 41000851 41000852 - A INS MROH2B ENST00000399564 human ensembl 74_37 -1 known frame_shift_ins c.4279_4278 p.A1426fs 1.000:1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 32 0 0 18 9 33.3333 SKIV2L2 0 genome.wustl.edu 37 5 54696236 54696236 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 54696236 54696236 A - DEL SKIV2L2 ENST00000230640 human ensembl 74_37 +1 known frame_shift_del c.2468 p.A826fs 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 SKIV2L2 HGNC ENSG00000039123 63 0 0 35 5 12.5 ZSWIM6 0 genome.wustl.edu 37 5 60822215 60822215 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 60822215 60822215 A - DEL ZSWIM6 ENST00000252744 human ensembl 74_37 +1 novel frame_shift_del c.1829 p.E613fs 1.000 NULL pfscan_Znf_SWIM,prints_Antifreeze_1 - no_errors ZSWIM6 HGNC ENSG00000130449 37 0 0 25 7 21.875 SREK1IP1 0 genome.wustl.edu 37 5 64020298 64020298 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 64020298 64020298 T - DEL SREK1IP1 ENST00000513458 human ensembl 74_37 -1 known frame_shift_del c.381 p.K129fs 0.967 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors SREK1IP1 HGNC ENSG00000153006 42 0 0 27 8 22.8571 BDP1 0 genome.wustl.edu 37 5 70766233 70766233 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 70766233 70766233 T - DEL BDP1 ENST00000358731 human ensembl 74_37 +1 known frame_shift_del c.931 p.L313fs 1.000 superfamily_Homeodomain-like,smart_SANT/Myb superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 65 0 0 58 14 19.4444 AP3B1 0 genome.wustl.edu 37 5 77334906 77334907 + Frame_Shift_Ins INS - - T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 77334906 77334907 - T INS AP3B1 ENST00000255194 human ensembl 74_37 -1 known frame_shift_ins c.2770_2769 p.L923fs 0.928:0.419 pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 66 0 0 63 9 12.5 AP3B1 0 genome.wustl.edu 37 5 77334907 77334907 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 5 77334907 77334907 T - DEL AP3B1 ENST00000255194 human ensembl 74_37 -1 known frame_shift_del c.2769 p.K923fs 0.419 pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 66 0 0 64 8 11.1111 MCHR2 0 genome.wustl.edu 37 6 100382358 100382358 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 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 134 0 0 115 27 19.0141 ASCC3 0 genome.wustl.edu 37 6 101091910 101091910 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 101091910 101091910 T - DEL ASCC3 ENST00000369162 human ensembl 74_37 -1 known frame_shift_del c.3729 p.K1243fs 0.999 pfam_Sec63-dom,superfamily_P-loop_NTPase,smart_Sec63-dom 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 55 0 0 52 14 21.2121 GRIK2 0 genome.wustl.edu 37 6 102503338 102503338 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 102503338 102503338 G - DEL GRIK2 ENST00000421544 human ensembl 74_37 +1 known frame_shift_del c.2445 p.V817fs 0.816 pfam_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 GRIK2 HGNC ENSG00000164418 129 0 0 132 18 12 HACE1 0 genome.wustl.edu 37 6 105192433 105192433 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 105192433 105192433 T - DEL HACE1 ENST00000262903 human ensembl 74_37 -1 known frame_shift_del c.2396 p.N799fs 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT,prints_Ankyrin_rpt - no_errors HACE1 HGNC ENSG00000085382 97 0 0 75 7 8.53659 TMEM14B 0 genome.wustl.edu 37 6 10756864 10756864 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 10756864 10756864 A - DEL TMEM14B ENST00000486421 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors TMEM14B HGNC ENSG00000137210 14 0 0 4 6 60 SESN1 0 genome.wustl.edu 37 6 109315692 109315692 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 109315692 109315692 T - DEL SESN1 ENST00000436639 human ensembl 74_37 -1 known frame_shift_del c.1093 p.R365fs 1.000 pfam_PA26 pfam_PA26 - no_errors SESN1 HGNC ENSG00000080546 150 0 0 103 22 17.6 ELOVL2 0 genome.wustl.edu 37 6 10995330 10995330 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 10995330 10995330 T - DEL ELOVL2 ENST00000354666 human ensembl 74_37 -1 known frame_shift_del c.415 p.T139fs 1.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL2 HGNC ENSG00000197977 157 0 0 125 14 10.0719 SLC16A10 0 genome.wustl.edu 37 6 111527826 111527826 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 111527826 111527826 A - DEL SLC16A10 ENST00000368851 human ensembl 74_37 +1 known frame_shift_del c.974 p.N327fs 0.011 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A10 HGNC ENSG00000112394 133 0 0 111 12 9.7561 KIAA1919 0 genome.wustl.edu 37 6 111587361 111587361 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 111587361 111587361 T - DEL KIAA1919 ENST00000368847 human ensembl 74_37 +1 known frame_shift_del c.596 p.C202fs 0.469 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors KIAA1919 HGNC ENSG00000173214 73 0 0 55 15 21.4286 TUBE1 0 genome.wustl.edu 37 6 112397206 112397206 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 112397206 112397206 T - DEL TUBE1 ENST00000368662 human ensembl 74_37 -1 known frame_shift_del c.746 p.K249fs 0.016 superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Epsilon_tubulin,prints_Tubulin - no_errors TUBE1 HGNC ENSG00000074935 175 0 0 174 33 15.942 KPNA5 0 genome.wustl.edu 37 6 117053387 117053389 + In_Frame_Del DEL AGA AGA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 117053387 117053389 AGA - DEL KPNA5 ENST00000356348 human ensembl 74_37 +1 known in_frame_del c.1521_1523 p.E509in_frame_del 0.993:1.000:1.000 superfamily_ARM-type_fold pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA5 HGNC ENSG00000196911 124 0 0 127 21 14.1892 ADTRP 0 genome.wustl.edu 37 6 11714640 11714641 + RNA DEL AA AA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 11714640 11714641 AA - DEL ADTRP ENST00000512139 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ADTRP HGNC ENSG00000111863 38 0 0 16 12 42.8571 STL 0 genome.wustl.edu 37 6 125231565 125231565 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 125231565 125231565 A - DEL STL ENST00000439075 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-510H23.1 Clone_based_vega_gene ENSG00000236548 13 0 0 14 5 26.3158 NCOA7 0 genome.wustl.edu 37 6 126249853 126249855 + In_Frame_Del DEL ATG ATG - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 ATG ATG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 126249853 126249855 ATG - DEL NCOA7 ENST00000368357 human ensembl 74_37 +1 known in_frame_del c.2765_2767 p.D923in_frame_del 1.000:1.000:1.000 pfam_TLDc,smart_TLDc pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc - no_errors NCOA7 HGNC ENSG00000111912 118 0 0 119 19 13.7681 THEMIS 0 genome.wustl.edu 37 6 128134568 128134568 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 128134568 128134568 T - DEL THEMIS ENST00000543064 human ensembl 74_37 -1 known frame_shift_del c.1218 p.V407fs 0.397 NULL NULL - no_errors THEMIS HGNC ENSG00000172673 96 0 0 78 17 17.8947 AKAP7 0 genome.wustl.edu 37 6 131481276 131481276 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 131481276 131481276 A - DEL AKAP7 ENST00000368123 human ensembl 74_37 +1 known frame_shift_del c.163 p.K57fs 0.449 pfam_Kinase-A_anchor_nucl_local_sig pfam_Kinase-A_anchor_nucl_local_sig,pfam_Kinase-A_anchor_RI-RII-bd_dom,superfamily_RNA_ligase/cNuc_Pdiesterase - no_errors AKAP7 HGNC ENSG00000118507 95 0 0 83 17 17 MED23 0 genome.wustl.edu 37 6 131917389 131917389 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 131917389 131917389 T - DEL MED23 ENST00000479213 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MED23 HGNC ENSG00000112282 16 0 0 11 5 31.25 MED23 0 genome.wustl.edu 37 6 131921295 131921295 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 131921295 131921295 A - DEL MED23 ENST00000368058 human ensembl 74_37 -1 known frame_shift_del c.2121 p.F707fs 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 65 0 0 54 8 12.9032 MED23 0 genome.wustl.edu 37 6 131948470 131948473 + RNA DEL AAAA AAAA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 131948470 131948473 AAAA - DEL MED23 ENST00000489888 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.004:0.006:0.011 - - - no_errors MED23 HGNC ENSG00000112282 64 0 0 54 17 23.9437 NOL7 0 genome.wustl.edu 37 6 13620991 13620992 + Frame_Shift_Ins INS - - A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 13620991 13620992 - A INS NOL7 ENST00000451315 human ensembl 74_37 +1 known frame_shift_ins c.706_707 p.Q239fs 0.542:0.993 NULL pfam_NUC129 - no_errors NOL7 HGNC ENSG00000225921 49 0 0 39 6 13.3333 SHPRH 0 genome.wustl.edu 37 6 146275964 146275964 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 146275964 146275964 T - DEL SHPRH ENST00000367503 human ensembl 74_37 -1 known frame_shift_del c.495 p.E166fs 0.391 NULL pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 107 0 0 116 21 15.3285 FBXO5 0 genome.wustl.edu 37 6 153293482 153293482 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 153293482 153293482 T - DEL FBXO5 ENST00000229758 human ensembl 74_37 -1 known frame_shift_del c.1017 p.D340fs 0.123 NULL pfam_F-box_dom,superfamily_F-box_dom - no_errors FBXO5 HGNC ENSG00000112029 93 0 0 77 19 19.7917 SYNJ2 0 genome.wustl.edu 37 6 158508009 158508009 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 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 33 0 0 13 9 40.9091 WTAP 0 genome.wustl.edu 37 6 160157368 160157368 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 160157368 160157368 T - DEL WTAP ENST00000494513 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors WTAP HGNC ENSG00000146457 123 0 0 96 21 17.9487 LPAL2 0 genome.wustl.edu 37 6 160887595 160887595 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 160887595 160887595 T - DEL LPAL2 ENST00000606083 human ensembl 74_37 -1 known rna NULL NULL 0.621 - - - no_errors LPAL2 HGNC ENSG00000213071 13 0 0 11 4 26.6667 PLG 0 genome.wustl.edu 37 6 161135891 161135892 + Frame_Shift_Ins INS - - A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 161135891 161135892 - A INS PLG ENST00000308192 human ensembl 74_37 +1 known frame_shift_ins c.613_614 p.C206fs 0.003:0.000 pirsf_Pept_S1A_plasmin,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors PLG HGNC ENSG00000122194 48 0 0 50 6 10.7143 QKI 0 genome.wustl.edu 37 6 163899920 163899920 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 163899920 163899920 A - DEL QKI ENST00000361752 human ensembl 74_37 +1 known frame_shift_del c.394 p.K134fs 1.000 smart_KH_dom pfam_KH_dom_type_1,smart_KH_dom - no_errors QKI HGNC ENSG00000112531 166 0 0 127 17 11.8056 FGFR1OP 0 genome.wustl.edu 37 6 167438458 167438458 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 167438458 167438458 T - DEL FGFR1OP ENST00000496181 human ensembl 74_37 +1 known rna NULL NULL 0.043 - - - no_errors FGFR1OP HGNC ENSG00000213066 20 0 0 20 10 33.3333 RBM24 0 genome.wustl.edu 37 6 17292448 17292449 + RNA DEL TA TA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 17292448 17292449 TA - DEL RBM24 ENST00000504055 human ensembl 74_37 +1 known rna NULL NULL 0.997:0.915 - - - no_errors RBM24 HGNC ENSG00000112183 36 0 0 23 8 25.8065 RBM24 0 genome.wustl.edu 37 6 17292449 17292450 + RNA DEL AA AA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 17292449 17292450 AA - DEL RBM24 ENST00000508508 human ensembl 74_37 +1 known rna NULL NULL 0.915:0.719 - - - no_errors RBM24 HGNC ENSG00000112183 39 0 0 26 5 16.129 FAM8A1 0 genome.wustl.edu 37 6 17608468 17608468 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 17608468 17608468 T - DEL FAM8A1 ENST00000259963 human ensembl 74_37 +1 known frame_shift_del c.1140 p.F382fs 1.000 pfam_RDD pfam_RDD - no_errors FAM8A1 HGNC ENSG00000137414 166 0 0 137 17 11.039 NUP153 0 genome.wustl.edu 37 6 17640225 17640225 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 17640225 17640225 A - DEL NUP153 ENST00000537253 human ensembl 74_37 -1 known frame_shift_del c.1884 p.F628fs 0.997 pfam_Nucleoporin_Nup153 pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 167 0 0 136 32 19.0476 RNF144B 0 genome.wustl.edu 37 6 18399838 18399839 + Frame_Shift_Ins INS - - C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 18399838 18399839 - C INS RNF144B ENST00000259939 human ensembl 74_37 +1 known frame_shift_ins c.73_74 p.L27fs 0.412:0.416 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC - no_errors RNF144B HGNC ENSG00000137393 80 0 0 70 8 10.2564 OR2J2 0 genome.wustl.edu 37 6 29141422 29141422 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 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 125 0 0 127 31 19.6203 MDC1 0 genome.wustl.edu 37 6 30679846 30679846 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 30679846 30679846 C - DEL MDC1 ENST00000376406 human ensembl 74_37 -1 known frame_shift_del c.1873 p.A625fs 0.001 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 64 0 0 47 14 22.9508 NFKBIL1 0 genome.wustl.edu 37 6 31525506 31525506 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 31525506 31525506 C - DEL NFKBIL1 ENST00000376148 human ensembl 74_37 +1 known frame_shift_del c.436 p.W148fs 0.998 NULL superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors NFKBIL1 HGNC ENSG00000204498 58 0 0 41 11 21.1538 LSM2 0 genome.wustl.edu 37 6 31765402 31765402 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 31765402 31765402 A - DEL LSM2 ENST00000470083 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LSM2 HGNC ENSG00000204392 23 0 0 11 9 45 SLC44A4 0 genome.wustl.edu 37 6 31846749 31846750 + Frame_Shift_Ins INS - - C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 31846749 31846750 - C INS SLC44A4 ENST00000229729 human ensembl 74_37 -1 known frame_shift_ins c.9_8 p.Q5fs 0.014:0.192 NULL pfam_Choline_transptr-like - no_errors SLC44A4 HGNC ENSG00000204385 84 0 0 72 9 11.1111 EHMT2 0 genome.wustl.edu 37 6 31852462 31852462 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 31852462 31852462 G - DEL EHMT2 ENST00000395728 human ensembl 74_37 -1 known frame_shift_del c.2734 p.L912fs 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 28 0 0 20 2 9.09091 RGL2 0 genome.wustl.edu 37 6 33263356 33263356 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 33263356 33263356 C - DEL RGL2 ENST00000497454 human ensembl 74_37 -1 known frame_shift_del c.949 p.E317fs 0.853 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL2 HGNC ENSG00000237441 31 0 0 36 5 12.1951 RGL2 0 genome.wustl.edu 37 6 33263965 33263965 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 33263965 33263965 C - DEL RGL2 ENST00000497454 human ensembl 74_37 -1 known frame_shift_del c.608 p.G203fs 1.000 superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL2 HGNC ENSG00000237441 136 0 0 106 24 18.4615 RPL10A 0 genome.wustl.edu 37 6 35437973 35437973 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 35437973 35437973 T - DEL RPL10A ENST00000322203 human ensembl 74_37 +1 known frame_shift_del c.328 p.L111fs 1.000 pfam_Ribosomal_L1/biogenesis,superfamily_Ribosomal_L1-like,pirsf_Ribosomal_L1 pfam_Ribosomal_L1/biogenesis,superfamily_Ribosomal_L1-like,pirsf_Ribosomal_L1 - no_errors RPL10A HGNC ENSG00000198755 55 0 0 61 7 10.2941 BRPF3 0 genome.wustl.edu 37 6 36181729 36181729 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 36181729 36181729 C - DEL BRPF3 ENST00000357641 human ensembl 74_37 +1 known frame_shift_del c.2555 p.P854fs 0.990 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF3 HGNC ENSG00000096070 110 0 0 95 12 11.215 C6orf89 0 genome.wustl.edu 37 6 36867370 36867371 + Frame_Shift_Ins INS - - C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 36867370 36867371 - C INS C6orf89 ENST00000355190 human ensembl 74_37 +1 known frame_shift_ins c.171_172 p.Q60fs 0.997:0.991 NULL NULL - no_errors C6orf89 HGNC ENSG00000198663 101 0 0 74 4 5.12821 DNAH8 0 genome.wustl.edu 37 6 38816440 38816440 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 38816440 38816440 A - DEL DNAH8 ENST00000359357 human ensembl 74_37 +1 known frame_shift_del c.4411 p.N1473fs 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 67 0 0 57 19 25 DLK2 0 genome.wustl.edu 37 6 43418413 43418413 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 43418413 43418413 G - DEL DLK2 ENST00000357338 human ensembl 74_37 -1 known frame_shift_del c.1016 p.P339fs 0.819 NULL pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DLK2 HGNC ENSG00000171462 25 0 0 28 5 15.1515 RUNX2 0 genome.wustl.edu 37 6 45296446 45296446 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 45296446 45296446 A - DEL RUNX2 ENST00000352853 human ensembl 74_37 +1 known frame_shift_del c.187 p.G66fs 0.983 NULL pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 106 0 0 66 43 39.4495 SLC25A27 0 genome.wustl.edu 37 6 46630156 46630156 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 46630156 46630156 T - DEL SLC25A27 ENST00000371347 human ensembl 74_37 +1 known frame_shift_del c.427 p.L144fs 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A27 HGNC ENSG00000153291 72 0 0 77 9 10.4651 DST 0 genome.wustl.edu 37 6 56382365 56382365 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 56382365 56382365 T - DEL DST ENST00000370754 human ensembl 74_37 -1 known frame_shift_del c.18090 p.K6030fs 1.000 pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 47 0 0 42 13 23.6364 ZNF451 0 genome.wustl.edu 37 6 57012276 57012277 + Frame_Shift_Ins INS - - A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 57012276 57012277 - A INS ZNF451 ENST00000370706 human ensembl 74_37 +1 known frame_shift_ins c.1393_1394 p.S467fs 0.000:0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF451 HGNC ENSG00000112200 133 0 0 88 7 7.36842 PHF3 0 genome.wustl.edu 37 6 64394427 64394428 + Frame_Shift_Ins INS - - A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 64394427 64394428 - A INS PHF3 ENST00000262043 human ensembl 74_37 +1 known frame_shift_ins c.804_805 p.N269fs 0.987:0.986 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 94 0 0 87 18 17.1429 BAI3 0 genome.wustl.edu 37 6 69348715 69348715 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 69348715 69348715 A - DEL BAI3 ENST00000370598 human ensembl 74_37 +1 known frame_shift_del c.148 p.N51fs 1.000 pfscan_CUB_dom 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 101 0 0 108 12 10 SMAP1 0 genome.wustl.edu 37 6 71508370 71508370 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 71508370 71508370 A - DEL SMAP1 ENST00000370455 human ensembl 74_37 +1 known frame_shift_del c.506 p.K172fs 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP1 HGNC ENSG00000112305 29 0 0 10 15 60 FILIP1 0 genome.wustl.edu 37 6 76124508 76124508 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 76124508 76124508 T - DEL FILIP1 ENST00000237172 human ensembl 74_37 -1 known frame_shift_del c.181 p.T61fs 0.997 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 267 0 0 277 57 17.0659 TTK 0 genome.wustl.edu 37 6 80751910 80751910 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 80751910 80751910 A - DEL TTK ENST00000369798 human ensembl 74_37 +1 known frame_shift_del c.2565 p.K857fs 0.011 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTK HGNC ENSG00000112742 70 0 0 54 7 11.4754 CYB5R4 0 genome.wustl.edu 37 6 84634230 84634231 + Frame_Shift_Ins INS - - A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 84634230 84634231 - A INS CYB5R4 ENST00000369681 human ensembl 74_37 +1 known frame_shift_ins c.733_734 p.E248fs 0.390:0.868 superfamily_HSP20-like_chaperone,pfscan_CS_dom pfam_Cyt_B5-like_heme/steroid-bd,pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,pfam_CS_dom,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_Riboflavin_synthase-like_b-brl,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_Cyt_B5-like_heme/steroid-bd,prints_NADH-Cyt_B5_reductase,prints_Cyt_B5-like_heme/steroid-bd - no_errors CYB5R4 HGNC ENSG00000065615 87 0 0 80 11 12.0879 ZNF292 0 genome.wustl.edu 37 6 87970954 87970954 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 87970954 87970954 A - DEL ZNF292 ENST00000369577 human ensembl 74_37 +1 known frame_shift_del c.7607 p.N2538fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 90 0 0 88 13 12.8713 C6orf165 0 genome.wustl.edu 37 6 88144700 88144700 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 88144700 88144700 A - DEL C6orf165 ENST00000369562 human ensembl 74_37 +1 known frame_shift_del c.1423 p.N477fs 1.000 pfam_DUF3508 pfam_DUF3508 - no_errors C6ORF165 Uniprot_gn ENSG00000272514 71 0 0 67 13 16.25 MAP3K7 0 genome.wustl.edu 37 6 91226170 91226170 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 6 91226170 91226170 A - DEL MAP3K7 ENST00000479630 human ensembl 74_37 -1 known rna NULL NULL 0.947 - - - no_errors MAP3K7 HGNC ENSG00000135341 63 0 0 37 22 37.2881 ENSG00000239969 0 genome.wustl.edu 37 7 102021057 102021057 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 102021057 102021057 A - DEL ENSG00000239969 ENST00000484974 human ensembl 74_37 +1 known rna NULL NULL 0.079 - - - no_errors RP11-163E9.2 Clone_based_vega_gene ENSG00000239969 87 0 0 52 27 34.1772 LRRC17 0 genome.wustl.edu 37 7 102584993 102584993 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 102584993 102584993 A - DEL LRRC17 ENST00000339431 human ensembl 74_37 +1 known frame_shift_del c.1265 p.K424fs 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC17 HGNC ENSG00000128606 143 1 0.694444 131 31 19.1358 KMT2E 0 genome.wustl.edu 37 7 104730565 104730565 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 104730565 104730565 A - DEL KMT2E ENST00000257745 human ensembl 74_37 +1 known frame_shift_del c.1468 p.G492fs 1.000 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 188 0 0 155 11 6.62651 ATXN7L1 0 genome.wustl.edu 37 7 105254801 105254802 + In_Frame_Ins INS - - GAG TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 105254801 105254802 - GAG INS ATXN7L1 ENST00000419735 human ensembl 74_37 -1 known in_frame_ins c.1980_1979 p.662in_frame_insS 0.000:0.098 NULL pfam_SCA7_dom - no_errors ATXN7L1 HGNC ENSG00000146776 14 0 0 22 3 12 LRRN3 0 genome.wustl.edu 37 7 110762900 110762901 + Frame_Shift_Ins INS - - A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 110762900 110762901 - A INS LRRN3 ENST00000308478 human ensembl 74_37 +1 known frame_shift_ins c.72_73 p.V26fs 1.000:1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN3 HGNC ENSG00000173114 157 0 0 123 27 18 IFRD1 0 genome.wustl.edu 37 7 112108038 112108039 + Frame_Shift_Ins INS - - T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 112108038 112108039 - T INS IFRD1 ENST00000005558 human ensembl 74_37 +1 known frame_shift_ins c.909_910 p.Y305fs 1.000:1.000 pfam_Interferon-rel_develop_reg_N,superfamily_ARM-type_fold pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold - no_errors IFRD1 HGNC ENSG00000006652 81 0 0 79 8 9.1954 TMEM168 0 genome.wustl.edu 37 7 112424191 112424191 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 112424191 112424191 A - DEL TMEM168 ENST00000312814 human ensembl 74_37 -1 known frame_shift_del c.690 p.F230fs 1.000 NULL superfamily_ConA-like_lec_gl_sf - no_errors TMEM168 HGNC ENSG00000146802 158 0 0 151 13 7.92683 CPED1 0 genome.wustl.edu 37 7 120764394 120764394 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 120764394 120764394 T - DEL CPED1 ENST00000310396 human ensembl 74_37 +1 known frame_shift_del c.928 p.F311fs 0.987 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 142 0 0 133 34 20.3593 ZNF800 0 genome.wustl.edu 37 7 127014068 127014068 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 127014068 127014068 T - DEL ZNF800 ENST00000265827 human ensembl 74_37 -1 known frame_shift_del c.1322 p.K441fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF800 HGNC ENSG00000048405 86 0 0 63 7 10 TMEM209 0 genome.wustl.edu 37 7 129813546 129813546 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 129813546 129813546 A - DEL TMEM209 ENST00000397622 human ensembl 74_37 -1 known frame_shift_del c.1483 p.C495fs 1.000 pfam_Cytochrome_B561-rel pfam_Cytochrome_B561-rel - no_errors TMEM209 HGNC ENSG00000146842 173 0 0 120 22 15.493 CHCHD3 0 genome.wustl.edu 37 7 132659915 132659915 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 132659915 132659915 T - DEL CHCHD3 ENST00000448878 human ensembl 74_37 -1 novel frame_shift_del c.383 p.N128fs 0.000 pfam_DUF737 pfam_DUF737 - no_errors CHCHD3 HGNC ENSG00000106554 80 0 0 60 18 23.0769 DGKI 0 genome.wustl.edu 37 7 137148245 137148245 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 137148245 137148245 G - DEL DGKI ENST00000288490 human ensembl 74_37 -1 known frame_shift_del c.2749 p.R917fs 0.293 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 146 0 0 81 19 19 JHDM1D 0 genome.wustl.edu 37 7 139833448 139833448 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 139833448 139833448 T - DEL JHDM1D ENST00000397560 human ensembl 74_37 -1 known frame_shift_del c.289 p.R97fs 1.000 superfamily_Znf_FYVE_PHD 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 JHDM1D HGNC ENSG00000006459 56 0 0 66 6 8.33333 EPHB6 0 genome.wustl.edu 37 7 142562398 142562398 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 142562398 142562398 C - DEL EPHB6 ENST00000392957 human ensembl 74_37 +1 known frame_shift_del c.840 p.R283fs 0.997 pirsf_Tyr_kinase_ephrin_rcpt 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 35 0 0 22 5 18.5185 KMT2C 0 genome.wustl.edu 37 7 151845524 151845524 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 151845524 151845524 A - DEL KMT2C ENST00000355193 human ensembl 74_37 -1 known frame_shift_del c.13659 p.F4553fs 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING 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 148 0 0 114 36 24 INSIG1 0 genome.wustl.edu 37 7 155099960 155099961 + Frame_Shift_Ins INS - - A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 155099960 155099961 - A INS INSIG1 ENST00000340368 human ensembl 74_37 +1 known frame_shift_ins c.814_815 p.P274fs 0.999:1.000 NULL pfam_INSIG_fam - no_errors INSIG1 HGNC ENSG00000186480 70 0 0 57 13 18.5714 RAPGEF5 0 genome.wustl.edu 37 7 22306597 22306598 + Frame_Shift_Ins INS - - G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 22306597 22306598 - G INS RAPGEF5 ENST00000344041 human ensembl 74_37 -1 known frame_shift_ins c.323_322 p.K108fs 1.000:1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF5 HGNC ENSG00000136237 102 0 0 98 6 5.76923 NUPL2 0 genome.wustl.edu 37 7 23224773 23224773 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 23224773 23224773 G - DEL NUPL2 ENST00000258742 human ensembl 74_37 +1 known frame_shift_del c.206 p.G71fs 1.000 NULL smart_Znf_CCCH - no_errors NUPL2 HGNC ENSG00000136243 109 0 0 99 9 8.33333 GLI3 0 genome.wustl.edu 37 7 42003913 42003913 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 42003913 42003913 T - DEL GLI3 ENST00000479210 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GLI3 HGNC ENSG00000106571 47 0 0 25 8 24.2424 LOC100506895 0 genome.wustl.edu 37 7 43548760 43548762 + RNA DEL CTC CTC - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 43548760 43548762 CTC - DEL LOC100506895 ENST00000436105 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors AC011738.4 Clone_based_vega_gene ENSG00000231638 72 0 0 48 12 20 C7orf57 0 genome.wustl.edu 37 7 48086205 48086205 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 48086205 48086205 A - DEL C7orf57 ENST00000348904 human ensembl 74_37 +1 known frame_shift_del c.499 p.K169fs 1.000 NULL NULL - no_errors C7orf57 HGNC ENSG00000164746 58 0 0 49 5 9.25926 DDC 0 genome.wustl.edu 37 7 50531075 50531075 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 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 101 0 0 64 12 15.7895 PMS2CL 0 genome.wustl.edu 37 7 6791127 6791127 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 6791127 6791127 A - DEL PMS2CL ENST00000486256 human ensembl 74_37 +1 known rna NULL NULL 0.016 - - - no_errors PMS2CL HGNC ENSG00000187953 42 0 0 45 9 16.6667 AUTS2 0 genome.wustl.edu 37 7 70229815 70229816 + Frame_Shift_Ins INS - - C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 70229815 70229816 - C INS AUTS2 ENST00000342771 human ensembl 74_37 +1 known frame_shift_ins c.1292_1293 p.L433fs 1.000:1.000 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 13 0 0 8 6 42.8571 DTX2 0 genome.wustl.edu 37 7 76112249 76112249 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 76112249 76112249 A - DEL DTX2 ENST00000324432 human ensembl 74_37 +1 known frame_shift_del c.693 p.H232fs 0.794 NULL pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX2 HGNC ENSG00000091073 182 0 0 169 9 5.05618 PHTF2 0 genome.wustl.edu 37 7 77569580 77569581 + Frame_Shift_Ins INS - - T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 77569580 77569581 - T INS PHTF2 ENST00000248550 human ensembl 74_37 +1 known frame_shift_ins c.1701_1702 p.L569fs 1.000:1.000 NULL pfam_TF_homeodomain_male - no_errors PHTF2 HGNC ENSG00000006576 125 0 0 117 10 7.87402 PCLO 0 genome.wustl.edu 37 7 82390055 82390055 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 82390055 82390055 T - DEL PCLO ENST00000333891 human ensembl 74_37 -1 known frame_shift_del c.15188 p.K5063fs 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 58 0 0 39 7 15.2174 PCLO 0 genome.wustl.edu 37 7 82595088 82595089 + Frame_Shift_Ins INS - - T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 82595088 82595089 - T INS PCLO ENST00000333891 human ensembl 74_37 -1 known frame_shift_ins c.4016_4015 p.T1339fs 0.985:0.968 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 72 0 0 72 6 7.69231 CROT 0 genome.wustl.edu 37 7 87027909 87027909 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 87027909 87027909 T - DEL CROT ENST00000331536 human ensembl 74_37 +1 known frame_shift_del c.1788 p.C598fs 0.003 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CROT HGNC ENSG00000005469 92 0 0 63 20 24.0964 ABCB4 0 genome.wustl.edu 37 7 87051451 87051452 + Frame_Shift_Ins INS - - A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 87051451 87051452 - A INS ABCB4 ENST00000265723 human ensembl 74_37 -1 known frame_shift_ins c.2302_2301 p.T767fs 0.998:0.660 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB4 HGNC ENSG00000005471 50 0 0 44 8 15.3846 CYP51A1 0 genome.wustl.edu 37 7 91743159 91743160 + Splice_Site INS - - A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 91743159 91743160 - A INS CYP51A1 ENST00000003100 human ensembl 74_37 -1 known splice_site_ins c.1352-3_1352-2 e10-2 0.998:0.001 - - - no_errors CYP51A1 HGNC ENSG00000001630 61 0 0 65 9 12.1622 ERVW-1 0 genome.wustl.edu 37 7 92098886 92098886 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 92098886 92098886 A - DEL ERVW-1 ENST00000493463 human ensembl 74_37 -1 known frame_shift_del c.810 p.F270fs 0.349 pfam_TLV/ENV_coat_polyprotein pfam_TLV/ENV_coat_polyprotein - no_errors ERVW-1 HGNC ENSG00000242950 89 0 0 90 18 16.6667 SAMD9L 0 genome.wustl.edu 37 7 92760738 92760738 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 92760738 92760738 T - DEL SAMD9L ENST00000318238 human ensembl 74_37 -1 known frame_shift_del c.4547 p.N1516fs 0.000 NULL superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 119 1 0.833333 97 22 18.4874 TRRAP 0 genome.wustl.edu 37 7 98528335 98528336 + Frame_Shift_Ins INS - - G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 7 98528335 98528336 - G INS TRRAP ENST00000359863 human ensembl 74_37 +1 known frame_shift_ins c.3473_3474 p.V1161fs 1.000:1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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 TRRAP HGNC ENSG00000196367 110 0 0 103 12 10.4348 RGS22 0 genome.wustl.edu 37 8 100990178 100990178 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 100990178 100990178 T - DEL RGS22 ENST00000360863 human ensembl 74_37 -1 known frame_shift_del c.3486 p.K1162fs 0.010 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 62 0 0 56 6 9.67742 UBR5 0 genome.wustl.edu 37 8 103289349 103289349 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 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 90 0 0 92 39 29.771 UBR5 0 genome.wustl.edu 37 8 103324394 103324395 + Frame_Shift_Ins INS - - T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 103324394 103324395 - T INS UBR5 ENST00000520539 human ensembl 74_37 -1 known frame_shift_ins c.2231_2230 p.T744fs 1.000:1.000 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 41 0 0 33 7 17.5 EIF3H 0 genome.wustl.edu 37 8 117669464 117669464 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 117669464 117669464 A - DEL EIF3H ENST00000521861 human ensembl 74_37 -1 known frame_shift_del c.547 p.S183fs 1.000 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors EIF3H HGNC ENSG00000147677 114 0 0 89 15 14.4231 ENPP2 0 genome.wustl.edu 37 8 120598545 120598545 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 120598545 120598545 T - DEL ENPP2 ENST00000259486 human ensembl 74_37 -1 known frame_shift_del c.1404 p.K468fs 0.999 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,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC ENSG00000136960 90 0 0 97 6 5.82524 COL14A1 0 genome.wustl.edu 37 8 121259922 121259922 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 121259922 121259922 C - DEL COL14A1 ENST00000297848 human ensembl 74_37 +1 known frame_shift_del c.2550 p.P852fs 0.857 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 108 0 0 89 9 9.18367 ANXA13 0 genome.wustl.edu 37 8 124707762 124707762 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 124707762 124707762 T - DEL ANXA13 ENST00000262219 human ensembl 74_37 -1 known frame_shift_del c.574 p.I192fs 0.994 pfam_Annexin_repeat,smart_Annexin_repeat pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXIII - no_errors ANXA13 HGNC ENSG00000104537 206 0 0 151 35 18.8172 KIAA0196 0 genome.wustl.edu 37 8 126094634 126094634 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 126094634 126094634 T - DEL KIAA0196 ENST00000318410 human ensembl 74_37 -1 known frame_shift_del c.408 p.K136fs 1.000 pfam_WASH_strumpellin pfam_WASH_strumpellin,superfamily_Ig_E-set - no_errors KIAA0196 HGNC ENSG00000164961 67 0 0 71 15 17.4419 NSMCE2 0 genome.wustl.edu 37 8 126194349 126194351 + In_Frame_Del DEL AAG AAG - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 126194349 126194351 AAG - DEL NSMCE2 ENST00000287437 human ensembl 74_37 +1 known in_frame_del c.269_271 p.E92in_frame_del 1.000:1.000:1.000 NULL pfscan_Znf_MIZ - no_errors NSMCE2 HGNC ENSG00000156831 130 0 0 174 10 5.43478 PHF20L1 0 genome.wustl.edu 37 8 133836264 133836264 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 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 156 0 0 72 38 34.5455 PUF60 0 genome.wustl.edu 37 8 144900376 144900376 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 144900376 144900376 C - DEL PUF60 ENST00000526683 human ensembl 74_37 -1 known frame_shift_del c.590 p.G197fs 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd - no_errors PUF60 HGNC ENSG00000179950 19 0 0 18 2 10 SLC52A2 0 genome.wustl.edu 37 8 145582846 145582848 + Splice_Site DEL AGA AGA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 145582846 145582848 AGA - DEL SLC52A2 ENST00000402965 human ensembl 74_37 +1 known splice_site_del c.1-2_0 e1-1 0.000:0.000:0.000 - - - no_errors SLC52A2 HGNC ENSG00000185803 34 0 0 29 4 12.1212 VPS28 0 genome.wustl.edu 37 8 145652341 145652341 + RNA DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 145652341 145652341 G - DEL VPS28 ENST00000526734 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors VPS28 HGNC ENSG00000160948 24 0 0 13 4 23.5294 KIFC2 0 genome.wustl.edu 37 8 145692709 145692709 + Frame_Shift_Del DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 145692709 145692709 C - DEL KIFC2 ENST00000301332 human ensembl 74_37 +1 known frame_shift_del c.454 p.S154fs 0.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIFC2 HGNC ENSG00000167702 70 0 0 51 4 7.27273 PDGFRL 0 genome.wustl.edu 37 8 17486241 17486241 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 17486241 17486241 G - DEL PDGFRL ENST00000251630 human ensembl 74_37 +1 known frame_shift_del c.751 p.G252fs 0.323 NULL pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PDGFRL HGNC ENSG00000104213 34 0 0 36 11 23.4043 CCAR2 0 genome.wustl.edu 37 8 22473323 22473324 + Frame_Shift_Ins INS - - C TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 22473323 22473324 - C INS CCAR2 ENST00000308511 human ensembl 74_37 +1 known frame_shift_ins c.1506_1507 p.L504fs 0.680:0.809 NULL superfamily_NA-bd_OB-fold - no_errors CCAR2 HGNC ENSG00000158941 75 0 0 80 7 8.04598 RHOBTB2 0 genome.wustl.edu 37 8 22865592 22865592 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 22865592 22865592 G - DEL RHOBTB2 ENST00000251822 human ensembl 74_37 +1 known frame_shift_del c.1588 p.P532fs 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC ENSG00000008853 83 0 0 56 5 8.19672 ADAM28 0 genome.wustl.edu 37 8 24167707 24167709 + In_Frame_Del DEL TAT TAT - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 TAT TAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 24167707 24167709 TAT - DEL ADAM28 ENST00000265769 human ensembl 74_37 +1 known in_frame_del c.259_261 p.Y88in_frame_del 0.981:0.995:0.994 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM28 HGNC ENSG00000042980 77 0 0 61 17 21.7949 NRG1 0 genome.wustl.edu 37 8 32453511 32453511 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 32453511 32453511 A - DEL NRG1 ENST00000338921 human ensembl 74_37 +1 known frame_shift_del c.266 p.K91fs 0.998 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 155 0 0 139 21 13.125 PRKDC 0 genome.wustl.edu 37 8 48701554 48701555 + Frame_Shift_Ins INS - - T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 48701554 48701555 - T INS PRKDC ENST00000314191 human ensembl 74_37 -1 known frame_shift_ins c.10812_10811 p.N3604fs 0.004:0.000 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 56 0 0 60 7 10.4478 ST18 0 genome.wustl.edu 37 8 53062482 53062482 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 53062482 53062482 T - DEL ST18 ENST00000276480 human ensembl 74_37 -1 known frame_shift_del c.1862 p.N621fs 1.000 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 82 0 0 109 13 10.6557 SDR16C5 0 genome.wustl.edu 37 8 57219270 57219270 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 57219270 57219270 A - DEL SDR16C5 ENST00000303749 human ensembl 74_37 -1 known frame_shift_del c.675 p.F225fs 0.996 prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors SDR16C5 HGNC ENSG00000170786 78 0 0 82 10 10.8696 CLVS1 0 genome.wustl.edu 37 8 62412295 62412295 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 62412295 62412295 T - DEL CLVS1 ENST00000518858 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors CLVS1 HGNC ENSG00000177182 12 0 0 4 2 33.3333 PDE7A 0 genome.wustl.edu 37 8 66635839 66635840 + Frame_Shift_Ins INS - - T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 66635839 66635840 - T INS PDE7A ENST00000401827 human ensembl 74_37 -1 known frame_shift_ins c.1180_1179 p.Y393fs 1.000:1.000 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE7A HGNC ENSG00000205268 45 0 0 29 4 12.1212 MYBL1 0 genome.wustl.edu 37 8 67488453 67488453 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 67488453 67488453 T - DEL MYBL1 ENST00000522677 human ensembl 74_37 -1 known frame_shift_del c.1259 p.N420fs 0.992 NULL pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL1 HGNC ENSG00000185697 213 0 0 185 51 21.6102 SGK3 0 genome.wustl.edu 37 8 67752239 67752239 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 67752239 67752239 T - DEL SGK3 ENST00000345714 human ensembl 74_37 +1 known frame_shift_del c.743 p.F250fs 0.999 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Phox,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Phox,pfscan_Prot_kinase_dom - no_errors SGK3 HGNC ENSG00000104205 62 0 0 46 22 32.3529 PREX2 0 genome.wustl.edu 37 8 68992721 68992721 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 68992721 68992721 T - DEL PREX2 ENST00000288368 human ensembl 74_37 +1 known frame_shift_del c.1686 p.S565fs 0.015 smart_DEP_dom,pfscan_DEP_dom 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 75 0 0 58 22 27.5 EYA1 0 genome.wustl.edu 37 8 72156850 72156850 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 72156850 72156850 A - DEL EYA1 ENST00000340726 human ensembl 74_37 -1 known frame_shift_del c.1128 p.F376fs 0.955 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA1 HGNC ENSG00000104313 31 0 0 23 7 23.3333 TERF1 0 genome.wustl.edu 37 8 73934470 73934470 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 73934470 73934470 A - DEL TERF1 ENST00000276603 human ensembl 74_37 +1 known frame_shift_del c.557 p.N187fs 1.000 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 74 0 0 79 5 5.95238 STAU2 0 genome.wustl.edu 37 8 74526000 74526000 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 74526000 74526000 T - DEL STAU2 ENST00000524300 human ensembl 74_37 -1 known frame_shift_del c.870 p.K290fs 1.000 NULL pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors STAU2 HGNC ENSG00000040341 45 0 0 41 6 12.766 ZFHX4 0 genome.wustl.edu 37 8 77617546 77617547 + Frame_Shift_Ins INS - - G TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 77617546 77617547 - G INS ZFHX4 ENST00000521891 human ensembl 74_37 +1 known frame_shift_ins c.1223_1224 p.L411fs 1.000:1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 59 0 0 56 6 9.67742 PSKH2 0 genome.wustl.edu 37 8 87076406 87076406 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 87076406 87076406 T - DEL PSKH2 ENST00000276616 human ensembl 74_37 -1 known frame_shift_del c.640 p.S214fs 0.983 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PSKH2 HGNC ENSG00000147613 100 0 0 86 11 11.3402 TMEM67 0 genome.wustl.edu 37 8 94828723 94828723 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 94828723 94828723 A - DEL TMEM67 ENST00000463467 human ensembl 74_37 +1 putative rna NULL NULL 0.614 - - - no_errors TMEM67 HGNC ENSG00000164953 26 0 0 34 7 17.0732 CDH17 0 genome.wustl.edu 37 8 95186357 95186357 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 95186357 95186357 T - DEL CDH17 ENST00000027335 human ensembl 74_37 -1 known frame_shift_del c.556 p.T186fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH17 HGNC ENSG00000079112 211 0 0 214 12 5.30973 KIAA1429 0 genome.wustl.edu 37 8 95531563 95531563 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 95531563 95531563 A - DEL KIAA1429 ENST00000297591 human ensembl 74_37 -1 known frame_shift_del c.2163 p.F721fs 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 83 0 0 68 25 26.8817 INTS8 0 genome.wustl.edu 37 8 95892421 95892421 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 95892421 95892421 A - DEL INTS8 ENST00000523731 human ensembl 74_37 +1 known frame_shift_del c.2947 p.K985fs 1.000 NULL NULL - no_errors INTS8 HGNC ENSG00000164941 78 0 0 89 18 16.8224 ENSG00000270077 0 genome.wustl.edu 37 8 98156579 98156582 + RNA DEL AAAA AAAA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 98156579 98156582 AAAA - DEL ENSG00000270077 ENST00000602771 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.045:0.000 - - - no_errors KB-1958F4.1 Clone_based_vega_gene ENSG00000270077 9 0 0 3 2 40 SNORA72 0 genome.wustl.edu 37 8 99054504 99054504 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 8 99054504 99054504 T - DEL SNORA72 ENST00000501016 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors KB-1208A12.3 Clone_based_vega_gene ENSG00000245970 15 0 0 15 5 25 NANS 0 genome.wustl.edu 37 9 100845320 100845320 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 100845320 100845320 A - DEL NANS ENST00000210444 human ensembl 74_37 +1 known frame_shift_del c.1063 p.I357fs 1.000 superfamily_AFP_Neu5c_C pfam_Neu5Ac_N,pfam_SAF,superfamily_AFP_Neu5c_C,smart_SAF,pfscan_AFP_Neu5c_C,prints_Antifreeze_III - no_errors NANS HGNC ENSG00000095380 63 0 0 56 10 15.1515 C9orf114 0 genome.wustl.edu 37 9 131591119 131591120 + Frame_Shift_Ins INS - - T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 131591119 131591120 - T INS C9orf114 ENST00000361256 human ensembl 74_37 -1 known frame_shift_ins c.103_102 p.W34fs 1.000:0.998 NULL pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold - no_errors C9orf114 HGNC ENSG00000198917 130 0 0 94 19 16.8142 C9orf106 0 genome.wustl.edu 37 9 132084806 132084806 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 132084806 132084806 A - DEL C9orf106 ENST00000316786 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C9orf106 HGNC ENSG00000179082 75 0 0 67 9 11.8421 TOR1B 0 genome.wustl.edu 37 9 132571788 132571788 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 132571788 132571788 T - DEL TOR1B ENST00000259339 human ensembl 74_37 +1 known frame_shift_del c.937 p.F314fs 0.988 superfamily_P-loop_NTPase,pirsf_Torsin_subgr pfam_Torsin,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,pirsf_Torsin_subgr - no_errors TOR1B HGNC ENSG00000136816 111 0 0 72 19 20.8791 C9orf78 0 genome.wustl.edu 37 9 132596001 132596001 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 132596001 132596001 A - DEL C9orf78 ENST00000461762 human ensembl 74_37 -1 known rna NULL NULL 0.115 - - - no_errors C9orf78 HGNC ENSG00000136819 49 0 0 30 5 14.2857 NUP214 0 genome.wustl.edu 37 9 134003840 134003840 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 134003840 134003840 T - DEL NUP214 ENST00000451030 human ensembl 74_37 +1 known frame_shift_del c.363 p.F123fs 0.997 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 129 0 0 92 27 22.6891 ENSG00000236986 0 genome.wustl.edu 37 9 134008392 134008392 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 134008392 134008392 T - DEL ENSG00000236986 ENST00000587264 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-544A12.4 Clone_based_vega_gene ENSG00000236986 37 0 0 23 6 20.6897 TSC1 0 genome.wustl.edu 37 9 135804209 135804209 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 135804209 135804209 G - DEL TSC1 ENST00000298552 human ensembl 74_37 -1 known frame_shift_del c.51 p.M18fs 0.000 pfam_Hamartin,superfamily_ARM-type_fold pfam_Hamartin,superfamily_ARM-type_fold - no_errors TSC1 HGNC ENSG00000165699 50 0 0 65 17 20.7317 BRD3 0 genome.wustl.edu 37 9 136918529 136918529 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 136918529 136918529 G - DEL BRD3 ENST00000303407 human ensembl 74_37 -1 known frame_shift_del c.71 p.P24fs 1.000 superfamily_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 27 0 0 16 4 20 SEC16A 0 genome.wustl.edu 37 9 139370379 139370379 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 139370379 139370379 A - DEL SEC16A ENST00000313050 human ensembl 74_37 -1 known frame_shift_del c.1689 p.F563fs 1.000 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 29 0 0 13 2 13.3333 PSIP1 0 genome.wustl.edu 37 9 15472612 15472613 + RNA DEL AA AA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 15472612 15472613 AA - DEL PSIP1 ENST00000495873 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors PSIP1 HGNC ENSG00000164985 96 0 0 57 20 25.974 TOPORS 0 genome.wustl.edu 37 9 32544122 32544122 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 32544122 32544122 T - DEL TOPORS ENST00000360538 human ensembl 74_37 -1 known frame_shift_del c.401 p.N134fs 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors TOPORS HGNC ENSG00000197579 164 0 0 81 53 39.5522 TAF1L 0 genome.wustl.edu 37 9 32633584 32633584 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 32633584 32633584 T - DEL TAF1L ENST00000242310 human ensembl 74_37 -1 known frame_shift_del c.1994 p.K665fs 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 0 115 24 17.2662 SIGMAR1 0 genome.wustl.edu 37 9 34636896 34636896 + RNA DEL C C - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 34636896 34636896 C - DEL SIGMAR1 ENST00000478146 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors SIGMAR1 HGNC ENSG00000147955 11 0 0 7 2 22.2222 DOCK8 0 genome.wustl.edu 37 9 405015 405015 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 405015 405015 T - DEL DOCK8 ENST00000453981 human ensembl 74_37 +1 known frame_shift_del c.3332 p.F1113fs 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 58 0 0 57 14 19.7183 CNTNAP3B 0 genome.wustl.edu 37 9 43844265 43844265 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 43844265 43844265 G - DEL CNTNAP3B ENST00000377564 human ensembl 74_37 +1 known frame_shift_del c.1599 p.L534fs 0.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3B HGNC ENSG00000154529 123 0 0 75 4 5.06329 KIAA2026 0 genome.wustl.edu 37 9 5968044 5968044 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 5968044 5968044 T - DEL KIAA2026 ENST00000399933 human ensembl 74_37 -1 novel frame_shift_del c.2187 p.A730fs 1.000 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 19 0 0 8 2 20 FAM122A 0 genome.wustl.edu 37 9 71395787 71395788 + Frame_Shift_Del DEL GT GT - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 71395787 71395788 GT - DEL FAM122A ENST00000394264 human ensembl 74_37 +1 known frame_shift_del c.707_708 p.V239fs 0.152:0.077 NULL NULL - no_errors FAM122A HGNC ENSG00000187866 188 0 0 127 37 22.561 TRPM3 0 genome.wustl.edu 37 9 73151921 73151922 + Frame_Shift_Ins INS - - A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 73151921 73151922 - A INS TRPM3 ENST00000423814 human ensembl 74_37 -1 known frame_shift_ins c.4153_4152 p.K1384fs 1.000:1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 195 0 0 100 24 19.3548 FRMD3 0 genome.wustl.edu 37 9 85914050 85914050 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 9 85914050 85914050 A - DEL FRMD3 ENST00000304195 human ensembl 74_37 -1 known frame_shift_del c.978 p.F326fs 1.000 pfam_FERM-adjacent 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 FRMD3 HGNC ENSG00000172159 74 0 0 56 14 20 ZMAT1 0 genome.wustl.edu 37 X 101138439 101138439 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 101138439 101138439 T - DEL ZMAT1 ENST00000494068 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZMAT1 HGNC ENSG00000166432 27 0 0 11 18 62.069 UTP14A 0 genome.wustl.edu 37 X 129055622 129055622 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 129055622 129055622 A - DEL UTP14A ENST00000498179 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors UTP14A HGNC ENSG00000156697 18 0 0 24 6 20 USP26 0 genome.wustl.edu 37 X 132160413 132160413 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 132160413 132160413 T - DEL USP26 ENST00000370832 human ensembl 74_37 -1 known frame_shift_del c.1836 p.G613fs 0.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP26 HGNC ENSG00000134588 42 0 0 24 14 36.8421 MAP7D3 0 genome.wustl.edu 37 X 135313186 135313186 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 135313186 135313186 T - DEL MAP7D3 ENST00000477124 human ensembl 74_37 -1 putative rna NULL NULL 0.018 - - - no_errors MAP7D3 HGNC ENSG00000129680 15 0 0 14 8 36.3636 RBMX 0 genome.wustl.edu 37 X 135961586 135961588 + Frame_Shift_Del DEL TGT TGT - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 TGT TGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 135961586 135961588 TGT - DEL RBMX ENST00000320676 human ensembl 74_37 -1 known frame_shift_del c.1 p.M1fs 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMX HGNC ENSG00000147274 58 0 0 48 7 12.7273 MCF2 0 genome.wustl.edu 37 X 138701772 138701773 + Frame_Shift_Ins INS - - T TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 138701772 138701773 - T INS MCF2 ENST00000370578 human ensembl 74_37 -1 known frame_shift_ins c.1216_1215 p.L405fs 0.073:0.002 smart_Spectrin/alpha-actinin pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2 HGNC ENSG00000101977 31 0 0 12 10 45.4545 AVPR2 0 genome.wustl.edu 37 X 153171693 153171693 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 153171693 153171693 G - DEL AVPR2 ENST00000337474 human ensembl 74_37 +1 known frame_shift_del c.733 p.R247fs 0.003 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vprsn_rcpt_V2 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vprsn_rcpt_V2,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR2 HGNC ENSG00000126895 32 0 0 17 5 22.7273 F8 0 genome.wustl.edu 37 X 154157686 154157686 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 154157686 154157686 T - DEL F8 ENST00000360256 human ensembl 74_37 -1 known frame_shift_del c.4379 p.N1460fs 0.012 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 56 0 0 49 29 37.1795 CA5B 0 genome.wustl.edu 37 X 15790676 15790676 + Frame_Shift_Del DEL G G - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 15790676 15790676 G - DEL CA5B ENST00000318636 human ensembl 74_37 +1 known frame_shift_del c.398 p.A135fs 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 CA5B HGNC ENSG00000169239 156 0 0 78 41 34.4538 DMD 0 genome.wustl.edu 37 X 31227807 31227808 + Frame_Shift_Del DEL AA AA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 31227807 31227808 AA - DEL DMD ENST00000357033 human ensembl 74_37 -1 known frame_shift_del c.9371_9370 p.L3124fs 1.000:1.000 pfam_EF-hand_dom_typ1,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 23 0 0 9 19 67.8571 MXRA5 0 genome.wustl.edu 37 X 3240185 3240185 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 3240185 3240185 A - DEL MXRA5 ENST00000217939 human ensembl 74_37 -1 known frame_shift_del c.3541 p.S1181fs 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 67 0 0 28 27 49.0909 BCOR 0 genome.wustl.edu 37 X 39913265 39913265 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 39913265 39913265 A - DEL BCOR ENST00000378444 human ensembl 74_37 -1 known frame_shift_del c.4850 p.L1617fs 0.997 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 18 0 0 17 12 41.3793 BCOR 0 genome.wustl.edu 37 X 39934127 39934127 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 39934127 39934127 T - DEL BCOR ENST00000378444 human ensembl 74_37 -1 known frame_shift_del c.472 p.S158fs 0.984 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 40 0 0 29 7 19.4444 WDR45 0 genome.wustl.edu 37 X 48933099 48933101 + In_Frame_Del DEL AGG AGG - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 48933099 48933101 AGG - DEL WDR45 ENST00000322995 human ensembl 74_37 -1 known in_frame_del c.784_782 p.S261in_frame_del 1.000:1.000:1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR45 HGNC ENSG00000196998 12 0 0 7 3 30 AMER1 0 genome.wustl.edu 37 X 63412648 63412648 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 63412648 63412648 A - DEL AMER1 ENST00000330258 human ensembl 74_37 -1 known frame_shift_del c.519 p.F173fs 0.899 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors AMER1 HGNC ENSG00000184675 44 0 0 27 9 25 DLG3 0 genome.wustl.edu 37 X 69722114 69722115 + Frame_Shift_Del DEL CT CT - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 69722114 69722115 CT - DEL DLG3 ENST00000194900 human ensembl 74_37 +1 known frame_shift_del c.2545_2546 p.*850fs 1.000:1.000 NULL pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG3 HGNC ENSG00000082458 19 0 0 8 10 55.5556 XIST 0 genome.wustl.edu 37 X 73046080 73046080 + RNA DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 73046080 73046080 T - DEL XIST ENST00000416330 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 79 0 0 57 11 16.1765 XIST 0 genome.wustl.edu 37 X 73071762 73071762 + RNA DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 73071762 73071762 A - DEL XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.649 - - - no_errors XIST HGNC ENSG00000229807 131 0 0 62 9 12.6761 XIST 0 genome.wustl.edu 37 X 73072090 73072091 + RNA INS - - A TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 73072090 73072091 - A INS XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.049:0.002 - - - no_errors XIST HGNC ENSG00000229807 12 0 0 12 4 25 FAM9A 0 genome.wustl.edu 37 X 8763306 8763307 + In_Frame_Ins INS - - CTG TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 8763306 8763307 - CTG INS FAM9A ENST00000381003 human ensembl 74_37 -1 known in_frame_ins c.644_643 p.215in_frame_insA 0.088:0.108 NULL NULL - no_errors FAM9A HGNC ENSG00000183304 9 0 0 3 2 40 FAM9A 0 genome.wustl.edu 37 X 8764320 8764320 + Frame_Shift_Del DEL T T - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 X 8764320 8764320 T - DEL FAM9A ENST00000381003 human ensembl 74_37 -1 known frame_shift_del c.477 p.K159fs 0.007 NULL NULL - no_errors FAM9A HGNC ENSG00000183304 19 0 0 4 7 63.6364 USP9Y 0 genome.wustl.edu 37 Y 14968773 14968775 + RNA DEL AAA AAA - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 Y 14968773 14968775 AAA - DEL USP9Y ENST00000471409 human ensembl 74_37 +1 known rna NULL NULL 0.995:0.996:0.998 - - - no_errors USP9Y HGNC ENSG00000114374 15 0 0 5 4 44.4444 UTY 0 genome.wustl.edu 37 Y 15411007 15411007 + Frame_Shift_Del DEL A A - TCGA-BR-4184-01A-01D-1126-08 TCGA-BR-4184-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d19854c-b88b-42a6-aac4-4daed4ed5b7e 6be02310-66c9-482c-8a7d-a281d25f5102 Y 15411007 15411007 A - DEL UTY ENST00000382896 human ensembl 74_37 -1 known frame_shift_del c.3542 p.L1181fs 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UTY HGNC ENSG00000183878 26 0 0 7 3 30