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 APITD1 0 genome.wustl.edu 37 1 10502436 10502436 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 10502436 10502436 G A SNP APITD1 ENST00000309048 human ensembl 74_37 +1 known missense c.391 p.A131T 0.509 NULL pfam_TFIID-31,superfamily_Histone-fold - no_errors APITD1 HGNC ENSG00000175279 99 0 0 54 22 28.9474 GNAI3 0 genome.wustl.edu 37 1 110134705 110134705 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 110134705 110134705 C T SNP GNAI3 ENST00000369851 human ensembl 74_37 +1 known silent c.915 p.C305 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_Gprotein_alpha pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_Gprotein_alpha - no_errors GNAI3 HGNC ENSG00000065135 45 0 0 25 7 21.875 KCNA10 0 genome.wustl.edu 37 1 111060871 111060871 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 111060871 111060871 C T SNP KCNA10 ENST00000369771 human ensembl 74_37 -1 known missense c.539 p.R180Q 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA10 HGNC ENSG00000143105 87 0 0 33 8 19.5122 WNT2B 0 genome.wustl.edu 37 1 113057636 113057636 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 113057636 113057636 A G SNP WNT2B ENST00000369684 human ensembl 74_37 +1 known missense c.323 p.Q108R 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2 - no_errors WNT2B HGNC ENSG00000134245 37 0 0 18 9 33.3333 LRIG2 0 genome.wustl.edu 37 1 113666514 113666514 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 113666514 113666514 G A SNP LRIG2 ENST00000361127 human ensembl 74_37 +1 known missense c.2989 p.V997M 0.720 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG2 HGNC ENSG00000198799 31 0 0 10 9 47.3684 MAGI3 0 genome.wustl.edu 37 1 114201800 114201800 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 114201800 114201800 T C SNP MAGI3 ENST00000369611 human ensembl 74_37 +1 known missense c.2728 p.S910P 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI3 HGNC ENSG00000081026 96 0 0 54 17 23.9437 PHTF1 0 genome.wustl.edu 37 1 114247302 114247302 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 114247302 114247302 G A SNP PHTF1 ENST00000369604 human ensembl 74_37 -1 known missense c.1789 p.R597C 1.000 NULL pfam_TF_homeodomain_male - no_errors PHTF1 HGNC ENSG00000116793 84 0 0 41 10 19.6078 FBXO44 0 genome.wustl.edu 37 1 11716005 11716005 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 11716005 11716005 G A SNP FBXO44 ENST00000251547 human ensembl 74_37 +1 known missense c.113 p.R38Q 0.915 pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_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 FBXO44 HGNC ENSG00000132879 58 0 0 22 15 40.5405 CLCN6 0 genome.wustl.edu 37 1 11894557 11894557 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 11894557 11894557 G A SNP CLCN6 ENST00000346436 human ensembl 74_37 +1 known missense c.1703 p.G568E 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-6 - no_errors CLCN6 HGNC ENSG00000011021 91 0 0 60 20 25 PIAS3 0 genome.wustl.edu 37 1 145580520 145580520 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 145580520 145580520 G A SNP PIAS3 ENST00000393045 human ensembl 74_37 +1 known missense c.820 p.V274M 1.000 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS3 HGNC ENSG00000131788 89 0 0 75 13 14.7727 ATAD3A 0 genome.wustl.edu 37 1 1455959 1455959 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 1455959 1455959 C A SNP ATAD3A ENST00000378755 human ensembl 74_37 +1 known missense c.856 p.R286S 1.000 pfam_DUF3523 pfam_DUF3523,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD3A HGNC ENSG00000197785 82 0 0 36 18 33.3333 PRPF3 0 genome.wustl.edu 37 1 150307612 150307612 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 150307612 150307612 A G SNP PRPF3 ENST00000324862 human ensembl 74_37 +1 known missense c.935 p.D312G 1.000 pfam_Pre-mRNA_splic_Prp3 pfam_Pre-mRNA_splic_Prp3,pfam_DUF1115,pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom - no_errors PRPF3 HGNC ENSG00000117360 57 0 0 49 7 12.5 RPRD2 0 genome.wustl.edu 37 1 150444651 150444651 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 150444651 150444651 A G SNP RPRD2 ENST00000369068 human ensembl 74_37 +1 known missense c.3227 p.D1076G 0.986 superfamily_Ricin_B_lectin pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_CID_dom - no_errors RPRD2 HGNC ENSG00000163125 92 0 0 106 17 13.8211 CGN 0 genome.wustl.edu 37 1 151502010 151502010 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 151502010 151502010 G A SNP CGN ENST00000271636 human ensembl 74_37 +1 known missense c.2081 p.R694Q 0.997 NULL pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 24 0 0 43 3 6.52174 RORC 0 genome.wustl.edu 37 1 151786072 151786072 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 151786072 151786072 A G SNP RORC ENST00000392697 human ensembl 74_37 -1 known missense c.1120 p.C374R 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,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 RORC HGNC ENSG00000143365 30 0 0 27 4 12.9032 TCHH 0 genome.wustl.edu 37 1 152082386 152082386 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 152082386 152082386 G A SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.3307 p.R1103C 0.176 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 99 0 0 88 19 17.757 FLG 0 genome.wustl.edu 37 1 152283156 152283156 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 152283156 152283156 T C SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.4206 p.S1402 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 343 0 0 329 59 15.2062 CRNN 0 genome.wustl.edu 37 1 152383276 152383276 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 152383276 152383276 C A SNP CRNN ENST00000271835 human ensembl 74_37 -1 known missense c.282 p.E94D 0.118 NULL pfam_S100_Ca-bd_sub,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CRNN HGNC ENSG00000143536 111 1 0.892857 112 29 20.5674 SPRR2E 0 genome.wustl.edu 37 1 153066064 153066064 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 153066064 153066064 G T SNP SPRR2E ENST00000368750 human ensembl 74_37 -1 known missense c.164 p.P55H 0.814 NULL NULL - no_errors SPRR2E HGNC ENSG00000203785 143 0 0 130 21 13.9073 S100A16 0 genome.wustl.edu 37 1 153580105 153580105 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 153580105 153580105 G A SNP S100A16 ENST00000368703 human ensembl 74_37 -1 known missense c.217 p.R73C 1.000 pfscan_EF_hand_dom pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors S100A16 HGNC ENSG00000188643 48 0 0 39 8 17.0213 UBAP2L 0 genome.wustl.edu 37 1 154242685 154242685 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 154242685 154242685 G A SNP UBAP2L ENST00000361546 human ensembl 74_37 +1 known missense c.3178 p.G1060R 1.000 NULL pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2L HGNC ENSG00000143569 67 0 0 51 13 20.3125 THBS3 0 genome.wustl.edu 37 1 155165843 155165843 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 155165843 155165843 C T SNP THBS3 ENST00000368378 human ensembl 74_37 -1 known missense c.2747 p.R916H 1.000 pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf 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 THBS3 HGNC ENSG00000169231 166 0 0 142 27 15.9763 GBA 0 genome.wustl.edu 37 1 155206139 155206139 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 155206139 155206139 A G SNP GBA ENST00000327247 human ensembl 74_37 -1 known missense c.1121 p.M374T 1.000 pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_30 - no_errors GBA HGNC ENSG00000177628 53 0 0 40 4 9.09091 ASH1L 0 genome.wustl.edu 37 1 155324299 155324299 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 155324299 155324299 T C SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.7193 p.N2398S 1.000 superfamily_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 164 0 0 146 30 17.0455 PAQR6 0 genome.wustl.edu 37 1 156213673 156213673 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 156213673 156213673 C T SNP PAQR6 ENST00000335852 human ensembl 74_37 -1 known silent c.1035 p.E345 0.022 NULL pfam_HlyIII-related - no_errors PAQR6 HGNC ENSG00000160781 264 0 0 255 56 18.0064 SMG5 0 genome.wustl.edu 37 1 156230321 156230321 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 156230321 156230321 C T SNP SMG5 ENST00000361813 human ensembl 74_37 -1 known missense c.2204 p.R735H 0.998 NULL pfam_EST1,smart_PIN_dom - no_errors SMG5 HGNC ENSG00000198952 68 0 0 63 12 16 C1orf85 0 genome.wustl.edu 37 1 156264628 156264628 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 156264628 156264628 T C SNP C1orf85 ENST00000362007 human ensembl 74_37 -1 known silent c.300 p.L100 0.004 NULL NULL - no_errors C1orf85 HGNC ENSG00000198715 120 0 0 121 25 17.1233 VHLL 0 genome.wustl.edu 37 1 156268937 156268937 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 156268937 156268937 G A SNP VHLL ENST00000339922 human ensembl 74_37 -1 known missense c.44 p.A15V 0.002 NULL pfam_VHL_tumour_suppress_b/a_dom,superfamily_VHL_tumour_suppress_b/a_dom - no_errors VHLL HGNC ENSG00000189030 47 0 0 54 6 10 BCAN 0 genome.wustl.edu 37 1 156616821 156616821 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 156616821 156616821 G A SNP BCAN ENST00000329117 human ensembl 74_37 +1 known missense c.320 p.R107H 1.000 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,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 17 0 0 18 4 18.1818 BCAN 0 genome.wustl.edu 37 1 156622146 156622146 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 156622146 156622146 A G SNP BCAN ENST00000329117 human ensembl 74_37 +1 known silent c.1404 p.E468 0.070 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom - no_errors BCAN HGNC ENSG00000132692 22 0 0 31 10 24.3902 NES 0 genome.wustl.edu 37 1 156642953 156642953 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 156642953 156642953 G A SNP NES ENST00000368223 human ensembl 74_37 -1 known missense c.1027 p.R343C 0.025 NULL pfam_IF - no_errors NES HGNC ENSG00000132688 19 0 0 18 2 10 RRNAD1 0 genome.wustl.edu 37 1 156704046 156704046 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 156704046 156704046 C T SNP RRNAD1 ENST00000368216 human ensembl 74_37 +1 known silent c.882 p.G294 0.009 NULL NULL - no_errors RRNAD1 HGNC ENSG00000143303 20 0 0 22 8 26.6667 ARHGEF11 0 genome.wustl.edu 37 1 156909341 156909341 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 156909341 156909341 T C SNP ARHGEF11 ENST00000368194 human ensembl 74_37 -1 known silent c.4095 p.K1365 1.000 NULL pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,pfam_RGS_dom,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 79 0 0 86 12 12.2449 FCRL4 0 genome.wustl.edu 37 1 157548310 157548310 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 157548310 157548310 C T SNP FCRL4 ENST00000271532 human ensembl 74_37 -1 known silent c.1383 p.L461 0.003 NULL pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL4 HGNC ENSG00000163518 60 0 0 52 4 7.14286 FCRL2 0 genome.wustl.edu 37 1 157738406 157738406 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 157738406 157738406 T C SNP FCRL2 ENST00000361516 human ensembl 74_37 -1 known silent c.681 p.S227 0.024 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL2 HGNC ENSG00000132704 131 0 0 102 30 22.7273 OR10X1 0 genome.wustl.edu 37 1 158549421 158549421 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 158549421 158549421 G A SNP OR10X1 ENST00000368150 human ensembl 74_37 -1 known missense c.269 p.T90M 0.990 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 OR10X1 HGNC ENSG00000186400 85 0 0 48 55 53.3981 SPTA1 0 genome.wustl.edu 37 1 158615094 158615094 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 158615094 158615094 G A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.4078 p.H1360Y 0.998 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 91 0 0 82 15 15.4639 NHLH1 0 genome.wustl.edu 37 1 160340833 160340833 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 160340833 160340833 G A SNP NHLH1 ENST00000302101 human ensembl 74_37 +1 known silent c.312 p.T104 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 NHLH1 HGNC ENSG00000171786 64 0 0 63 17 21.25 SLAMF7 0 genome.wustl.edu 37 1 160718187 160718187 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 160718187 160718187 G T SNP SLAMF7 ENST00000368043 human ensembl 74_37 +1 known missense c.259 p.G87C 0.000 pfam_Ig_V-set pfam_Ig_V-set,pfscan_Ig-like_dom - no_errors SLAMF7 HGNC ENSG00000026751 76 0 0 49 6 10.9091 CD244 0 genome.wustl.edu 37 1 160803894 160803894 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 160803894 160803894 T C SNP CD244 ENST00000368033 human ensembl 74_37 -1 known missense c.922 p.T308A 0.001 NULL pfam_NK_rcpt_2B4_Ig_dom,pfscan_Ig-like_dom - no_errors CD244 HGNC ENSG00000122223 106 0 0 96 17 15.0442 USF1 0 genome.wustl.edu 37 1 161012379 161012379 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 161012379 161012379 A G SNP USF1 ENST00000368020 human ensembl 74_37 -1 known missense c.140 p.V47A 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors USF1 HGNC ENSG00000158773 41 0 0 26 8 23.5294 USP21 0 genome.wustl.edu 37 1 161134845 161134845 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 161134845 161134845 C T SNP USP21 ENST00000289865 human ensembl 74_37 +1 known missense c.1519 p.L507F 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP21 HGNC ENSG00000143258 49 0 0 41 8 16.3265 HSPA6 0 genome.wustl.edu 37 1 161494672 161494672 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 161494672 161494672 T C SNP HSPA6 ENST00000309758 human ensembl 74_37 +1 known missense c.224 p.L75P 0.999 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA6 HGNC ENSG00000173110 18 0 0 41 7 14.5833 HSPA6 0 genome.wustl.edu 37 1 161495689 161495689 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 161495689 161495689 C T SNP HSPA6 ENST00000309758 human ensembl 74_37 +1 known missense c.1241 p.T414M 0.042 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA6 HGNC ENSG00000173110 23 0 0 22 6 21.4286 NUF2 0 genome.wustl.edu 37 1 163310207 163310207 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 163310207 163310207 C T SNP NUF2 ENST00000497990 human ensembl 74_37 +1 known missense c.656 p.P219L 0.986 NULL pfam_Kinetochore_Nuf2 - no_errors NUF2 HGNC ENSG00000143228 105 0 0 78 18 18.75 CDK11A 0 genome.wustl.edu 37 1 1635565 1635565 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 1635565 1635565 C T SNP CDK11A ENST00000404249 human ensembl 74_37 -1 known silent c.1707 p.A569 0.164 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 CDK11A HGNC ENSG00000008128 25 0 0 6 4 40 EPHA2 0 genome.wustl.edu 37 1 16459802 16459802 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 16459802 16459802 C T SNP EPHA2 ENST00000358432 human ensembl 74_37 -1 known silent c.1926 p.P642 0.005 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA2 HGNC ENSG00000142627 58 0 0 35 15 30 MGST3 0 genome.wustl.edu 37 1 165623555 165623555 + Nonsense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 165623555 165623555 C T SNP MGST3 ENST00000367886 human ensembl 74_37 +1 known nonsense c.331 p.R111* 1.000 pfam_Membr-assoc_MAPEG pfam_Membr-assoc_MAPEG - no_errors MGST3 HGNC ENSG00000143198 131 0 0 129 21 14 DCAF6 0 genome.wustl.edu 37 1 167971802 167971802 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 167971802 167971802 G A SNP DCAF6 ENST00000367840 human ensembl 74_37 +1 known missense c.986 p.R329Q 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom - no_errors DCAF6 HGNC ENSG00000143164 72 0 0 65 21 24.4186 NADK 0 genome.wustl.edu 37 1 1687948 1687948 + Nonsense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 1687948 1687948 G A SNP NADK ENST00000344463 human ensembl 74_37 -1 known nonsense c.928 p.R310* 1.000 superfamily_ATP-NAD_kinase_PpnK-typ pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ - no_errors NADK HGNC ENSG00000008130 32 0 0 21 5 19.2308 METTL13 0 genome.wustl.edu 37 1 171763553 171763553 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 171763553 171763553 G A SNP METTL13 ENST00000361735 human ensembl 74_37 +1 known missense c.1711 p.V571I 1.000 pfam_Spermidine/spermine_synthase pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase - no_errors METTL13 HGNC ENSG00000010165 35 0 0 35 5 12.5 TNR 0 genome.wustl.edu 37 1 175325505 175325505 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 175325505 175325505 G A SNP TNR ENST00000263525 human ensembl 74_37 -1 known missense c.3068 p.A1023V 1.000 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_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 101 0 0 93 17 15.4545 RASAL2 0 genome.wustl.edu 37 1 178427415 178427415 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 178427415 178427415 A G SNP RASAL2 ENST00000367649 human ensembl 74_37 +1 known missense c.2988 p.I996M 1.000 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors RASAL2 HGNC ENSG00000075391 70 0 0 45 7 13.4615 MR1 0 genome.wustl.edu 37 1 181021588 181021588 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 181021588 181021588 C T SNP MR1 ENST00000367580 human ensembl 74_37 +1 known silent c.822 p.N274 0.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors MR1 HGNC ENSG00000153029 65 0 0 44 9 16.9811 LAMC2 0 genome.wustl.edu 37 1 183190061 183190061 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 183190061 183190061 A G SNP LAMC2 ENST00000264144 human ensembl 74_37 +1 known missense c.605 p.Y202C 0.999 superfamily_Growth_fac_rcpt_N_dom pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin - no_errors LAMC2 HGNC ENSG00000058085 81 0 0 58 10 14.7059 HMCN1 0 genome.wustl.edu 37 1 185964206 185964206 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 185964206 185964206 G A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.3765 p.T1255 0.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 93 0 0 76 16 17.3913 PRG4 0 genome.wustl.edu 37 1 186276818 186276818 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 186276818 186276818 C T SNP PRG4 ENST00000445192 human ensembl 74_37 +1 known missense c.1967 p.P656L 0.000 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 47 0 0 61 6 8.95522 PRG4 0 genome.wustl.edu 37 1 186276820 186276820 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 186276820 186276820 A G SNP PRG4 ENST00000445192 human ensembl 74_37 +1 known missense c.1969 p.T657A 0.000 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 46 0 0 61 6 8.95522 TPR 0 genome.wustl.edu 37 1 186300667 186300667 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 186300667 186300667 T C SNP TPR ENST00000367478 human ensembl 74_37 -1 known missense c.5651 p.Q1884R 0.109 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 75 0 0 71 17 19.3182 TROVE2 0 genome.wustl.edu 37 1 193050593 193050593 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 193050593 193050593 G A SNP TROVE2 ENST00000367441 human ensembl 74_37 +1 known missense c.1186 p.A396T 1.000 NULL pfam_TROVE,pfscan_TROVE - no_errors TROVE2 HGNC ENSG00000116747 48 0 0 31 10 24.3902 UBR4 0 genome.wustl.edu 37 1 19471342 19471342 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 19471342 19471342 T C SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.8005 p.T2669A 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 77 0 0 41 3 6.81818 AKR7A3 0 genome.wustl.edu 37 1 19611227 19611227 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 19611227 19611227 G A SNP AKR7A3 ENST00000361640 human ensembl 74_37 -1 known silent c.657 p.P219 0.029 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom - no_errors AKR7A3 HGNC ENSG00000162482 115 1 0.862069 54 27 33.3333 ASPM 0 genome.wustl.edu 37 1 197053460 197053460 + Silent SNP A A T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 197053460 197053460 A T SNP ASPM ENST00000367409 human ensembl 74_37 -1 known silent c.10428 p.P3476 0.765 NULL pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 45 0 0 31 3 8.82353 PTPRC 0 genome.wustl.edu 37 1 198682089 198682089 + Silent SNP A A T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 198682089 198682089 A T SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known silent c.1179 p.G393 0.000 pirsf_Leukocyte_common_ag,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 85 0 0 59 8 11.9403 ZNF281 0 genome.wustl.edu 37 1 200376939 200376939 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 200376939 200376939 C T SNP ZNF281 ENST00000294740 human ensembl 74_37 -1 known missense c.1895 p.R632Q 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF281 HGNC ENSG00000162702 69 0 0 77 11 12.5 DDX59 0 genome.wustl.edu 37 1 200628222 200628222 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 200628222 200628222 C T SNP DDX59 ENST00000331314 human ensembl 74_37 -1 known missense c.995 p.R332Q 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,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 98 0 0 97 28 22.4 C1orf106 0 genome.wustl.edu 37 1 200867455 200867455 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 200867455 200867455 C A SNP C1orf106 ENST00000367342 human ensembl 74_37 +1 known missense c.182 p.P61H 0.212 NULL pfam_DUF3338 - no_errors C1orf106 HGNC ENSG00000163362 87 0 0 75 16 17.5824 CHI3L1 0 genome.wustl.edu 37 1 203149635 203149635 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 203149635 203149635 C T SNP CHI3L1 ENST00000255409 human ensembl 74_37 -1 known missense c.857 p.R286Q 0.586 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CHI3L1 HGNC ENSG00000133048 50 0 0 50 6 10.7143 FMOD 0 genome.wustl.edu 37 1 203317092 203317092 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 203317092 203317092 C T SNP FMOD ENST00000354955 human ensembl 74_37 -1 known missense c.307 p.V103I 1.000 pfam_LRR-contain_N,smart_LRR-contain_N pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors FMOD HGNC ENSG00000122176 41 0 0 34 7 17.0732 ZC3H11A 0 genome.wustl.edu 37 1 203821387 203821387 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 203821387 203821387 C T SNP ZC3H11A ENST00000332127 human ensembl 74_37 +1 known missense c.2293 p.P765S 0.969 NULL smart_Znf_CCCH - no_errors ZC3H11A HGNC ENSG00000058673 43 0 0 49 7 12.5 PIK3C2B 0 genome.wustl.edu 37 1 204438278 204438278 + Missense_Mutation SNP C C G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 204438278 204438278 C G SNP PIK3C2B ENST00000367187 human ensembl 74_37 -1 known missense c.653 p.G218A 0.253 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 216 0 0 211 49 18.8462 NFASC 0 genome.wustl.edu 37 1 204985644 204985644 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 204985644 204985644 A G SNP NFASC ENST00000367172 human ensembl 74_37 +1 known missense c.4021 p.N1341D 1.000 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 NFASC HGNC ENSG00000163531 51 0 0 46 9 16.3636 CNTN2 0 genome.wustl.edu 37 1 205041113 205041113 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 205041113 205041113 G A SNP CNTN2 ENST00000331830 human ensembl 74_37 +1 known silent c.2583 p.A861 0.944 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 CNTN2 HGNC ENSG00000184144 45 0 0 38 8 17.3913 DSTYK 0 genome.wustl.edu 37 1 205116774 205116774 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 205116774 205116774 A G SNP DSTYK ENST00000367162 human ensembl 74_37 -1 known missense c.2702 p.I901T 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 DSTYK HGNC ENSG00000133059 145 0 0 95 22 18.8034 TMCC2 0 genome.wustl.edu 37 1 205211172 205211172 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 205211172 205211172 G T SNP TMCC2 ENST00000358024 human ensembl 74_37 +1 known missense c.747 p.K249N 1.000 NULL pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE - no_errors TMCC2 HGNC ENSG00000133069 15 0 0 21 5 19.2308 CR1 0 genome.wustl.edu 37 1 207679272 207679272 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 207679272 207679272 C T SNP CR1 ENST00000367049 human ensembl 74_37 +1 known missense c.145 p.L49F 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 111 0 0 111 26 18.9781 CR1 0 genome.wustl.edu 37 1 207787753 207787753 + Nonsense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 207787753 207787753 C T SNP CR1 ENST00000367049 human ensembl 74_37 +1 known nonsense c.6580 p.R2194* 0.477 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 46 0 0 50 5 9.09091 CR1 0 genome.wustl.edu 37 1 207787831 207787831 + Nonsense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 207787831 207787831 G T SNP CR1 ENST00000367049 human ensembl 74_37 +1 known nonsense c.6658 p.E2220* 1.000 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 64 0 0 57 5 8.06452 CR1L 0 genome.wustl.edu 37 1 207818592 207818592 + Missense_Mutation SNP T T A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 207818592 207818592 T A SNP CR1L ENST00000508064 human ensembl 74_37 +1 known missense c.14 p.V5D 0.000 NULL pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1L HGNC ENSG00000197721 36 0 0 50 4 7.40741 PLXNA2 0 genome.wustl.edu 37 1 208216416 208216416 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 208216416 208216416 C A SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known missense c.4007 p.R1336L 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 31 0 0 34 4 10.5263 KIF17 0 genome.wustl.edu 37 1 21031184 21031184 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 21031184 21031184 C T SNP KIF17 ENST00000247986 human ensembl 74_37 -1 known silent c.879 p.T293 0.248 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF17 HGNC ENSG00000117245 44 0 0 32 7 17.9487 USH2A 0 genome.wustl.edu 37 1 215812576 215812576 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 215812576 215812576 G T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.14973 p.F4991L 0.998 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 149 0 0 131 32 19.6319 USH2A 0 genome.wustl.edu 37 1 215814033 215814033 + Silent SNP A A C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 215814033 215814033 A C SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.14835 p.S4945 0.000 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 91 0 0 66 5 7.04225 USH2A 0 genome.wustl.edu 37 1 215847625 215847625 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 215847625 215847625 C A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.13628 p.R4543M 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 96 0 0 83 15 15.3061 RAB3GAP2 0 genome.wustl.edu 37 1 220363814 220363814 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 220363814 220363814 A G SNP RAB3GAP2 ENST00000358951 human ensembl 74_37 -1 known silent c.1536 p.S512 0.993 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC ENSG00000118873 115 0 0 101 23 18.5484 NVL 0 genome.wustl.edu 37 1 224424208 224424208 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 224424208 224424208 G A SNP NVL ENST00000281701 human ensembl 74_37 -1 known missense c.2366 p.T789M 0.986 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NVL HGNC ENSG00000143748 72 0 0 52 11 17.4603 EPHX1 0 genome.wustl.edu 37 1 226027630 226027630 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 226027630 226027630 A G SNP EPHX1 ENST00000272167 human ensembl 74_37 +1 known missense c.823 p.T275A 0.935 pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase pfam_Epoxide_hydro_N,pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase,prints_Epox_hydrolase-like - no_errors EPHX1 HGNC ENSG00000143819 125 0 0 109 20 15.5039 SDE2 0 genome.wustl.edu 37 1 226175749 226175749 + Nonsense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 226175749 226175749 C A SNP SDE2 ENST00000272091 human ensembl 74_37 -1 known nonsense c.982 p.E328* 0.002 NULL superfamily_Mopterin_synth/thiamin_S_b - no_errors SDE2 HGNC ENSG00000143751 93 0 0 88 13 12.8713 LIN9 0 genome.wustl.edu 37 1 226426761 226426761 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 226426761 226426761 G A SNP LIN9 ENST00000328205 human ensembl 74_37 -1 known missense c.1204 p.R402W 1.000 NULL pfam_LIN-9/ALY1 - no_errors LIN9 HGNC ENSG00000183814 78 0 0 71 13 15.4762 CDC42BPA 0 genome.wustl.edu 37 1 227239649 227239649 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 227239649 227239649 C T SNP CDC42BPA ENST00000366766 human ensembl 74_37 -1 known missense c.2942 p.S981N 0.434 NULL pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_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 - no_errors CDC42BPA HGNC ENSG00000143776 88 0 0 66 14 17.5 TAF5L 0 genome.wustl.edu 37 1 229737984 229737984 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 229737984 229737984 G A SNP TAF5L ENST00000258281 human ensembl 74_37 -1 known silent c.930 p.D310 1.000 superfamily_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 55 0 0 59 7 10.6061 SPRTN 0 genome.wustl.edu 37 1 231488454 231488454 + Missense_Mutation SNP A A T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 231488454 231488454 A T SNP SPRTN ENST00000295050 human ensembl 74_37 +1 known missense c.817 p.I273F 0.000 NULL pfam_SprT-like_domain,smart_SprT-like_domain,smart_Znf_Rad18_put - no_errors SPRTN HGNC ENSG00000010072 70 0 0 61 9 12.8571 PCNXL2 0 genome.wustl.edu 37 1 233120166 233120166 + Nonsense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 233120166 233120166 G A SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known nonsense c.6298 p.R2100* 0.000 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 49 0 0 42 14 25 HEATR1 0 genome.wustl.edu 37 1 236740226 236740226 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 236740226 236740226 G T SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known missense c.2779 p.L927M 0.832 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 82 0 0 79 6 7.05882 ACTN2 0 genome.wustl.edu 37 1 236925910 236925910 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 236925910 236925910 C T SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known silent c.2676 p.S892 0.265 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN2 HGNC ENSG00000077522 26 0 0 13 3 18.75 RYR2 0 genome.wustl.edu 37 1 237732550 237732550 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 237732550 237732550 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known silent c.3523 p.L1175 0.995 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 36 0 0 24 9 27.2727 RYR2 0 genome.wustl.edu 37 1 237791158 237791158 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 237791158 237791158 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.6212 p.S2071F 0.997 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 21 0 0 31 11 26.1905 MAP1LC3C 0 genome.wustl.edu 37 1 242159681 242159681 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 242159681 242159681 G A SNP MAP1LC3C ENST00000357246 human ensembl 74_37 -1 known silent c.228 p.R76 1.000 pfam_Atg8_fam,pfam_Atg12 pfam_Atg8_fam,pfam_Atg12 - no_errors MAP1LC3C HGNC ENSG00000197769 59 0 0 53 7 11.6667 CEP170 0 genome.wustl.edu 37 1 243303325 243303325 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 243303325 243303325 C T SNP CEP170 ENST00000366542 human ensembl 74_37 -1 known missense c.4144 p.G1382S 0.998 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170 HGNC ENSG00000143702 58 0 0 37 8 17.7778 ZNF496 0 genome.wustl.edu 37 1 247464263 247464263 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 247464263 247464263 C T SNP ZNF496 ENST00000366498 human ensembl 74_37 -1 known missense c.1430 p.G477E 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_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF496 HGNC ENSG00000162714 60 0 0 44 13 22.807 OR2G2 0 genome.wustl.edu 37 1 247751877 247751877 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 247751877 247751877 G A SNP OR2G2 ENST00000320065 human ensembl 74_37 +1 known silent c.216 p.L72 0.245 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G2 HGNC ENSG00000177489 116 0 0 99 19 16.1017 OR2G3 0 genome.wustl.edu 37 1 247769166 247769166 + Silent SNP T T G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 247769166 247769166 T G SNP OR2G3 ENST00000320002 human ensembl 74_37 +1 known silent c.279 p.T93 0.008 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 OR2G3 HGNC ENSG00000177476 238 0 0 204 47 18.7251 OR2M5 0 genome.wustl.edu 37 1 248308964 248308964 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 248308964 248308964 G A SNP OR2M5 ENST00000366476 human ensembl 74_37 +1 known missense c.515 p.R172Q 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 OR2M5 HGNC ENSG00000162727 288 0 0 236 47 16.6078 C1orf63 0 genome.wustl.edu 37 1 25569052 25569052 + RNA SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 25569052 25569052 T C SNP C1orf63 ENST00000475766 human ensembl 74_37 -1 known rna NULL NULL 0.077 - - - no_errors C1orf63 HGNC ENSG00000117616 52 0 0 33 10 23.2558 CNKSR1 0 genome.wustl.edu 37 1 26506988 26506988 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 26506988 26506988 C T SNP CNKSR1 ENST00000374253 human ensembl 74_37 +1 known silent c.97 p.L33 1.000 pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR1 HGNC ENSG00000142675 62 0 0 42 3 6.66667 NUDC 0 genome.wustl.edu 37 1 27269258 27269258 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 27269258 27269258 G A SNP NUDC ENST00000321265 human ensembl 74_37 +1 known silent c.537 p.S179 0.862 pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors NUDC HGNC ENSG00000090273 40 0 0 19 15 44.1176 HCRTR1 0 genome.wustl.edu 37 1 32086581 32086581 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 32086581 32086581 G A SNP HCRTR1 ENST00000373706 human ensembl 74_37 +1 known silent c.516 p.S172 0.122 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_1,prints_NPY_rcpt - no_errors HCRTR1 HGNC ENSG00000121764 25 0 0 11 6 35.2941 COL16A1 0 genome.wustl.edu 37 1 32150143 32150143 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 32150143 32150143 G A SNP COL16A1 ENST00000271069 human ensembl 74_37 -1 known missense c.2138 p.A713V 0.000 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL16A1 HGNC ENSG00000084636 53 0 0 40 16 28.5714 LCK 0 genome.wustl.edu 37 1 32745576 32745576 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 32745576 32745576 C T SNP LCK ENST00000333070 human ensembl 74_37 +1 known silent c.1266 p.N422 0.028 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors LCK HGNC ENSG00000182866 51 0 0 26 13 33.3333 PRDM16 0 genome.wustl.edu 37 1 3342751 3342751 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 3342751 3342751 T C SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known silent c.3246 p.N1082 1.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 111 0 0 65 21 24.4186 CSMD2 0 genome.wustl.edu 37 1 34180274 34180274 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 34180274 34180274 G A SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.3319 p.P1107S 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 73 0 0 59 24 28.9157 AGO1 0 genome.wustl.edu 37 1 36354182 36354182 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 36354182 36354182 G T SNP AGO1 ENST00000373204 human ensembl 74_37 +1 known missense c.180 p.K60N 1.000 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 AGO1 HGNC ENSG00000092847 93 0 0 48 13 21.3115 LSM10 0 genome.wustl.edu 37 1 36859607 36859607 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 36859607 36859607 G A SNP LSM10 ENST00000315732 human ensembl 74_37 -1 known missense c.124 p.R42C 1.000 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors LSM10 HGNC ENSG00000181817 77 0 0 31 14 31.1111 CEP104 0 genome.wustl.edu 37 1 3755627 3755627 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 3755627 3755627 T C SNP CEP104 ENST00000378230 human ensembl 74_37 -1 known silent c.792 p.E264 0.973 NULL superfamily_Galactose-bd-like,superfamily_ARM-type_fold - no_errors CEP104 HGNC ENSG00000116198 114 0 0 57 20 25.974 MACF1 0 genome.wustl.edu 37 1 39900152 39900152 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 39900152 39900152 C T SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.11446 p.R3816C 1.000 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 84 0 0 43 16 27.1186 SLC6A9 0 genome.wustl.edu 37 1 44474178 44474178 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 44474178 44474178 T C SNP SLC6A9 ENST00000360584 human ensembl 74_37 -1 known missense c.656 p.Y219C 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 61 0 0 41 14 25.4545 ZSWIM5 0 genome.wustl.edu 37 1 45553698 45553698 + Silent SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 45553698 45553698 G T SNP ZSWIM5 ENST00000359600 human ensembl 74_37 -1 known silent c.807 p.S269 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM5 HGNC ENSG00000162415 168 0 0 79 24 23.301 MKNK1 0 genome.wustl.edu 37 1 47046273 47046273 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 47046273 47046273 G A SNP MKNK1 ENST00000371946 human ensembl 74_37 -1 known missense c.163 p.L55F 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 MKNK1 HGNC ENSG00000079277 39 0 0 18 7 28 BTF3L4 0 genome.wustl.edu 37 1 52551842 52551842 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 52551842 52551842 A G SNP BTF3L4 ENST00000489308 human ensembl 74_37 +1 novel missense c.227 p.Q76R 1.000 NULL NULL - no_errors BTF3L4 HGNC ENSG00000134717 39 0 0 16 15 48.3871 TCEANC2 0 genome.wustl.edu 37 1 54554360 54554360 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 54554360 54554360 A G SNP TCEANC2 ENST00000371331 human ensembl 74_37 +1 known missense c.425 p.E142G 1.000 superfamily_TFIIS_N,superfamily_TFIIS_cen_dom,smart_TFIIS/CRSP70_N_sub pfam_TFIIS_N,superfamily_TFIIS_N,superfamily_TFIIS_cen_dom,smart_TFIIS/CRSP70_N_sub - no_errors TCEANC2 HGNC ENSG00000116205 34 0 0 21 5 19.2308 C8A 0 genome.wustl.edu 37 1 57347128 57347128 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 57347128 57347128 C A SNP C8A ENST00000361249 human ensembl 74_37 +1 known missense c.475 p.L159M 1.000 NULL 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,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C8A HGNC ENSG00000157131 90 0 0 51 13 20.3125 DNAJC6 0 genome.wustl.edu 37 1 65830386 65830386 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 65830386 65830386 G T SNP DNAJC6 ENST00000371069 human ensembl 74_37 +1 known missense c.262 p.G88W 1.000 NULL 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 111 0 0 54 24 30.7692 RERE 0 genome.wustl.edu 37 1 8421436 8421436 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 8421436 8421436 T C SNP RERE ENST00000337907 human ensembl 74_37 -1 known missense c.2131 p.T711A 1.000 pfam_Atrophin-like pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 52 0 0 37 4 9.7561 PRKACB 0 genome.wustl.edu 37 1 84679841 84679841 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 84679841 84679841 A G SNP PRKACB ENST00000370685 human ensembl 74_37 +1 known silent c.912 p.R304 0.984 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,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACB HGNC ENSG00000142875 32 0 0 20 3 13.0435 COL24A1 0 genome.wustl.edu 37 1 86590960 86590960 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 86590960 86590960 A G SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known silent c.1059 p.T353 0.066 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 97 0 0 41 15 26.7857 LRRC8B 0 genome.wustl.edu 37 1 90049770 90049770 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 90049770 90049770 G A SNP LRRC8B ENST00000330947 human ensembl 74_37 +1 known missense c.1561 p.V521I 0.959 smart_Leu-rich_rpt_typical-subtyp pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8B HGNC ENSG00000197147 92 0 0 44 22 33.3333 ZNF326 0 genome.wustl.edu 37 1 90473078 90473078 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 90473078 90473078 C T SNP ZNF326 ENST00000340281 human ensembl 74_37 +1 known silent c.384 p.G128 1.000 NULL pfam_AKAP95 - no_errors ZNF326 HGNC ENSG00000162664 132 1 0.75188 84 27 24.3243 BTBD8 0 genome.wustl.edu 37 1 92568094 92568094 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 92568094 92568094 A G SNP BTBD8 ENST00000342818 human ensembl 74_37 +1 known missense c.412 p.M138V 0.000 smart_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors BTBD8 HGNC ENSG00000189195 43 0 0 15 14 48.2759 CCDC18 0 genome.wustl.edu 37 1 93698101 93698101 + Missense_Mutation SNP C C G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 93698101 93698101 C G SNP CCDC18 ENST00000557479 human ensembl 74_37 +1 known missense c.2765 p.T922R 0.998 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 123 0 0 70 25 26.3158 PTBP2 0 genome.wustl.edu 37 1 97243163 97243163 + Missense_Mutation SNP C C G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 97243163 97243163 C G SNP PTBP2 ENST00000394184 human ensembl 74_37 +1 known missense c.488 p.A163G 1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP2 HGNC ENSG00000117569 48 0 0 23 11 32.3529 HPS1 0 genome.wustl.edu 37 10 100182223 100182223 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 100182223 100182223 C T SNP HPS1 ENST00000325103 human ensembl 74_37 -1 known missense c.1646 p.R549H 1.000 NULL NULL - no_errors HPS1 HGNC ENSG00000107521 111 0 0 60 15 20 ABCC2 0 genome.wustl.edu 37 10 101553677 101553677 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 101553677 101553677 G A SNP ABCC2 ENST00000370449 human ensembl 74_37 +1 known missense c.497 p.C166Y 1.000 tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC2 HGNC ENSG00000023839 77 0 0 37 10 21.2766 FAM178A 0 genome.wustl.edu 37 10 102710474 102710474 + Missense_Mutation SNP A A C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 102710474 102710474 A C SNP FAM178A ENST00000370269 human ensembl 74_37 +1 known missense c.3294 p.E1098D 1.000 NULL NULL - no_errors FAM178A HGNC ENSG00000119906 38 0 0 14 5 26.3158 BTRC 0 genome.wustl.edu 37 10 103292822 103292822 + Silent SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 103292822 103292822 G T SNP BTRC ENST00000370187 human ensembl 74_37 +1 known silent c.1092 p.T364 0.067 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_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 123 1 0.806452 59 14 19.1781 BTRC 0 genome.wustl.edu 37 10 103295163 103295163 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 103295163 103295163 G A SNP BTRC ENST00000370187 human ensembl 74_37 +1 known missense c.1400 p.R467Q 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 62 0 0 39 11 22 PSD 0 genome.wustl.edu 37 10 104173805 104173805 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 104173805 104173805 G A SNP PSD ENST00000020673 human ensembl 74_37 -1 known missense c.1274 p.S425L 0.999 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 68 0 0 27 12 30.7692 COL17A1 0 genome.wustl.edu 37 10 105793033 105793033 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 105793033 105793033 G A SNP COL17A1 ENST00000353479 human ensembl 74_37 -1 known silent c.4257 p.Y1419 1.000 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 13 0 0 7 4 36.3636 COL17A1 0 genome.wustl.edu 37 10 105798255 105798255 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 105798255 105798255 G A SNP COL17A1 ENST00000353479 human ensembl 74_37 -1 known silent c.2979 p.G993 0.813 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 93 0 0 47 26 35.6164 SMC3 0 genome.wustl.edu 37 10 112343281 112343281 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 112343281 112343281 A G SNP SMC3 ENST00000361804 human ensembl 74_37 +1 known missense c.944 p.E315G 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC3 HGNC ENSG00000108055 82 0 0 47 11 18.9655 EMX2 0 genome.wustl.edu 37 10 119305240 119305240 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 119305240 119305240 G A SNP EMX2 ENST00000553456 human ensembl 74_37 +1 known silent c.504 p.R168 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,prints_HTH_motif - no_errors EMX2 HGNC ENSG00000170370 30 0 0 14 12 46.1538 TIAL1 0 genome.wustl.edu 37 10 121339499 121339499 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 121339499 121339499 A G SNP TIAL1 ENST00000369093 human ensembl 74_37 -1 known missense c.446 p.M149T 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors TIAL1 HGNC ENSG00000151923 53 0 0 22 8 26.6667 TACC2 0 genome.wustl.edu 37 10 123892188 123892188 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 123892188 123892188 G A SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known missense c.5638 p.A1880T 0.020 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 47 0 0 23 11 32.3529 DMBT1 0 genome.wustl.edu 37 10 124391375 124391375 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 124391375 124391375 C T SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known silent c.5964 p.N1988 0.000 superfamily_Srcr_rcpt-rel pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 53 0 0 30 7 18.9189 FAM24A 0 genome.wustl.edu 37 10 124671216 124671216 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 124671216 124671216 C T SNP FAM24A ENST00000368894 human ensembl 74_37 +1 known silent c.66 p.A22 0.000 NULL NULL - no_errors FAM24A HGNC ENSG00000203795 356 0 0 188 60 24.1935 BUB3 0 genome.wustl.edu 37 10 124917344 124917344 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 124917344 124917344 T C SNP BUB3 ENST00000368865 human ensembl 74_37 +1 known missense c.365 p.L122P 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,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors BUB3 HGNC ENSG00000154473 63 0 0 32 17 34.6939 C10orf137 0 genome.wustl.edu 37 10 127412448 127412448 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 127412448 127412448 A G SNP C10orf137 ENST00000356792 human ensembl 74_37 +1 known silent c.453 p.G151 0.666 NULL NULL - no_errors C10orf137 HGNC ENSG00000107938 199 0 0 124 7 5.34351 DOCK1 0 genome.wustl.edu 37 10 128795065 128795065 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 128795065 128795065 C A SNP DOCK1 ENST00000280333 human ensembl 74_37 +1 known missense c.527 p.P176Q 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 160 0 0 79 31 28.1818 PAOX 0 genome.wustl.edu 37 10 135195102 135195102 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 135195102 135195102 G A SNP PAOX ENST00000278060 human ensembl 74_37 +1 known silent c.807 p.S269 0.010 pfam_Amino_oxidase pfam_Amino_oxidase - no_errors PAOX HGNC ENSG00000148832 38 0 0 28 14 33.3333 PAOX 0 genome.wustl.edu 37 10 135195153 135195153 + Silent SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 135195153 135195153 C A SNP PAOX ENST00000278060 human ensembl 74_37 +1 known silent c.858 p.T286 0.061 pfam_Amino_oxidase pfam_Amino_oxidase - no_errors PAOX HGNC ENSG00000148832 40 0 0 20 11 35.4839 FAM171A1 0 genome.wustl.edu 37 10 15290697 15290697 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 15290697 15290697 G A SNP FAM171A1 ENST00000378116 human ensembl 74_37 -1 known missense c.695 p.T232M 0.974 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 52 0 0 31 7 18.4211 CUBN 0 genome.wustl.edu 37 10 16932369 16932369 + Splice_Site SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 16932369 16932369 C T SNP CUBN ENST00000377833 human ensembl 74_37 -1 known splice_site c.8755+1 e55+1 1.000 - - - no_errors CUBN HGNC ENSG00000107611 50 0 0 33 8 19.5122 STAM 0 genome.wustl.edu 37 10 17747022 17747022 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 17747022 17747022 A G SNP STAM ENST00000377524 human ensembl 74_37 +1 known missense c.1054 p.R352G 1.000 NULL pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox - no_errors STAM HGNC ENSG00000136738 64 0 0 30 11 26.8293 KIAA1462 0 genome.wustl.edu 37 10 30336525 30336525 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 30336525 30336525 G A SNP KIAA1462 ENST00000375377 human ensembl 74_37 -1 known missense c.217 p.R73C 0.001 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 35 0 0 13 7 35 MAP3K8 0 genome.wustl.edu 37 10 30748255 30748255 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 30748255 30748255 A G SNP MAP3K8 ENST00000263056 human ensembl 74_37 +1 known silent c.1098 p.E366 0.910 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K8 HGNC ENSG00000107968 62 0 0 36 15 29.4118 PITRM1 0 genome.wustl.edu 37 10 3180476 3180476 + Nonsense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 3180476 3180476 C A SNP PITRM1 ENST00000380989 human ensembl 74_37 -1 known nonsense c.2974 p.E992* 1.000 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 32 0 0 16 6 27.2727 ARHGAP12 0 genome.wustl.edu 37 10 32097965 32097965 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 32097965 32097965 A G SNP ARHGAP12 ENST00000344936 human ensembl 74_37 -1 known silent c.2220 p.P740 0.986 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_SH3_domain,smart_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP12 HGNC ENSG00000165322 33 0 0 19 8 29.6296 PARD3 0 genome.wustl.edu 37 10 34558704 34558704 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 34558704 34558704 A G SNP PARD3 ENST00000374789 human ensembl 74_37 -1 known silent c.3309 p.S1103 0.468 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 52 0 0 23 11 32.3529 RASGEF1A 0 genome.wustl.edu 37 10 43696165 43696165 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 43696165 43696165 C T SNP RASGEF1A ENST00000395809 human ensembl 74_37 -1 known missense c.631 p.V211M 1.000 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1A HGNC ENSG00000198915 27 0 0 3 5 62.5 RASSF4 0 genome.wustl.edu 37 10 45488730 45488730 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 45488730 45488730 C T SNP RASSF4 ENST00000334940 human ensembl 74_37 +1 known missense c.946 p.R316C 1.000 pfscan_SARAH_dom pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom - no_errors RASSF4 HGNC ENSG00000107551 22 0 0 13 6 31.5789 FAM21C 0 genome.wustl.edu 37 10 46248126 46248126 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 46248126 46248126 A G SNP FAM21C ENST00000374362 human ensembl 74_37 +1 known missense c.1094 p.K365R 1.000 NULL NULL - no_errors FAM21C HGNC ENSG00000172661 158 1 0.628931 72 32 30.7692 NET1 0 genome.wustl.edu 37 10 5498109 5498109 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 5498109 5498109 C T SNP NET1 ENST00000355029 human ensembl 74_37 +1 known silent c.1257 p.N419 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors NET1 HGNC ENSG00000173848 85 0 0 32 8 20 ANK3 0 genome.wustl.edu 37 10 61868760 61868760 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 61868760 61868760 G A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.3001 p.R1001C 1.000 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 ANK3 HGNC ENSG00000151150 41 0 0 29 7 19.4444 TET1 0 genome.wustl.edu 37 10 70450958 70450958 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 70450958 70450958 C T SNP TET1 ENST00000373644 human ensembl 74_37 +1 known missense c.5798 p.P1933L 0.543 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 76 0 0 51 16 23.8806 CDH23 0 genome.wustl.edu 37 10 73544820 73544820 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 73544820 73544820 C T SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.5690 p.A1897V 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 47 0 0 20 8 28.5714 DNAJB12 0 genome.wustl.edu 37 10 74114622 74114622 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 74114622 74114622 T C SNP DNAJB12 ENST00000338820 human ensembl 74_37 -1 known missense c.136 p.I46V 1.000 NULL pfam_DUF1977_DnaJ-like,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB12 HGNC ENSG00000148719 18 0 0 11 4 26.6667 ECD 0 genome.wustl.edu 37 10 74894376 74894376 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 74894376 74894376 C T SNP ECD ENST00000430082 human ensembl 74_37 -1 known missense c.1999 p.D667N 0.998 NULL pfam_SGT1 - no_errors ECD HGNC ENSG00000122882 52 0 0 23 3 11.5385 AGAP5 0 genome.wustl.edu 37 10 75456870 75456870 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 75456870 75456870 C A SNP AGAP5 ENST00000374094 human ensembl 74_37 -1 known missense c.275 p.R92M 0.975 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP5 HGNC ENSG00000172650 63 0 0 28 12 30 SEC24C 0 genome.wustl.edu 37 10 75523277 75523277 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 75523277 75523277 C A SNP SEC24C ENST00000339365 human ensembl 74_37 +1 known missense c.1017 p.N339K 1.000 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24C HGNC ENSG00000176986 59 0 0 39 12 23.5294 KCNMA1 0 genome.wustl.edu 37 10 78799284 78799284 + Splice_Site SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 78799284 78799284 A G SNP KCNMA1 ENST00000406533 human ensembl 74_37 -1 known splice_site c.1859+2 e15+2 1.000 - - - no_errors KCNMA1 HGNC ENSG00000156113 60 0 0 31 6 16.2162 TAF3 0 genome.wustl.edu 37 10 8006409 8006409 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 8006409 8006409 T C SNP TAF3 ENST00000344293 human ensembl 74_37 +1 known silent c.936 p.P312 0.998 NULL pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors TAF3 HGNC ENSG00000165632 81 0 0 40 20 33.3333 ZMIZ1 0 genome.wustl.edu 37 10 81053157 81053157 + Missense_Mutation SNP A A C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 81053157 81053157 A C SNP ZMIZ1 ENST00000334512 human ensembl 74_37 +1 known missense c.977 p.Y326S 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ1 HGNC ENSG00000108175 122 0 0 84 21 20 KIF11 0 genome.wustl.edu 37 10 94392365 94392365 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 94392365 94392365 T C SNP KIF11 ENST00000260731 human ensembl 74_37 +1 known silent c.1617 p.N539 0.844 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF11 HGNC ENSG00000138160 88 0 0 46 3 6.12245 EXOC6 0 genome.wustl.edu 37 10 94733809 94733809 + Splice_Site SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 94733809 94733809 G T SNP EXOC6 ENST00000371547 human ensembl 74_37 +1 known splice_site c.1822-1 e19-1 1.000 - - - no_errors EXOC6 HGNC ENSG00000138190 46 0 0 16 12 42.8571 MYOF 0 genome.wustl.edu 37 10 95079681 95079681 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 95079681 95079681 A G SNP MYOF ENST00000359263 human ensembl 74_37 -1 known missense c.5546 p.V1849A 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors MYOF HGNC ENSG00000138119 72 0 0 41 12 22.6415 OPALIN 0 genome.wustl.edu 37 10 98105764 98105764 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 98105764 98105764 A G SNP OPALIN ENST00000371172 human ensembl 74_37 -1 known silent c.360 p.R120 0.002 NULL NULL - no_errors OPALIN HGNC ENSG00000197430 144 0 0 61 15 19.7368 PIK3AP1 0 genome.wustl.edu 37 10 98408509 98408509 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 98408509 98408509 C T SNP PIK3AP1 ENST00000339364 human ensembl 74_37 -1 known silent c.1092 p.A364 0.060 superfamily_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom - no_errors PIK3AP1 HGNC ENSG00000155629 36 0 0 22 6 21.4286 BIRC2 0 genome.wustl.edu 37 11 102220626 102220626 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 102220626 102220626 C T SNP BIRC2 ENST00000227758 human ensembl 74_37 +1 known missense c.41 p.S14L 0.000 NULL pfam_BIR,pfam_CARD,superfamily_DEATH-like_dom,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC2 HGNC ENSG00000110330 80 0 0 66 15 18.5185 MMP12 0 genome.wustl.edu 37 11 102742328 102742328 + RNA SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 102742328 102742328 T C SNP MMP12 ENST00000326227 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MMP12 HGNC ENSG00000110347 9 0 0 3 2 40 DDI1 0 genome.wustl.edu 37 11 103907911 103907911 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 103907911 103907911 G A SNP DDI1 ENST00000302259 human ensembl 74_37 +1 known missense c.361 p.A121T 0.000 NULL pfam_Peptidase_aspartic_DDI1-type,pfam_Ubiquitin_dom,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors DDI1 HGNC ENSG00000170967 44 0 0 21 15 41.6667 KBTBD3 0 genome.wustl.edu 37 11 105924490 105924490 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 105924490 105924490 T C SNP KBTBD3 ENST00000526793 human ensembl 74_37 -1 known missense c.926 p.Q309R 1.000 pirsf_Kelch-like_gigaxonin pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD3 HGNC ENSG00000182359 78 0 0 42 19 31.1475 CUL5 0 genome.wustl.edu 37 11 107925673 107925673 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 107925673 107925673 C T SNP CUL5 ENST00000393094 human ensembl 74_37 +1 known silent c.771 p.S257 0.997 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 35 0 0 22 11 33.3333 ATM 0 genome.wustl.edu 37 11 108117798 108117798 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 108117798 108117798 C T SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.1009 p.R337C 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 49 0 0 36 9 20 LAYN 0 genome.wustl.edu 37 11 111414815 111414815 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 111414815 111414815 T C SNP LAYN ENST00000375615 human ensembl 74_37 +1 known missense c.277 p.F93L 0.985 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 LAYN HGNC ENSG00000204381 37 0 0 36 6 14.2857 HTR3B 0 genome.wustl.edu 37 11 113802574 113802574 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 113802574 113802574 T C SNP HTR3B ENST00000260191 human ensembl 74_37 +1 known missense c.353 p.I118T 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_5HT3_rcpt_B,prints_5HT3_rcpt,prints_Neur_channel,prints_5HT3_rcpt_A,tigrfam_Neur_channel - no_errors HTR3B HGNC ENSG00000149305 80 0 0 54 41 43.1579 NXPE4 0 genome.wustl.edu 37 11 114453246 114453246 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 114453246 114453246 G A SNP NXPE4 ENST00000375478 human ensembl 74_37 -1 known silent c.594 p.G198 0.999 pfam_NXPH/NXPE pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE4 HGNC ENSG00000137634 70 0 0 42 8 16 TAGLN 0 genome.wustl.edu 37 11 117073731 117073731 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 117073731 117073731 T C SNP TAGLN ENST00000392951 human ensembl 74_37 +1 known missense c.2 p.M1T 1.000 NULL pfam_CH-domain,pfam_Calponin_repeat,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin - no_errors TAGLN HGNC ENSG00000149591 34 0 0 22 11 33.3333 TTC36 0 genome.wustl.edu 37 11 118399499 118399499 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 118399499 118399499 C T SNP TTC36 ENST00000302783 human ensembl 74_37 +1 known silent c.300 p.D100 0.927 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC36 HGNC ENSG00000172425 20 0 0 17 7 29.1667 TREH 0 genome.wustl.edu 37 11 118533631 118533631 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 118533631 118533631 C T SNP TREH ENST00000264029 human ensembl 74_37 -1 known missense c.382 p.A128T 1.000 pfam_Glyco_hydro_37 pfam_Glyco_hydro_37,superfamily_6-hairpin_glycosidase-like,prints_Glyco_hydro_37 - no_errors TREH HGNC ENSG00000118094 18 0 0 3 7 70 C2CD2L 0 genome.wustl.edu 37 11 118982005 118982005 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 118982005 118982005 G T SNP C2CD2L ENST00000336702 human ensembl 74_37 +1 known missense c.831 p.Q277H 0.008 superfamily_C2_dom superfamily_C2_dom - no_errors C2CD2L HGNC ENSG00000172375 188 0 0 157 29 15.5914 OAF 0 genome.wustl.edu 37 11 120096472 120096472 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 120096472 120096472 A G SNP OAF ENST00000328965 human ensembl 74_37 +1 known missense c.334 p.I112V 1.000 NULL NULL - no_errors OAF HGNC ENSG00000184232 116 0 0 67 39 36.7925 GRIK4 0 genome.wustl.edu 37 11 120690602 120690602 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 120690602 120690602 G A SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known missense c.484 p.A162T 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 GRIK4 HGNC ENSG00000149403 173 0 0 90 67 42.6752 BLID 0 genome.wustl.edu 37 11 121986495 121986495 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 121986495 121986495 G A SNP BLID ENST00000560104 human ensembl 74_37 -1 known missense c.136 p.P46S 0.004 NULL NULL - no_errors BLID HGNC ENSG00000259571 129 0 0 71 4 5.33333 UBASH3B 0 genome.wustl.edu 37 11 122659945 122659945 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 122659945 122659945 C T SNP UBASH3B ENST00000284273 human ensembl 74_37 +1 known silent c.909 p.T303 0.000 pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain 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 150 0 0 84 55 39.5683 HSPA8 0 genome.wustl.edu 37 11 122928610 122928610 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 122928610 122928610 T C SNP HSPA8 ENST00000534624 human ensembl 74_37 -1 known silent c.1773 p.E591 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA8 HGNC ENSG00000109971 83 0 0 65 18 21.6867 OR10G8 0 genome.wustl.edu 37 11 123900482 123900482 + Silent SNP T T A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 123900482 123900482 T A SNP OR10G8 ENST00000431524 human ensembl 74_37 +1 known silent c.153 p.S51 0.016 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G8 HGNC ENSG00000234560 146 0 0 78 14 15.2174 OR8B12 0 genome.wustl.edu 37 11 124413190 124413190 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 124413190 124413190 G A SNP OR8B12 ENST00000306842 human ensembl 74_37 -1 known missense c.361 p.R121C 1.000 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 OR8B12 HGNC ENSG00000170953 99 0 0 44 55 55.5556 MUC5B 0 genome.wustl.edu 37 11 1250474 1250474 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 1250474 1250474 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.1051 p.R351C 0.000 pfam_TIL_dom,superfamily_TIL_dom 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 8 0 0 5 4 44.4444 NFRKB 0 genome.wustl.edu 37 11 129754692 129754692 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 129754692 129754692 C T SNP NFRKB ENST00000524794 human ensembl 74_37 -1 known silent c.765 p.A255 1.000 NULL NULL - no_errors NFRKB HGNC ENSG00000170322 37 0 0 28 9 24.3243 BTBD10 0 genome.wustl.edu 37 11 13435077 13435077 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 13435077 13435077 T C SNP BTBD10 ENST00000278174 human ensembl 74_37 -1 known missense c.808 p.S270G 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors BTBD10 HGNC ENSG00000148925 62 0 0 30 23 43.3962 FAR1 0 genome.wustl.edu 37 11 13729476 13729476 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 13729476 13729476 C T SNP FAR1 ENST00000354817 human ensembl 74_37 +1 known missense c.395 p.T132M 1.000 pfam_Male_sterile_NAD-bd,pfam_Epimerase_deHydtase pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase - no_errors FAR1 HGNC ENSG00000197601 54 0 0 24 14 36.8421 SERGEF 0 genome.wustl.edu 37 11 18028253 18028253 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 18028253 18028253 C T SNP SERGEF ENST00000265965 human ensembl 74_37 -1 known silent c.237 p.G79 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,prints_Reg_chr_condens,pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,prints_Reg_chr_condens,pfscan_Reg_chr_condens - no_errors SERGEF HGNC ENSG00000129158 175 0 0 138 15 9.80392 NAV2 0 genome.wustl.edu 37 11 19970272 19970272 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 19970272 19970272 C T SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.2360 p.T787M 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 55 0 0 50 10 16.6667 HTATIP2 0 genome.wustl.edu 37 11 20385903 20385903 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 20385903 20385903 G A SNP HTATIP2 ENST00000419348 human ensembl 74_37 +1 known silent c.222 p.E74 0.039 pfam_Semialdehyde_DH_NAD-bd pfam_Semialdehyde_DH_NAD-bd - no_errors HTATIP2 HGNC ENSG00000109854 73 0 0 40 11 21.5686 FBXO3 0 genome.wustl.edu 37 11 33772171 33772171 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 33772171 33772171 C T SNP FBXO3 ENST00000265651 human ensembl 74_37 -1 known silent c.846 p.G282 1.000 superfamily_ApaG_domain,pfscan_ApaG_domain pfam_ApaG_domain,pfam_F-box_dom,superfamily_ApaG_domain,superfamily_F-box_dom,smart_F-box_dom,smart_SMI1/KNR4_like_dom,pfscan_ApaG_domain,pfscan_F-box_dom - no_errors FBXO3 HGNC ENSG00000110429 62 0 0 20 16 44.4444 RAG1 0 genome.wustl.edu 37 11 36595732 36595732 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 36595732 36595732 G A SNP RAG1 ENST00000299440 human ensembl 74_37 +1 known missense c.878 p.C293Y 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING - no_errors RAG1 HGNC ENSG00000166349 83 0 0 43 32 42.6667 NUP98 0 genome.wustl.edu 37 11 3721906 3721906 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 3721906 3721906 C T SNP NUP98 ENST00000324932 human ensembl 74_37 -1 known missense c.3676 p.V1226I 1.000 NULL pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC ENSG00000110713 60 0 0 43 12 21.8182 API5 0 genome.wustl.edu 37 11 43356827 43356827 + Splice_Site SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 43356827 43356827 G T SNP API5 ENST00000531273 human ensembl 74_37 +1 known splice_site c.1279-1 e12-1 1.000 - - - no_errors API5 HGNC ENSG00000166181 66 0 0 33 24 42.1053 ALX4 0 genome.wustl.edu 37 11 44289061 44289061 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 44289061 44289061 C T SNP ALX4 ENST00000329255 human ensembl 74_37 -1 known missense c.889 p.A297T 0.999 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors ALX4 HGNC ENSG00000052850 50 0 0 38 6 13.6364 ALX4 0 genome.wustl.edu 37 11 44297062 44297062 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 44297062 44297062 C T SNP ALX4 ENST00000329255 human ensembl 74_37 -1 known missense c.613 p.A205T 0.984 superfamily_Homeodomain-like pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors ALX4 HGNC ENSG00000052850 136 0 0 87 30 25.641 ZNF408 0 genome.wustl.edu 37 11 46727164 46727164 + Silent SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 46727164 46727164 C A SNP ZNF408 ENST00000311764 human ensembl 74_37 +1 known silent c.1914 p.P638 0.007 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF408 HGNC ENSG00000175213 31 0 0 18 11 37.931 ACP2 0 genome.wustl.edu 37 11 47264672 47264672 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 47264672 47264672 C T SNP ACP2 ENST00000256997 human ensembl 74_37 -1 known missense c.859 p.D287N 1.000 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACP2 HGNC ENSG00000134575 55 0 0 38 28 42.4242 MADD 0 genome.wustl.edu 37 11 47307054 47307054 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 47307054 47307054 G A SNP MADD ENST00000311027 human ensembl 74_37 +1 known missense c.2464 p.A822T 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 151 0 0 102 35 25.5474 KBTBD4 0 genome.wustl.edu 37 11 47599015 47599015 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 47599015 47599015 A G SNP KBTBD4 ENST00000430070 human ensembl 74_37 -1 known silent c.585 p.N195 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 KBTBD4 HGNC ENSG00000123444 79 0 0 70 20 22.2222 FNBP4 0 genome.wustl.edu 37 11 47744591 47744591 + Silent SNP A A T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 47744591 47744591 A T SNP FNBP4 ENST00000263773 human ensembl 74_37 -1 known silent c.2742 p.P914 0.174 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors FNBP4 HGNC ENSG00000109920 15 0 0 8 5 38.4615 NUP160 0 genome.wustl.edu 37 11 47859139 47859139 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 47859139 47859139 A G SNP NUP160 ENST00000378460 human ensembl 74_37 -1 known missense c.785 p.V262A 1.000 pfam_Nucleoporin_Nup160 pfam_Nucleoporin_Nup160 - no_errors NUP160 HGNC ENSG00000030066 112 0 0 80 18 18.3673 PTPRJ 0 genome.wustl.edu 37 11 48161113 48161113 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 48161113 48161113 C A SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known missense c.2228 p.P743H 0.978 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 44 0 0 30 8 21.0526 OR4S1 0 genome.wustl.edu 37 11 48327840 48327840 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 48327840 48327840 G A SNP OR4S1 ENST00000319988 human ensembl 74_37 +1 known silent c.66 p.Q22 0.687 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4S1 HGNC ENSG00000176555 226 0 0 154 40 20.6186 OR52J3 0 genome.wustl.edu 37 11 5068158 5068158 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 5068158 5068158 G A SNP OR52J3 ENST00000380370 human ensembl 74_37 +1 known missense c.403 p.A135T 0.095 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 OR52J3 HGNC ENSG00000205495 51 0 0 35 12 25.5319 OR4C46 0 genome.wustl.edu 37 11 51515845 51515845 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 51515845 51515845 T C SNP OR4C46 ENST00000328188 human ensembl 74_37 +1 known silent c.564 p.T188 0.975 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 OR4C46 HGNC ENSG00000185926 117 0 0 48 34 41.4634 OR51B2 0 genome.wustl.edu 37 11 5344589 5344589 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 5344589 5344589 T C SNP OR51B2 ENST00000328813 human ensembl 74_37 -1 known silent c.939 p.*313 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51B2 HGNC ENSG00000184881 40 0 0 33 11 25 OR8K5 0 genome.wustl.edu 37 11 55927697 55927697 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 55927697 55927697 C T SNP OR8K5 ENST00000313447 human ensembl 74_37 -1 known missense c.97 p.V33I 0.012 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K5 HGNC ENSG00000181752 98 0 0 61 37 37.7551 OR5T2 0 genome.wustl.edu 37 11 56000210 56000210 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 56000210 56000210 C A SNP OR5T2 ENST00000313264 human ensembl 74_37 -1 known missense c.452 p.C151F 0.178 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 OR5T2 HGNC ENSG00000181718 132 0 0 50 42 45.6522 P2RX3 0 genome.wustl.edu 37 11 57117371 57117371 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 57117371 57117371 C T SNP P2RX3 ENST00000263314 human ensembl 74_37 +1 known missense c.704 p.T235M 1.000 pfam_P2X_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X3_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX3 HGNC ENSG00000109991 35 0 0 17 8 32 TIMM10 0 genome.wustl.edu 37 11 57296267 57296267 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 57296267 57296267 C A SNP TIMM10 ENST00000257245 human ensembl 74_37 -1 known missense c.196 p.G66C 1.000 pfam_Tim10/DDP_fam_Znf,superfamily_Tim10/DDP_fam_Znf pfam_Tim10/DDP_fam_Znf,superfamily_Tim10/DDP_fam_Znf - no_errors TIMM10 HGNC ENSG00000134809 74 0 0 49 10 16.9492 TRIM22 0 genome.wustl.edu 37 11 5730360 5730360 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 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 123 0 0 60 34 36.1702 OR52E6 0 genome.wustl.edu 37 11 5862840 5862840 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 5862840 5862840 A G SNP OR52E6 ENST00000379946 human ensembl 74_37 -1 known silent c.300 p.F100 0.008 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 OR52E6 HGNC ENSG00000205409 157 0 0 113 35 23.6486 MPEG1 0 genome.wustl.edu 37 11 58979300 58979300 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 58979300 58979300 A G SNP MPEG1 ENST00000361050 human ensembl 74_37 -1 known missense c.1039 p.Y347H 1.000 NULL pfam_MACPF,smart_MACPF - no_errors MPEG1 HGNC ENSG00000197629 82 0 0 63 17 21.25 OR56A4 0 genome.wustl.edu 37 11 6023400 6023400 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 6023400 6023400 C T SNP OR56A4 ENST00000330728 human ensembl 74_37 -1 known missense c.979 p.V327I 0.030 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 OR56A4 HGNC ENSG00000183389 40 0 0 26 16 38.0952 MS4A13 0 genome.wustl.edu 37 11 60296882 60296882 + Silent SNP T T G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 60296882 60296882 T G SNP MS4A13 ENST00000378186 human ensembl 74_37 +1 known silent c.351 p.G117 0.000 pfam_CD20-like pfam_CD20-like - no_errors MS4A13 HGNC ENSG00000204979 66 0 0 32 10 23.8095 SLC22A8 0 genome.wustl.edu 37 11 62766431 62766431 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 62766431 62766431 A G SNP SLC22A8 ENST00000336232 human ensembl 74_37 -1 known silent c.723 p.T241 0.024 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 76 0 0 32 26 44.8276 SLC22A11 0 genome.wustl.edu 37 11 64323478 64323478 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 64323478 64323478 T C SNP SLC22A11 ENST00000301891 human ensembl 74_37 +1 known missense c.7 p.F3L 0.636 NULL pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A11 HGNC ENSG00000168065 45 0 0 18 17 48.5714 SCYL1 0 genome.wustl.edu 37 11 65298235 65298235 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 65298235 65298235 G A SNP SCYL1 ENST00000270176 human ensembl 74_37 +1 known missense c.985 p.V329I 0.998 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors SCYL1 HGNC ENSG00000142186 41 0 0 33 12 26.6667 SNX32 0 genome.wustl.edu 37 11 65618601 65618601 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 65618601 65618601 C T SNP SNX32 ENST00000308342 human ensembl 74_37 +1 known missense c.679 p.R227W 0.000 pfam_Vps5_C,pirsf_Snx5_Snx6 pfam_Vps5_C,pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox - no_errors SNX32 HGNC ENSG00000172803 118 1 0.840336 78 20 20.4082 CPT1A 0 genome.wustl.edu 37 11 68542897 68542897 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 68542897 68542897 C T SNP CPT1A ENST00000265641 human ensembl 74_37 -1 known missense c.1462 p.V488I 0.846 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1A HGNC ENSG00000110090 96 0 0 58 8 12.1212 ANO1 0 genome.wustl.edu 37 11 69995855 69995855 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 69995855 69995855 G A SNP ANO1 ENST00000355303 human ensembl 74_37 +1 known missense c.1298 p.R433Q 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO1 HGNC ENSG00000131620 24 0 0 13 5 27.7778 ANO1 0 genome.wustl.edu 37 11 70017068 70017068 + Missense_Mutation SNP T T G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 70017068 70017068 T G SNP ANO1 ENST00000355303 human ensembl 74_37 +1 known missense c.2273 p.I758S 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO1 HGNC ENSG00000131620 26 0 0 13 9 40.9091 SERPINH1 0 genome.wustl.edu 37 11 75277741 75277741 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 75277741 75277741 G A SNP SERPINH1 ENST00000358171 human ensembl 74_37 +1 known missense c.347 p.R116H 0.099 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINH1 HGNC ENSG00000149257 14 0 0 11 3 21.4286 UVRAG 0 genome.wustl.edu 37 11 75776823 75776823 + Missense_Mutation SNP T T G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 75776823 75776823 T G SNP UVRAG ENST00000356136 human ensembl 74_37 +1 known missense c.1296 p.N432K 0.988 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors UVRAG HGNC ENSG00000198382 72 0 0 61 14 18.6667 CYB5R2 0 genome.wustl.edu 37 11 7694000 7694000 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 7694000 7694000 C T SNP CYB5R2 ENST00000299498 human ensembl 74_37 -1 known silent c.57 p.P19 0.381 superfamily_Riboflavin_synthase-like_b-brl pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase - no_errors CYB5R2 HGNC ENSG00000166394 52 0 0 31 8 20.5128 FAT3 0 genome.wustl.edu 37 11 92088561 92088561 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 92088561 92088561 G A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.3283 p.D1095N 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 61 0 0 36 15 29.4118 FAT3 0 genome.wustl.edu 37 11 92533874 92533874 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 92533874 92533874 A G SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.7695 p.E2565 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 37 0 0 24 7 22.5806 PIWIL4 0 genome.wustl.edu 37 11 94340675 94340675 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 94340675 94340675 G A SNP PIWIL4 ENST00000299001 human ensembl 74_37 +1 known missense c.1709 p.C570Y 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi 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 50 0 0 26 11 29.7297 CWC15 0 genome.wustl.edu 37 11 94696586 94696586 + Missense_Mutation SNP T T A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 94696586 94696586 T A SNP CWC15 ENST00000279839 human ensembl 74_37 -1 known missense c.651 p.E217D 1.000 pfam_Cwf_Cwc_15 pfam_Cwf_Cwc_15 - no_errors CWC15 HGNC ENSG00000150316 10 0 0 3 7 70 NR1H4 0 genome.wustl.edu 37 12 100957089 100957089 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 100957089 100957089 T C SNP NR1H4 ENST00000551379 human ensembl 74_37 +1 known missense c.1283 p.V428A 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,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_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors NR1H4 HGNC ENSG00000012504 60 0 0 36 16 30.7692 GAS2L3 0 genome.wustl.edu 37 12 101005888 101005888 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 101005888 101005888 T C SNP GAS2L3 ENST00000266754 human ensembl 74_37 +1 known silent c.414 p.D138 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain 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 126 0 0 63 21 25 RIC8B 0 genome.wustl.edu 37 12 107254141 107254141 + Missense_Mutation SNP T T G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 107254141 107254141 T G SNP RIC8B ENST00000392837 human ensembl 74_37 +1 known missense c.1402 p.S468A 1.000 pfam_Gua_nucleotide_exch_fac_Ric8 pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn - no_errors RIC8B HGNC ENSG00000111785 55 0 0 25 13 34.2105 ISCU 0 genome.wustl.edu 37 12 108958107 108958107 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 108958107 108958107 C T SNP ISCU ENST00000311893 human ensembl 74_37 +1 known missense c.167 p.S56F 0.980 pfam_NIF_FeS_clus_asmbl_NifU_N,tigrfam_ISC_FeS_clus_asmbl_IscU pfam_NIF_FeS_clus_asmbl_NifU_N,tigrfam_ISC_FeS_clus_asmbl_IscU - no_errors ISCU HGNC ENSG00000136003 65 0 0 28 10 26.3158 TRPV4 0 genome.wustl.edu 37 12 110226433 110226433 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 110226433 110226433 G A SNP TRPV4 ENST00000261740 human ensembl 74_37 -1 known silent c.1980 p.C660 1.000 pfam_Ion_trans_dom,prints_TRPV4_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 90 0 0 47 18 27.6923 VPS29 0 genome.wustl.edu 37 12 110933822 110933822 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 110933822 110933822 C T SNP VPS29 ENST00000549578 human ensembl 74_37 -1 known missense c.190 p.D64N 1.000 tigrfam_Phosphodiesterase_MJ0936 tigrfam_Phosphodiesterase_MJ0936 - no_errors VPS29 HGNC ENSG00000111237 86 0 0 36 13 26.5306 PLBD2 0 genome.wustl.edu 37 12 113825620 113825620 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 113825620 113825620 C A SNP PLBD2 ENST00000280800 human ensembl 74_37 +1 known missense c.1511 p.A504D 1.000 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD2 HGNC ENSG00000151176 243 1 0.409836 126 43 25.4438 CCDC60 0 genome.wustl.edu 37 12 119773072 119773072 + Splice_Site SNP G G C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 119773072 119773072 G C SNP CCDC60 ENST00000327554 human ensembl 74_37 +1 known splice_site c.90+1 e1+1 1.000 - - - no_errors CCDC60 HGNC ENSG00000183273 64 0 0 26 18 40.9091 UNC119B 0 genome.wustl.edu 37 12 121154782 121154782 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 121154782 121154782 A G SNP UNC119B ENST00000344651 human ensembl 74_37 +1 known missense c.580 p.I194V 1.000 pfam_GMP_PDE_delta,superfamily_Ig_E-set pfam_GMP_PDE_delta,superfamily_Ig_E-set - no_errors UNC119B HGNC ENSG00000175970 123 0 0 64 17 20.9877 B3GNT4 0 genome.wustl.edu 37 12 122691078 122691078 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 122691078 122691078 C T SNP B3GNT4 ENST00000324189 human ensembl 74_37 +1 known missense c.280 p.R94C 1.000 NULL pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT4 HGNC ENSG00000176383 249 0 0 148 50 25.2525 HCAR2 0 genome.wustl.edu 37 12 123187233 123187233 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 123187233 123187233 G A SNP HCAR2 ENST00000328880 human ensembl 74_37 -1 known missense c.598 p.P200S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors HCAR2 HGNC ENSG00000182782 59 0 0 42 21 33.3333 SBNO1 0 genome.wustl.edu 37 12 123810084 123810084 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 123810084 123810084 G A SNP SBNO1 ENST00000420886 human ensembl 74_37 -1 known silent c.1938 p.G646 0.153 NULL pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 191 0 0 84 42 33.3333 DDX55 0 genome.wustl.edu 37 12 124092063 124092063 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 124092063 124092063 G A SNP DDX55 ENST00000238146 human ensembl 74_37 +1 known missense c.331 p.E111K 0.970 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX55 HGNC ENSG00000111364 60 0 0 40 15 27.2727 EP400 0 genome.wustl.edu 37 12 132446241 132446241 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 132446241 132446241 G A SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.1077 p.P359 1.000 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 46 0 0 28 4 12.5 P2RX2 0 genome.wustl.edu 37 12 133197638 133197638 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 133197638 133197638 G A SNP P2RX2 ENST00000343948 human ensembl 74_37 +1 known missense c.826 p.A276T 0.164 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X2_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX2 HGNC ENSG00000187848 97 0 0 53 16 23.1884 PLBD1 0 genome.wustl.edu 37 12 14664529 14664529 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 14664529 14664529 G A SNP PLBD1 ENST00000240617 human ensembl 74_37 -1 known silent c.961 p.L321 0.562 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD1 HGNC ENSG00000121316 129 0 0 60 18 23.0769 ART4 0 genome.wustl.edu 37 12 14993873 14993873 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 14993873 14993873 G T SNP ART4 ENST00000228936 human ensembl 74_37 -1 known missense c.359 p.A120D 0.993 pfam_ART,prints_ART pfam_ART,prints_ART - no_errors ART4 HGNC ENSG00000111339 132 0 0 62 28 31.1111 CMAS 0 genome.wustl.edu 37 12 22208418 22208418 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 22208418 22208418 A G SNP CMAS ENST00000229329 human ensembl 74_37 +1 known missense c.433 p.T145A 1.000 pfam_Cytidylyl_trans pfam_Cytidylyl_trans,superfamily_HAD-like_dom - no_errors CMAS HGNC ENSG00000111726 32 0 0 28 4 12.5 KRAS 0 genome.wustl.edu 37 12 25398281 25398281 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 25398281 25398281 C T SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.38 p.G13D 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 21 0 0 8 5 38.4615 CACNA1C-AS1 0 genome.wustl.edu 37 12 2787051 2787051 + RNA SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 2787051 2787051 G A SNP CACNA1C-AS1 ENST00000501371 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CACNA1C-AS1 HGNC ENSG00000246627 51 0 0 26 3 10.3448 TWF1 0 genome.wustl.edu 37 12 44191543 44191543 + Missense_Mutation SNP A A T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 44191543 44191543 A T SNP TWF1 ENST00000325127 human ensembl 74_37 -1 known missense c.679 p.L227M 0.934 pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin - no_errors TWF1 HGNC ENSG00000151239 65 0 0 34 14 29.1667 NELL2 0 genome.wustl.edu 37 12 44915909 44915909 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 44915909 44915909 T C SNP NELL2 ENST00000437801 human ensembl 74_37 -1 known silent c.2199 p.T733 0.240 smart_VWF_C,pfscan_VWF_C 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 67 0 0 32 6 15.7895 GPD1 0 genome.wustl.edu 37 12 50498517 50498517 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 50498517 50498517 A G SNP GPD1 ENST00000301149 human ensembl 74_37 +1 known missense c.202 p.K68E 1.000 pfam_G3P_DH_NAD-dep_N,pirsf_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk pfam_G3P_DH_NAD-dep_N,pfam_G3P_DH_NAD-dep_C,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk - no_errors GPD1 HGNC ENSG00000167588 88 0 0 58 21 26.5823 SCN8A 0 genome.wustl.edu 37 12 52094954 52094954 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 52094954 52094954 C T SNP SCN8A ENST00000354534 human ensembl 74_37 +1 known silent c.955 p.L319 0.990 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 54 0 0 26 11 29.7297 GDF11 0 genome.wustl.edu 37 12 56143376 56143376 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 56143376 56143376 C T SNP GDF11 ENST00000257868 human ensembl 74_37 +1 known missense c.934 p.R312C 1.000 pfam_TGF-b_C pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors GDF11 HGNC ENSG00000135414 103 0 0 45 21 31.8182 SUOX 0 genome.wustl.edu 37 12 56398288 56398288 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 56398288 56398288 T C SNP SUOX ENST00000266971 human ensembl 74_37 +1 known missense c.1115 p.V372A 1.000 pfam_OxRdtase_Mopterin-bd_dom,superfamily_OxRdtase_Mopterin-bd_dom pfam_OxRdtase_Mopterin-bd_dom,pfam_MoCF_OxRdtse_dimer,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_OxRdtase_Mopterin-bd_dom,superfamily_Ig_E-set,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Mopterin_OxRdtase_euk,prints_Cyt_B5-like_heme/steroid-bd - no_errors SUOX HGNC ENSG00000139531 27 0 0 15 7 31.8182 ERBB3 0 genome.wustl.edu 37 12 56481660 56481660 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 56481660 56481660 C T SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.695 p.A232V 1.000 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_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 111 0 0 43 9 17.3077 SMARCC2 0 genome.wustl.edu 37 12 56563427 56563427 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 56563427 56563427 C A SNP SMARCC2 ENST00000267064 human ensembl 74_37 -1 known missense c.2508 p.K836N 1.000 superfamily_Chromodomain-like pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 35 0 0 15 7 31.8182 STAT2 0 genome.wustl.edu 37 12 56749230 56749230 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 56749230 56749230 C T SNP STAT2 ENST00000314128 human ensembl 74_37 -1 known missense c.468 p.M156I 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_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 315 0 0 159 61 27.7273 INHBE 0 genome.wustl.edu 37 12 57849901 57849901 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 57849901 57849901 T C SNP INHBE ENST00000266646 human ensembl 74_37 +1 known missense c.323 p.L108P 0.027 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC,prints_Inhibin_asu - no_errors INHBE HGNC ENSG00000139269 274 0 0 126 43 25.4438 GLI1 0 genome.wustl.edu 37 12 57864396 57864396 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 57864396 57864396 G A SNP GLI1 ENST00000228682 human ensembl 74_37 +1 known missense c.1873 p.E625K 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 33 0 0 31 5 13.8889 MBD6 0 genome.wustl.edu 37 12 57920381 57920381 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 57920381 57920381 C A SNP MBD6 ENST00000355673 human ensembl 74_37 +1 known missense c.1453 p.P485T 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 55 0 0 43 14 24.5614 ENSG00000224713 0 genome.wustl.edu 37 12 58007438 58007438 + RNA SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 58007438 58007438 C T SNP ENSG00000224713 ENST00000356672 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC025165.8 Clone_based_vega_gene ENSG00000224713 35 0 0 16 11 40.7407 SRGAP1 0 genome.wustl.edu 37 12 64491077 64491077 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 64491077 64491077 G A SNP SRGAP1 ENST00000355086 human ensembl 74_37 +1 known missense c.1735 p.V579I 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 53 0 0 30 16 34.7826 XPOT 0 genome.wustl.edu 37 12 64812728 64812728 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 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 76 0 0 60 4 6.25 XPOT 0 genome.wustl.edu 37 12 64812733 64812733 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 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 80 0 0 61 5 7.57576 XPOT 0 genome.wustl.edu 37 12 64812808 64812808 + Silent SNP C C G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 64812808 64812808 C G SNP XPOT ENST00000332707 human ensembl 74_37 +1 known silent c.423 p.L141 0.776 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 105 0 0 63 6 8.69565 TMBIM4 0 genome.wustl.edu 37 12 66547166 66547166 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 66547166 66547166 T C SNP TMBIM4 ENST00000358230 human ensembl 74_37 -1 known missense c.160 p.T54A 0.000 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors TMBIM4 HGNC ENSG00000155957 65 0 0 34 10 22.7273 CHD4 0 genome.wustl.edu 37 12 6687040 6687040 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 6687040 6687040 A G SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known missense c.5356 p.Y1786H 1.000 pfam_CHD_C2 pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 112 0 0 61 17 21.7949 ACRBP 0 genome.wustl.edu 37 12 6749557 6749557 + Silent SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 6749557 6749557 G T SNP ACRBP ENST00000229243 human ensembl 74_37 -1 known silent c.1209 p.P403 0.005 NULL pfam_Proacrosin-bd - no_errors ACRBP HGNC ENSG00000111644 31 0 0 11 5 31.25 USP5 0 genome.wustl.edu 37 12 6964649 6964649 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 6964649 6964649 G A SNP USP5 ENST00000229268 human ensembl 74_37 +1 known missense c.196 p.G66S 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 USP5 HGNC ENSG00000111667 136 1 0.729927 69 24 25.8065 PHB2 0 genome.wustl.edu 37 12 7077645 7077645 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 7077645 7077645 T C SNP PHB2 ENST00000399433 human ensembl 74_37 -1 known missense c.406 p.I136V 1.000 pfam_Band_7,smart_Band_7,prints_Prohibitin pfam_Band_7,smart_Band_7,prints_Prohibitin - no_errors PHB2 HGNC ENSG00000215021 29 0 0 13 5 27.7778 PTPRR 0 genome.wustl.edu 37 12 71139707 71139707 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 71139707 71139707 T C SNP PTPRR ENST00000283228 human ensembl 74_37 -1 known missense c.898 p.N300D 0.979 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRR HGNC ENSG00000153233 60 0 0 33 10 23.2558 LGR5 0 genome.wustl.edu 37 12 71977612 71977612 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 71977612 71977612 G A SNP LGR5 ENST00000266674 human ensembl 74_37 +1 known missense c.1822 p.V608I 0.828 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM 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,pfscan_GPCR_Rhodpsn_7TM - no_errors LGR5 HGNC ENSG00000139292 63 0 0 33 13 28.2609 TRHDE 0 genome.wustl.edu 37 12 72667257 72667257 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 72667257 72667257 G A SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known silent c.699 p.L233 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 75 0 0 44 22 33.3333 NAP1L1 0 genome.wustl.edu 37 12 76449858 76449858 + Nonsense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 76449858 76449858 C T SNP NAP1L1 ENST00000261182 human ensembl 74_37 -1 known nonsense c.513 p.W171* 1.000 pfam_NAP_family pfam_NAP_family - no_errors NAP1L1 HGNC ENSG00000187109 76 0 0 23 11 32.3529 MYF5 0 genome.wustl.edu 37 12 81110900 81110900 + Missense_Mutation SNP T T A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 81110900 81110900 T A SNP MYF5 ENST00000228644 human ensembl 74_37 +1 known missense c.58 p.C20S 1.000 pfam_Basic,smart_Basic pfam_Basic,pfam_Myf5,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYF5 HGNC ENSG00000111049 27 0 0 13 7 35 CLEC4A 0 genome.wustl.edu 37 12 8281918 8281918 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 8281918 8281918 T C SNP CLEC4A ENST00000229332 human ensembl 74_37 +1 known silent c.258 p.H86 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4A HGNC ENSG00000111729 62 0 0 22 5 18.5185 CEP290 0 genome.wustl.edu 37 12 88472895 88472895 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 88472895 88472895 C T SNP CEP290 ENST00000309041 human ensembl 74_37 -1 known missense c.5344 p.V1782I 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 30 0 0 16 5 23.8095 NR2C1 0 genome.wustl.edu 37 12 95442864 95442864 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 95442864 95442864 C T SNP NR2C1 ENST00000333003 human ensembl 74_37 -1 known missense c.1111 p.D371N 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_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C1 HGNC ENSG00000120798 81 0 0 36 13 26.5306 CCDC38 0 genome.wustl.edu 37 12 96292234 96292234 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 96292234 96292234 C A SNP CCDC38 ENST00000344280 human ensembl 74_37 -1 known missense c.543 p.Q181H 0.988 NULL NULL - no_errors CCDC38 HGNC ENSG00000165972 127 1 0.78125 70 21 23.0769 APAF1 0 genome.wustl.edu 37 12 99076985 99076985 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 99076985 99076985 G A SNP APAF1 ENST00000551964 human ensembl 74_37 +1 known missense c.2111 p.C704Y 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep - no_errors APAF1 HGNC ENSG00000120868 90 0 0 44 20 31.25 TPP2 0 genome.wustl.edu 37 13 103257246 103257246 + Missense_Mutation SNP T T G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 13 103257246 103257246 T G SNP TPP2 ENST00000376065 human ensembl 74_37 +1 known missense c.269 p.V90G 0.438 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 158 0 0 102 38 27.1429 COL4A1 0 genome.wustl.edu 37 13 110835372 110835372 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 13 110835372 110835372 C T SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known missense c.2063 p.G688D 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 11 0 0 11 4 26.6667 COL4A2 0 genome.wustl.edu 37 13 111117854 111117854 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 13 111117854 111117854 G A SNP COL4A2 ENST00000360467 human ensembl 74_37 +1 known missense c.1879 p.G627S 0.997 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC ENSG00000134871 32 0 0 26 8 23.5294 ARHGEF7 0 genome.wustl.edu 37 13 111926266 111926266 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 13 111926266 111926266 T C SNP ARHGEF7 ENST00000375741 human ensembl 74_37 +1 known silent c.1242 p.P414 0.284 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain - no_errors ARHGEF7 HGNC ENSG00000102606 53 0 0 45 14 23.7288 GAS6 0 genome.wustl.edu 37 13 114526521 114526521 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 13 114526521 114526521 G A SNP GAS6 ENST00000357389 human ensembl 74_37 -1 known missense c.1609 p.R537W 0.000 superfamily_ConA-like_lec_gl_sf,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 44 0 0 38 11 22.449 GJB6 0 genome.wustl.edu 37 13 20797345 20797345 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 13 20797345 20797345 G A SNP GJB6 ENST00000241124 human ensembl 74_37 -1 known missense c.275 p.A92V 1.000 pfam_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJB6 HGNC ENSG00000121742 37 0 0 29 5 14.7059 MICU2 0 genome.wustl.edu 37 13 22070218 22070218 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 13 22070218 22070218 T C SNP MICU2 ENST00000382374 human ensembl 74_37 -1 known missense c.1015 p.S339G 0.944 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MICU2 HGNC ENSG00000165487 50 0 0 35 9 20.4545 SGCG 0 genome.wustl.edu 37 13 23824814 23824814 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 13 23824814 23824814 G A SNP SGCG ENST00000218867 human ensembl 74_37 +1 known missense c.343 p.A115T 0.472 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCG HGNC ENSG00000102683 32 0 0 33 13 28.2609 ATP12A 0 genome.wustl.edu 37 13 25262595 25262595 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 13 25262595 25262595 G A SNP ATP12A ENST00000218548 human ensembl 74_37 +1 known missense c.367 p.A123T 0.995 pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP12A HGNC ENSG00000075673 219 1 0.454545 217 63 22.5 GSX1 0 genome.wustl.edu 37 13 28367816 28367816 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 13 28367816 28367816 C T SNP GSX1 ENST00000302945 human ensembl 74_37 +1 known missense c.526 p.R176C 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 - no_errors GSX1 HGNC ENSG00000169840 80 0 0 76 18 19.1489 PAN3 0 genome.wustl.edu 37 13 28834653 28834653 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 13 28834653 28834653 G A SNP PAN3 ENST00000380958 human ensembl 74_37 +1 known missense c.1318 p.A440T 1.000 NULL superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_dom - no_errors PAN3 HGNC ENSG00000152520 89 0 0 71 6 7.79221 RXFP2 0 genome.wustl.edu 37 13 32366011 32366011 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 13 32366011 32366011 G A SNP RXFP2 ENST00000298386 human ensembl 74_37 +1 known missense c.1214 p.G405D 1.000 prints_Relaxin_rcpt 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 80 0 0 41 18 30.5085 EEF1DP3 0 genome.wustl.edu 37 13 32527044 32527044 + RNA SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 13 32527044 32527044 G A SNP EEF1DP3 ENST00000428783 human ensembl 74_37 +1 known rna NULL NULL 0.444 - - - no_errors EEF1DP3 HGNC ENSG00000229715 35 0 0 30 5 14.2857 SPG20 0 genome.wustl.edu 37 13 36909438 36909438 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 13 36909438 36909438 T C SNP SPG20 ENST00000355182 human ensembl 74_37 -1 known missense c.530 p.Q177R 0.993 NULL pfam_Senescence/spartin,pfam_MIT,smart_MIT - no_errors SPG20 HGNC ENSG00000133104 60 0 0 37 14 27.451 SMAD9 0 genome.wustl.edu 37 13 37453862 37453862 + RNA SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 13 37453862 37453862 C T SNP SMAD9 ENST00000483941 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SMAD9 HGNC ENSG00000120693 15 0 0 20 11 35.4839 NAA16 0 genome.wustl.edu 37 13 41943312 41943312 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 13 41943312 41943312 C T SNP NAA16 ENST00000379406 human ensembl 74_37 +1 known missense c.1840 p.H614Y 1.000 pirsf_NatA_aux_su pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR_1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA16 HGNC ENSG00000172766 109 0 0 72 26 26.5306 TPT1 0 genome.wustl.edu 37 13 45914128 45914128 + Splice_Site SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 13 45914128 45914128 C A SNP TPT1 ENST00000530705 human ensembl 74_37 -1 known splice_site c.293+1 e3+1 1.000 - - - no_errors TPT1 HGNC ENSG00000133112 57 0 0 38 8 17.3913 NEK5 0 genome.wustl.edu 37 13 52639595 52639595 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 13 52639595 52639595 C T SNP NEK5 ENST00000355568 human ensembl 74_37 -1 known missense c.2075 p.R692H 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK5 HGNC ENSG00000197168 90 0 0 37 25 40.3226 SUGT1 0 genome.wustl.edu 37 13 53239778 53239778 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 13 53239778 53239778 C T SNP SUGT1 ENST00000343788 human ensembl 74_37 +1 known silent c.525 p.D175 1.000 pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom pfam_SGS,pfam_CS_dom,superfamily_HSP20-like_chaperone,smart_TPR_repeat,pfscan_CS_dom,pfscan_SGS,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SUGT1 HGNC ENSG00000165416 31 0 0 18 7 28 PCDH17 0 genome.wustl.edu 37 13 58208795 58208795 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 13 58208795 58208795 G A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known silent c.2115 p.S705 0.952 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 59 0 0 43 8 15.6863 DIAPH3 0 genome.wustl.edu 37 13 60413550 60413550 + Nonsense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 13 60413550 60413550 G A SNP DIAPH3 ENST00000400324 human ensembl 74_37 -1 known nonsense c.2770 p.Q924* 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH3 HGNC ENSG00000139734 45 0 0 45 13 22.4138 PCDH9 0 genome.wustl.edu 37 13 67802393 67802393 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 13 67802393 67802393 G A SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known silent c.180 p.A60 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 65 0 0 34 13 27.6596 BORA 0 genome.wustl.edu 37 13 73327858 73327858 + Nonsense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 13 73327858 73327858 G T SNP BORA ENST00000390667 human ensembl 74_37 +1 known nonsense c.1513 p.G505* 1.000 NULL prints_Aurora_borealis_protien - no_errors BORA HGNC ENSG00000136122 84 0 0 53 9 14.5161 MYCBP2 0 genome.wustl.edu 37 13 77657276 77657276 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 13 77657276 77657276 C T SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.10927 p.G3643R 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 117 0 0 94 36 27.6923 SLITRK6 0 genome.wustl.edu 37 13 86370288 86370288 + Missense_Mutation SNP A A T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 13 86370288 86370288 A T SNP SLITRK6 ENST00000400286 human ensembl 74_37 -1 known missense c.356 p.I119N 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 SLITRK6 HGNC ENSG00000184564 99 0 0 63 17 21.25 GPC5 0 genome.wustl.edu 37 13 93518632 93518632 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 13 93518632 93518632 G A SNP GPC5 ENST00000377067 human ensembl 74_37 +1 known silent c.1659 p.A553 0.000 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 114 0 0 74 26 26 MOK 0 genome.wustl.edu 37 14 102695911 102695911 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 102695911 102695911 C T SNP MOK ENST00000519058 human ensembl 74_37 -1 putative missense c.148 p.G50R 0.000 NULL NULL - no_errors MOK HGNC ENSG00000080823 55 0 0 35 12 25.5319 TNFAIP2 0 genome.wustl.edu 37 14 103601572 103601572 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 103601572 103601572 G A SNP TNFAIP2 ENST00000333007 human ensembl 74_37 +1 known missense c.1840 p.A614T 0.960 pfam_Sec6 pfam_Sec6 - no_errors TNFAIP2 HGNC ENSG00000185215 49 0 0 27 7 20.5882 PACS2 0 genome.wustl.edu 37 14 105833659 105833659 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 105833659 105833659 C A SNP PACS2 ENST00000458164 human ensembl 74_37 +1 known missense c.533 p.P178H 1.000 NULL pfam_Phosphofurin_acidic_CS-1 - no_errors PACS2 HGNC ENSG00000179364 49 0 0 42 10 19.2308 TEP1 0 genome.wustl.edu 37 14 20853225 20853225 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 20853225 20853225 A G SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known missense c.3026 p.V1009A 1.000 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 49 0 0 25 14 35.8974 TEP1 0 genome.wustl.edu 37 14 20871992 20871992 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 20871992 20871992 G A SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known missense c.1084 p.R362C 1.000 pfam_TROVE,pfscan_TROVE pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 47 0 0 37 11 22.9167 SALL2 0 genome.wustl.edu 37 14 21993076 21993076 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 21993076 21993076 A G SNP SALL2 ENST00000327430 human ensembl 74_37 -1 known silent c.786 p.S262 0.746 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL2 HGNC ENSG00000165821 29 0 0 24 5 17.2414 MYH7 0 genome.wustl.edu 37 14 23902741 23902741 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 23902741 23902741 C A SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.201 p.K67N 1.000 pfam_Myosin_N,superfamily_P-loop_NTPase pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 61 0 0 30 14 31.8182 PCK2 0 genome.wustl.edu 37 14 24572963 24572963 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 24572963 24572963 A G SNP PCK2 ENST00000216780 human ensembl 74_37 +1 known silent c.1713 p.T571 0.472 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 57 0 0 20 13 39.3939 FOXG1 0 genome.wustl.edu 37 14 29237047 29237047 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 29237047 29237047 G A SNP FOXG1 ENST00000313071 human ensembl 74_37 +1 known missense c.562 p.A188T 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 FOXG1 HGNC ENSG00000176165 37 0 0 16 5 23.8095 PPP2R3C 0 genome.wustl.edu 37 14 35564337 35564337 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 35564337 35564337 G A SNP PPP2R3C ENST00000261475 human ensembl 74_37 -1 known missense c.892 p.L298F 1.000 NULL NULL - no_errors PPP2R3C HGNC ENSG00000092020 57 0 0 27 6 18.1818 SSTR1 0 genome.wustl.edu 37 14 38678777 38678777 + Silent SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 38678777 38678777 C A SNP SSTR1 ENST00000267377 human ensembl 74_37 +1 known silent c.183 p.I61 1.000 prints_GPCR_Rhodpsn,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 60 0 0 30 14 31.8182 NIN 0 genome.wustl.edu 37 14 51192775 51192775 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 51192775 51192775 C T SNP NIN ENST00000245441 human ensembl 74_37 -1 known missense c.6088 p.E2030K 0.998 NULL superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 67 0 0 25 21 45.6522 TRIM9 0 genome.wustl.edu 37 14 51561483 51561483 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 51561483 51561483 C T SNP TRIM9 ENST00000338969 human ensembl 74_37 -1 known missense c.175 p.D59N 1.000 smart_Znf_RING pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 12 0 0 5 3 37.5 C14orf166 0 genome.wustl.edu 37 14 52466489 52466489 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 52466489 52466489 A G SNP C14orf166 ENST00000261700 human ensembl 74_37 +1 known missense c.437 p.H146R 1.000 pfam_UPF0568 pfam_UPF0568 - no_errors C14orf166 HGNC ENSG00000087302 74 0 0 39 13 25 BMP4 0 genome.wustl.edu 37 14 54417278 54417278 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 54417278 54417278 C T SNP BMP4 ENST00000245451 human ensembl 74_37 -1 known silent c.699 p.G233 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP4 HGNC ENSG00000125378 64 0 0 37 9 19.5652 C14orf105 0 genome.wustl.edu 37 14 57960431 57960431 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 57960431 57960431 C A SNP C14orf105 ENST00000216445 human ensembl 74_37 -1 known missense c.3 p.M1I 1.000 NULL NULL - no_errors C14orf105 HGNC ENSG00000100557 26 0 0 13 7 35 KIAA0586 0 genome.wustl.edu 37 14 58943922 58943922 + Silent SNP A A C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 58943922 58943922 A C SNP KIAA0586 ENST00000556134 human ensembl 74_37 +1 known silent c.2862 p.S954 0.999 NULL NULL - no_errors KIAA0586 HGNC ENSG00000100578 17 0 0 9 2 18.1818 PCNXL4 0 genome.wustl.edu 37 14 60591468 60591468 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 60591468 60591468 A G SNP PCNXL4 ENST00000404681 human ensembl 74_37 +1 known missense c.2579 p.Q860R 0.001 NULL pfam_Pecanex - no_errors PCNXL4 HGNC ENSG00000126773 213 0 0 87 32 26.8908 PRKCH 0 genome.wustl.edu 37 14 62016477 62016477 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 62016477 62016477 G T SNP PRKCH ENST00000332981 human ensembl 74_37 +1 known missense c.1980 p.E660D 0.999 pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,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 100 0 0 46 25 35.2113 PPP2R5E 0 genome.wustl.edu 37 14 63863413 63863413 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 63863413 63863413 C T SNP PPP2R5E ENST00000337537 human ensembl 74_37 -1 known missense c.571 p.E191K 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 67 0 0 31 13 29.5455 HSPA2 0 genome.wustl.edu 37 14 65007553 65007553 + RNA SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 65007553 65007553 C T SNP HSPA2 ENST00000554883 human ensembl 74_37 +1 putative rna NULL NULL 0.002 - - - no_errors HSPA2 HGNC ENSG00000126803 42 0 0 17 7 29.1667 TMEM229B 0 genome.wustl.edu 37 14 67940214 67940214 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 67940214 67940214 G A SNP TMEM229B ENST00000357461 human ensembl 74_37 -1 known missense c.427 p.R143C 1.000 NULL pfam_DUF1113_TMEM229 - no_errors TMEM229B HGNC ENSG00000198133 20 0 0 7 10 58.8235 SYNJ2BP 0 genome.wustl.edu 37 14 70855230 70855230 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 70855230 70855230 G A SNP SYNJ2BP ENST00000256366 human ensembl 74_37 -1 known missense c.158 p.A53V 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNJ2BP HGNC ENSG00000213463 35 0 0 24 5 17.2414 PCNX 0 genome.wustl.edu 37 14 71455319 71455319 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 71455319 71455319 C T SNP PCNX ENST00000304743 human ensembl 74_37 +1 known missense c.2347 p.R783C 1.000 NULL pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 103 0 0 53 26 32.9114 SIPA1L1 0 genome.wustl.edu 37 14 72055785 72055785 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 72055785 72055785 G A SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.1196 p.S399N 0.850 NULL 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 33 14 29.7872 RBM25 0 genome.wustl.edu 37 14 73566386 73566386 + Missense_Mutation SNP T T A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 73566386 73566386 T A SNP RBM25 ENST00000261973 human ensembl 74_37 +1 known missense c.795 p.N265K 1.000 NULL pfam_PWI_dom,pfam_RRM_dom,superfamily_PWI_dom,smart_RRM_dom,smart_PWI_dom,pfscan_RRM_dom - no_errors RBM25 HGNC ENSG00000119707 99 0 0 58 26 30.9524 ELMSAN1 0 genome.wustl.edu 37 14 74203800 74203800 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 74203800 74203800 G A SNP ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known silent c.1650 p.D550 0.345 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 63 0 0 28 10 26.3158 AREL1 0 genome.wustl.edu 37 14 75139565 75139565 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 75139565 75139565 A G SNP AREL1 ENST00000356357 human ensembl 74_37 -1 known missense c.1391 p.L464P 1.000 superfamily_HECT pfam_HECT,pfam_Filamin/ABP280_repeat-like,superfamily_HECT,superfamily_Ig_E-set,smart_HECT,pfscan_Filamin/ABP280_repeat-like,pfscan_HECT - no_errors AREL1 HGNC ENSG00000119682 152 0 0 68 15 18.0723 FLRT2 0 genome.wustl.edu 37 14 86087980 86087980 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 86087980 86087980 G A SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known missense c.122 p.R41H 1.000 pfam_LRR-contain_N,smart_LRR-contain_N 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 102 0 0 58 14 19.4444 CCDC88C 0 genome.wustl.edu 37 14 91780228 91780228 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 91780228 91780228 G A SNP CCDC88C ENST00000389857 human ensembl 74_37 -1 known silent c.1932 p.N644 0.196 superfamily_Fum_Rdtase/Succ_DH_flav-like_C pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 13 0 0 11 8 42.1053 FBLN5 0 genome.wustl.edu 37 14 92406952 92406952 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 92406952 92406952 G A SNP FBLN5 ENST00000342058 human ensembl 74_37 -1 known silent c.81 p.C27 1.000 NULL pfam_EGF-like_Ca-bd_dom,superfamily_TIL_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors FBLN5 HGNC ENSG00000140092 47 0 0 15 6 28.5714 LGMN 0 genome.wustl.edu 37 14 93176196 93176196 + Missense_Mutation SNP T T G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 93176196 93176196 T G SNP LGMN ENST00000334869 human ensembl 74_37 -1 known missense c.841 p.M281L 1.000 pfam_Peptidase_C13 pfam_Peptidase_C13,prints_Peptidase_C13 - no_errors LGMN HGNC ENSG00000100600 60 0 0 28 10 26.3158 SERPINA6 0 genome.wustl.edu 37 14 94780499 94780499 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 94780499 94780499 A G SNP SERPINA6 ENST00000341584 human ensembl 74_37 -1 known missense c.487 p.W163R 0.020 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA6 HGNC ENSG00000170099 88 0 0 33 8 19.5122 SETD3 0 genome.wustl.edu 37 14 99871571 99871571 + Silent SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 99871571 99871571 G T SNP SETD3 ENST00000331768 human ensembl 74_37 -1 known silent c.1062 p.A354 0.003 pfam_Rubisco_LSMT_subst-bd,superfamily_Rubisco_LSMT_subst-bd pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,superfamily_Rubisco_LSMT_subst-bd - no_errors SETD3 HGNC ENSG00000183576 128 0 0 67 33 33 LYSMD4 0 genome.wustl.edu 37 15 100272053 100272053 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 100272053 100272053 C T SNP LYSMD4 ENST00000344791 human ensembl 74_37 -1 known missense c.64 p.G22R 1.000 NULL NULL - no_errors LYSMD4 HGNC ENSG00000183060 26 0 0 13 3 18.75 DNM1P46 0 genome.wustl.edu 37 15 100339938 100339938 + RNA SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 100339938 100339938 C T SNP DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 0.992 - - - no_errors DNM1P46 HGNC ENSG00000182397 20 0 0 23 7 23.3333 DNM1P46 0 genome.wustl.edu 37 15 100339960 100339960 + RNA SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 100339960 100339960 G A SNP DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DNM1P46 HGNC ENSG00000182397 28 0 0 25 6 19.3548 CHSY1 0 genome.wustl.edu 37 15 101775430 101775430 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 101775430 101775430 C T SNP CHSY1 ENST00000254190 human ensembl 74_37 -1 known missense c.673 p.V225M 1.000 pfam_Fringe-like pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY1 HGNC ENSG00000131873 54 0 0 49 4 7.54717 TM2D3 0 genome.wustl.edu 37 15 102182749 102182749 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 102182749 102182749 G A SNP TM2D3 ENST00000333202 human ensembl 74_37 -1 known missense c.677 p.T226M 1.000 pfam_TM2 pfam_TM2 - no_errors TM2D3 HGNC ENSG00000184277 96 0 0 37 22 37.2881 TARSL2 0 genome.wustl.edu 37 15 102224299 102224299 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 102224299 102224299 G A SNP TARSL2 ENST00000335968 human ensembl 74_37 -1 known silent c.1629 p.H543 1.000 pfam_aa-tRNA-synt_IIb_cons-dom,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 TARSL2 HGNC ENSG00000185418 53 0 0 20 10 33.3333 ATP10A 0 genome.wustl.edu 37 15 25953366 25953366 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 25953366 25953366 C T SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.2426 p.R809H 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,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 74 0 0 44 11 20 HERC2 0 genome.wustl.edu 37 15 28421604 28421604 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 28421604 28421604 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.9656 p.A3219V 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens 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 73 0 0 33 14 29.7872 OTUD7A 0 genome.wustl.edu 37 15 31819407 31819407 + Nonsense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 31819407 31819407 G A SNP OTUD7A ENST00000382902 human ensembl 74_37 -1 known nonsense c.757 p.Q253* 1.000 pfam_OTU,pfscan_OTU pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7A HGNC ENSG00000169918 89 0 0 58 24 29.2683 AVEN 0 genome.wustl.edu 37 15 34159951 34159951 + Missense_Mutation SNP G G C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 34159951 34159951 G C SNP AVEN ENST00000306730 human ensembl 74_37 -1 known missense c.718 p.P240A 0.000 NULL NULL - no_errors AVEN HGNC ENSG00000169857 66 0 0 39 11 22 NUTM1 0 genome.wustl.edu 37 15 34648763 34648763 + Nonsense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 34648763 34648763 C T SNP NUTM1 ENST00000333756 human ensembl 74_37 +1 known nonsense c.2470 p.Q824* 0.008 NULL NULL - no_errors NUTM1 HGNC ENSG00000184507 76 0 0 36 13 26.5306 RTF1 0 genome.wustl.edu 37 15 41772868 41772868 + Nonsense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 41772868 41772868 C T SNP RTF1 ENST00000389629 human ensembl 74_37 +1 known nonsense c.2116 p.R706* 1.000 NULL pfam_Plus-3,smart_Plus3-dom_subgr - no_errors RTF1 HGNC ENSG00000137815 55 0 0 26 4 13.3333 MGA 0 genome.wustl.edu 37 15 41988756 41988756 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 41988756 41988756 T C SNP MGA ENST00000219905 human ensembl 74_37 +1 known silent c.1548 p.N516 0.032 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 51 0 0 31 15 32.6087 ZSCAN29 0 genome.wustl.edu 37 15 43661966 43661966 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 43661966 43661966 G A SNP ZSCAN29 ENST00000396976 human ensembl 74_37 -1 known missense c.146 p.P49L 0.996 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN29 HGNC ENSG00000140265 50 0 0 41 14 25.4545 FBN1 0 genome.wustl.edu 37 15 48741074 48741074 + Missense_Mutation SNP T T G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 48741074 48741074 T G SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.5562 p.Q1854H 0.995 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_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 50 0 0 22 7 24.1379 GALK2 0 genome.wustl.edu 37 15 49575851 49575851 + Missense_Mutation SNP A A C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 49575851 49575851 A C SNP GALK2 ENST00000560031 human ensembl 74_37 +1 known missense c.692 p.E231A 1.000 pirsf_Galactokinase,tigrfam_Galactokinase pfam_GalKase_gal-bd,pfam_GHMP_kinase_N_dom,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,tigrfam_Galactokinase - no_errors GALK2 HGNC ENSG00000156958 41 0 0 36 2 5.26316 ONECUT1 0 genome.wustl.edu 37 15 53081051 53081051 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 53081051 53081051 C T SNP ONECUT1 ENST00000305901 human ensembl 74_37 -1 known missense c.1031 p.R344Q 1.000 pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors ONECUT1 HGNC ENSG00000169856 27 0 0 17 6 26.087 TCF12 0 genome.wustl.edu 37 15 57545469 57545469 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 57545469 57545469 A G SNP TCF12 ENST00000438423 human ensembl 74_37 +1 known missense c.1270 p.M424V 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF12 HGNC ENSG00000140262 78 0 0 40 17 29.8246 ALDH1A2 0 genome.wustl.edu 37 15 58285256 58285256 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 58285256 58285256 G A SNP ALDH1A2 ENST00000249750 human ensembl 74_37 -1 known silent c.571 p.L191 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A2 HGNC ENSG00000128918 73 0 0 40 10 20 GCNT3 0 genome.wustl.edu 37 15 59911456 59911456 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 59911456 59911456 G A SNP GCNT3 ENST00000396065 human ensembl 74_37 +1 known missense c.1019 p.R340Q 0.997 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT3 HGNC ENSG00000140297 120 0 0 90 5 5.26316 TLN2 0 genome.wustl.edu 37 15 62994288 62994288 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 62994288 62994288 C T SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known silent c.1794 p.A598 0.018 pfam_Talin_cent,superfamily_Talin_cent 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 63 0 0 16 7 30.4348 APH1B 0 genome.wustl.edu 37 15 63598041 63598041 + RNA SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 63598041 63598041 C T SNP APH1B ENST00000559823 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors APH1B HGNC ENSG00000138613 24 0 0 8 6 42.8571 IGDCC4 0 genome.wustl.edu 37 15 65677433 65677433 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 65677433 65677433 G T SNP IGDCC4 ENST00000352385 human ensembl 74_37 -1 novel missense c.3201 p.S1067R 0.000 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 IGDCC4 HGNC ENSG00000103742 10 0 0 7 8 53.3333 SLC24A1 0 genome.wustl.edu 37 15 65946296 65946296 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 65946296 65946296 C T SNP SLC24A1 ENST00000261892 human ensembl 74_37 +1 known missense c.3179 p.A1060V 1.000 pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A1 HGNC ENSG00000074621 166 0 0 89 28 23.9316 ITGA11 0 genome.wustl.edu 37 15 68617468 68617468 + Splice_Site SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 68617468 68617468 C T SNP ITGA11 ENST00000315757 human ensembl 74_37 -1 known splice_site c.2322+1 e18+1 1.000 - - - no_errors ITGA11 HGNC ENSG00000137809 39 0 0 26 4 13.3333 NOX5 0 genome.wustl.edu 37 15 69329504 69329504 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 69329504 69329504 G A SNP NOX5 ENST00000388866 human ensembl 74_37 +1 known missense c.1325 p.R442H 1.000 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 51 0 0 23 12 34.2857 LRRC49 0 genome.wustl.edu 37 15 71193355 71193355 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 71193355 71193355 C T SNP LRRC49 ENST00000260382 human ensembl 74_37 +1 known silent c.288 p.S96 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC49 HGNC ENSG00000137821 53 0 0 24 12 33.3333 NEO1 0 genome.wustl.edu 37 15 73470705 73470705 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 73470705 73470705 T C SNP NEO1 ENST00000261908 human ensembl 74_37 +1 known missense c.1228 p.C410R 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 64 0 0 27 13 32.5 NEO1 0 genome.wustl.edu 37 15 73594972 73594972 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 73594972 73594972 C T SNP NEO1 ENST00000261908 human ensembl 74_37 +1 known silent c.4321 p.L1441 1.000 pfam_Neogenin_C 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 37 0 0 28 8 22.2222 CSPG4 0 genome.wustl.edu 37 15 75968797 75968797 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 75968797 75968797 A G SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known silent c.6063 p.H2021 0.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 92 0 0 59 24 28.9157 CHRNB4 0 genome.wustl.edu 37 15 78921917 78921917 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 78921917 78921917 C T SNP CHRNB4 ENST00000261751 human ensembl 74_37 -1 known missense c.730 p.V244M 0.988 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 CHRNB4 HGNC ENSG00000117971 114 0 0 57 27 32.1429 SH3GL3 0 genome.wustl.edu 37 15 84237297 84237297 + Nonstop_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 84237297 84237297 A G SNP SH3GL3 ENST00000563901 human ensembl 74_37 +1 known nonstop c.197 p.*66W 1.000 NULL pfam_BAR_dom - no_errors SH3GL3 HGNC ENSG00000140600 80 0 0 44 13 22.807 ZSCAN2 0 genome.wustl.edu 37 15 85164068 85164068 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 85164068 85164068 C T SNP ZSCAN2 ENST00000448803 human ensembl 74_37 +1 known silent c.642 p.G214 0.982 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 ZSCAN2 HGNC ENSG00000176371 104 0 0 49 12 19.6721 SLCO3A1 0 genome.wustl.edu 37 15 92647631 92647631 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 92647631 92647631 C T SNP SLCO3A1 ENST00000318445 human ensembl 74_37 +1 known missense c.868 p.P290S 0.998 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 53 0 0 35 13 27.0833 MCTP2 0 genome.wustl.edu 37 15 94901781 94901781 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 94901781 94901781 G A SNP MCTP2 ENST00000357742 human ensembl 74_37 +1 known missense c.1241 p.G414D 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors MCTP2 HGNC ENSG00000140563 62 0 0 27 15 35.7143 SYNM 0 genome.wustl.edu 37 15 99671044 99671044 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 99671044 99671044 G A SNP SYNM ENST00000336292 human ensembl 74_37 +1 known missense c.2476 p.E826K 0.998 NULL pfam_IF - no_errors SYNM HGNC ENSG00000182253 39 0 0 21 17 44.7368 BAIAP3 0 genome.wustl.edu 37 16 1394670 1394670 + Nonsense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 1394670 1394670 C A SNP BAIAP3 ENST00000324385 human ensembl 74_37 +1 known nonsense c.1833 p.C611* 0.990 NULL pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors BAIAP3 HGNC ENSG00000007516 66 0 0 48 11 18.6441 ABCC6 0 genome.wustl.edu 37 16 16248763 16248763 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 16248763 16248763 G A SNP ABCC6 ENST00000205557 human ensembl 74_37 -1 known silent c.4008 p.H1336 0.940 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc 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,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 9 0 0 9 5 35.7143 ABCC6 0 genome.wustl.edu 37 16 16302688 16302688 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 16302688 16302688 G A SNP ABCC6 ENST00000205557 human ensembl 74_37 -1 known silent c.691 p.L231 0.013 tigrfam_Multidrug-R_assoc 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,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 43 0 0 33 6 15.3846 GPRC5B 0 genome.wustl.edu 37 16 19883873 19883873 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 19883873 19883873 A G SNP GPRC5B ENST00000537135 human ensembl 74_37 -1 known missense c.373 p.F125L 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5B HGNC ENSG00000167191 18 0 0 15 3 16.6667 RPS2 0 genome.wustl.edu 37 16 2012162 2012162 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 2012162 2012162 G A SNP RPS2 ENST00000343262 human ensembl 74_37 -1 known silent c.819 p.L273 0.960 NULL pfam_Ribosomal_S5_N,pfam_Ribosomal_S5_C,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N,tigrfam_Ribosomal_S5_euk/arc - no_errors RPS2 HGNC ENSG00000140988 40 0 0 24 6 20 ACSM1 0 genome.wustl.edu 37 16 20702489 20702489 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 20702489 20702489 G A SNP ACSM1 ENST00000307493 human ensembl 74_37 -1 known missense c.22 p.R8W 0.128 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM1 HGNC ENSG00000166743 101 0 0 58 13 18.3099 DNAH3 0 genome.wustl.edu 37 16 21042447 21042447 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 21042447 21042447 G A SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.5359 p.R1787C 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 78 0 0 44 12 21.4286 TRAF7 0 genome.wustl.edu 37 16 2222317 2222317 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 2222317 2222317 C T SNP TRAF7 ENST00000326181 human ensembl 74_37 +1 known missense c.601 p.P201S 0.001 superfamily_TRAF-like pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TRAF7 HGNC ENSG00000131653 14 0 0 7 2 22.2222 MLST8 0 genome.wustl.edu 37 16 2258499 2258499 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 2258499 2258499 G A SNP MLST8 ENST00000397124 human ensembl 74_37 +1 known silent c.747 p.T249 0.015 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors MLST8 HGNC ENSG00000167965 40 0 0 35 10 22.2222 IL4R 0 genome.wustl.edu 37 16 27353456 27353456 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 27353456 27353456 T C SNP IL4R ENST00000170630 human ensembl 74_37 +1 known silent c.85 p.L29 0.004 pfam_IL-4_rcpt-alpha_N,superfamily_Fibronectin_type3 pfam_IL-4_rcpt-alpha_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL4R HGNC ENSG00000077238 42 0 0 32 6 15.7895 IL27 0 genome.wustl.edu 37 16 28513323 28513323 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 28513323 28513323 C T SNP IL27 ENST00000356897 human ensembl 74_37 -1 known missense c.436 p.D146N 0.773 superfamily_4_helix_cytokine-like_core superfamily_4_helix_cytokine-like_core - no_errors IL27 HGNC ENSG00000197272 40 0 0 26 10 27.7778 KCTD13 0 genome.wustl.edu 37 16 29922371 29922371 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 29922371 29922371 G A SNP KCTD13 ENST00000308768 human ensembl 74_37 -1 known silent c.681 p.Y227 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD13 HGNC ENSG00000174943 44 0 0 40 11 21.5686 HIRIP3 0 genome.wustl.edu 37 16 30005496 30005496 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 30005496 30005496 T C SNP HIRIP3 ENST00000279392 human ensembl 74_37 -1 known missense c.970 p.K324E 0.000 NULL pfam_Histone_chaperone_domain_CHZ - no_errors HIRIP3 HGNC ENSG00000149929 122 0 0 84 15 15.1515 ITGAL 0 genome.wustl.edu 37 16 30490515 30490515 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 30490515 30490515 G A SNP ITGAL ENST00000356798 human ensembl 74_37 +1 known missense c.431 p.R144H 0.002 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAL HGNC ENSG00000005844 57 0 0 39 11 22 ZNF668 0 genome.wustl.edu 37 16 31072722 31072722 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 31072722 31072722 A G SNP ZNF668 ENST00000426488 human ensembl 74_37 -1 known silent c.1596 p.A532 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF668 HGNC ENSG00000167394 47 0 0 43 9 17.3077 KAT8 0 genome.wustl.edu 37 16 31131803 31131803 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 31131803 31131803 C T SNP KAT8 ENST00000448516 human ensembl 74_37 +1 known missense c.430 p.R144C 1.000 superfamily_Chromodomain-like pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT8 HGNC ENSG00000103510 59 0 0 22 9 29.0323 ITGAX 0 genome.wustl.edu 37 16 31383801 31383801 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 31383801 31383801 G A SNP ITGAX ENST00000268296 human ensembl 74_37 +1 known missense c.2263 p.A755T 0.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ENSG00000140678 40 0 0 15 16 51.6129 AXIN1 0 genome.wustl.edu 37 16 339512 339512 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 339512 339512 C T SNP AXIN1 ENST00000262320 human ensembl 74_37 -1 known missense c.2390 p.R797H 1.000 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 28 0 0 30 13 30.2326 ADCY9 0 genome.wustl.edu 37 16 4164627 4164627 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 4164627 4164627 C T SNP ADCY9 ENST00000294016 human ensembl 74_37 -1 known missense c.817 p.G273R 0.003 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 29 0 0 30 10 25 ADCY9 0 genome.wustl.edu 37 16 4164980 4164980 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 4164980 4164980 A G SNP ADCY9 ENST00000294016 human ensembl 74_37 -1 known missense c.464 p.V155A 0.998 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 49 0 0 34 11 24.4444 TFAP4 0 genome.wustl.edu 37 16 4312636 4312636 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 4312636 4312636 G A SNP TFAP4 ENST00000573476 human ensembl 74_37 -1 known missense c.190 p.R64C 0.188 NULL NULL - no_errors TFAP4 HGNC ENSG00000090447 50 0 0 31 34 52.3077 ZNF423 0 genome.wustl.edu 37 16 49671711 49671711 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 49671711 49671711 G T SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known missense c.1352 p.P451H 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 76 0 0 73 5 6.41026 ADCY7 0 genome.wustl.edu 37 16 50332842 50332842 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 50332842 50332842 C A SNP ADCY7 ENST00000254235 human ensembl 74_37 +1 known missense c.976 p.L326I 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_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 ADCY7 HGNC ENSG00000121281 62 0 0 40 15 27.2727 NOD2 0 genome.wustl.edu 37 16 50744697 50744697 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 50744697 50744697 C T SNP NOD2 ENST00000300589 human ensembl 74_37 +1 known missense c.875 p.A292V 0.932 superfamily_P-loop_NTPase pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD2 HGNC ENSG00000167207 32 0 0 25 5 16.6667 SALL1 0 genome.wustl.edu 37 16 51174686 51174686 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 51174686 51174686 C T SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.1447 p.G483R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 120 0 0 61 24 28.2353 MMP2 0 genome.wustl.edu 37 16 55519218 55519218 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 55519218 55519218 C T SNP MMP2 ENST00000219070 human ensembl 74_37 +1 known silent c.537 p.G179 0.950 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP2 HGNC ENSG00000087245 137 0 0 104 11 9.56522 MMP2 0 genome.wustl.edu 37 16 55525756 55525756 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 55525756 55525756 C T SNP MMP2 ENST00000219070 human ensembl 74_37 +1 known silent c.1224 p.A408 0.093 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP2 HGNC ENSG00000087245 41 0 0 30 16 34.7826 CETP 0 genome.wustl.edu 37 16 57016121 57016121 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 57016121 57016121 C T SNP CETP ENST00000200676 human ensembl 74_37 +1 known silent c.1293 p.T431 0.005 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer - no_errors CETP HGNC ENSG00000087237 62 0 0 44 14 24.1379 NLRC5 0 genome.wustl.edu 37 16 57092035 57092035 + Nonsense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 57092035 57092035 C T SNP NLRC5 ENST00000262510 human ensembl 74_37 +1 known nonsense c.3805 p.Q1269* 0.008 smart_Leu-rich_rpt_RNase_inh_sub-typ 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 13 0 0 15 11 42.3077 CCDC113 0 genome.wustl.edu 37 16 58288046 58288046 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 58288046 58288046 G A SNP CCDC113 ENST00000219299 human ensembl 74_37 +1 known missense c.373 p.D125N 0.977 NULL NULL - no_errors CCDC113 HGNC ENSG00000103021 71 0 0 44 10 18.5185 GOT2 0 genome.wustl.edu 37 16 58757658 58757658 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 58757658 58757658 C T SNP GOT2 ENST00000245206 human ensembl 74_37 -1 known missense c.238 p.V80I 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,prints_Asp_trans - no_errors GOT2 HGNC ENSG00000125166 193 0 0 127 30 19.1083 PLEKHG4 0 genome.wustl.edu 37 16 67319435 67319435 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 67319435 67319435 G A SNP PLEKHG4 ENST00000360461 human ensembl 74_37 +1 known missense c.2438 p.R813H 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4 HGNC ENSG00000196155 46 0 0 33 9 21.4286 LRRC36 0 genome.wustl.edu 37 16 67412553 67412553 + Missense_Mutation SNP T T A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 67412553 67412553 T A SNP LRRC36 ENST00000329956 human ensembl 74_37 +1 known missense c.1868 p.I623N 0.980 NULL NULL - no_errors LRRC36 HGNC ENSG00000159708 78 0 0 50 18 26.4706 EDC4 0 genome.wustl.edu 37 16 67909972 67909972 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 67909972 67909972 G A SNP EDC4 ENST00000358933 human ensembl 74_37 +1 known missense c.207 p.M69I 0.877 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC ENSG00000038358 111 0 0 85 19 18.2692 PDPR 0 genome.wustl.edu 37 16 70154529 70154529 + Missense_Mutation SNP T T A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 70154529 70154529 T A SNP PDPR ENST00000288050 human ensembl 74_37 +1 known missense c.134 p.V45E 1.000 pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom - no_errors PDPR HGNC ENSG00000090857 88 0 0 55 11 16.6667 DDX19B 0 genome.wustl.edu 37 16 70363885 70363885 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 70363885 70363885 C A SNP DDX19B ENST00000288071 human ensembl 74_37 +1 known missense c.937 p.L313M 0.984 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 DDX19B HGNC ENSG00000157349 156 1 0.636943 129 20 13.4228 MARVELD3 0 genome.wustl.edu 37 16 71674764 71674764 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 71674764 71674764 C T SNP MARVELD3 ENST00000299952 human ensembl 74_37 +1 known missense c.1067 p.T356I 0.996 NULL NULL - no_errors MARVELD3 HGNC ENSG00000140832 40 0 0 43 5 10.4167 DHX38 0 genome.wustl.edu 37 16 72138432 72138432 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 72138432 72138432 G A SNP DHX38 ENST00000268482 human ensembl 74_37 +1 known silent c.2058 p.T686 0.947 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 52 0 0 31 12 27.907 ZFHX3 0 genome.wustl.edu 37 16 72831435 72831435 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 72831435 72831435 C T SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.5146 p.A1716T 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 37 0 0 29 8 21.6216 ZFHX3 0 genome.wustl.edu 37 16 72993844 72993844 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 72993844 72993844 C T SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known silent c.201 p.S67 0.286 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 17 0 0 12 5 29.4118 JMJD8 0 genome.wustl.edu 37 16 733072 733072 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 733072 733072 G A SNP JMJD8 ENST00000293882 human ensembl 74_37 -1 known missense c.805 p.P269S 1.000 pfam_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD8 HGNC ENSG00000161999 81 0 0 53 12 18.4615 TERF2IP 0 genome.wustl.edu 37 16 75690483 75690483 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 75690483 75690483 C T SNP TERF2IP ENST00000300086 human ensembl 74_37 +1 known missense c.1174 p.R392W 1.000 NULL pfam_Rap1_Myb_dom,superfamily_Homeodomain-like,superfamily_BRCT_dom - no_errors TERF2IP HGNC ENSG00000166848 115 1 0.862069 67 17 20.2381 RBFOX1 0 genome.wustl.edu 37 16 7645632 7645632 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 7645632 7645632 C T SNP RBFOX1 ENST00000547372 human ensembl 74_37 +1 known missense c.679 p.R227C 1.000 pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 111 0 0 67 34 33.6634 CDH13 0 genome.wustl.edu 37 16 83159089 83159089 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 83159089 83159089 C T SNP CDH13 ENST00000566620 human ensembl 74_37 +1 known missense c.466 p.P156S 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH13 HGNC ENSG00000140945 37 0 0 25 6 19.3548 COTL1 0 genome.wustl.edu 37 16 84623721 84623721 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 84623721 84623721 T C SNP COTL1 ENST00000262428 human ensembl 74_37 -1 known missense c.308 p.E103G 1.000 pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin - no_errors COTL1 HGNC ENSG00000103187 35 0 0 29 4 12.1212 KLHL36 0 genome.wustl.edu 37 16 84691095 84691095 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 84691095 84691095 G A SNP KLHL36 ENST00000564996 human ensembl 74_37 +1 known missense c.682 p.A228T 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL36 HGNC ENSG00000135686 17 0 0 13 4 23.5294 CRISPLD2 0 genome.wustl.edu 37 16 84906600 84906600 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 84906600 84906600 G A SNP CRISPLD2 ENST00000262424 human ensembl 74_37 +1 known silent c.984 p.S328 0.277 pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD2 HGNC ENSG00000103196 91 0 0 61 19 23.75 COX4I1 0 genome.wustl.edu 37 16 85834824 85834824 + Silent SNP A A C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 85834824 85834824 A C SNP COX4I1 ENST00000253452 human ensembl 74_37 +1 known silent c.13 p.R5 1.000 NULL pfam_Cyt_c_oxidase_su4_fam,superfamily_Cyt_c_oxidase_su4_fam,prints_Cyt_c_oxidase_su4 - no_errors COX4I1 HGNC ENSG00000131143 118 0 0 84 16 16 ZC3H18 0 genome.wustl.edu 37 16 88643556 88643556 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 88643556 88643556 C T SNP ZC3H18 ENST00000301011 human ensembl 74_37 +1 known missense c.25 p.R9W 0.979 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 30 0 0 22 3 12 TRAPPC2L 0 genome.wustl.edu 37 16 88925094 88925094 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 88925094 88925094 C T SNP TRAPPC2L ENST00000301021 human ensembl 74_37 +1 known missense c.101 p.T34I 1.000 pfam_Sedlin,pfam_Sybindin,superfamily_Longin-like_dom pfam_Sedlin,pfam_Sybindin,superfamily_Longin-like_dom - no_errors TRAPPC2L HGNC ENSG00000167515 115 0 0 69 31 31 ANKRD11 0 genome.wustl.edu 37 16 89348801 89348801 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 89348801 89348801 G A SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known silent c.4149 p.G1383 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 84 0 0 64 19 22.8916 MYH2 0 genome.wustl.edu 37 17 10447054 10447054 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 10447054 10447054 C T SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.715 p.V239M 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,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 99 0 0 57 15 20.8333 DNAH9 0 genome.wustl.edu 37 17 11837339 11837339 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 11837339 11837339 C T SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.12440 p.A4147V 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 90 0 0 41 13 24.0741 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 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 68 0 0 41 27 39.7059 MYO15A 0 genome.wustl.edu 37 17 18023246 18023246 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 18023246 18023246 G A SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.1132 p.V378I 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 104 1 0.952381 24 33 57.8947 FLII 0 genome.wustl.edu 37 17 18151293 18151293 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 18151293 18151293 C T SNP FLII ENST00000327031 human ensembl 74_37 -1 known missense c.2245 p.V749M 1.000 smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors FLII HGNC ENSG00000177731 60 0 0 54 4 6.89655 ALDH3A1 0 genome.wustl.edu 37 17 19642929 19642929 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 19642929 19642929 G T SNP ALDH3A1 ENST00000225740 human ensembl 74_37 -1 known missense c.1008 p.F336L 0.350 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3A1 HGNC ENSG00000108602 14 0 0 6 4 40 ALDH3A1 0 genome.wustl.edu 37 17 19646727 19646727 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 19646727 19646727 A G SNP ALDH3A1 ENST00000225740 human ensembl 74_37 -1 known missense c.212 p.I71T 0.821 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3A1 HGNC ENSG00000108602 64 0 0 42 9 17.6471 AKAP10 0 genome.wustl.edu 37 17 19823397 19823397 + Nonsense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 19823397 19823397 G A SNP AKAP10 ENST00000225737 human ensembl 74_37 -1 known nonsense c.1786 p.Q596* 1.000 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors AKAP10 HGNC ENSG00000108599 56 0 0 26 8 23.5294 SGSM2 0 genome.wustl.edu 37 17 2279115 2279115 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 2279115 2279115 C T SNP SGSM2 ENST00000268989 human ensembl 74_37 +1 known silent c.2430 p.A810 0.735 superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM2 HGNC ENSG00000141258 27 0 0 28 12 30 SPAG5-AS1 0 genome.wustl.edu 37 17 26943829 26943829 + RNA SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 26943829 26943829 T C SNP SPAG5-AS1 ENST00000414744 human ensembl 74_37 +1 known rna NULL NULL 0.302 - - - no_errors SPAG5-AS1 HGNC ENSG00000227543 32 0 0 10 16 61.5385 GIT1 0 genome.wustl.edu 37 17 27901773 27901773 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 27901773 27901773 C T SNP GIT1 ENST00000394869 human ensembl 74_37 -1 known missense c.2260 p.A754T 1.000 pfam_GIT1_C pfam_GIT1_C,pfam_GIT_SHD,pfam_ArfGAP,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,smart_Ankyrin_rpt,smart_GIT_SHD,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors GIT1 HGNC ENSG00000108262 35 0 0 17 7 29.1667 RAP1GAP2 0 genome.wustl.edu 37 17 2901577 2901577 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 2901577 2901577 G A SNP RAP1GAP2 ENST00000254695 human ensembl 74_37 +1 known silent c.1107 p.T369 0.930 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom - no_errors RAP1GAP2 HGNC ENSG00000132359 144 0 0 73 22 23.1579 SLFN5 0 genome.wustl.edu 37 17 33591816 33591816 + Missense_Mutation SNP A A C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 33591816 33591816 A C SNP SLFN5 ENST00000299977 human ensembl 74_37 +1 known missense c.1753 p.T585P 0.907 pfam_DUF2075,superfamily_P-loop_NTPase pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN5 HGNC ENSG00000166750 180 1 0.552486 103 23 18.254 GAS2L2 0 genome.wustl.edu 37 17 34072681 34072681 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 34072681 34072681 A G SNP GAS2L2 ENST00000254466 human ensembl 74_37 -1 known missense c.1835 p.M612T 0.904 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L2 HGNC ENSG00000132139 112 0 0 65 4 5.7971 KRTAP1-5 0 genome.wustl.edu 37 17 39182975 39182975 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 39182975 39182975 G T SNP KRTAP1-5 ENST00000361883 human ensembl 74_37 -1 known missense c.433 p.Q145K 1.000 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP1-5 HGNC ENSG00000221852 32 0 0 12 10 45.4545 STAT5B 0 genome.wustl.edu 37 17 40359649 40359649 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 40359649 40359649 G A SNP STAT5B ENST00000293328 human ensembl 74_37 -1 known silent c.2004 p.Y668 0.994 smart_SH2,pfscan_SH2 pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5B HGNC ENSG00000173757 94 0 0 53 21 28.3784 ITGA2B 0 genome.wustl.edu 37 17 42457968 42457968 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 42457968 42457968 C A SNP ITGA2B ENST00000262407 human ensembl 74_37 -1 known missense c.1439 p.R480I 1.000 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA2B HGNC ENSG00000005961 48 0 0 23 11 32.3529 NMT1 0 genome.wustl.edu 37 17 43182260 43182260 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 43182260 43182260 A G SNP NMT1 ENST00000258960 human ensembl 74_37 +1 known missense c.1366 p.M456V 1.000 pfam_MyristoylCoA_TrFase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT1 HGNC ENSG00000136448 72 0 0 32 8 20 LRRC37A2 0 genome.wustl.edu 37 17 44626102 44626102 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 44626102 44626102 C T SNP LRRC37A2 ENST00000333412 human ensembl 74_37 +1 known silent c.3597 p.N1199 0.001 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A2 HGNC ENSG00000238083 80 0 0 51 8 13.5593 HLF 0 genome.wustl.edu 37 17 53392780 53392780 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 53392780 53392780 G A SNP HLF ENST00000226067 human ensembl 74_37 +1 known missense c.644 p.R215H 1.000 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors HLF HGNC ENSG00000108924 60 0 0 21 13 38.2353 TRIM25 0 genome.wustl.edu 37 17 54981777 54981777 + Nonsense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 54981777 54981777 C A SNP TRIM25 ENST00000316881 human ensembl 74_37 -1 known nonsense c.766 p.E256* 0.939 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 149 0 0 91 24 20.8696 MSI2 0 genome.wustl.edu 37 17 55752431 55752431 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 55752431 55752431 A G SNP MSI2 ENST00000284073 human ensembl 74_37 +1 known missense c.889 p.N297D 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MSI2 HGNC ENSG00000153944 44 0 0 28 10 26.3158 DDX42 0 genome.wustl.edu 37 17 61895288 61895288 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 61895288 61895288 G A SNP DDX42 ENST00000389924 human ensembl 74_37 +1 known missense c.2347 p.G783R 0.568 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 50 0 0 34 15 30.6122 SCN4A 0 genome.wustl.edu 37 17 62020337 62020337 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 62020337 62020337 C T SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known silent c.4137 p.Q1379 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 120 0 0 75 20 21.0526 ERN1 0 genome.wustl.edu 37 17 62141446 62141446 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 62141446 62141446 C T SNP ERN1 ENST00000433197 human ensembl 74_37 -1 known silent c.987 p.K329 0.962 NULL pfam_Prot_kinase_dom,pfam_KEN_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom - no_errors ERN1 HGNC ENSG00000178607 27 0 0 10 5 33.3333 AXIN2 0 genome.wustl.edu 37 17 63526100 63526100 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 63526100 63526100 G A SNP AXIN2 ENST00000307078 human ensembl 74_37 -1 known silent c.2526 p.I842 0.950 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 AXIN2 HGNC ENSG00000168646 92 0 0 44 20 31.25 ABCA6 0 genome.wustl.edu 37 17 67125775 67125775 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 67125775 67125775 G A SNP ABCA6 ENST00000284425 human ensembl 74_37 -1 known silent c.909 p.L303 0.886 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 82 0 0 40 13 24.5283 ABCA10 0 genome.wustl.edu 37 17 67178424 67178424 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 67178424 67178424 C A SNP ABCA10 ENST00000269081 human ensembl 74_37 -1 known missense c.2639 p.R880I 0.698 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 19 0 0 8 3 27.2727 ABCA10 0 genome.wustl.edu 37 17 67221504 67221504 + RNA SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 67221504 67221504 C A SNP ABCA10 ENST00000521526 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ABCA10 HGNC ENSG00000154263 31 0 0 18 5 21.7391 KCNJ2 0 genome.wustl.edu 37 17 68171712 68171712 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 68171712 68171712 G T SNP KCNJ2 ENST00000243457 human ensembl 74_37 +1 known missense c.532 p.A178S 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.1 - no_errors KCNJ2 HGNC ENSG00000123700 110 0 0 44 17 27.8689 CD300LF 0 genome.wustl.edu 37 17 72700850 72700850 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 72700850 72700850 A G SNP CD300LF ENST00000326165 human ensembl 74_37 -1 known missense c.149 p.L50S 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300LF HGNC ENSG00000186074 139 0 0 85 27 24.1071 EVPL 0 genome.wustl.edu 37 17 74004745 74004745 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 74004745 74004745 G A SNP EVPL ENST00000301607 human ensembl 74_37 -1 known missense c.4541 p.S1514L 0.768 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 83 0 0 42 22 34.375 ST6GALNAC1 0 genome.wustl.edu 37 17 74625570 74625570 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 74625570 74625570 C T SNP ST6GALNAC1 ENST00000156626 human ensembl 74_37 -1 known missense c.355 p.A119T 0.000 NULL pfam_Glyco_trans_29 - no_errors ST6GALNAC1 HGNC ENSG00000070526 77 0 0 41 14 25.4545 ENPP7 0 genome.wustl.edu 37 17 77705066 77705066 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 77705066 77705066 C T SNP ENPP7 ENST00000328313 human ensembl 74_37 +1 known silent c.165 p.D55 0.889 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core - no_errors ENPP7 HGNC ENSG00000182156 37 0 0 8 8 50 RPTOR 0 genome.wustl.edu 37 17 78865556 78865556 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 78865556 78865556 T C SNP RPTOR ENST00000306801 human ensembl 74_37 +1 known missense c.2020 p.Y674H 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 145 0 0 73 30 29.1262 RPTOR 0 genome.wustl.edu 37 17 78882649 78882649 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 78882649 78882649 G T SNP RPTOR ENST00000306801 human ensembl 74_37 +1 known missense c.2440 p.V814F 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 198 0 0 116 16 12.1212 RPTOR 0 genome.wustl.edu 37 17 78938131 78938131 + RNA SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 78938131 78938131 C T SNP RPTOR ENST00000575542 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors RPTOR HGNC ENSG00000141564 26 0 0 16 7 30.4348 BAHCC1 0 genome.wustl.edu 37 17 79430712 79430712 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 79430712 79430712 C T SNP BAHCC1 ENST00000307745 human ensembl 74_37 +1 known missense c.7696 p.R2566C 0.986 pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors RP11-1055B8.7 Clone_based_vega_gene ENSG00000171282 25 0 0 20 8 28.5714 LRRC45 0 genome.wustl.edu 37 17 79984832 79984832 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 79984832 79984832 G A SNP LRRC45 ENST00000306688 human ensembl 74_37 +1 known missense c.719 p.R240H 0.999 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC45 HGNC ENSG00000169683 12 0 0 8 5 38.4615 UTS2R 0 genome.wustl.edu 37 17 80332642 80332642 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 80332642 80332642 C T SNP UTS2R ENST00000313135 human ensembl 74_37 +1 known missense c.442 p.R148C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Urot_II_rcpt,prints_GPCR_Rhodpsn - no_errors UTS2R HGNC ENSG00000181408 11 0 0 4 8 66.6667 FOXK2 0 genome.wustl.edu 37 17 80529613 80529613 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 80529613 80529613 C T SNP FOXK2 ENST00000335255 human ensembl 74_37 +1 known missense c.776 p.P259L 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_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 FOXK2 HGNC ENSG00000141568 40 0 0 17 10 37.037 CIDEA 0 genome.wustl.edu 37 18 12274164 12274164 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 18 12274164 12274164 A G SNP CIDEA ENST00000320477 human ensembl 74_37 +1 known missense c.403 p.R135G 1.000 NULL pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom - no_errors CIDEA HGNC ENSG00000176194 97 0 0 67 23 25.5556 TUBB6 0 genome.wustl.edu 37 18 12325150 12325150 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 18 12325150 12325150 G A SNP TUBB6 ENST00000317702 human ensembl 74_37 +1 known missense c.362 p.R121Q 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin,prints_Gamma_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin - no_errors TUBB6 HGNC ENSG00000176014 51 0 0 36 17 32.0755 DSG3 0 genome.wustl.edu 37 18 29044085 29044085 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 18 29044085 29044085 T C SNP DSG3 ENST00000257189 human ensembl 74_37 +1 known silent c.1011 p.Y337 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG3 HGNC ENSG00000134757 76 0 0 59 8 11.9403 SETBP1 0 genome.wustl.edu 37 18 42281525 42281525 + Missense_Mutation SNP A A C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 18 42281525 42281525 A C SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.214 p.N72H 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 98 0 0 77 19 19.7917 SLC14A2 0 genome.wustl.edu 37 18 43253755 43253755 + Nonsense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 18 43253755 43253755 C T SNP SLC14A2 ENST00000255226 human ensembl 74_37 +1 known nonsense c.2485 p.Q829* 1.000 pfam_Urea_transporter pfam_Urea_transporter - no_errors SLC14A2 HGNC ENSG00000132874 55 0 0 34 13 27.6596 TCEB3B 0 genome.wustl.edu 37 18 44561289 44561289 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 18 44561289 44561289 G T SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known missense c.347 p.A116E 0.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 64 0 0 45 10 18.1818 HDHD2 0 genome.wustl.edu 37 18 44662713 44662713 + Missense_Mutation SNP T T A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 18 44662713 44662713 T A SNP HDHD2 ENST00000300605 human ensembl 74_37 -1 known missense c.98 p.K33I 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA - no_errors HDHD2 HGNC ENSG00000167220 52 0 0 67 4 5.6338 CXXC1 0 genome.wustl.edu 37 18 47811481 47811481 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 18 47811481 47811481 T C SNP CXXC1 ENST00000412036 human ensembl 74_37 -1 known missense c.803 p.E268G 1.000 NULL pfam_CpG-bd_C,pfam_Znf_CXXC,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors CXXC1 HGNC ENSG00000154832 56 0 0 42 27 39.1304 MAPK4 0 genome.wustl.edu 37 18 48241512 48241512 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 18 48241512 48241512 A G SNP MAPK4 ENST00000400384 human ensembl 74_37 +1 known missense c.610 p.N204D 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,prints_MAPK_ERK3/4 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 MAPK4 HGNC ENSG00000141639 52 0 0 58 15 20.5479 SMAD4 0 genome.wustl.edu 37 18 48604840 48604840 + RNA SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 18 48604840 48604840 T C SNP SMAD4 ENST00000586253 human ensembl 74_37 +1 known rna NULL NULL 0.992 - - - no_errors SMAD4 HGNC ENSG00000141646 57 0 0 42 29 40.8451 MEX3C 0 genome.wustl.edu 37 18 48703458 48703458 + Missense_Mutation SNP T T G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 18 48703458 48703458 T G SNP MEX3C ENST00000406189 human ensembl 74_37 -1 known missense c.1243 p.S415R 0.994 NULL pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3C HGNC ENSG00000176624 55 0 0 33 4 10.8108 EPB41L3 0 genome.wustl.edu 37 18 5396200 5396200 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 18 5396200 5396200 C A SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.2973 p.Q991H 1.000 pirsf_Band_41_protein,pfam_Band_4.1_C 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 226 0 0 156 81 34.1772 FECH 0 genome.wustl.edu 37 18 55233706 55233706 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 18 55233706 55233706 A G SNP FECH ENST00000382873 human ensembl 74_37 -1 known missense c.589 p.Y197H 1.000 pfam_Ferrochelatase,tigrfam_Ferrochelatase pfam_Ferrochelatase,tigrfam_Ferrochelatase - no_errors FECH HGNC ENSG00000066926 80 0 0 51 33 39.2857 ATP8B1 0 genome.wustl.edu 37 18 55335683 55335683 + Missense_Mutation SNP C C G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 18 55335683 55335683 C G SNP ATP8B1 ENST00000283684 human ensembl 74_37 -1 known missense c.2187 p.W729C 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,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 ATP8B1 HGNC ENSG00000081923 63 0 0 44 20 31.25 CDH20 0 genome.wustl.edu 37 18 59221533 59221533 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 18 59221533 59221533 G A SNP CDH20 ENST00000262717 human ensembl 74_37 +1 known missense c.2011 p.G671S 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC ENSG00000101542 62 0 0 51 56 52.3364 SERPINB5 0 genome.wustl.edu 37 18 61154235 61154235 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 18 61154235 61154235 G A SNP SERPINB5 ENST00000382771 human ensembl 74_37 +1 known silent c.225 p.S75 0.553 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin - no_errors SERPINB5 HGNC ENSG00000206075 90 0 0 61 28 31.4607 SERPINB13 0 genome.wustl.edu 37 18 61260166 61260166 + Nonsense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 18 61260166 61260166 C T SNP SERPINB13 ENST00000344731 human ensembl 74_37 +1 known nonsense c.433 p.R145* 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB13 HGNC ENSG00000197641 116 0 0 93 20 17.6991 RTTN 0 genome.wustl.edu 37 18 67806936 67806936 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 18 67806936 67806936 A G SNP RTTN ENST00000255674 human ensembl 74_37 -1 known missense c.2687 p.V896A 0.001 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 169 0 0 96 61 38.8535 CNDP2 0 genome.wustl.edu 37 18 72178084 72178084 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 18 72178084 72178084 A G SNP CNDP2 ENST00000324262 human ensembl 74_37 +1 known missense c.493 p.M165V 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 78 0 0 65 27 29.3478 TSHZ1 0 genome.wustl.edu 37 18 72998529 72998529 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 18 72998529 72998529 C T SNP TSHZ1 ENST00000580243 human ensembl 74_37 +1 known silent c.1167 p.Y389 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ENSG00000179981 55 0 0 45 15 25 TSHZ1 0 genome.wustl.edu 37 18 73000349 73000349 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 18 73000349 73000349 G A SNP TSHZ1 ENST00000580243 human ensembl 74_37 +1 known missense c.2987 p.S996N 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ENSG00000179981 83 0 0 44 26 37.1429 ZNF236 0 genome.wustl.edu 37 18 74563868 74563868 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 18 74563868 74563868 G A SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known silent c.330 p.A110 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 74 0 0 51 7 12.069 CTDP1 0 genome.wustl.edu 37 18 77475147 77475147 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 18 77475147 77475147 C T SNP CTDP1 ENST00000299543 human ensembl 74_37 +1 known silent c.1687 p.L563 1.000 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 16 0 0 18 10 35.7143 ADNP2 0 genome.wustl.edu 37 18 77894088 77894088 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 18 77894088 77894088 G A SNP ADNP2 ENST00000262198 human ensembl 74_37 +1 known silent c.792 p.T264 0.984 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 74 0 0 50 26 34.2105 ADNP2 0 genome.wustl.edu 37 18 77894778 77894778 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 18 77894778 77894778 G A SNP ADNP2 ENST00000262198 human ensembl 74_37 +1 known silent c.1482 p.P494 0.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 65 0 0 52 17 24.6377 ZGLP1 0 genome.wustl.edu 37 19 10419251 10419251 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 10419251 10419251 C T SNP ZGLP1 ENST00000403903 human ensembl 74_37 -1 known missense c.107 p.R36H 0.000 NULL pfam_Znf_GATA,smart_Znf_GATA,pfscan_Znf_GATA,prints_Znf_GATA - no_errors ZGLP1 HGNC ENSG00000220201 16 0 0 16 4 20 CDC37 0 genome.wustl.edu 37 19 10506695 10506695 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 10506695 10506695 C T SNP CDC37 ENST00000222005 human ensembl 74_37 -1 known missense c.287 p.R96Q 1.000 pfam_Cdc37_N_dom pfam_Cdc37_Hsp90-bd,pfam_Cdc37_N_dom,pfam_Cdc37_C - no_errors CDC37 HGNC ENSG00000105401 80 0 0 41 15 26.7857 KEAP1 0 genome.wustl.edu 37 19 10610092 10610092 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 10610092 10610092 G A SNP KEAP1 ENST00000171111 human ensembl 74_37 -1 known silent c.618 p.Y206 0.997 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 KEAP1 HGNC ENSG00000079999 17 0 0 14 4 22.2222 ELAVL3 0 genome.wustl.edu 37 19 11565601 11565601 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 11565601 11565601 C T SNP ELAVL3 ENST00000359227 human ensembl 74_37 -1 known missense c.844 p.A282T 1.000 tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL3 HGNC ENSG00000196361 36 0 0 29 9 23.6842 ELOF1 0 genome.wustl.edu 37 19 11664600 11664600 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 11664600 11664600 G A SNP ELOF1 ENST00000589171 human ensembl 74_37 -1 putative missense c.218 p.T73I 1.000 NULL pfam_Elf1 - no_errors ELOF1 HGNC ENSG00000130165 63 0 0 31 14 31.1111 ZNF564 0 genome.wustl.edu 37 19 12638137 12638137 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 12638137 12638137 A G SNP ZNF564 ENST00000339282 human ensembl 74_37 -1 known missense c.785 p.F262S 0.111 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 ZNF564 HGNC ENSG00000249709 76 0 0 48 18 27.2727 PKN1 0 genome.wustl.edu 37 19 14574680 14574680 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 14574680 14574680 C T SNP PKN1 ENST00000342216 human ensembl 74_37 +1 known silent c.1554 p.V518 0.069 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 PKN1 HGNC ENSG00000123143 28 0 0 15 9 37.5 HSH2D 0 genome.wustl.edu 37 19 16268222 16268222 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 16268222 16268222 G A SNP HSH2D ENST00000253680 human ensembl 74_37 +1 known missense c.676 p.A226T 0.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors HSH2D HGNC ENSG00000196684 49 0 0 29 9 23.6842 NWD1 0 genome.wustl.edu 37 19 16918704 16918704 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 16918704 16918704 C T SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known silent c.4044 p.P1348 0.091 superfamily_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 146 0 0 67 25 27.1739 MYO9B 0 genome.wustl.edu 37 19 17298808 17298808 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 17298808 17298808 C T SNP MYO9B ENST00000594824 human ensembl 74_37 +1 known missense c.2642 p.T881I 0.998 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 13 0 0 10 5 33.3333 GTPBP3 0 genome.wustl.edu 37 19 17452410 17452410 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 17452410 17452410 G T SNP GTPBP3 ENST00000358792 human ensembl 74_37 +1 known missense c.1473 p.E491D 1.000 NULL pfam_GTP-bd_TrmE_N,pfam_GTP_binding_domain,superfamily_P-loop_NTPase,tigrfam_Small_GTP-bd_dom - no_errors GTPBP3 HGNC ENSG00000130299 28 0 0 24 6 20 PGPEP1 0 genome.wustl.edu 37 19 18468217 18468217 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 18468217 18468217 G A SNP PGPEP1 ENST00000269919 human ensembl 74_37 +1 known missense c.229 p.G77S 0.998 pfam_Peptidase_C15,superfamily_Peptidase_C15-like,pirsf_Peptidase_C15,prints_Peptidase_C15 pfam_Peptidase_C15,superfamily_Peptidase_C15-like,pirsf_Peptidase_C15,prints_Peptidase_C15 - no_errors PGPEP1 HGNC ENSG00000130517 14 0 0 16 3 15.7895 LPAR2 0 genome.wustl.edu 37 19 19735185 19735185 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 19735185 19735185 G A SNP LPAR2 ENST00000407877 human ensembl 74_37 -1 known silent c.936 p.C312 0.020 prints_LPA_rcpt,prints_Melcrt_ACTH_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG4,prints_GPCR_Rhodpsn,prints_LPA_rcpt,prints_LPA_rcpt_EDG2,prints_Melcrt_ACTH_rcpt,prints_S1P_rcpt - no_errors LPAR2 HGNC ENSG00000064547 56 0 0 28 10 26.3158 GMIP 0 genome.wustl.edu 37 19 19747587 19747587 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 19747587 19747587 G A SNP GMIP ENST00000203556 human ensembl 74_37 -1 known missense c.1256 p.P419L 0.001 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors GMIP HGNC ENSG00000089639 31 0 0 19 6 24 ZNF506 0 genome.wustl.edu 37 19 19906095 19906095 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 19906095 19906095 A G SNP ZNF506 ENST00000443905 human ensembl 74_37 -1 known missense c.601 p.Y201H 0.838 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 ZNF506 HGNC ENSG00000081665 35 0 0 32 3 8.57143 ZNF708 0 genome.wustl.edu 37 19 21477541 21477541 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 21477541 21477541 G A SNP ZNF708 ENST00000356929 human ensembl 74_37 -1 known missense c.227 p.A76V 0.231 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 ZNF708 HGNC ENSG00000182141 52 0 0 21 8 27.5862 LOC641367 0 genome.wustl.edu 37 19 21934394 21934394 + RNA SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 21934394 21934394 G A SNP LOC641367 ENST00000596710 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-420K14.6 Clone_based_vega_gene ENSG00000269845 40 0 0 29 5 14.7059 JSRP1 0 genome.wustl.edu 37 19 2254215 2254215 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 2254215 2254215 G A SNP JSRP1 ENST00000300961 human ensembl 74_37 -1 known missense c.233 p.T78M 0.005 NULL NULL - no_errors JSRP1 HGNC ENSG00000167476 94 0 0 68 21 23.5955 RN7SL860P 0 genome.wustl.edu 37 19 22784336 22784336 + RNA SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 22784336 22784336 G A SNP RN7SL860P ENST00000473738 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors RN7SL860P HGNC ENSG00000240713 11 0 0 2 3 60 SLC39A3 0 genome.wustl.edu 37 19 2737214 2737214 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 2737214 2737214 G A SNP SLC39A3 ENST00000269740 human ensembl 74_37 -1 known silent c.42 p.G14 0.559 pfam_ZIP pfam_ZIP - no_errors SLC39A3 HGNC ENSG00000141873 29 0 0 9 7 43.75 ZNF554 0 genome.wustl.edu 37 19 2833886 2833886 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 2833886 2833886 C T SNP ZNF554 ENST00000317243 human ensembl 74_37 +1 known missense c.653 p.A218V 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 ZNF554 HGNC ENSG00000172006 80 0 0 38 13 25.4902 ZNF556 0 genome.wustl.edu 37 19 2877814 2877814 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 2877814 2877814 G A SNP ZNF556 ENST00000307635 human ensembl 74_37 +1 known silent c.858 p.P286 0.001 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF556 HGNC ENSG00000172000 77 0 0 43 21 32.8125 ZNF57 0 genome.wustl.edu 37 19 2917901 2917901 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 2917901 2917901 A G SNP ZNF57 ENST00000306908 human ensembl 74_37 +1 known missense c.1282 p.T428A 0.030 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 ZNF57 HGNC ENSG00000171970 100 0 0 57 4 6.55738 ZNF536 0 genome.wustl.edu 37 19 31039376 31039376 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 31039376 31039376 C T SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known silent c.2850 p.H950 0.076 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 236 1 0.421941 115 45 28.125 ZNF536 0 genome.wustl.edu 37 19 31039865 31039865 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 31039865 31039865 G T SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.3339 p.K1113N 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 45 0 0 22 10 31.25 LSM14A 0 genome.wustl.edu 37 19 34687605 34687605 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 34687605 34687605 C T SNP LSM14A ENST00000433627 human ensembl 74_37 +1 known missense c.352 p.P118S 1.000 NULL pfam_FDF_dom,superfamily_LSM_dom - no_errors LSM14A HGNC ENSG00000257103 120 0 0 51 20 28.169 ZNF302 0 genome.wustl.edu 37 19 35174067 35174067 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 35174067 35174067 C T SNP ZNF302 ENST00000423823 human ensembl 74_37 +1 known silent c.138 p.S46 0.769 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 ZNF302 HGNC ENSG00000089335 83 0 0 43 12 21.8182 ATP4A 0 genome.wustl.edu 37 19 36051500 36051500 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 36051500 36051500 G A SNP ATP4A ENST00000262623 human ensembl 74_37 -1 known silent c.552 p.R184 0.775 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 26 0 0 20 6 23.0769 ZNF567 0 genome.wustl.edu 37 19 37210721 37210721 + Nonsense_Mutation SNP T T A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 37210721 37210721 T A SNP ZNF567 ENST00000536254 human ensembl 74_37 +1 known nonsense c.1095 p.Y365* 0.375 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 ZNF567 HGNC ENSG00000189042 79 0 0 28 12 30 ZNF607 0 genome.wustl.edu 37 19 38189172 38189172 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 38189172 38189172 T C SNP ZNF607 ENST00000355202 human ensembl 74_37 -1 known silent c.1860 p.K620 0.002 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF607 HGNC ENSG00000198182 72 0 0 25 12 32.4324 SIPA1L3 0 genome.wustl.edu 37 19 38572895 38572895 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 38572895 38572895 C T SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known silent c.690 p.P230 0.004 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 22 0 0 21 9 30 SIPA1L3 0 genome.wustl.edu 37 19 38573583 38573583 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 38573583 38573583 G A SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known missense c.1378 p.A460T 0.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 19 0 0 7 7 50 DPF1 0 genome.wustl.edu 37 19 38706879 38706879 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 38706879 38706879 T C SNP DPF1 ENST00000355526 human ensembl 74_37 -1 known missense c.880 p.T294A 1.000 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_C2H2-like,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2 - no_errors DPF1 HGNC ENSG00000011332 30 0 0 11 8 42.1053 CAPN12 0 genome.wustl.edu 37 19 39221806 39221806 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 39221806 39221806 C T SNP CAPN12 ENST00000328867 human ensembl 74_37 -1 known missense c.2015 p.R672H 0.981 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 CAPN12 HGNC ENSG00000182472 19 0 0 12 5 29.4118 NFKBIB 0 genome.wustl.edu 37 19 39399383 39399383 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 39399383 39399383 G A SNP NFKBIB ENST00000313582 human ensembl 74_37 +1 known missense c.982 p.D328N 0.999 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 51 0 0 30 7 18.9189 IFNL3 0 genome.wustl.edu 37 19 39735101 39735101 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 39735101 39735101 G A SNP IFNL3 ENST00000413851 human ensembl 74_37 -1 known missense c.214 p.R72C 0.001 NULL NULL - no_errors IFNL3 HGNC ENSG00000197110 10 0 0 9 4 30.7692 SAMD4B 0 genome.wustl.edu 37 19 39860437 39860437 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 39860437 39860437 C T SNP SAMD4B ENST00000314471 human ensembl 74_37 +1 known silent c.339 p.I113 0.994 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4B HGNC ENSG00000179134 42 0 0 20 9 31.0345 FCGBP 0 genome.wustl.edu 37 19 40368706 40368706 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 40368706 40368706 G A SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known silent c.12642 p.C4214 0.995 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 274 2 0.724638 176 34 16.1905 ZNF546 0 genome.wustl.edu 37 19 40520949 40520949 + Missense_Mutation SNP G G C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 40520949 40520949 G C SNP ZNF546 ENST00000347077 human ensembl 74_37 +1 known missense c.1772 p.S591T 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 ZNF546 HGNC ENSG00000187187 66 0 0 28 4 12.5 SNRPA 0 genome.wustl.edu 37 19 41265406 41265406 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 41265406 41265406 G A SNP SNRPA ENST00000243563 human ensembl 74_37 +1 known missense c.317 p.R106H 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SNRPA HGNC ENSG00000077312 47 0 0 26 15 36.5854 CREB3L3 0 genome.wustl.edu 37 19 4164623 4164623 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 4164623 4164623 C T SNP CREB3L3 ENST00000078445 human ensembl 74_37 +1 known silent c.700 p.L234 1.000 superfamily_TF_DNA-bd pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L3 HGNC ENSG00000060566 29 0 0 19 3 13.6364 CCDC97 0 genome.wustl.edu 37 19 41822570 41822570 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 41822570 41822570 C T SNP CCDC97 ENST00000269967 human ensembl 74_37 +1 known missense c.328 p.R110C 1.000 NULL pfam_DUF2052_coiled-coil - no_errors CCDC97 HGNC ENSG00000142039 27 0 0 9 3 25 MEGF8 0 genome.wustl.edu 37 19 42839311 42839311 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 42839311 42839311 G A SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known missense c.683 p.R228H 0.983 NULL pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 15 0 0 16 7 30.4348 TMIGD2 0 genome.wustl.edu 37 19 4292680 4292680 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 4292680 4292680 G A SNP TMIGD2 ENST00000301272 human ensembl 74_37 -1 known silent c.765 p.P255 0.000 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors TMIGD2 HGNC ENSG00000167664 48 0 0 23 15 39.4737 CXCL17 0 genome.wustl.edu 37 19 42937210 42937210 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 42937210 42937210 C T SNP CXCL17 ENST00000601181 human ensembl 74_37 -1 known silent c.180 p.P60 0.001 NULL NULL - no_errors CXCL17 HGNC ENSG00000189377 57 0 0 20 12 37.5 CEACAM1 0 genome.wustl.edu 37 19 43015774 43015774 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 43015774 43015774 G A SNP CEACAM1 ENST00000161559 human ensembl 74_37 -1 known silent c.1383 p.S461 0.476 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM1 HGNC ENSG00000079385 69 0 0 42 10 19.2308 PSG5 0 genome.wustl.edu 37 19 43690566 43690566 + RNA SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 43690566 43690566 C T SNP PSG5 ENST00000401992 human ensembl 74_37 -1 known rna NULL NULL 0.312 - - - no_errors PSG5 HGNC ENSG00000204941 80 0 0 44 21 32.3077 ZNF227 0 genome.wustl.edu 37 19 44739572 44739572 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 44739572 44739572 G T SNP ZNF227 ENST00000313040 human ensembl 74_37 +1 known missense c.989 p.G330V 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 ZNF227 HGNC ENSG00000131115 88 0 0 33 18 35.2941 ZNF296 0 genome.wustl.edu 37 19 45574990 45574990 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 45574990 45574990 G A SNP ZNF296 ENST00000303809 human ensembl 74_37 -1 known missense c.1297 p.R433C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF296 HGNC ENSG00000170684 39 0 0 27 11 28.9474 FOSB 0 genome.wustl.edu 37 19 45974040 45974040 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 45974040 45974040 G A SNP FOSB ENST00000353609 human ensembl 74_37 +1 known missense c.280 p.V94I 0.854 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSB HGNC ENSG00000125740 56 0 0 52 14 21.2121 KPTN 0 genome.wustl.edu 37 19 47984241 47984241 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 47984241 47984241 C T SNP KPTN ENST00000338134 human ensembl 74_37 -1 known missense c.499 p.D167N 1.000 NULL NULL - no_errors KPTN HGNC ENSG00000118162 14 0 0 8 5 38.4615 CRX 0 genome.wustl.edu 37 19 48343102 48343102 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 48343102 48343102 G A SNP CRX ENST00000221996 human ensembl 74_37 +1 known missense c.778 p.A260T 0.899 NULL pfam_Homeobox_dom,pfam_Otx_TF_C,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors CRX HGNC ENSG00000105392 126 1 0.787402 62 24 27.907 TMEM143 0 genome.wustl.edu 37 19 48845798 48845798 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 48845798 48845798 G A SNP TMEM143 ENST00000293261 human ensembl 74_37 -1 known missense c.964 p.R322W 1.000 pfam_DUF3754 pfam_DUF3754 - no_errors TMEM143 HGNC ENSG00000161558 13 0 0 3 4 57.1429 TEAD2 0 genome.wustl.edu 37 19 49863216 49863216 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 49863216 49863216 C T SNP TEAD2 ENST00000311227 human ensembl 74_37 -1 known silent c.117 p.P39 0.030 pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD2 HGNC ENSG00000074219 30 0 0 11 9 45 SIGLEC9 0 genome.wustl.edu 37 19 51631709 51631709 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 51631709 51631709 C T SNP SIGLEC9 ENST00000440804 human ensembl 74_37 +1 known missense c.1145 p.A382V 0.000 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors SIGLEC9 HGNC ENSG00000129450 71 0 0 37 16 30.1887 ZNF610 0 genome.wustl.edu 37 19 52857623 52857623 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 52857623 52857623 G A SNP ZNF610 ENST00000321287 human ensembl 74_37 +1 known missense c.310 p.V104M 0.044 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 ZNF610 HGNC ENSG00000167554 49 0 0 28 7 20 ZNF600 0 genome.wustl.edu 37 19 53269380 53269380 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 53269380 53269380 G A SNP ZNF600 ENST00000338230 human ensembl 74_37 -1 known silent c.1629 p.C543 0.014 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF600 HGNC ENSG00000189190 269 0 0 115 45 28.125 CACNG6 0 genome.wustl.edu 37 19 54515275 54515275 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 54515275 54515275 G A SNP CACNG6 ENST00000252729 human ensembl 74_37 +1 known silent c.615 p.P205 0.002 NULL prints_VDCC_g6su,prints_VDCC_gsu,prints_Claudin - no_errors CACNG6 HGNC ENSG00000130433 21 0 0 12 9 42.8571 LILRP2 0 genome.wustl.edu 37 19 55221587 55221587 + RNA SNP T T G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 55221587 55221587 T G SNP LILRP2 ENST00000413439 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors LILRP2 HGNC ENSG00000170858 33 0 0 28 7 20 NLRP7 0 genome.wustl.edu 37 19 55450708 55450708 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 55450708 55450708 G A SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known silent c.1563 p.H521 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 NLRP7 HGNC ENSG00000167634 75 0 0 31 11 26.1905 ZNF628 0 genome.wustl.edu 37 19 55994085 55994085 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 55994085 55994085 G A SNP ZNF628 ENST00000598519 human ensembl 74_37 +1 known missense c.1525 p.A509T 0.992 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF628 HGNC ENSG00000197483 18 0 0 13 4 23.5294 LONP1 0 genome.wustl.edu 37 19 5693672 5693672 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 5693672 5693672 A G SNP LONP1 ENST00000360614 human ensembl 74_37 -1 known missense c.2429 p.M810T 1.000 pfam_Pept_S16_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_Lon_bac/euk-typ pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ - no_errors LONP1 HGNC ENSG00000196365 28 0 0 18 6 25 SLC25A23 0 genome.wustl.edu 37 19 6452348 6452348 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 6452348 6452348 G A SNP SLC25A23 ENST00000264088 human ensembl 74_37 -1 known missense c.1187 p.A396V 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A23 HGNC ENSG00000125648 20 0 0 7 3 30 SH2D3A 0 genome.wustl.edu 37 19 6760727 6760727 + Missense_Mutation SNP A A C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 6760727 6760727 A C SNP SH2D3A ENST00000245908 human ensembl 74_37 -1 known missense c.341 p.V114G 0.954 pfscan_SH2 pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,prints_SH2 - no_errors SH2D3A HGNC ENSG00000125731 29 0 0 13 3 18.75 XAB2 0 genome.wustl.edu 37 19 7685435 7685435 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 7685435 7685435 G A SNP XAB2 ENST00000358368 human ensembl 74_37 -1 known missense c.2092 p.R698W 0.836 smart_HAT smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC ENSG00000076924 18 0 0 16 8 33.3333 CD320 0 genome.wustl.edu 37 19 8367483 8367483 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 8367483 8367483 A G SNP CD320 ENST00000301458 human ensembl 74_37 -1 known missense c.713 p.L238P 0.115 NULL pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors CD320 HGNC ENSG00000167775 36 0 0 32 5 13.5135 CFD 0 genome.wustl.edu 37 19 861776 861776 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 861776 861776 A G SNP CFD ENST00000327726 human ensembl 74_37 +1 known silent c.435 p.G145 0.988 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors CFD HGNC ENSG00000197766 8 0 0 12 3 20 ZNF558 0 genome.wustl.edu 37 19 8932736 8932736 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 8932736 8932736 T C SNP ZNF558 ENST00000301475 human ensembl 74_37 -1 known silent c.63 p.Q21 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 92 0 0 72 19 20.8791 MUC16 0 genome.wustl.edu 37 19 9087343 9087343 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 9087343 9087343 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.4472 p.P1491L 0.005 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 240 0 0 115 39 25.3247 ZNF266 0 genome.wustl.edu 37 19 9524026 9524026 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 9524026 9524026 G A SNP ZNF266 ENST00000361151 human ensembl 74_37 -1 known silent c.1575 p.C525 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF266 HGNC ENSG00000174652 66 0 0 32 18 36 OLFM2 0 genome.wustl.edu 37 19 9968487 9968487 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 9968487 9968487 G A SNP OLFM2 ENST00000264833 human ensembl 74_37 -1 known silent c.264 p.R88 0.832 pfam_Noelin-1 pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM2 HGNC ENSG00000105088 40 0 0 14 14 50 GRHL1 0 genome.wustl.edu 37 2 10140759 10140759 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 10140759 10140759 A G SNP GRHL1 ENST00000324907 human ensembl 74_37 +1 known missense c.1781 p.Y594C 1.000 NULL pfam_CP2 - no_errors GRHL1 HGNC ENSG00000134317 248 0 0 166 50 23.1481 LIMS1 0 genome.wustl.edu 37 2 109300406 109300406 + Missense_Mutation SNP A A C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 109300406 109300406 A C SNP LIMS1 ENST00000542845 human ensembl 74_37 +1 known missense c.1115 p.E372A 1.000 pirsf_PINCH,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pirsf_PINCH,pfscan_Znf_LIM - no_errors LIMS1 HGNC ENSG00000169756 46 0 0 32 4 11.1111 GREB1 0 genome.wustl.edu 37 2 11750919 11750919 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 11750919 11750919 G A SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known silent c.2772 p.T924 0.928 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 39 0 0 27 11 28.9474 PTPN4 0 genome.wustl.edu 37 2 120677688 120677688 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 120677688 120677688 A G SNP PTPN4 ENST00000263708 human ensembl 74_37 +1 known missense c.872 p.Y291C 1.000 pfam_FERM_PH-like_C,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain 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 87 0 0 37 23 38.3333 PTPN18 0 genome.wustl.edu 37 2 131116512 131116512 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 131116512 131116512 A G SNP PTPN18 ENST00000175756 human ensembl 74_37 +1 known missense c.166 p.N56D 0.120 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt 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,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN18 HGNC ENSG00000072135 41 0 0 36 13 26.5306 GPR39 0 genome.wustl.edu 37 2 133402818 133402818 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 133402818 133402818 A G SNP GPR39 ENST00000329321 human ensembl 74_37 +1 known missense c.1001 p.Y334C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR39 HGNC ENSG00000183840 73 0 0 17 39 69.6429 LRP1B 0 genome.wustl.edu 37 2 141816614 141816614 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 141816614 141816614 G T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.1246 p.L416I 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_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 82 0 0 23 29 55.7692 FMNL2 0 genome.wustl.edu 37 2 153399319 153399319 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 153399319 153399319 G A SNP FMNL2 ENST00000288670 human ensembl 74_37 +1 known missense c.268 p.A90T 1.000 pfam_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour - no_errors FMNL2 HGNC ENSG00000157827 78 0 0 38 11 22.449 TANC1 0 genome.wustl.edu 37 2 160027037 160027037 + Nonsense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 160027037 160027037 C T SNP TANC1 ENST00000263635 human ensembl 74_37 +1 known nonsense c.1072 p.R358* 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 59 0 0 21 30 58.8235 CSRNP3 0 genome.wustl.edu 37 2 166535659 166535659 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 166535659 166535659 A G SNP CSRNP3 ENST00000314499 human ensembl 74_37 +1 known missense c.1154 p.D385G 0.101 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP3 HGNC ENSG00000178662 58 0 0 43 10 18.8679 GALNT3 0 genome.wustl.edu 37 2 166605292 166605292 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 166605292 166605292 T C SNP GALNT3 ENST00000392701 human ensembl 74_37 -1 known silent c.1901 p.*634 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT3 HGNC ENSG00000115339 26 0 0 19 2 9.52381 XIRP2 0 genome.wustl.edu 37 2 168102239 168102239 + Missense_Mutation SNP A A C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 168102239 168102239 A C SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.4337 p.K1446T 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 68 0 0 30 9 23.0769 XIRP2 0 genome.wustl.edu 37 2 168102522 168102522 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 168102522 168102522 T C SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known silent c.4620 p.T1540 0.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 93 0 0 29 37 56.0606 MYO3B 0 genome.wustl.edu 37 2 171376034 171376034 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 171376034 171376034 G A SNP MYO3B ENST00000334231 human ensembl 74_37 +1 known missense c.3586 p.V1196I 0.000 NULL 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 66 0 0 42 5 10.6383 RAPGEF4 0 genome.wustl.edu 37 2 173852994 173852994 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 173852994 173852994 C T SNP RAPGEF4 ENST00000397081 human ensembl 74_37 +1 known silent c.1221 p.Y407 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF4 HGNC ENSG00000091428 67 0 0 17 34 66.6667 CDCA7 0 genome.wustl.edu 37 2 174228609 174228609 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 174228609 174228609 C A SNP CDCA7 ENST00000306721 human ensembl 74_37 +1 known missense c.685 p.P229T 0.712 NULL pfam_Znf-4CXXC_R1 - no_errors CDCA7 HGNC ENSG00000144354 137 0 0 58 59 50.4274 HOXD11 0 genome.wustl.edu 37 2 176972255 176972255 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 176972255 176972255 G A SNP HOXD11 ENST00000249504 human ensembl 74_37 +1 known missense c.172 p.V58M 1.000 pfam_DUF3528 pfam_DUF3528,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD11 HGNC ENSG00000128713 18 0 0 11 13 54.1667 TTC30A 0 genome.wustl.edu 37 2 178481542 178481542 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 178481542 178481542 T C SNP TTC30A ENST00000355689 human ensembl 74_37 -1 known missense c.1888 p.I630V 1.000 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30A HGNC ENSG00000197557 137 0 0 67 53 44.1667 TTN 0 genome.wustl.edu 37 2 179396464 179396464 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 179396464 179396464 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.97174 p.R32392C 0.681 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 105 0 0 65 25 27.7778 TTN 0 genome.wustl.edu 37 2 179474047 179474047 + Silent SNP T T A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 179474047 179474047 T A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.44286 p.G14762 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 55 0 0 20 9 31.0345 TTN 0 genome.wustl.edu 37 2 179594261 179594261 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 179594261 179594261 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.14890 p.V4964M 0.986 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,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 110 0 0 66 18 21.4286 ZNF804A 0 genome.wustl.edu 37 2 185801763 185801763 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 185801763 185801763 G A SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.1640 p.R547K 0.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 42 0 0 35 6 14.6341 FAM126B 0 genome.wustl.edu 37 2 201846082 201846082 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 201846082 201846082 C T SNP FAM126B ENST00000418596 human ensembl 74_37 -1 known missense c.1504 p.E502K 1.000 NULL pfam_Hyccin - no_errors FAM126B HGNC ENSG00000155744 81 0 0 43 7 14 BMPR2 0 genome.wustl.edu 37 2 203420873 203420873 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 203420873 203420873 A G SNP BMPR2 ENST00000374580 human ensembl 74_37 +1 known missense c.2485 p.T829A 0.015 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR2 HGNC ENSG00000204217 71 0 0 34 12 26.087 NRP2 0 genome.wustl.edu 37 2 206592721 206592721 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 206592721 206592721 G A SNP NRP2 ENST00000360409 human ensembl 74_37 +1 known missense c.1097 p.S366N 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 59 0 0 23 10 30.303 ZDBF2 0 genome.wustl.edu 37 2 207171007 207171007 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 207171007 207171007 T C SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known silent c.1755 p.C585 0.060 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 56 0 0 23 6 20.6897 ZDBF2 0 genome.wustl.edu 37 2 207171142 207171142 + Silent SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 207171142 207171142 C A SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known silent c.1890 p.V630 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 110 0 0 52 32 38.0952 MAP2 0 genome.wustl.edu 37 2 210518129 210518129 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 210518129 210518129 C T SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known silent c.235 p.L79 1.000 NULL pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 96 0 0 22 34 60.7143 ACADL 0 genome.wustl.edu 37 2 211082788 211082788 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 211082788 211082788 T C SNP ACADL ENST00000233710 human ensembl 74_37 -1 known missense c.272 p.E91G 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_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADL HGNC ENSG00000115361 52 0 0 25 10 28.5714 ERBB4 0 genome.wustl.edu 37 2 212288922 212288922 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 212288922 212288922 G A SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.2824 p.P942S 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 ERBB4 HGNC ENSG00000178568 72 0 0 50 11 18.0328 FN1 0 genome.wustl.edu 37 2 216253000 216253000 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 216253000 216253000 A G SNP FN1 ENST00000354785 human ensembl 74_37 -1 known missense c.4277 p.V1426A 0.995 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 66 0 0 54 8 12.9032 CXCR2P1 0 genome.wustl.edu 37 2 218925669 218925669 + RNA SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 218925669 218925669 G A SNP CXCR2P1 ENST00000439871 human ensembl 74_37 -1 known rna NULL NULL 0.081 - - - no_errors CXCR2P1 HGNC ENSG00000229754 32 0 0 19 5 20.8333 PRKAG3 0 genome.wustl.edu 37 2 219689020 219689020 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 219689020 219689020 T C SNP PRKAG3 ENST00000233944 human ensembl 74_37 -1 known silent c.1278 p.L426 0.031 pfam_CBS_dom pfam_CBS_dom,smart_CBS_dom - no_errors PRKAG3 HGNC ENSG00000115592 33 0 0 21 6 22.2222 SPEG 0 genome.wustl.edu 37 2 220333707 220333707 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 220333707 220333707 G A SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.3428 p.G1143D 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 37 0 0 17 6 26.087 SPEG 0 genome.wustl.edu 37 2 220353849 220353849 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 220353849 220353849 C T SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel silent c.8223 p.G2741 0.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 81 0 0 45 9 16.6667 FARSB 0 genome.wustl.edu 37 2 223478636 223478636 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 223478636 223478636 A G SNP FARSB ENST00000281828 human ensembl 74_37 -1 known silent c.1356 p.T452 1.000 tigrfam_Phe-tRNA-synth_IIc_bsu_arc pfam_B3/B4_tRNA-bd,pfam_tRNA_synthase_B5-dom,superfamily_DNA-bd_dom_put,superfamily_Phe-tRNA_synthase_B3/B4,smart_B3/B4_tRNA-bd,smart_tRNA_synthase_B5-dom,tigrfam_Phe-tRNA-synth_IIc_bsu_arc - no_errors FARSB HGNC ENSG00000116120 68 0 0 51 11 17.7419 CUL3 0 genome.wustl.edu 37 2 225376238 225376238 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 225376238 225376238 G A SNP CUL3 ENST00000264414 human ensembl 74_37 -1 known missense c.716 p.A239V 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 CUL3 HGNC ENSG00000036257 69 0 0 54 4 6.89655 COL4A4 0 genome.wustl.edu 37 2 227892635 227892635 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 227892635 227892635 C A SNP COL4A4 ENST00000396625 human ensembl 74_37 -1 known missense c.4064 p.G1355V 0.809 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 53 0 0 12 12 50 SP110 0 genome.wustl.edu 37 2 231042314 231042314 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 231042314 231042314 G A SNP SP110 ENST00000258381 human ensembl 74_37 -1 known silent c.1530 p.N510 0.000 pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom pfam_Sp100,pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP110 HGNC ENSG00000135899 242 0 0 140 39 21.7877 ALPP 0 genome.wustl.edu 37 2 233243931 233243931 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 233243931 233243931 C T SNP ALPP ENST00000392027 human ensembl 74_37 +1 known missense c.215 p.T72I 0.979 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 72 0 0 47 12 20.339 ALPP 0 genome.wustl.edu 37 2 233245422 233245422 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 233245422 233245422 C T SNP ALPP ENST00000392027 human ensembl 74_37 +1 known missense c.955 p.R319C 0.090 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 49 0 0 61 6 8.95522 GIGYF2 0 genome.wustl.edu 37 2 233671202 233671202 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 233671202 233671202 T C SNP GIGYF2 ENST00000373566 human ensembl 74_37 +1 known silent c.1707 p.G569 1.000 pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF2 HGNC ENSG00000204120 112 1 0.884956 95 18 15.9292 COL6A3 0 genome.wustl.edu 37 2 238289897 238289897 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 238289897 238289897 C T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.1558 p.G520S 0.998 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 111 0 0 39 35 47.2973 ANKMY1 0 genome.wustl.edu 37 2 241496621 241496621 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 241496621 241496621 A G SNP ANKMY1 ENST00000361678 human ensembl 74_37 -1 known silent c.132 p.A44 0.000 NULL pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND - no_errors ANKMY1 HGNC ENSG00000144504 36 0 0 18 17 48.5714 RNPEPL1 0 genome.wustl.edu 37 2 241516115 241516115 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 241516115 241516115 C T SNP RNPEPL1 ENST00000270357 human ensembl 74_37 +1 known silent c.981 p.S327 0.999 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 51 0 0 25 23 47.9167 AQP12B 0 genome.wustl.edu 37 2 241622123 241622123 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 241622123 241622123 C T SNP AQP12B ENST00000407834 human ensembl 74_37 -1 known silent c.132 p.A44 0.751 superfamily_Aquaporin-like,pirsf_Aquaporin_11/12 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP - no_errors AQP12B HGNC ENSG00000185176 20 0 0 10 7 41.1765 HDLBP 0 genome.wustl.edu 37 2 242187691 242187691 + Missense_Mutation SNP G G C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 242187691 242187691 G C SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known missense c.1585 p.R529G 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 105 0 0 79 8 9.1954 MFSD2B 0 genome.wustl.edu 37 2 24247037 24247037 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 24247037 24247037 C T SNP MFSD2B ENST00000338315 human ensembl 74_37 +1 known silent c.1386 p.G462 0.015 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors MFSD2B HGNC ENSG00000205639 20 0 0 4 7 63.6364 CXXC11 0 genome.wustl.edu 37 2 242814493 242814493 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 242814493 242814493 G A SNP CXXC11 ENST00000343216 human ensembl 74_37 +1 known silent c.786 p.P262 0.002 NULL NULL - no_errors CXXC11 HGNC ENSG00000188011 30 0 0 24 9 27.2727 ITSN2 0 genome.wustl.edu 37 2 24483988 24483988 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 24483988 24483988 G T SNP ITSN2 ENST00000355123 human ensembl 74_37 -1 known missense c.2669 p.P890H 1.000 superfamily_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 54 0 0 35 12 25.5319 OTOF 0 genome.wustl.edu 37 2 26683555 26683555 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 26683555 26683555 C A SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.5773 p.G1925C 1.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 25 0 0 13 13 50 EMILIN1 0 genome.wustl.edu 37 2 27305118 27305118 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 27305118 27305118 G A SNP EMILIN1 ENST00000380320 human ensembl 74_37 +1 known missense c.679 p.A227T 0.856 NULL pfam_EMI_domain,pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN1 HGNC ENSG00000138080 19 0 0 14 4 22.2222 IFT172 0 genome.wustl.edu 37 2 27683894 27683894 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 27683894 27683894 C T SNP IFT172 ENST00000260570 human ensembl 74_37 -1 known missense c.2509 p.A837T 0.998 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 122 1 0.813008 57 26 31.3253 XDH 0 genome.wustl.edu 37 2 31560626 31560626 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 31560626 31560626 C T SNP XDH ENST00000379416 human ensembl 74_37 -1 known missense c.3832 p.A1278T 1.000 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 45 0 0 27 12 30.7692 LTBP1 0 genome.wustl.edu 37 2 33623607 33623607 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 33623607 33623607 G A SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known missense c.5164 p.E1722K 1.000 NULL 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,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 69 0 0 22 36 62.069 CRIM1 0 genome.wustl.edu 37 2 36740836 36740836 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 36740836 36740836 C T SNP CRIM1 ENST00000280527 human ensembl 74_37 +1 known silent c.1918 p.L640 1.000 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pfam_VWF_C,pfam_Antistasin-like,superfamily_Hirudin/antistatin,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C - no_errors CRIM1 HGNC ENSG00000150938 42 0 0 24 10 29.4118 CDC42EP3 0 genome.wustl.edu 37 2 37873728 37873728 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 37873728 37873728 C A SNP CDC42EP3 ENST00000295324 human ensembl 74_37 -1 known missense c.3 p.M1I 1.000 NULL pfam_CRIB_dom,smart_CRIB_dom,pfscan_CRIB_dom - no_errors CDC42EP3 HGNC ENSG00000163171 131 0 0 86 26 23.2143 SIX3 0 genome.wustl.edu 37 2 45169338 45169338 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 45169338 45169338 G A SNP SIX3 ENST00000260653 human ensembl 74_37 +1 known missense c.95 p.S32N 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX3 HGNC ENSG00000138083 50 0 0 25 10 28.5714 MSH2 0 genome.wustl.edu 37 2 47705414 47705414 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 47705414 47705414 T C SNP MSH2 ENST00000233146 human ensembl 74_37 +1 known silent c.2214 p.S738 0.954 pfam_DNA_mismatch_repair_MutS_C,superfamily_P-loop_NTPase,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2 - no_errors MSH2 HGNC ENSG00000095002 93 0 0 57 18 24 EML6 0 genome.wustl.edu 37 2 55155778 55155778 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 55155778 55155778 T C SNP EML6 ENST00000356458 human ensembl 74_37 +1 novel silent c.3894 p.V1298 0.962 NULL pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML6 HGNC ENSG00000214595 12 0 0 5 4 44.4444 RTN4 0 genome.wustl.edu 37 2 55252334 55252334 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 55252334 55252334 T C SNP RTN4 ENST00000337526 human ensembl 74_37 -1 known missense c.2901 p.I967M 0.905 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN4 HGNC ENSG00000115310 81 0 0 55 20 26.6667 SOX11 0 genome.wustl.edu 37 2 5833022 5833022 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 5833022 5833022 A G SNP SOX11 ENST00000322002 human ensembl 74_37 +1 known missense c.169 p.M57V 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom - no_errors SOX11 HGNC ENSG00000176887 26 0 0 11 6 35.2941 PELI1 0 genome.wustl.edu 37 2 64322041 64322041 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 64322041 64322041 G A SNP PELI1 ENST00000358912 human ensembl 74_37 -1 known missense c.1052 p.A351V 1.000 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI1 HGNC ENSG00000197329 145 0 0 82 22 21.1538 CEP68 0 genome.wustl.edu 37 2 65296924 65296924 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 65296924 65296924 G A SNP CEP68 ENST00000377990 human ensembl 74_37 +1 known missense c.346 p.G116R 0.003 NULL NULL - no_errors CEP68 HGNC ENSG00000011523 71 0 0 40 16 28.5714 TMEM18 0 genome.wustl.edu 37 2 675560 675560 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 675560 675560 C T SNP TMEM18 ENST00000281017 human ensembl 74_37 -1 known missense c.128 p.C43Y 0.153 NULL NULL - no_errors TMEM18 HGNC ENSG00000151353 63 0 0 32 9 21.9512 PCBP1 0 genome.wustl.edu 37 2 70315822 70315822 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 70315822 70315822 C T SNP PCBP1 ENST00000303577 human ensembl 74_37 +1 known missense c.947 p.A316V 1.000 pfam_KH_dom_type_1,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 PCBP1 HGNC ENSG00000169564 54 0 0 36 17 32.0755 ATP6V1B1 0 genome.wustl.edu 37 2 71189997 71189997 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 71189997 71189997 G A SNP ATP6V1B1 ENST00000234396 human ensembl 74_37 +1 known silent c.876 p.T292 0.001 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 78 0 0 37 11 22.9167 CYP26B1 0 genome.wustl.edu 37 2 72371262 72371262 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 72371262 72371262 G A SNP CYP26B1 ENST00000001146 human ensembl 74_37 -1 known silent c.285 p.R95 0.860 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP26B1 HGNC ENSG00000003137 48 0 0 29 13 30.9524 EMX1 0 genome.wustl.edu 37 2 73160979 73160979 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 73160979 73160979 C T SNP EMX1 ENST00000258106 human ensembl 74_37 +1 known missense c.769 p.P257S 0.992 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors EMX1 HGNC ENSG00000135638 28 0 0 31 4 11.4286 CAPG 0 genome.wustl.edu 37 2 85628347 85628347 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 85628347 85628347 G A SNP CAPG ENST00000263867 human ensembl 74_37 -1 known missense c.457 p.R153W 1.000 pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors CAPG HGNC ENSG00000042493 87 0 0 71 16 18.3908 EIF2AK3 0 genome.wustl.edu 37 2 88890059 88890059 + Missense_Mutation SNP A A T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 88890059 88890059 A T SNP EIF2AK3 ENST00000303236 human ensembl 74_37 -1 known missense c.1067 p.F356Y 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EIF2AK3 HGNC ENSG00000172071 54 0 0 21 14 40 ASTL 0 genome.wustl.edu 37 2 96789597 96789597 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 96789597 96789597 C T SNP ASTL ENST00000342380 human ensembl 74_37 -1 known missense c.1288 p.E430K 0.008 NULL pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A - no_errors ASTL HGNC ENSG00000188886 52 0 0 18 22 55 ASTL 0 genome.wustl.edu 37 2 96798442 96798442 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 96798442 96798442 C T SNP ASTL ENST00000342380 human ensembl 74_37 -1 known silent c.474 p.G158 0.168 pfam_Peptidase_M12A,smart_Peptidase_Metallo pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A - no_errors ASTL HGNC ENSG00000188886 49 0 0 36 10 21.7391 SNRNP200 0 genome.wustl.edu 37 2 96945296 96945296 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 96945296 96945296 A G SNP SNRNP200 ENST00000323853 human ensembl 74_37 -1 known missense c.5026 p.Y1676H 1.000 superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 22 0 0 21 3 12.5 ANKRD39 0 genome.wustl.edu 37 2 97514112 97514112 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 97514112 97514112 G A SNP ANKRD39 ENST00000393537 human ensembl 74_37 -1 known missense c.478 p.R160W 1.000 superfamily_Ankyrin_rpt-contain_dom,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 ANKRD39 HGNC ENSG00000213337 48 0 0 29 4 12.1212 ANKRD36 0 genome.wustl.edu 37 2 97858783 97858783 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 97858783 97858783 T C SNP ANKRD36 ENST00000420699 human ensembl 74_37 +1 known silent c.2442 p.S814 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ENSG00000135976 18 0 0 3 6 66.6667 TSGA10 0 genome.wustl.edu 37 2 99688288 99688288 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 99688288 99688288 G A SNP TSGA10 ENST00000355053 human ensembl 74_37 -1 known missense c.988 p.R330C 1.000 NULL NULL - no_errors TSGA10 HGNC ENSG00000135951 105 0 0 30 60 66.6667 FLRT3 0 genome.wustl.edu 37 20 14307651 14307651 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 14307651 14307651 T C SNP FLRT3 ENST00000341420 human ensembl 74_37 -1 known missense c.502 p.T168A 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT3 HGNC ENSG00000125848 93 0 0 47 25 34.7222 SEC23B 0 genome.wustl.edu 37 20 18523019 18523019 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 18523019 18523019 G A SNP SEC23B ENST00000262544 human ensembl 74_37 +1 known missense c.1484 p.R495H 1.000 pfam_Sec23_24_beta_S 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 136 0 0 86 38 30.6452 THBD 0 genome.wustl.edu 37 20 23028798 23028798 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 23028798 23028798 G A SNP THBD ENST00000377103 human ensembl 74_37 -1 known silent c.1344 p.G448 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_Tme5_EGF-like,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,prints_Thrombomodulin,pfscan_C-type_lectin - no_errors THBD HGNC ENSG00000178726 38 0 0 10 9 47.3684 TGM6 0 genome.wustl.edu 37 20 2384384 2384384 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 2384384 2384384 G A SNP TGM6 ENST00000202625 human ensembl 74_37 +1 known silent c.1251 p.T417 0.024 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM6 HGNC ENSG00000166948 97 0 0 73 18 19.7802 ACSS1 0 genome.wustl.edu 37 20 25004171 25004171 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 25004171 25004171 C T SNP ACSS1 ENST00000323482 human ensembl 74_37 -1 known silent c.738 p.Q246 0.764 pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig - no_errors ACSS1 HGNC ENSG00000154930 54 0 0 21 11 34.375 DEFB119 0 genome.wustl.edu 37 20 29965051 29965051 + Nonstop_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 29965051 29965051 A G SNP DEFB119 ENST00000376321 human ensembl 74_37 -1 known nonstop c.253 p.*85R 0.689 NULL NULL - no_errors DEFB119 HGNC ENSG00000180483 101 0 0 42 40 48.7805 GNRH2 0 genome.wustl.edu 37 20 3025077 3025077 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 3025077 3025077 G A SNP GNRH2 ENST00000245983 human ensembl 74_37 +1 known missense c.17 p.R6Q 0.007 NULL pfam_GnRH - no_errors GNRH2 HGNC ENSG00000125787 52 0 0 31 12 27.907 CCM2L 0 genome.wustl.edu 37 20 30617624 30617624 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 30617624 30617624 G A SNP CCM2L ENST00000300415 human ensembl 74_37 +1 known missense c.1385 p.R462H 1.000 NULL NULL - no_errors CCM2L HGNC ENSG00000101331 25 0 0 14 8 36.3636 KIF3B 0 genome.wustl.edu 37 20 30904405 30904405 + Missense_Mutation SNP A A C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 30904405 30904405 A C SNP KIF3B ENST00000375712 human ensembl 74_37 +1 known missense c.1582 p.S528R 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 KIF3B HGNC ENSG00000101350 64 0 0 40 13 24.5283 LZTS3 0 genome.wustl.edu 37 20 3145701 3145701 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 3145701 3145701 C T SNP LZTS3 ENST00000329152 human ensembl 74_37 -1 known missense c.1421 p.R474H 1.000 NULL NULL - no_errors LZTS3 Uniprot_gn ENSG00000088899 14 0 0 7 4 36.3636 MYH7B 0 genome.wustl.edu 37 20 33577633 33577633 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 33577633 33577633 G A SNP MYH7B ENST00000262873 human ensembl 74_37 +1 novel missense c.1804 p.A602T 0.002 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 46 0 0 42 17 28.8136 DLGAP4 0 genome.wustl.edu 37 20 35125326 35125326 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 35125326 35125326 C T SNP DLGAP4 ENST00000339266 human ensembl 74_37 +1 known missense c.1867 p.R623W 0.970 NULL pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 32 0 0 13 11 45.8333 NNAT 0 genome.wustl.edu 37 20 36149740 36149740 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 36149740 36149740 G A SNP NNAT ENST00000062104 human ensembl 74_37 +1 known missense c.7 p.A3T 1.000 NULL NULL - no_errors NNAT HGNC ENSG00000053438 130 0 0 89 31 25.8333 ADAM33 0 genome.wustl.edu 37 20 3652952 3652952 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 3652952 3652952 G A SNP ADAM33 ENST00000356518 human ensembl 74_37 -1 known missense c.1426 p.R476C 1.000 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,prints_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM33 HGNC ENSG00000149451 40 0 0 21 14 40 PPP1R16B 0 genome.wustl.edu 37 20 37536802 37536802 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 37536802 37536802 G T SNP PPP1R16B ENST00000299824 human ensembl 74_37 +1 known missense c.1160 p.R387M 1.000 pirsf_Pase-1_reg_su_16AB_euk 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 34 0 0 32 8 20 FAM83D 0 genome.wustl.edu 37 20 37570621 37570621 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 37570621 37570621 A G SNP FAM83D ENST00000217429 human ensembl 74_37 +1 known missense c.593 p.D198G 0.999 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83D HGNC ENSG00000101447 111 0 0 80 6 6.97674 DHX35 0 genome.wustl.edu 37 20 37647462 37647462 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 37647462 37647462 G A SNP DHX35 ENST00000252011 human ensembl 74_37 +1 known missense c.1418 p.C473Y 1.000 pfam_Helicase-assoc_dom,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom 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 165 0 0 121 32 20.915 CHD6 0 genome.wustl.edu 37 20 40126803 40126803 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 40126803 40126803 C T SNP CHD6 ENST00000373222 human ensembl 74_37 -1 known missense c.1084 p.V362I 1.000 NULL NULL - no_errors CHD6 HGNC ENSG00000124177 73 0 0 41 14 25.4545 ADRA1D 0 genome.wustl.edu 37 20 4202257 4202257 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 4202257 4202257 T C SNP ADRA1D ENST00000379453 human ensembl 74_37 -1 known silent c.1632 p.L544 0.000 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 15 0 0 19 5 20.8333 YWHAB 0 genome.wustl.edu 37 20 43535058 43535058 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 43535058 43535058 C T SNP YWHAB ENST00000353703 human ensembl 74_37 +1 known silent c.720 p.D240 0.956 smart_14-3-3_domain,pirsf_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 YWHAB HGNC ENSG00000166913 44 0 0 16 14 46.6667 SYS1 0 genome.wustl.edu 37 20 43995543 43995543 + Nonsense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 43995543 43995543 C T SNP SYS1 ENST00000243918 human ensembl 74_37 +1 known nonsense c.259 p.R87* 1.000 pfam_Integral_membrane_SYS1-rel,pirsf_Integral_membrane_SYS1 pfam_Integral_membrane_SYS1-rel,pirsf_Integral_membrane_SYS1 - no_errors SYS1 HGNC ENSG00000204070 138 0 0 97 32 24.8062 KCNB1 0 genome.wustl.edu 37 20 48098564 48098564 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 48098564 48098564 C T SNP KCNB1 ENST00000371741 human ensembl 74_37 -1 known missense c.454 p.A152T 1.000 NULL pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB1 HGNC ENSG00000158445 88 0 0 38 42 52.5 PTGIS 0 genome.wustl.edu 37 20 48164538 48164538 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 48164538 48164538 A G SNP PTGIS ENST00000244043 human ensembl 74_37 -1 known missense c.217 p.Y73H 0.985 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors PTGIS HGNC ENSG00000124212 71 0 0 24 18 42.8571 PARD6B 0 genome.wustl.edu 37 20 49366959 49366959 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 49366959 49366959 G A SNP PARD6B ENST00000371610 human ensembl 74_37 +1 known silent c.1053 p.T351 0.001 NULL pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ - no_errors PARD6B HGNC ENSG00000124171 104 0 0 66 33 33.3333 SALL4 0 genome.wustl.edu 37 20 50408031 50408031 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 50408031 50408031 G T SNP SALL4 ENST00000217086 human ensembl 74_37 -1 known missense c.991 p.P331T 0.234 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 30 0 0 21 5 19.2308 MCM8 0 genome.wustl.edu 37 20 5933111 5933111 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 5933111 5933111 T C SNP MCM8 ENST00000378886 human ensembl 74_37 +1 known missense c.190 p.S64P 0.046 NULL pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM8 HGNC ENSG00000125885 156 0 0 90 32 26.2295 SS18L1 0 genome.wustl.edu 37 20 60737894 60737894 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 60737894 60737894 G A SNP SS18L1 ENST00000370848 human ensembl 74_37 +1 known missense c.472 p.A158T 0.958 NULL pfam_SS18_fam - no_errors SS18L1 HGNC ENSG00000184402 15 0 0 13 8 38.0952 COL9A3 0 genome.wustl.edu 37 20 61467685 61467685 + Silent SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 61467685 61467685 G T SNP COL9A3 ENST00000343916 human ensembl 74_37 +1 known silent c.1548 p.P516 1.000 pfam_Collagen pfam_Collagen - no_errors COL9A3 HGNC ENSG00000092758 32 0 0 11 12 52.1739 DIDO1 0 genome.wustl.edu 37 20 61511012 61511012 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 61511012 61511012 G T SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.6296 p.P2099Q 0.001 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 98 0 0 68 54 44.2623 DIDO1 0 genome.wustl.edu 37 20 61528048 61528048 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 61528048 61528048 C T SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.1889 p.G630D 0.004 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 57 0 0 29 10 25.641 HELZ2 0 genome.wustl.edu 37 20 62200154 62200154 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 62200154 62200154 C T SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known silent c.1287 p.T429 0.000 NULL superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 16 0 0 13 3 18.75 ZBTB46 0 genome.wustl.edu 37 20 62421833 62421833 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 62421833 62421833 G A SNP ZBTB46 ENST00000245663 human ensembl 74_37 -1 known missense c.278 p.A93V 0.997 pfam_BTB_POZ,pfam_DUF3342,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB46 HGNC ENSG00000130584 32 0 0 24 14 36.8421 MYT1 0 genome.wustl.edu 37 20 62858781 62858781 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 62858781 62858781 G A SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known missense c.2623 p.G875S 1.000 pfam_Znf_C2HC pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 12 0 0 17 5 22.7273 ANGPT4 0 genome.wustl.edu 37 20 870947 870947 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 870947 870947 T C SNP ANGPT4 ENST00000381922 human ensembl 74_37 -1 known missense c.374 p.Q125R 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 ANGPT4 HGNC ENSG00000101280 37 0 0 31 18 36.7347 TMPRSS15 0 genome.wustl.edu 37 21 19737461 19737461 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 21 19737461 19737461 T C SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known missense c.769 p.I257V 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_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 86 0 0 31 11 26.1905 NCAM2 0 genome.wustl.edu 37 21 22849745 22849745 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 21 22849745 22849745 C T SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known missense c.2030 p.P677L 1.000 pfam_Fibronectin_type3,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,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 85 0 0 37 16 30.1887 GABPA 0 genome.wustl.edu 37 21 27136926 27136926 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 21 27136926 27136926 C T SNP GABPA ENST00000354828 human ensembl 74_37 +1 known silent c.964 p.L322 1.000 pfam_Ets_dom,smart_Ets_dom,pirsf_TF_GA-bd_asu,pfscan_Ets_dom,prints_Ets_dom pfam_GABP_asu_N,pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pirsf_TF_GA-bd_asu,pfscan_Ets_dom,prints_Ets_dom - no_errors GABPA HGNC ENSG00000154727 79 0 0 33 14 29.7872 ADAMTS1 0 genome.wustl.edu 37 21 28212698 28212698 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 21 28212698 28212698 C T SNP ADAMTS1 ENST00000284984 human ensembl 74_37 -1 known missense c.1562 p.C521Y 1.000 smart_ADAM_Cys-rich pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS1 HGNC ENSG00000154734 61 0 0 24 5 17.2414 PCP4 0 genome.wustl.edu 37 21 41301089 41301089 + RNA SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 21 41301089 41301089 G A SNP PCP4 ENST00000467565 human ensembl 74_37 +1 known rna NULL NULL 0.033 - - - no_errors PCP4 HGNC ENSG00000183036 41 0 0 16 13 44.8276 ZBTB21 0 genome.wustl.edu 37 21 43412000 43412000 + Splice_Site SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 21 43412000 43412000 T C SNP ZBTB21 ENST00000465968 human ensembl 74_37 -1 known splice_site c.NULL NULL 0.992 - - - no_errors ZBTB21 HGNC ENSG00000173276 176 0 0 117 27 18.75 UMODL1 0 genome.wustl.edu 37 21 43508533 43508533 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 21 43508533 43508533 A G SNP UMODL1 ENST00000408989 human ensembl 74_37 +1 known missense c.733 p.T245A 0.000 NULL pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC ENSG00000177398 21 0 0 12 6 33.3333 TMPRSS3 0 genome.wustl.edu 37 21 43810131 43810131 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 21 43810131 43810131 G A SNP TMPRSS3 ENST00000380399 human ensembl 74_37 -1 known missense c.362 p.A121V 0.454 NULL pfam_Peptidase_S1,pfam_SRCR,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_LDrepeatLR_classA_rpt,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS3 HGNC ENSG00000160183 48 0 0 14 12 46.1538 NDUFV3 0 genome.wustl.edu 37 21 44324217 44324217 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 21 44324217 44324217 G T SNP NDUFV3 ENST00000354250 human ensembl 74_37 +1 known missense c.1095 p.K365N 0.664 NULL NULL - no_errors NDUFV3 HGNC ENSG00000160194 41 0 0 34 17 33.3333 PDXK 0 genome.wustl.edu 37 21 45168941 45168941 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 21 45168941 45168941 G A SNP PDXK ENST00000291565 human ensembl 74_37 +1 known silent c.444 p.T148 0.248 pfam_PfkB_dom,pfam_HMP-P_kinase-1,tigrfam_PyrdxlP_synth_PyrdxlKinase pfam_PfkB_dom,pfam_HMP-P_kinase-1,tigrfam_PyrdxlP_synth_PyrdxlKinase - no_errors PDXK HGNC ENSG00000160209 63 0 0 22 7 24.1379 PFKL 0 genome.wustl.edu 37 21 45741668 45741668 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 21 45741668 45741668 G A SNP PFKL ENST00000403390 human ensembl 74_37 +1 known silent c.1389 p.A463 0.210 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 32 0 0 15 6 28.5714 CECR2 0 genome.wustl.edu 37 22 17978463 17978463 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 22 17978463 17978463 C T SNP CECR2 ENST00000400573 human ensembl 74_37 +1 novel missense c.361 p.R121C 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 47 0 0 16 7 30.4348 TRMT2A 0 genome.wustl.edu 37 22 20103816 20103816 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 22 20103816 20103816 G A SNP TRMT2A ENST00000252136 human ensembl 74_37 -1 known missense c.344 p.T115I 0.999 pfscan_RRM_dom pfam_U5_MeTrfase,pfam_PCMT,pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,pfam_tRNA_(Gua-N-7)_MeTrfase,pfam_UbiE/COQ5_MeTrFase,pfscan_RRM_dom - no_errors TRMT2A HGNC ENSG00000099899 42 0 0 24 4 14.2857 ZNF74 0 genome.wustl.edu 37 22 20761010 20761010 + Nonsense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 22 20761010 20761010 G T SNP ZNF74 ENST00000356671 human ensembl 74_37 +1 known nonsense c.1687 p.E563* 0.009 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF74 HGNC ENSG00000185252 81 0 0 23 17 42.5 RTDR1 0 genome.wustl.edu 37 22 23404006 23404006 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 22 23404006 23404006 G A SNP RTDR1 ENST00000216036 human ensembl 74_37 -1 known silent c.771 p.F257 0.004 superfamily_ARM-type_fold pfam_HEAT,pfam_Armadillo,superfamily_ARM-type_fold - no_errors RTDR1 HGNC ENSG00000100218 48 0 0 27 4 12.9032 SUSD2 0 genome.wustl.edu 37 22 24579578 24579578 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 22 24579578 24579578 G A SNP SUSD2 ENST00000358321 human ensembl 74_37 +1 known missense c.403 p.G135S 0.967 superfamily_Ig_E-set 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 36 0 0 19 5 20.8333 SPECC1L 0 genome.wustl.edu 37 22 24717611 24717611 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 22 24717611 24717611 G T SNP SPECC1L ENST00000314328 human ensembl 74_37 +1 known missense c.663 p.E221D 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 112 0 0 46 26 36.1111 SGSM1 0 genome.wustl.edu 37 22 25294421 25294421 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 22 25294421 25294421 G A SNP SGSM1 ENST00000400359 human ensembl 74_37 +1 known silent c.2670 p.S890 0.925 superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 95 0 0 38 11 22.449 ADRBK2 0 genome.wustl.edu 37 22 26086188 26086188 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 22 26086188 26086188 C T SNP ADRBK2 ENST00000324198 human ensembl 74_37 +1 known silent c.990 p.H330 0.867 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors ADRBK2 HGNC ENSG00000100077 47 0 0 22 9 29.0323 TFIP11 0 genome.wustl.edu 37 22 26895229 26895229 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 22 26895229 26895229 G A SNP TFIP11 ENST00000405938 human ensembl 74_37 -1 known silent c.1170 p.D390 0.103 NULL pfam_GCFC_dom,pfam_TIP_N,pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors TFIP11 HGNC ENSG00000100109 34 0 0 12 8 40 CHEK2 0 genome.wustl.edu 37 22 29120963 29120963 + Splice_Site SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 22 29120963 29120963 A G SNP CHEK2 ENST00000382580 human ensembl 74_37 -1 known splice_site c.721+2 e4+2 1.000 - - - no_errors CHEK2 HGNC ENSG00000183765 61 0 0 31 3 8.82353 EWSR1 0 genome.wustl.edu 37 22 29695771 29695771 + Missense_Mutation SNP C C G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 22 29695771 29695771 C G SNP EWSR1 ENST00000414183 human ensembl 74_37 +1 known missense c.1876 p.P626A 0.935 NULL pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors EWSR1 HGNC ENSG00000182944 11 0 0 4 5 55.5556 RNF215 0 genome.wustl.edu 37 22 30780336 30780336 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 22 30780336 30780336 G T SNP RNF215 ENST00000382363 human ensembl 74_37 -1 known missense c.736 p.Q246K 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF215 HGNC ENSG00000099999 53 0 0 48 5 9.43396 DEPDC5 0 genome.wustl.edu 37 22 32239152 32239152 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 22 32239152 32239152 G A SNP DEPDC5 ENST00000266091 human ensembl 74_37 +1 known missense c.2587 p.V863M 1.000 NULL pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 74 0 0 41 13 24.0741 SYN3 0 genome.wustl.edu 37 22 33327401 33327401 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 22 33327401 33327401 G A SNP SYN3 ENST00000332840 human ensembl 74_37 -1 known silent c.435 p.V145 1.000 pfam_Synapsin_pre-ATP-grasp_dom,superfamily_PreATP-grasp_dom pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_dom,prints_Synapsin - no_errors SYN3 HGNC ENSG00000185666 47 0 0 23 8 25.8065 CARD10 0 genome.wustl.edu 37 22 37914112 37914112 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 22 37914112 37914112 C T SNP CARD10 ENST00000251973 human ensembl 74_37 -1 known missense c.239 p.R80H 1.000 pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD10 HGNC ENSG00000100065 31 0 0 17 8 32 CBX6 0 genome.wustl.edu 37 22 39262866 39262866 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 22 39262866 39262866 G A SNP CBX6 ENST00000407418 human ensembl 74_37 -1 known missense c.587 p.A196V 0.034 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX6 HGNC ENSG00000183741 18 0 0 12 3 20 FAM83F 0 genome.wustl.edu 37 22 40415244 40415244 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 22 40415244 40415244 C T SNP FAM83F ENST00000333407 human ensembl 74_37 +1 known missense c.562 p.R188C 1.000 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83F HGNC ENSG00000133477 70 0 0 44 14 24.1379 SLC25A17 0 genome.wustl.edu 37 22 41173356 41173356 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 22 41173356 41173356 C T SNP SLC25A17 ENST00000435456 human ensembl 74_37 -1 known missense c.473 p.R158H 0.887 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A17 HGNC ENSG00000100372 78 0 0 31 10 24.3902 XRCC6 0 genome.wustl.edu 37 22 42032527 42032527 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 22 42032527 42032527 A G SNP XRCC6 ENST00000359308 human ensembl 74_37 +1 known silent c.342 p.K114 0.966 pirsf_Ku70,pfam_Ku_N,tigrfam_Ku70 pirsf_Ku70,pfam_Ku_N,pfam_Ku70/Ku80_beta-barrel_dom,pfam_Ku_C,pfam_SAP_dom,superfamily_SPOC_like_C_dom,smart_Ku70/Ku80_beta-barrel_dom,smart_SAP_dom,pfscan_SAP_dom,tigrfam_Ku70 - no_errors XRCC6 HGNC ENSG00000196419 45 0 0 14 8 36.3636 MEI1 0 genome.wustl.edu 37 22 42125712 42125712 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 22 42125712 42125712 A G SNP MEI1 ENST00000401548 human ensembl 74_37 +1 known missense c.908 p.H303R 0.954 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MEI1 HGNC ENSG00000167077 22 0 0 20 4 16.6667 MEI1 0 genome.wustl.edu 37 22 42191805 42191805 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 22 42191805 42191805 C A SNP MEI1 ENST00000401548 human ensembl 74_37 +1 known missense c.3733 p.L1245I 0.005 NULL superfamily_ARM-type_fold - no_errors MEI1 HGNC ENSG00000167077 29 0 0 7 4 36.3636 SCUBE1 0 genome.wustl.edu 37 22 43616498 43616498 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 22 43616498 43616498 T C SNP SCUBE1 ENST00000360835 human ensembl 74_37 -1 known missense c.1645 p.T549A 1.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE1 HGNC ENSG00000159307 105 0 0 58 20 25.641 ARHGAP8 0 genome.wustl.edu 37 22 45255646 45255646 + Nonsense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 22 45255646 45255646 C T SNP ARHGAP8 ENST00000517296 human ensembl 74_37 +1 known nonsense c.1543 p.Q515* 0.994 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_HbrB,pfam_CRAL-TRIO_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CRAL-TRIO_dom,smart_RhoGAP_dom,pfscan_CRAL-TRIO_dom,pfscan_RhoGAP_dom - no_errors ARHGAP8 HGNC ENSG00000241484 30 0 0 24 7 22.5806 WNT7B 0 genome.wustl.edu 37 22 46319086 46319086 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 22 46319086 46319086 C T SNP WNT7B ENST00000339464 human ensembl 74_37 -1 known missense c.700 p.A234T 0.994 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7 - no_errors WNT7B HGNC ENSG00000188064 29 0 0 25 4 13.7931 GRAMD4 0 genome.wustl.edu 37 22 47073062 47073062 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 22 47073062 47073062 A G SNP GRAMD4 ENST00000361034 human ensembl 74_37 +1 known missense c.1651 p.M551V 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD4 HGNC ENSG00000075240 64 0 0 60 14 18.9189 TUBGCP6 0 genome.wustl.edu 37 22 50667976 50667976 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 22 50667976 50667976 C T SNP TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known missense c.1147 p.V383I 0.859 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 12 0 0 2 7 77.7778 TBC1D23 0 genome.wustl.edu 37 3 100020962 100020962 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 100020962 100020962 G A SNP TBC1D23 ENST00000394144 human ensembl 74_37 +1 known missense c.1144 p.A382T 1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Rab-GTPase-TBC_dom,pfam_Rhodanese-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Rhodanese-like_dom - no_errors TBC1D23 HGNC ENSG00000036054 58 0 0 36 15 29.4118 SEC13 0 genome.wustl.edu 37 3 10346789 10346789 + Missense_Mutation SNP A A C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 10346789 10346789 A C SNP SEC13 ENST00000350697 human ensembl 74_37 -1 known missense c.636 p.S212R 0.997 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 SEC13 HGNC ENSG00000157020 34 0 0 29 6 17.1429 ATP2B2 0 genome.wustl.edu 37 3 10382234 10382234 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 10382234 10382234 G A SNP ATP2B2 ENST00000352432 human ensembl 74_37 -1 known silent c.3072 p.D1024 0.834 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_plasma pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B2 HGNC ENSG00000157087 110 0 0 77 23 23 ATP2B2 0 genome.wustl.edu 37 3 10387133 10387133 + Nonsense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 10387133 10387133 G A SNP ATP2B2 ENST00000352432 human ensembl 74_37 -1 known nonsense c.2638 p.Q880* 1.000 tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B2 HGNC ENSG00000157087 63 0 0 38 9 19.1489 ZBED2 0 genome.wustl.edu 37 3 111312782 111312782 + Silent SNP A A C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 111312782 111312782 A C SNP ZBED2 ENST00000317012 human ensembl 74_37 -1 known silent c.267 p.P89 0.033 pfam_Znf_BED_prd,smart_Znf_BED_prd,pfscan_Znf_BED_prd pfam_Znf_BED_prd,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED2 HGNC ENSG00000177494 53 0 0 24 9 27.2727 PLCXD2 0 genome.wustl.edu 37 3 111564673 111564673 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 111564673 111564673 C T SNP PLCXD2 ENST00000393934 human ensembl 74_37 +1 known missense c.872 p.A291V 0.006 NULL pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom - no_errors PLCXD2 HGNC ENSG00000240891 89 0 0 70 5 6.66667 SLC9C1 0 genome.wustl.edu 37 3 111921157 111921157 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 111921157 111921157 T C SNP SLC9C1 ENST00000305815 human ensembl 74_37 -1 known silent c.2262 p.Q754 1.000 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 62 0 0 33 11 25 KIAA2018 0 genome.wustl.edu 37 3 113376559 113376559 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 113376559 113376559 G A SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known missense c.3970 p.R1324C 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 136 0 0 84 27 24.3243 QTRTD1 0 genome.wustl.edu 37 3 113795686 113795686 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 113795686 113795686 G T SNP QTRTD1 ENST00000281273 human ensembl 74_37 +1 known missense c.643 p.G215C 1.000 pfam_tRNA_ribo_trans-like,superfamily_tRNA_ribo_trans-like,tigrfam_tRNA_ribo_trans-like pfam_tRNA_ribo_trans-like,superfamily_tRNA_ribo_trans-like,tigrfam_tRNA_ribo_trans-like - no_errors QTRTD1 HGNC ENSG00000151576 48 0 0 32 13 28.8889 POLQ 0 genome.wustl.edu 37 3 121248525 121248525 + Nonsense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 121248525 121248525 G A SNP POLQ ENST00000264233 human ensembl 74_37 -1 known nonsense c.1075 p.R359* 0.969 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 127 0 0 73 23 23.9583 DTX3L 0 genome.wustl.edu 37 3 122288531 122288531 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 122288531 122288531 G A SNP DTX3L ENST00000296161 human ensembl 74_37 +1 known missense c.1595 p.S532N 0.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3L HGNC ENSG00000163840 63 0 0 49 13 20.9677 DTX3L 0 genome.wustl.edu 37 3 122289427 122289427 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 122289427 122289427 T C SNP DTX3L ENST00000296161 human ensembl 74_37 +1 known silent c.2061 p.F687 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3L HGNC ENSG00000163840 94 0 0 62 25 28.7356 HEG1 0 genome.wustl.edu 37 3 124731892 124731892 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 124731892 124731892 G A SNP HEG1 ENST00000311127 human ensembl 74_37 -1 known missense c.2531 p.T844I 0.001 NULL pfam_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 HEG1 HGNC ENSG00000173706 197 0 0 136 14 9.33333 ZNF148 0 genome.wustl.edu 37 3 124953119 124953119 + Missense_Mutation SNP T T G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 124953119 124953119 T G SNP ZNF148 ENST00000360647 human ensembl 74_37 -1 known missense c.722 p.H241P 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF148 HGNC ENSG00000163848 87 0 0 60 22 26.8293 UROC1 0 genome.wustl.edu 37 3 126219539 126219539 + Missense_Mutation SNP T T A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 126219539 126219539 T A SNP UROC1 ENST00000290868 human ensembl 74_37 -1 known missense c.1144 p.S382C 1.000 pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase - no_errors UROC1 HGNC ENSG00000159650 125 0 0 96 32 25 UROC1 0 genome.wustl.edu 37 3 126220661 126220661 + Missense_Mutation SNP A A C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 126220661 126220661 A C SNP UROC1 ENST00000383579 human ensembl 74_37 -1 novel missense c.1033 p.F345V 0.000 NULL pfam_Urocanase,superfamily_Urocanase - no_errors UROC1 HGNC ENSG00000159650 39 0 0 17 12 41.3793 UROC1 0 genome.wustl.edu 37 3 126226620 126226620 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 126226620 126226620 C T SNP UROC1 ENST00000290868 human ensembl 74_37 -1 known silent c.567 p.T189 0.000 pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase - no_errors UROC1 HGNC ENSG00000159650 111 0 0 84 23 21.4953 RUVBL1 0 genome.wustl.edu 37 3 127806584 127806584 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 127806584 127806584 G A SNP RUVBL1 ENST00000322623 human ensembl 74_37 -1 known missense c.1084 p.R362W 1.000 pfam_TIP49_C,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_TIP49_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase - no_errors RUVBL1 HGNC ENSG00000175792 60 0 0 42 15 26.3158 EFCC1 0 genome.wustl.edu 37 3 128757721 128757721 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 128757721 128757721 C T SNP EFCC1 ENST00000436022 human ensembl 74_37 +1 known silent c.327 p.D109 0.092 NULL NULL - no_errors EFCC1 HGNC ENSG00000114654 79 0 0 45 21 31.8182 IFT122 0 genome.wustl.edu 37 3 129233274 129233274 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 129233274 129233274 T C SNP IFT122 ENST00000296266 human ensembl 74_37 +1 known silent c.3183 p.G1061 0.013 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT122 HGNC ENSG00000163913 41 0 0 51 5 8.92857 PLXND1 0 genome.wustl.edu 37 3 129281738 129281738 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 129281738 129281738 G A SNP PLXND1 ENST00000324093 human ensembl 74_37 -1 known missense c.4717 p.R1573W 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 PLXND1 HGNC ENSG00000004399 27 0 0 16 8 33.3333 PLXND1 0 genome.wustl.edu 37 3 129292568 129292568 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 129292568 129292568 C T SNP PLXND1 ENST00000324093 human ensembl 74_37 -1 known silent c.2706 p.P902 0.879 pfam_IPT,superfamily_Ig_E-set,smart_IPT 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 PLXND1 HGNC ENSG00000004399 16 0 0 18 5 21.7391 COL6A5 0 genome.wustl.edu 37 3 130187927 130187927 + Missense_Mutation SNP A A T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 130187927 130187927 A T SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known missense c.7079 p.D2360V 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 48 0 0 27 4 12.9032 COL6A6 0 genome.wustl.edu 37 3 130292809 130292809 + Missense_Mutation SNP T T A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 130292809 130292809 T A SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.2987 p.I996N 0.983 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 24 0 0 19 8 29.6296 COL6A6 0 genome.wustl.edu 37 3 130307997 130307997 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 130307997 130307997 A G SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.4189 p.M1397V 0.000 pfam_Collagen pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 49 0 0 26 9 25.7143 EPHB1 0 genome.wustl.edu 37 3 134851736 134851736 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 134851736 134851736 C T SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known missense c.1142 p.P381L 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,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 30 0 0 28 7 20 PIK3CB 0 genome.wustl.edu 37 3 138417775 138417775 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 138417775 138417775 A G SNP PIK3CB ENST00000289153 human ensembl 74_37 -1 known missense c.1744 p.W582R 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_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 122 0 0 89 24 21.2389 RNF7 0 genome.wustl.edu 37 3 141457324 141457324 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 141457324 141457324 C T SNP RNF7 ENST00000273480 human ensembl 74_37 +1 known silent c.141 p.C47 1.000 NULL pfscan_Znf_RING - no_errors RNF7 HGNC ENSG00000114125 15 0 0 17 4 19.0476 C3orf20 0 genome.wustl.edu 37 3 14744763 14744763 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 14744763 14744763 G A SNP C3orf20 ENST00000253697 human ensembl 74_37 +1 known missense c.872 p.R291H 0.951 NULL NULL - no_errors C3orf20 HGNC ENSG00000131379 116 0 0 80 26 24.5283 CP 0 genome.wustl.edu 37 3 148897376 148897376 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 148897376 148897376 T C SNP CP ENST00000264613 human ensembl 74_37 -1 known silent c.2628 p.P876 0.464 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin - no_errors CP HGNC ENSG00000047457 42 0 0 37 5 11.9048 FGD5 0 genome.wustl.edu 37 3 14939591 14939591 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 14939591 14939591 C T SNP FGD5 ENST00000285046 human ensembl 74_37 +1 known missense c.3055 p.R1019C 0.950 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 68 0 0 65 15 18.75 FAM194A 0 genome.wustl.edu 37 3 150387183 150387183 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 150387183 150387183 T C SNP FAM194A ENST00000295910 human ensembl 74_37 -1 known missense c.1399 p.T467A 0.026 NULL NULL - no_errors FAM194A HGNC ENSG00000163645 90 0 0 54 23 29.8701 DHX36 0 genome.wustl.edu 37 3 154011567 154011567 + Missense_Mutation SNP A A T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 154011567 154011567 A T SNP DHX36 ENST00000496811 human ensembl 74_37 -1 known missense c.1640 p.I547K 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 52 0 0 39 8 17.0213 MLF1 0 genome.wustl.edu 37 3 158310241 158310241 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 158310241 158310241 C T SNP MLF1 ENST00000495452 human ensembl 74_37 +1 known missense c.131 p.T44I 0.985 NULL NULL - no_errors MLF1 HGNC ENSG00000178053 67 0 0 43 12 21.8182 MLF1 0 genome.wustl.edu 37 3 158310320 158310320 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 158310320 158310320 G T SNP MLF1 ENST00000392822 human ensembl 74_37 +1 known missense c.193 p.G65W 0.943 pfam_Myeloid_leukemia_factor pfam_Myeloid_leukemia_factor - no_errors MLF1 HGNC ENSG00000178053 92 0 0 62 15 19.4805 WDR49 0 genome.wustl.edu 37 3 167250683 167250683 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 167250683 167250683 C A SNP WDR49 ENST00000308378 human ensembl 74_37 -1 known missense c.981 p.L327F 0.163 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR49 HGNC ENSG00000174776 42 0 0 34 7 17.0732 SLC2A2 0 genome.wustl.edu 37 3 170727811 170727811 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 170727811 170727811 A G SNP SLC2A2 ENST00000469787 human ensembl 74_37 -1 known missense c.169 p.F57L 0.270 NULL pfam_Sub_transporter - no_errors SLC2A2 HGNC ENSG00000163581 66 0 0 42 8 16 ECT2 0 genome.wustl.edu 37 3 172486914 172486914 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 172486914 172486914 T C SNP ECT2 ENST00000427830 human ensembl 74_37 +1 known missense c.1316 p.I439T 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain - no_errors ECT2 HGNC ENSG00000114346 55 0 0 55 7 11.2903 TRA2B 0 genome.wustl.edu 37 3 185636197 185636197 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 185636197 185636197 C T SNP TRA2B ENST00000453386 human ensembl 74_37 -1 known missense c.812 p.R271H 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TRA2B HGNC ENSG00000136527 74 0 0 74 14 15.9091 MASP1 0 genome.wustl.edu 37 3 186953694 186953694 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 186953694 186953694 G A SNP MASP1 ENST00000296280 human ensembl 74_37 -1 known silent c.1965 p.G655 0.057 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors MASP1 HGNC ENSG00000127241 54 0 0 34 8 19.0476 MASP1 0 genome.wustl.edu 37 3 186974645 186974645 + Missense_Mutation SNP T T G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 186974645 186974645 T G SNP MASP1 ENST00000296280 human ensembl 74_37 -1 known missense c.551 p.E184A 1.000 superfamily_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors MASP1 HGNC ENSG00000127241 63 0 0 41 17 29.3103 TP63 0 genome.wustl.edu 37 3 189526151 189526151 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 189526151 189526151 G A SNP TP63 ENST00000264731 human ensembl 74_37 +1 known missense c.415 p.A139T 1.000 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 TP63 HGNC ENSG00000073282 71 0 0 48 11 18.6441 CLDN16 0 genome.wustl.edu 37 3 190127802 190127802 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 190127802 190127802 T C SNP CLDN16 ENST00000264734 human ensembl 74_37 +1 known missense c.895 p.Y299H 1.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_Claudin16,prints_Claudin - no_errors CLDN16 HGNC ENSG00000113946 51 0 0 63 11 14.8649 CEP19 0 genome.wustl.edu 37 3 196435397 196435397 + Splice_Site SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 196435397 196435397 A G SNP CEP19 ENST00000409690 human ensembl 74_37 -1 known splice_site c.142+2 e1+2 1.000 - - - no_errors CEP19 HGNC ENSG00000174007 99 0 0 64 18 21.9512 DLG1 0 genome.wustl.edu 37 3 196867105 196867105 + Nonsense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 196867105 196867105 C A SNP DLG1 ENST00000346964 human ensembl 74_37 -1 known nonsense c.718 p.G240* 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,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,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG1 HGNC ENSG00000075711 136 0 0 88 17 16.1905 RARB 0 genome.wustl.edu 37 3 25502773 25502773 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 25502773 25502773 G A SNP RARB ENST00000404969 human ensembl 74_37 +1 known missense c.268 p.V90I 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARB HGNC ENSG00000077092 47 0 0 50 15 23.0769 TOP2B 0 genome.wustl.edu 37 3 25665821 25665821 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 25665821 25665821 G A SNP TOP2B ENST00000264331 human ensembl 74_37 -1 known missense c.2462 p.A821V 1.000 pfam_Topo_IIA_A/C,superfamily_Topo_IIA_like_dom,smart_Topo_IIA_A/C,prints_TopoII_euk 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 140 0 0 109 23 17.4242 LINC00692 0 genome.wustl.edu 37 3 25900239 25900239 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 25900239 25900239 G A SNP LINC00692 ENST00000451284 human ensembl 74_37 -1 putative missense c.274 p.R92C 0.004 NULL NULL - no_errors LINC00692 HGNC ENSG00000230891 31 0 0 20 5 20 LRRC3B 0 genome.wustl.edu 37 3 26751789 26751789 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 26751789 26751789 C T SNP LRRC3B ENST00000396641 human ensembl 74_37 +1 known missense c.626 p.T209I 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 37 0 0 26 6 18.75 SLC4A7 0 genome.wustl.edu 37 3 27453218 27453218 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 27453218 27453218 A G SNP SLC4A7 ENST00000454389 human ensembl 74_37 -1 known missense c.1681 p.F561L 1.000 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk - no_errors SLC4A7 HGNC ENSG00000033867 34 0 0 18 5 21.7391 SLC4A7 0 genome.wustl.edu 37 3 27463207 27463207 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 27463207 27463207 C T SNP SLC4A7 ENST00000454389 human ensembl 74_37 -1 known missense c.1330 p.E444K 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,tigrfam_HCO3_transpt_euk - no_errors SLC4A7 HGNC ENSG00000033867 73 0 0 53 9 14.5161 CNOT10 0 genome.wustl.edu 37 3 32769301 32769301 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 32769301 32769301 A G SNP CNOT10 ENST00000454516 human ensembl 74_37 +1 known missense c.1334 p.Y445C 1.000 smart_TPR_repeat pfam_TPR_1,smart_TPR_repeat - no_errors CNOT10 HGNC ENSG00000182973 62 0 0 26 7 21.2121 CNOT10 0 genome.wustl.edu 37 3 32800967 32800967 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 32800967 32800967 G A SNP CNOT10 ENST00000454516 human ensembl 74_37 +1 known missense c.1793 p.C598Y 1.000 NULL pfam_TPR_1,smart_TPR_repeat - no_errors CNOT10 HGNC ENSG00000182973 434 0 0 333 65 16.3317 TMPPE 0 genome.wustl.edu 37 3 33134737 33134737 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 33134737 33134737 A G SNP TMPPE ENST00000342462 human ensembl 74_37 -1 known silent c.951 p.G317 0.852 pfam_PEstase_dom pfam_PEstase_dom - no_errors TMPPE HGNC ENSG00000188167 100 1 0.990099 63 12 16 SUSD5 0 genome.wustl.edu 37 3 33194480 33194480 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 33194480 33194480 C T SNP SUSD5 ENST00000309558 human ensembl 74_37 -1 known silent c.1644 p.G548 0.012 NULL pfam_Link,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Link,pfscan_Link,pfscan_Sushi_SCR_CCP - no_errors SUSD5 HGNC ENSG00000173705 30 0 0 17 12 41.3793 STAC 0 genome.wustl.edu 37 3 36485023 36485023 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 36485023 36485023 G A SNP STAC ENST00000273183 human ensembl 74_37 +1 known silent c.279 p.T93 0.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors STAC HGNC ENSG00000144681 97 0 0 57 19 25 TRANK1 0 genome.wustl.edu 37 3 36897095 36897095 + Missense_Mutation SNP T T G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 36897095 36897095 T G SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.3986 p.Y1329S 1.000 pfam_UvrD-like_ATP-bd,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 99 0 0 56 20 26.3158 ACVR2B 0 genome.wustl.edu 37 3 38519934 38519934 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 38519934 38519934 T C SNP ACVR2B ENST00000352511 human ensembl 74_37 +1 known silent c.591 p.A197 0.095 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 ACVR2B HGNC ENSG00000114739 30 0 0 21 8 27.5862 SCN10A 0 genome.wustl.edu 37 3 38802798 38802798 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 38802798 38802798 G A SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known silent c.768 p.C256 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 68 0 0 52 7 11.8644 LRRN1 0 genome.wustl.edu 37 3 3886509 3886509 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 3886509 3886509 C T SNP LRRN1 ENST00000319331 human ensembl 74_37 +1 known missense c.184 p.R62C 1.000 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 132 0 0 83 29 25.8929 SNRK 0 genome.wustl.edu 37 3 43389492 43389492 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 43389492 43389492 G A SNP SNRK ENST00000296088 human ensembl 74_37 +1 known missense c.1741 p.G581R 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 20 0 0 17 4 19.0476 ELP6 0 genome.wustl.edu 37 3 47537600 47537600 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 47537600 47537600 C T SNP ELP6 ENST00000296149 human ensembl 74_37 -1 known missense c.760 p.V254M 0.996 NULL pfam_UPF0405 - no_errors ELP6 HGNC ENSG00000163832 63 0 0 43 9 17.3077 PLXNB1 0 genome.wustl.edu 37 3 48459755 48459755 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 48459755 48459755 A G SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known missense c.3067 p.S1023P 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 27 0 0 12 6 33.3333 COL7A1 0 genome.wustl.edu 37 3 48628013 48628013 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 48628013 48628013 C T SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known silent c.1785 p.P595 0.005 superfamily_Fibronectin_type3 pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 48 0 0 20 22 52.381 COL7A1 0 genome.wustl.edu 37 3 48630677 48630677 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 48630677 48630677 A G SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known silent c.540 p.P180 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 88 0 0 53 13 19.697 P4HTM 0 genome.wustl.edu 37 3 49038942 49038942 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 49038942 49038942 C T SNP P4HTM ENST00000343546 human ensembl 74_37 +1 known missense c.508 p.R170C 1.000 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 37 0 0 25 9 26.4706 WDR6 0 genome.wustl.edu 37 3 49051263 49051263 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 49051263 49051263 G A SNP WDR6 ENST00000395474 human ensembl 74_37 +1 known missense c.2386 p.A796T 0.005 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ENSG00000178252 46 0 0 31 9 22.5 BSN 0 genome.wustl.edu 37 3 49693858 49693858 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 49693858 49693858 C T SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.6869 p.A2290V 0.779 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 47 0 0 31 13 29.5455 RNF123 0 genome.wustl.edu 37 3 49736537 49736537 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 49736537 49736537 C T SNP RNF123 ENST00000327697 human ensembl 74_37 +1 known missense c.763 p.R255C 1.000 superfamily_ConA-like_lec_gl_sf pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RNF123 HGNC ENSG00000164068 59 0 0 61 15 19.7368 AMIGO3 0 genome.wustl.edu 37 3 49756812 49756812 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 49756812 49756812 A G SNP AMIGO3 ENST00000320431 human ensembl 74_37 -1 known silent c.87 p.R29 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors AMIGO3 HGNC ENSG00000176020 40 0 0 43 16 27.1186 ABHD14B 0 genome.wustl.edu 37 3 52003908 52003908 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 52003908 52003908 C T SNP ABHD14B ENST00000461108 human ensembl 74_37 -1 putative silent c.504 p.V168 0.000 NULL NULL - no_errors ABHD14B HGNC ENSG00000114779 70 0 0 37 12 24.4898 BAP1 0 genome.wustl.edu 37 3 52443885 52443885 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 52443885 52443885 C A SNP BAP1 ENST00000460680 human ensembl 74_37 -1 known missense c.10 p.G4C 1.000 pfam_Peptidase_C12 pfam_Peptidase_C12,prints_Peptidase_C12 - no_errors BAP1 HGNC ENSG00000163930 11 0 0 19 4 17.3913 EDEM1 0 genome.wustl.edu 37 3 5244713 5244713 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 5244713 5244713 T C SNP EDEM1 ENST00000256497 human ensembl 74_37 +1 known silent c.921 p.G307 0.224 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM1 HGNC ENSG00000134109 111 0 0 77 24 23.7624 SEMA3G 0 genome.wustl.edu 37 3 52472110 52472110 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 52472110 52472110 A G SNP SEMA3G ENST00000231721 human ensembl 74_37 -1 known missense c.1615 p.Y539H 1.000 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3G HGNC ENSG00000010319 15 0 0 23 4 14.8148 NISCH 0 genome.wustl.edu 37 3 52491918 52491918 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 52491918 52491918 C T SNP NISCH ENST00000345716 human ensembl 74_37 +1 known silent c.153 p.S51 0.978 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC ENSG00000010322 203 0 0 99 69 41.0714 NISCH 0 genome.wustl.edu 37 3 52522418 52522418 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 52522418 52522418 C T SNP NISCH ENST00000345716 human ensembl 74_37 +1 known silent c.2910 p.H970 0.680 NULL pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC ENSG00000010322 50 0 0 60 14 18.9189 DNASE1L3 0 genome.wustl.edu 37 3 58183580 58183580 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 58183580 58183580 C T SNP DNASE1L3 ENST00000318316 human ensembl 74_37 -1 known silent c.672 p.T224 0.007 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,pirsf_DNase_I,prints_DNase_I pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,pirsf_DNase_I,prints_DNase_I - no_errors DNASE1L3 HGNC ENSG00000163687 63 0 0 32 11 25.5814 ACOX2 0 genome.wustl.edu 37 3 58516206 58516206 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 58516206 58516206 G A SNP ACOX2 ENST00000302819 human ensembl 74_37 -1 known missense c.979 p.R327W 0.253 superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX2 HGNC ENSG00000168306 35 0 0 22 11 33.3333 GRM7 0 genome.wustl.edu 37 3 6903265 6903265 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 6903265 6903265 G A SNP GRM7 ENST00000402647 human ensembl 74_37 +1 known missense c.190 p.G64R 1.000 superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 14 0 0 5 5 50 LMOD3 0 genome.wustl.edu 37 3 69171388 69171388 + Silent SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 69171388 69171388 C A SNP LMOD3 ENST00000420581 human ensembl 74_37 -1 known silent c.150 p.V50 1.000 pfam_Tropomodulin pfam_Tropomodulin - no_errors LMOD3 HGNC ENSG00000163380 36 0 0 22 8 26.6667 PDZRN3 0 genome.wustl.edu 37 3 73433392 73433392 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 73433392 73433392 G A SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known silent c.2325 p.P775 0.985 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 32 0 0 24 6 20 ROBO1 0 genome.wustl.edu 37 3 78663931 78663931 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 78663931 78663931 C T SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known silent c.4302 p.A1434 0.458 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 19 0 0 13 6 31.5789 POU1F1 0 genome.wustl.edu 37 3 87322591 87322591 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 87322591 87322591 C T SNP POU1F1 ENST00000344265 human ensembl 74_37 -1 known silent c.198 p.S66 0.997 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU1F1 HGNC ENSG00000064835 47 0 0 25 5 16.6667 OR5K4 0 genome.wustl.edu 37 3 98073327 98073327 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 98073327 98073327 C T SNP OR5K4 ENST00000354924 human ensembl 74_37 +1 known silent c.630 p.T210 0.004 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5K4 HGNC ENSG00000196098 57 0 0 49 9 15.5172 OR5K3 0 genome.wustl.edu 37 3 98110293 98110293 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 98110293 98110293 G A SNP OR5K3 ENST00000383695 human ensembl 74_37 +1 known missense c.784 p.A262T 0.185 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 OR5K3 HGNC ENSG00000206536 71 0 0 56 20 26.3158 TADA3 0 genome.wustl.edu 37 3 9822157 9822157 + Missense_Mutation SNP A A C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 9822157 9822157 A C SNP TADA3 ENST00000301964 human ensembl 74_37 -1 known missense c.1183 p.F395V 1.000 pfam_Histone_AcTrfase_su3 pfam_Histone_AcTrfase_su3 - no_errors TADA3 HGNC ENSG00000171148 37 0 0 37 9 19.5652 ST3GAL6 0 genome.wustl.edu 37 3 98510829 98510829 + Missense_Mutation SNP A A T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 98510829 98510829 A T SNP ST3GAL6 ENST00000394162 human ensembl 74_37 +1 known missense c.901 p.M301L 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL6 HGNC ENSG00000064225 97 0 0 71 23 24.4681 MANBA 0 genome.wustl.edu 37 4 103556169 103556169 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 103556169 103556169 C T SNP MANBA ENST00000226578 human ensembl 74_37 -1 known missense c.2191 p.V731M 0.000 NULL pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like - no_errors MANBA HGNC ENSG00000109323 42 0 0 21 9 30 GSTCD 0 genome.wustl.edu 37 4 106746920 106746920 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 106746920 106746920 C T SNP GSTCD ENST00000360505 human ensembl 74_37 +1 known missense c.1493 p.A498V 1.000 pfam_rRNA_ssu_MeTfrase_G,pfam_Small_mtfrase_dom pfam_rRNA_ssu_MeTfrase_G,pfam_Small_mtfrase_dom,superfamily_Glutathione-S-Trfase_C-like - no_errors GSTCD HGNC ENSG00000138780 66 0 0 47 7 12.963 TBCK 0 genome.wustl.edu 37 4 107170076 107170076 + Splice_Site SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 107170076 107170076 A G SNP TBCK ENST00000273980 human ensembl 74_37 -1 known splice_site c.720+2 e7+2 1.000 - - - no_errors TBCK HGNC ENSG00000145348 53 0 0 15 9 37.5 CFI 0 genome.wustl.edu 37 4 110667573 110667573 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 110667573 110667573 C T SNP CFI ENST00000394634 human ensembl 74_37 -1 known missense c.1234 p.V412M 0.024 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_FacI_MAC,smart_Srcr_rcpt-rel,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_LDrepeatLR_classA_rpt,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors CFI HGNC ENSG00000205403 45 0 0 23 10 30.303 USP53 0 genome.wustl.edu 37 4 120177654 120177654 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 120177654 120177654 G A SNP USP53 ENST00000274030 human ensembl 74_37 +1 known missense c.545 p.R182Q 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP53 HGNC ENSG00000145390 73 0 0 39 11 22 PDE5A 0 genome.wustl.edu 37 4 120419827 120419827 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 120419827 120419827 A G SNP PDE5A ENST00000354960 human ensembl 74_37 -1 known missense c.2557 p.W853R 1.000 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE5A HGNC ENSG00000138735 106 0 0 66 18 21.4286 PDE5A 0 genome.wustl.edu 37 4 120484020 120484020 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 120484020 120484020 A G SNP PDE5A ENST00000354960 human ensembl 74_37 -1 known missense c.1099 p.C367R 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE5A HGNC ENSG00000138735 60 0 0 30 22 42.3077 KIAA1109 0 genome.wustl.edu 37 4 123227177 123227177 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 123227177 123227177 C T SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.9818 p.A3273V 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 102 0 0 55 16 22.5352 FAT4 0 genome.wustl.edu 37 4 126373243 126373243 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 126373243 126373243 G T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.11072 p.S3691I 0.960 superfamily_Cadherin-like 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 117 0 0 76 28 26.9231 PCDH10 0 genome.wustl.edu 37 4 134071765 134071765 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 134071765 134071765 G A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.470 p.R157H 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 75 0 0 36 16 30.7692 MAML3 0 genome.wustl.edu 37 4 140811854 140811854 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 140811854 140811854 T C SNP MAML3 ENST00000509479 human ensembl 74_37 -1 known missense c.736 p.N246D 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 104 0 0 66 15 18.5185 RPS3A 0 genome.wustl.edu 37 4 152024153 152024153 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 152024153 152024153 G A SNP RPS3A ENST00000274065 human ensembl 74_37 +1 known missense c.485 p.R162H 1.000 pfam_Ribosomal_S3Ae pfam_Ribosomal_S3Ae - no_errors RPS3A HGNC ENSG00000145425 36 0 0 12 5 29.4118 PRSS48 0 genome.wustl.edu 37 4 152212409 152212409 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 152212409 152212409 C T SNP PRSS48 ENST00000455694 human ensembl 74_37 +1 known missense c.791 p.A264V 0.001 superfamily_Trypsin-like_Pept_dom,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 PRSS48 HGNC ENSG00000189099 138 0 0 56 19 25.3333 FAM198B 0 genome.wustl.edu 37 4 159092437 159092437 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 159092437 159092437 G A SNP FAM198B ENST00000393807 human ensembl 74_37 -1 known missense c.91 p.R31C 1.000 NULL NULL - no_errors FAM198B HGNC ENSG00000164125 37 0 0 11 8 42.1053 RAPGEF2 0 genome.wustl.edu 37 4 160274685 160274685 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 160274685 160274685 A G SNP RAPGEF2 ENST00000264431 human ensembl 74_37 +1 known missense c.3655 p.T1219A 0.995 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 79 0 0 54 5 8.47458 KLHL2 0 genome.wustl.edu 37 4 166232663 166232663 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 166232663 166232663 C A SNP KLHL2 ENST00000226725 human ensembl 74_37 +1 known missense c.1285 p.H429N 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 KLHL2 HGNC ENSG00000109466 120 0 0 62 18 22.5 PALLD 0 genome.wustl.edu 37 4 169433418 169433418 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 169433418 169433418 C T SNP PALLD ENST00000261509 human ensembl 74_37 +1 known missense c.763 p.R255C 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 81 0 0 40 14 25.9259 AADAT 0 genome.wustl.edu 37 4 171009703 171009703 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 171009703 171009703 C T SNP AADAT ENST00000509167 human ensembl 74_37 -1 known missense c.92 p.S31N 0.000 superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors AADAT HGNC ENSG00000109576 88 0 0 47 13 21.6667 GALNTL6 0 genome.wustl.edu 37 4 173942662 173942662 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 173942662 173942662 C T SNP GALNTL6 ENST00000506823 human ensembl 74_37 +1 known silent c.1524 p.P508 0.378 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 GALNTL6 HGNC ENSG00000174473 118 0 0 57 21 26.9231 STOX2 0 genome.wustl.edu 37 4 184930482 184930482 + Missense_Mutation SNP T T A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 184930482 184930482 T A SNP STOX2 ENST00000308497 human ensembl 74_37 +1 known missense c.491 p.I164K 1.000 NULL pfam_Storkhead-box_winged-helix - no_errors STOX2 HGNC ENSG00000173320 53 0 0 37 17 31.4815 IRF2 0 genome.wustl.edu 37 4 185339859 185339859 + Missense_Mutation SNP T T G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 185339859 185339859 T G SNP IRF2 ENST00000393593 human ensembl 74_37 -1 known missense c.191 p.K64T 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 29 0 0 17 6 26.087 FAT1 0 genome.wustl.edu 37 4 187540301 187540301 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 187540301 187540301 A G SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.7439 p.V2480A 0.175 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 280 0 0 165 11 6.25 ZFYVE28 0 genome.wustl.edu 37 4 2339147 2339147 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 2339147 2339147 C T SNP ZFYVE28 ENST00000290974 human ensembl 74_37 -1 known missense c.598 p.E200K 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE28 HGNC ENSG00000159733 10 0 0 4 6 60 RBPJ 0 genome.wustl.edu 37 4 26431567 26431567 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 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 61 0 0 36 11 23.4043 RGS12 0 genome.wustl.edu 37 4 3430399 3430399 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 3430399 3430399 A G SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known missense c.3526 p.K1176E 1.000 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 51 0 0 36 11 23.4043 ATP8A1 0 genome.wustl.edu 37 4 42580304 42580304 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 42580304 42580304 T C SNP ATP8A1 ENST00000381668 human ensembl 74_37 -1 known silent c.1101 p.K367 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A1 HGNC ENSG00000124406 58 0 0 26 8 23.5294 FRYL 0 genome.wustl.edu 37 4 48545976 48545976 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 48545976 48545976 G T SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.5440 p.L1814M 0.993 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 61 0 0 30 11 26.8293 USP46 0 genome.wustl.edu 37 4 53492381 53492381 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 53492381 53492381 T C SNP USP46 ENST00000441222 human ensembl 74_37 -1 known missense c.365 p.H122R 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP46 HGNC ENSG00000109189 43 0 0 23 11 32.3529 NMU 0 genome.wustl.edu 37 4 56471505 56471505 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 56471505 56471505 C T SNP NMU ENST00000264218 human ensembl 74_37 -1 known silent c.372 p.V124 0.997 NULL pfam_NMU_C,smart_NMU_C - no_errors NMU HGNC ENSG00000109255 100 0 0 53 21 28.3784 EVC 0 genome.wustl.edu 37 4 5720985 5720985 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 5720985 5720985 C T SNP EVC ENST00000264956 human ensembl 74_37 +1 known missense c.185 p.T62I 0.001 NULL NULL - no_errors EVC HGNC ENSG00000072840 136 0 0 61 21 25.6098 PDE6B 0 genome.wustl.edu 37 4 628573 628573 + Silent SNP A A C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 628573 628573 A C SNP PDE6B ENST00000496514 human ensembl 74_37 +1 known silent c.576 p.A192 0.006 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC ENSG00000133256 57 0 0 25 7 21.875 UBA6 0 genome.wustl.edu 37 4 68492086 68492086 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 68492086 68492086 G A SNP UBA6 ENST00000322244 human ensembl 74_37 -1 known missense c.2510 p.A837V 1.000 superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA6 HGNC ENSG00000033178 46 0 0 19 9 32.1429 GRPEL1 0 genome.wustl.edu 37 4 7064112 7064112 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 7064112 7064112 C T SNP GRPEL1 ENST00000264954 human ensembl 74_37 -1 known missense c.307 p.G103S 1.000 pfam_GrpE pfam_GrpE,superfamily_GrpE_head,prints_GrpE - no_errors GRPEL1 HGNC ENSG00000109519 105 0 0 59 26 30.5882 SULT1E1 0 genome.wustl.edu 37 4 70723269 70723269 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 70723269 70723269 C T SNP SULT1E1 ENST00000226444 human ensembl 74_37 -1 known missense c.94 p.A32T 0.000 superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1E1 HGNC ENSG00000109193 90 0 0 39 12 23.5294 MUC7 0 genome.wustl.edu 37 4 71346558 71346558 + Silent SNP A A C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 71346558 71346558 A C SNP MUC7 ENST00000304887 human ensembl 74_37 +1 known silent c.97 p.R33 0.000 NULL NULL - no_errors MUC7 HGNC ENSG00000171195 136 0 0 84 26 23.6364 PF4V1 0 genome.wustl.edu 37 4 74719777 74719777 + Missense_Mutation SNP A A T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 74719777 74719777 A T SNP PF4V1 ENST00000226524 human ensembl 74_37 +1 known missense c.253 p.I85F 0.089 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 73 0 0 41 14 25.4545 G3BP2 0 genome.wustl.edu 37 4 76570792 76570792 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 76570792 76570792 C A SNP G3BP2 ENST00000359707 human ensembl 74_37 -1 known missense c.1271 p.R424L 1.000 NULL pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors G3BP2 HGNC ENSG00000138757 86 0 0 42 11 20.7547 PPEF2 0 genome.wustl.edu 37 4 76797721 76797721 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 76797721 76797721 A G SNP PPEF2 ENST00000286719 human ensembl 74_37 -1 known missense c.1039 p.F347L 0.996 pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_dom,prints_Ser/Thr-sp_prot-phosphatase,pfscan_EF_hand_dom - no_errors PPEF2 HGNC ENSG00000156194 37 0 0 15 5 25 RASGEF1B 0 genome.wustl.edu 37 4 82377784 82377784 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 82377784 82377784 C T SNP RASGEF1B ENST00000436139 human ensembl 74_37 -1 putative silent c.459 p.A153 0.001 superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1B HGNC ENSG00000138670 64 0 0 35 7 16.6667 PDLIM5 0 genome.wustl.edu 37 4 95496980 95496980 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 95496980 95496980 G A SNP PDLIM5 ENST00000317968 human ensembl 74_37 +1 known missense c.505 p.V169I 1.000 NULL pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM5 HGNC ENSG00000163110 147 0 0 56 27 32.5301 EFNA5 0 genome.wustl.edu 37 5 106763016 106763016 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 106763016 106763016 G A SNP EFNA5 ENST00000333274 human ensembl 74_37 -1 known missense c.320 p.S107F 1.000 pfam_Ephrin,superfamily_Cupredoxin pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNA5 HGNC ENSG00000184349 80 0 0 51 17 25 SLC12A7 0 genome.wustl.edu 37 5 1081765 1081765 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 1081765 1081765 T C SNP SLC12A7 ENST00000264930 human ensembl 74_37 -1 known silent c.1224 p.A408 0.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 45 0 0 24 11 31.4286 EPB41L4A 0 genome.wustl.edu 37 5 111575375 111575375 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 111575375 111575375 C T SNP EPB41L4A ENST00000261486 human ensembl 74_37 -1 known missense c.947 p.R316H 0.988 pfam_FERM-adjacent pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4A HGNC ENSG00000129595 26 0 0 12 6 33.3333 EPB41L4A 0 genome.wustl.edu 37 5 111576502 111576502 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 111576502 111576502 G A SNP EPB41L4A ENST00000261486 human ensembl 74_37 -1 known silent c.801 p.N267 0.999 pfam_FERM_PH-like_C,pfscan_FERM_domain pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4A HGNC ENSG00000129595 44 0 0 16 7 30.4348 KCNN2 0 genome.wustl.edu 37 5 113698843 113698843 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 113698843 113698843 G A SNP KCNN2 ENST00000264773 human ensembl 74_37 +1 known missense c.371 p.R124Q 1.000 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 KCNN2 HGNC ENSG00000080709 14 0 0 6 6 50 TICAM2 0 genome.wustl.edu 37 5 114916761 114916761 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 114916761 114916761 C T SNP TICAM2 ENST00000408996 human ensembl 74_37 -1 known missense c.700 p.V234M 0.000 NULL pfam_GOLD,pfam_TIR_dom,superfamily_GOLD,superfamily_TIR_dom,pfscan_GOLD,pfscan_TIR_dom - no_errors TICAM2 HGNC ENSG00000243414 282 0 0 151 44 22.5641 HSD17B4 0 genome.wustl.edu 37 5 118792054 118792054 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 118792054 118792054 T C SNP HSD17B4 ENST00000504811 human ensembl 74_37 +1 putative missense c.113 p.V38A 0.952 NULL pfam_MaoC_dom,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC ENSG00000133835 88 0 0 50 17 25.3731 LOX 0 genome.wustl.edu 37 5 121409818 121409818 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 121409818 121409818 C T SNP LOX ENST00000231004 human ensembl 74_37 -1 known missense c.925 p.A309T 1.000 pfam_Lysyl_oxidase,prints_Lysyl_oxidase pfam_Lysyl_oxidase,prints_Lysyl_oxidase - no_errors LOX HGNC ENSG00000113083 98 0 0 30 15 33.3333 RAD50 0 genome.wustl.edu 37 5 131972826 131972826 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 131972826 131972826 A G SNP RAD50 ENST00000265335 human ensembl 74_37 +1 known missense c.3409 p.S1137G 1.000 superfamily_P-loop_NTPase,tigrfam_Rad50_eukaryotes pfam_Rad50_Zn_hook,superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes - no_errors RAD50 HGNC ENSG00000113522 199 0 0 115 34 22.8188 AFF4 0 genome.wustl.edu 37 5 132232456 132232456 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 132232456 132232456 T C SNP AFF4 ENST00000265343 human ensembl 74_37 -1 known silent c.1866 p.R622 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF4 HGNC ENSG00000072364 47 0 0 30 6 16.6667 CLPTM1L 0 genome.wustl.edu 37 5 1334411 1334411 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 1334411 1334411 G A SNP CLPTM1L ENST00000320895 human ensembl 74_37 -1 known missense c.884 p.A295V 0.997 pfam_CLPTM1 pfam_CLPTM1 - no_errors CLPTM1L HGNC ENSG00000049656 44 0 0 22 12 35.2941 SMAD5 0 genome.wustl.edu 37 5 135510101 135510101 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 135510101 135510101 C T SNP SMAD5 ENST00000545279 human ensembl 74_37 +1 known missense c.1034 p.A345V 1.000 pfam_SMAD_dom_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type 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 SMAD5 HGNC ENSG00000113658 103 0 0 44 14 24.1379 TRPC7 0 genome.wustl.edu 37 5 135692700 135692700 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 135692700 135692700 G A SNP TRPC7 ENST00000513104 human ensembl 74_37 -1 known missense c.376 p.L126F 1.000 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,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC7 HGNC ENSG00000069018 29 0 0 18 4 18.1818 KDM3B 0 genome.wustl.edu 37 5 137717276 137717276 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 137717276 137717276 C T SNP KDM3B ENST00000314358 human ensembl 74_37 +1 known silent c.777 p.S259 0.040 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 54 0 0 19 10 34.4828 TMCO6 0 genome.wustl.edu 37 5 140024251 140024251 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 140024251 140024251 C T SNP TMCO6 ENST00000252100 human ensembl 74_37 +1 known silent c.1312 p.L438 0.079 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo,pfscan_Importin-a_IBB - no_errors TMCO6 HGNC ENSG00000113119 138 0 0 116 7 5.69106 PCDHA1 0 genome.wustl.edu 37 5 140165915 140165915 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 140165915 140165915 C A SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known missense c.40 p.L14M 0.609 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 68 0 0 33 13 28.2609 PCDHA3 0 genome.wustl.edu 37 5 140181913 140181913 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 140181913 140181913 C T SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known silent c.1131 p.R377 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 PCDHA3 HGNC ENSG00000255408 118 0 0 56 16 22.2222 PCDHA4 0 genome.wustl.edu 37 5 140188818 140188818 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 140188818 140188818 G A SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known silent c.2046 p.A682 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 51 0 0 22 13 37.1429 PCDHA7 0 genome.wustl.edu 37 5 140215781 140215781 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 140215781 140215781 G A SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known missense c.1813 p.A605T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 72 0 0 50 16 24.2424 PCDHA9 0 genome.wustl.edu 37 5 140229616 140229616 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 140229616 140229616 G A SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known silent c.1536 p.A512 0.996 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 71 0 0 40 7 14.8936 PCDHA10 0 genome.wustl.edu 37 5 140236079 140236079 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 140236079 140236079 C A SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known missense c.446 p.S149Y 0.157 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 176 1 0.564972 102 39 27.6596 PCDHA11 0 genome.wustl.edu 37 5 140249397 140249397 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 140249397 140249397 G A SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.709 p.D237N 1.000 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 27 0 0 15 12 44.4444 PCDHB5 0 genome.wustl.edu 37 5 140516378 140516378 + Silent SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 140516378 140516378 C A SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known silent c.1362 p.S454 0.911 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 173 1 0.574713 98 33 25.1908 PCDHB11 0 genome.wustl.edu 37 5 140581504 140581504 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 140581504 140581504 G A SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known silent c.2157 p.A719 0.052 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 94 0 0 53 14 20.8955 PCDHB15 0 genome.wustl.edu 37 5 140626516 140626516 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 140626516 140626516 C T SNP PCDHB15 ENST00000231173 human ensembl 74_37 +1 known missense c.1370 p.T457I 0.035 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB15 HGNC ENSG00000113248 114 0 0 53 15 22.0588 PCDHGA10 0 genome.wustl.edu 37 5 140794641 140794641 + Silent SNP G G C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 140794641 140794641 G C SNP PCDHGA10 ENST00000398610 human ensembl 74_37 +1 known silent c.1899 p.A633 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA10 HGNC ENSG00000253846 72 0 0 24 13 35.1351 PCDHGA11 0 genome.wustl.edu 37 5 140801363 140801363 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 140801363 140801363 C T SNP PCDHGA11 ENST00000398587 human ensembl 74_37 +1 known missense c.569 p.A190V 0.031 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 47 0 0 18 12 40 PCDHGC3 0 genome.wustl.edu 37 5 140856231 140856231 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 140856231 140856231 G A SNP PCDHGC3 ENST00000308177 human ensembl 74_37 +1 known missense c.548 p.R183H 0.783 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 PCDHGC3 HGNC ENSG00000240184 35 0 0 26 13 33.3333 DIAPH1 0 genome.wustl.edu 37 5 140896555 140896555 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 140896555 140896555 C T SNP DIAPH1 ENST00000253811 human ensembl 74_37 -1 known missense c.3685 p.A1229T 1.000 NULL 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 48 0 0 30 7 18.9189 PCDH12 0 genome.wustl.edu 37 5 141336022 141336022 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 141336022 141336022 A G SNP PCDH12 ENST00000231484 human ensembl 74_37 -1 known silent c.1395 p.Y465 0.410 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC ENSG00000113555 105 0 0 44 12 21.4286 GNPDA1 0 genome.wustl.edu 37 5 141384619 141384619 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 141384619 141384619 G A SNP GNPDA1 ENST00000311337 human ensembl 74_37 -1 known missense c.472 p.R158C 1.000 pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase - no_errors GNPDA1 HGNC ENSG00000113552 21 0 0 15 5 25 ADRB2 0 genome.wustl.edu 37 5 148207339 148207339 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 148207339 148207339 C T SNP ADRB2 ENST00000305988 human ensembl 74_37 +1 known silent c.945 p.G315 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRB2_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRB2 HGNC ENSG00000169252 73 0 0 41 16 28.0702 AFAP1L1 0 genome.wustl.edu 37 5 148699169 148699169 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 148699169 148699169 C T SNP AFAP1L1 ENST00000296721 human ensembl 74_37 +1 known missense c.1504 p.R502C 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1L1 HGNC ENSG00000157510 39 0 0 24 11 31.4286 TIGD6 0 genome.wustl.edu 37 5 149375760 149375760 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 149375760 149375760 C T SNP TIGD6 ENST00000296736 human ensembl 74_37 -1 known missense c.152 p.R51H 0.000 pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD6 HGNC ENSG00000164296 65 0 0 30 11 26.8293 SYNPO 0 genome.wustl.edu 37 5 150029539 150029539 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 150029539 150029539 C T SNP SYNPO ENST00000394243 human ensembl 74_37 +1 known missense c.2434 p.R812C 0.999 NULL NULL - no_errors SYNPO HGNC ENSG00000171992 73 0 0 32 22 40.7407 RBM22 0 genome.wustl.edu 37 5 150075217 150075217 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 150075217 150075217 T C SNP RBM22 ENST00000199814 human ensembl 74_37 -1 known silent c.597 p.K199 1.000 NULL pfam_RRM_dom,superfamily_Znf_CCHC,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM22 HGNC ENSG00000086589 64 0 0 34 15 30.6122 FAT2 0 genome.wustl.edu 37 5 150932868 150932868 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 150932868 150932868 C T SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known silent c.4026 p.P1342 0.206 smart_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 39 0 0 24 10 29.4118 DOCK2 0 genome.wustl.edu 37 5 169477279 169477279 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 169477279 169477279 G A SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.4091 p.R1364H 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 190 0 0 96 30 23.8095 HRH2 0 genome.wustl.edu 37 5 175110585 175110585 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 175110585 175110585 T C SNP HRH2 ENST00000377291 human ensembl 74_37 +1 known missense c.349 p.Y117H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT6_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_rcpt,prints_GPCR_Rhodpsn,prints_5HT6_rcpt - no_errors HRH2 HGNC ENSG00000113749 62 0 0 34 11 24.4444 EIF4E1B 0 genome.wustl.edu 37 5 176072487 176072487 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 176072487 176072487 C T SNP EIF4E1B ENST00000318682 human ensembl 74_37 +1 known missense c.584 p.A195V 0.823 pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom - no_errors EIF4E1B HGNC ENSG00000175766 25 0 0 13 8 38.0952 HK3 0 genome.wustl.edu 37 5 176308391 176308391 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 176308391 176308391 C T SNP HK3 ENST00000292432 human ensembl 74_37 -1 known missense c.2539 p.V847M 1.000 pfam_Hexokinase_C,prints_Hexokinase pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK3 HGNC ENSG00000160883 43 0 0 22 8 26.6667 ZFP2 0 genome.wustl.edu 37 5 178359697 178359697 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 178359697 178359697 G A SNP ZFP2 ENST00000361362 human ensembl 74_37 +1 known silent c.1383 p.T461 0.069 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP2 HGNC ENSG00000198939 53 0 0 29 11 27.5 MGAT4B 0 genome.wustl.edu 37 5 179227025 179227025 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 179227025 179227025 A G SNP MGAT4B ENST00000337755 human ensembl 74_37 -1 known missense c.884 p.M295T 1.000 pfam_Glyco_transf_54 pfam_Glyco_transf_54 - no_errors MGAT4B HGNC ENSG00000161013 77 0 0 45 15 25 TRIM7 0 genome.wustl.edu 37 5 180622608 180622608 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 180622608 180622608 C T SNP TRIM7 ENST00000274773 human ensembl 74_37 -1 known missense c.1094 p.R365H 0.985 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM7 HGNC ENSG00000146054 26 0 0 13 6 31.5789 CDH18 0 genome.wustl.edu 37 5 19473667 19473667 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 19473667 19473667 C T SNP CDH18 ENST00000274170 human ensembl 74_37 -1 known missense c.2041 p.A681T 0.995 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH18 HGNC ENSG00000145526 121 0 0 78 13 14.2857 CDH12 0 genome.wustl.edu 37 5 21842333 21842333 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 21842333 21842333 C T SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.751 p.G251R 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 91 0 0 52 18 25.7143 GOLPH3 0 genome.wustl.edu 37 5 32126538 32126538 + Missense_Mutation SNP A A C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 32126538 32126538 A C SNP GOLPH3 ENST00000265070 human ensembl 74_37 -1 known missense c.677 p.V226G 1.000 pfam_GPP34 pfam_GPP34 - no_errors GOLPH3 HGNC ENSG00000113384 74 0 0 56 20 26.3158 SUB1 0 genome.wustl.edu 37 5 32599082 32599082 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 32599082 32599082 T C SNP SUB1 ENST00000265073 human ensembl 74_37 +1 known missense c.211 p.Y71H 1.000 pfam_PC4,superfamily_ssDNA-bd_transcriptional_reg pfam_PC4,superfamily_ssDNA-bd_transcriptional_reg - no_errors SUB1 HGNC ENSG00000113387 61 0 0 27 13 32.5 AMACR 0 genome.wustl.edu 37 5 34004719 34004719 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 34004719 34004719 C T SNP AMACR ENST00000335606 human ensembl 74_37 -1 known missense c.512 p.R171H 1.000 pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom - no_errors AMACR HGNC ENSG00000242110 143 0 0 75 18 19.3548 DNAJC21 0 genome.wustl.edu 37 5 34954762 34954762 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 34954762 34954762 G A SNP DNAJC21 ENST00000382021 human ensembl 74_37 +1 known silent c.1674 p.S558 0.051 NULL pfam_DnaJ_domain,pfam_Znf_C2H2_jaz,superfamily_DnaJ_domain,smart_DnaJ_domain,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC21 HGNC ENSG00000168724 96 0 0 55 15 21.4286 EGFLAM 0 genome.wustl.edu 37 5 38370555 38370555 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 38370555 38370555 C T SNP EGFLAM ENST00000354891 human ensembl 74_37 +1 known missense c.703 p.R235W 0.983 pfscan_Fibronectin_type3 pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 22 0 0 17 5 22.7273 AHRR 0 genome.wustl.edu 37 5 434067 434067 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 434067 434067 G A SNP AHRR ENST00000316418 human ensembl 74_37 +1 known silent c.1278 p.A426 0.001 NULL pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors AHRR HGNC ENSG00000063438 17 0 0 12 4 25 ADAMTS16 0 genome.wustl.edu 37 5 5209338 5209338 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 5209338 5209338 C T SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known silent c.1584 p.L528 0.708 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 95 0 0 32 26 44.8276 DIMT1 0 genome.wustl.edu 37 5 61686760 61686760 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 61686760 61686760 G A SNP DIMT1 ENST00000199320 human ensembl 74_37 -1 known missense c.842 p.T281I 1.000 tigrfam_rRNA_adenine_dimethylase pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,tigrfam_rRNA_adenine_dimethylase - no_errors DIMT1 HGNC ENSG00000086189 150 0 0 85 28 24.7788 ADAMTS6 0 genome.wustl.edu 37 5 64756033 64756033 + Nonsense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 64756033 64756033 G A SNP ADAMTS6 ENST00000381055 human ensembl 74_37 -1 known nonsense c.595 p.R199* 0.982 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS6 HGNC ENSG00000049192 118 1 0.840336 54 19 26.0274 MAST4 0 genome.wustl.edu 37 5 66430464 66430464 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 66430464 66430464 C T SNP MAST4 ENST00000404260 human ensembl 74_37 +1 known silent c.2349 p.C783 0.884 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_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 159 0 0 74 18 19.5652 NAIP 0 genome.wustl.edu 37 5 70308328 70308328 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 70308328 70308328 C T SNP NAIP ENST00000194097 human ensembl 74_37 -1 known missense c.415 p.D139N 0.935 NULL pfam_BIR,superfamily_P-loop_NTPase,smart_BIR,smart_AAA+_ATPase,pfscan_NACHT_NTPase,pfscan_BIR - no_errors NAIP HGNC ENSG00000249437 104 0 0 50 14 21.875 ENC1 0 genome.wustl.edu 37 5 73931957 73931957 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 73931957 73931957 T C SNP ENC1 ENST00000302351 human ensembl 74_37 -1 known silent c.354 p.E118 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 94 0 0 36 12 25 SV2C 0 genome.wustl.edu 37 5 75505643 75505643 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 75505643 75505643 C T SNP SV2C ENST00000502798 human ensembl 74_37 +1 known missense c.844 p.L282F 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2C HGNC ENSG00000122012 40 0 0 32 6 15.7895 DMGDH 0 genome.wustl.edu 37 5 78328598 78328598 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 78328598 78328598 T C SNP DMGDH ENST00000255189 human ensembl 74_37 -1 known missense c.1429 p.R477G 0.001 NULL pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_SoxG - no_errors DMGDH HGNC ENSG00000132837 179 0 0 106 37 25.8741 MTRR 0 genome.wustl.edu 37 5 7875484 7875484 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 7875484 7875484 G A SNP MTRR ENST00000264668 human ensembl 74_37 +1 known missense c.478 p.V160I 0.988 pfam_Flavodoxin/NO_synth,pfscan_Flavodoxin/NO_synth pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors MTRR HGNC ENSG00000124275 161 0 0 67 33 33 ZCCHC9 0 genome.wustl.edu 37 5 80608564 80608564 + RNA SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 80608564 80608564 C T SNP ZCCHC9 ENST00000506458 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZCCHC9 HGNC ENSG00000131732 36 0 0 11 3 21.4286 SEMA5A 0 genome.wustl.edu 37 5 9202323 9202323 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 9202323 9202323 C T SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known missense c.676 p.G226R 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 53 0 0 29 12 29.2683 RHOBTB3 0 genome.wustl.edu 37 5 95099279 95099279 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 95099279 95099279 A G SNP RHOBTB3 ENST00000379982 human ensembl 74_37 +1 known silent c.1116 p.S372 0.909 smart_BTB/POZ-like 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 86 0 0 38 14 26.9231 SIM1 0 genome.wustl.edu 37 6 100896434 100896434 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 100896434 100896434 C T SNP SIM1 ENST00000262901 human ensembl 74_37 -1 known missense c.664 p.V222I 1.000 smart_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 26 0 0 30 8 21.0526 BEND3 0 genome.wustl.edu 37 6 107391922 107391922 + Missense_Mutation SNP T T G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 107391922 107391922 T G SNP BEND3 ENST00000369042 human ensembl 74_37 -1 known missense c.473 p.K158T 0.993 NULL pfam_BEN_domain - no_errors BEND3 HGNC ENSG00000178409 61 0 0 74 20 21.2766 GCM2 0 genome.wustl.edu 37 6 10874821 10874821 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 10874821 10874821 G A SNP GCM2 ENST00000379491 human ensembl 74_37 -1 known silent c.928 p.L310 0.000 NULL pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM2 HGNC ENSG00000124827 168 0 0 116 30 20.5479 FOXO3 0 genome.wustl.edu 37 6 108984784 108984784 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 108984784 108984784 C T SNP FOXO3 ENST00000343882 human ensembl 74_37 +1 known missense c.748 p.R250W 0.998 pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO3 HGNC ENSG00000118689 16 0 0 7 5 41.6667 RPF2 0 genome.wustl.edu 37 6 111320954 111320954 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 111320954 111320954 A G SNP RPF2 ENST00000441448 human ensembl 74_37 +1 known silent c.357 p.L119 1.000 pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix - no_errors RPF2 HGNC ENSG00000197498 61 0 0 45 15 25 REV3L 0 genome.wustl.edu 37 6 111654524 111654524 + Missense_Mutation SNP T T A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 111654524 111654524 T A SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.7727 p.Y2576F 1.000 pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 61 0 0 31 15 32.6087 REV3L 0 genome.wustl.edu 37 6 111695100 111695100 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 111695100 111695100 A G SNP REV3L ENST00000358835 human ensembl 74_37 -1 known silent c.4458 p.F1486 1.000 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 - no_errors REV3L HGNC ENSG00000009413 130 0 0 93 5 5.10204 TRAF3IP2 0 genome.wustl.edu 37 6 111912543 111912543 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 111912543 111912543 C T SNP TRAF3IP2 ENST00000340026 human ensembl 74_37 -1 known silent c.774 p.Q258 0.994 NULL pfam_SEFIR - no_errors TRAF3IP2 HGNC ENSG00000056972 39 0 0 32 10 23.8095 KPNA5 0 genome.wustl.edu 37 6 117037453 117037453 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 117037453 117037453 G A SNP KPNA5 ENST00000356348 human ensembl 74_37 +1 known missense c.728 p.G243D 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 68 0 0 40 8 16.6667 ROS1 0 genome.wustl.edu 37 6 117650526 117650526 + Nonsense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 117650526 117650526 C A SNP ROS1 ENST00000368508 human ensembl 74_37 -1 known nonsense c.5332 p.G1778* 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 89 0 0 64 11 14.6667 ADTRP 0 genome.wustl.edu 37 6 11778881 11778881 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 11778881 11778881 C T SNP ADTRP ENST00000379413 human ensembl 74_37 -1 known missense c.112 p.A38T 0.000 pfam_Far-17a_AIG1 pfam_Far-17a_AIG1 - no_errors ADTRP HGNC ENSG00000111863 151 0 0 90 24 21.0526 DCBLD1 0 genome.wustl.edu 37 6 117864339 117864339 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 117864339 117864339 G A SNP DCBLD1 ENST00000338728 human ensembl 74_37 +1 known silent c.1410 p.V470 0.000 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_LCCL,pfam_CUB_dom,superfamily_Galactose-bd-like,superfamily_LCCL,superfamily_CUB_dom,smart_CUB_dom,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL - no_errors DCBLD1 HGNC ENSG00000164465 126 0 0 90 27 23.0769 FAM184A 0 genome.wustl.edu 37 6 119281303 119281303 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 119281303 119281303 G A SNP FAM184A ENST00000338891 human ensembl 74_37 -1 known missense c.3388 p.R1130C 1.000 NULL superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 40 0 0 21 5 19.2308 HIVEP1 0 genome.wustl.edu 37 6 12124535 12124535 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 12124535 12124535 G A SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known missense c.4507 p.V1503I 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 70 0 0 46 22 32.3529 EDN1 0 genome.wustl.edu 37 6 12296244 12296244 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 12296244 12296244 C T SNP EDN1 ENST00000379375 human ensembl 74_37 +1 known silent c.583 p.L195 0.998 NULL pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D - no_errors EDN1 HGNC ENSG00000078401 179 0 0 126 31 19.7452 CLVS2 0 genome.wustl.edu 37 6 123318992 123318992 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 123318992 123318992 C A SNP CLVS2 ENST00000275162 human ensembl 74_37 +1 known missense c.70 p.P24T 1.000 superfamily_CRAL/TRIO_N_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors CLVS2 HGNC ENSG00000146352 81 0 0 42 13 23.6364 PTPRK 0 genome.wustl.edu 37 6 128388769 128388769 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 128388769 128388769 C T SNP PTPRK ENST00000368227 human ensembl 74_37 -1 known silent c.2052 p.P684 0.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 75 0 0 46 13 22.0339 PTPRK 0 genome.wustl.edu 37 6 128561240 128561240 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 128561240 128561240 G A SNP PTPRK ENST00000368227 human ensembl 74_37 -1 known silent c.633 p.N211 0.998 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 68 0 0 44 13 22.807 LAMA2 0 genome.wustl.edu 37 6 129775324 129775324 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 129775324 129775324 C T SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known missense c.6598 p.R2200C 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G 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 67 0 0 48 13 21.3115 EPB41L2 0 genome.wustl.edu 37 6 131191139 131191139 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 131191139 131191139 C T SNP EPB41L2 ENST00000337057 human ensembl 74_37 -1 known missense c.2171 p.R724H 0.048 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain - no_errors EPB41L2 HGNC ENSG00000079819 65 0 0 26 23 46.9388 CTGF 0 genome.wustl.edu 37 6 132270619 132270619 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 132270619 132270619 A G SNP CTGF ENST00000367976 human ensembl 74_37 -1 known missense c.835 p.Y279H 0.999 pfam_Cys_knot,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C pfam_Cys_knot,pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors CTGF HGNC ENSG00000118523 276 0 0 248 52 17.3333 MAP3K5 0 genome.wustl.edu 37 6 137018441 137018441 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 137018441 137018441 T C SNP MAP3K5 ENST00000359015 human ensembl 74_37 -1 known silent c.891 p.A297 0.997 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 68 0 0 41 22 34.9206 HIVEP2 0 genome.wustl.edu 37 6 143093783 143093783 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 143093783 143093783 C T SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known missense c.2093 p.R698Q 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 156 0 0 85 28 24.7788 UTRN 0 genome.wustl.edu 37 6 144724272 144724272 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 144724272 144724272 C T SNP UTRN ENST00000367545 human ensembl 74_37 +1 known silent c.93 p.D31 0.290 superfamily_CH-domain,pirsf_Dystrophin/utrophin,pfscan_CH-domain 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 25 0 0 24 5 17.2414 UST 0 genome.wustl.edu 37 6 149342520 149342520 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 149342520 149342520 C T SNP UST ENST00000367463 human ensembl 74_37 +1 known silent c.840 p.L280 0.985 pfam_Sulfotransferase,pfam_Gal-3-0_sulfotransfrase pfam_Sulfotransferase,pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors UST HGNC ENSG00000111962 38 0 0 36 8 18.1818 RAET1E 0 genome.wustl.edu 37 6 150210620 150210620 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 150210620 150210620 A G SNP RAET1E ENST00000357183 human ensembl 74_37 -1 known silent c.486 p.H162 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 RAET1E HGNC ENSG00000164520 109 0 0 82 24 22.6415 ESR1 0 genome.wustl.edu 37 6 152129084 152129084 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 152129084 152129084 G A SNP ESR1 ENST00000206249 human ensembl 74_37 +1 known missense c.37 p.A13T 0.991 prints_Oestr_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 30 0 0 26 4 13.3333 ESR1 0 genome.wustl.edu 37 6 152382191 152382191 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 152382191 152382191 G A SNP ESR1 ENST00000206249 human ensembl 74_37 +1 known missense c.1301 p.R434Q 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core 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 35 0 0 26 3 10.3448 SYNE1 0 genome.wustl.edu 37 6 152711422 152711422 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 152711422 152711422 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.8170 p.A2724T 0.995 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 45 0 0 39 14 26.4151 IPCEF1 0 genome.wustl.edu 37 6 154489165 154489165 + Nonsense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 154489165 154489165 G A SNP IPCEF1 ENST00000367220 human ensembl 74_37 -1 known nonsense c.994 p.R332* 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors IPCEF1 HGNC ENSG00000074706 280 0 0 172 34 16.5049 JARID2 0 genome.wustl.edu 37 6 15501269 15501269 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 15501269 15501269 C T SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known missense c.2077 p.R693W 1.000 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 48 0 0 38 8 17.3913 JARID2 0 genome.wustl.edu 37 6 15507634 15507634 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 15507634 15507634 C T SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known silent c.2718 p.L906 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 59 0 0 46 9 16.3636 JARID2 0 genome.wustl.edu 37 6 15520429 15520429 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 15520429 15520429 C T SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known missense c.3688 p.P1230S 0.997 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 63 0 0 51 10 16.3934 NOX3 0 genome.wustl.edu 37 6 155761270 155761270 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 155761270 155761270 T C SNP NOX3 ENST00000159060 human ensembl 74_37 -1 known missense c.488 p.N163S 0.659 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 44 0 0 28 5 15.1515 TULP4 0 genome.wustl.edu 37 6 158923878 158923878 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 158923878 158923878 G A SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known silent c.3183 p.P1061 0.033 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 25 0 0 22 5 18.5185 PARK2 0 genome.wustl.edu 37 6 162683713 162683713 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 162683713 162683713 C T SNP PARK2 ENST00000366898 human ensembl 74_37 -1 known missense c.256 p.D86N 0.000 pirsf_Parkin pfam_Ubiquitin_dom,pfam_Znf_C6HC,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin - no_errors PARK2 HGNC ENSG00000185345 64 0 0 26 8 23.5294 T 0 genome.wustl.edu 37 6 166580961 166580961 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 166580961 166580961 C T SNP T ENST00000296946 human ensembl 74_37 -1 known missense c.119 p.R40H 1.000 prints_TF_Brachyury pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_Brachyury,prints_TF_T-box,pfscan_TF_T-box - no_errors T HGNC ENSG00000164458 25 0 0 16 7 30.4348 TTLL2 0 genome.wustl.edu 37 6 167754476 167754476 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 167754476 167754476 C T SNP TTLL2 ENST00000239587 human ensembl 74_37 +1 known missense c.1088 p.A363V 0.001 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL2 HGNC ENSG00000120440 209 0 0 128 35 21.4724 MLLT4 0 genome.wustl.edu 37 6 168319469 168319469 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 168319469 168319469 C T SNP MLLT4 ENST00000366806 human ensembl 74_37 +1 known missense c.2743 p.R915C 0.996 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 36 0 0 23 5 17.8571 THBS2 0 genome.wustl.edu 37 6 169648977 169648977 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 169648977 169648977 G A SNP THBS2 ENST00000366787 human ensembl 74_37 -1 known silent c.144 p.P48 0.004 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 49 0 0 36 9 20 NUP153 0 genome.wustl.edu 37 6 17629339 17629339 + Missense_Mutation SNP A A C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 17629339 17629339 A C SNP NUP153 ENST00000537253 human ensembl 74_37 -1 known missense c.3184 p.S1062A 0.000 NULL pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 73 0 0 39 12 23.5294 LRRC16A 0 genome.wustl.edu 37 6 25472729 25472729 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 25472729 25472729 G A SNP LRRC16A ENST00000377969 human ensembl 74_37 +1 known missense c.371 p.G124D 1.000 NULL NULL - no_errors LRRC16A HGNC ENSG00000079691 14 0 0 15 2 11.7647 HIST1H4F 0 genome.wustl.edu 37 6 26240942 26240942 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 26240942 26240942 A G SNP HIST1H4F ENST00000377745 human ensembl 74_37 +1 known missense c.289 p.T97A 1.000 superfamily_Histone-fold,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4F HGNC ENSG00000198327 74 0 0 44 14 24.1379 BTN2A2 0 genome.wustl.edu 37 6 26384103 26384103 + Silent SNP C C G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 26384103 26384103 C G SNP BTN2A2 ENST00000356709 human ensembl 74_37 +1 known silent c.54 p.L18 0.015 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 94 0 0 54 11 16.9231 BTN2A3P 0 genome.wustl.edu 37 6 26423300 26423300 + RNA SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 26423300 26423300 A G SNP BTN2A3P ENST00000465856 human ensembl 74_37 +1 known rna NULL NULL 0.023 - - - no_errors BTN2A3P HGNC ENSG00000124549 93 0 0 43 9 17.3077 BTN2A3P 0 genome.wustl.edu 37 6 26423392 26423392 + RNA SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 26423392 26423392 G A SNP BTN2A3P ENST00000465856 human ensembl 74_37 +1 known rna NULL NULL 0.563 - - - no_errors BTN2A3P HGNC ENSG00000124549 85 0 0 54 12 18.1818 BTN2A3P 0 genome.wustl.edu 37 6 26423427 26423427 + RNA SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 26423427 26423427 G A SNP BTN2A3P ENST00000465856 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors BTN2A3P HGNC ENSG00000124549 74 0 0 45 15 25 BTN3A3 0 genome.wustl.edu 37 6 26452045 26452045 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 26452045 26452045 T C SNP BTN3A3 ENST00000244519 human ensembl 74_37 +1 known silent c.1161 p.C387 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 38 0 0 50 13 20.6349 SERPINB6 0 genome.wustl.edu 37 6 2948549 2948549 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 2948549 2948549 G A SNP SERPINB6 ENST00000335686 human ensembl 74_37 -1 known missense c.1114 p.R372C 0.998 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB6 HGNC ENSG00000124570 36 0 0 31 4 11.4286 HLA-G 0 genome.wustl.edu 37 6 29797196 29797196 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 29797196 29797196 C T SNP HLA-G ENST00000376828 human ensembl 74_37 +1 known silent c.636 p.D212 0.004 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 HLA-G HGNC ENSG00000204632 116 0 0 92 25 21.3675 TRIM26 0 genome.wustl.edu 37 6 30154088 30154088 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 30154088 30154088 C T SNP TRIM26 ENST00000437089 human ensembl 74_37 -1 known silent c.1185 p.E395 0.504 superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM26 HGNC ENSG00000234127 38 0 0 19 7 26.9231 PPP1R10 0 genome.wustl.edu 37 6 30574361 30574361 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 30574361 30574361 C T SNP PPP1R10 ENST00000376511 human ensembl 74_37 -1 known missense c.518 p.R173Q 0.994 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 78 0 0 65 19 22.619 DHX16 0 genome.wustl.edu 37 6 30632714 30632714 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 30632714 30632714 G A SNP DHX16 ENST00000376442 human ensembl 74_37 -1 known missense c.1181 p.A394V 0.924 superfamily_P-loop_NTPase 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 26 0 0 25 12 32.4324 MDC1 0 genome.wustl.edu 37 6 30672220 30672220 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 30672220 30672220 A G SNP MDC1 ENST00000376406 human ensembl 74_37 -1 known silent c.4740 p.P1580 0.020 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 166 0 0 146 34 18.8889 SKIV2L 0 genome.wustl.edu 37 6 31931826 31931826 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 31931826 31931826 C T SNP SKIV2L ENST00000375394 human ensembl 74_37 +1 known missense c.1784 p.S595L 0.562 superfamily_P-loop_NTPase,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_C pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L HGNC ENSG00000204351 54 0 0 36 31 46.2687 SYNGAP1 0 genome.wustl.edu 37 6 33411085 33411085 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 33411085 33411085 A G SNP SYNGAP1 ENST00000418600 human ensembl 74_37 +1 known missense c.2756 p.Q919R 1.000 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC ENSG00000197283 148 0 0 125 29 18.8312 ZBTB9 0 genome.wustl.edu 37 6 33423698 33423698 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 33423698 33423698 C T SNP ZBTB9 ENST00000395064 human ensembl 74_37 +1 known missense c.821 p.A274V 0.424 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 ZBTB9 HGNC ENSG00000213588 79 0 0 46 15 24.5902 GRM4 0 genome.wustl.edu 37 6 34008491 34008491 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 34008491 34008491 C T SNP GRM4 ENST00000374181 human ensembl 74_37 -1 known silent c.1203 p.E401 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt 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_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B - no_errors GRM4 HGNC ENSG00000124493 46 0 0 51 11 17.7419 GRM4 0 genome.wustl.edu 37 6 34059806 34059806 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 34059806 34059806 C T SNP GRM4 ENST00000374181 human ensembl 74_37 -1 known missense c.590 p.R197H 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_GABA_rcpt_B 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_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B - no_errors GRM4 HGNC ENSG00000124493 32 0 0 33 7 17.5 ANKS1A 0 genome.wustl.edu 37 6 34937854 34937854 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 34937854 34937854 C A SNP ANKS1A ENST00000360359 human ensembl 74_37 +1 known missense c.346 p.P116T 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 82 0 0 82 18 18 ZNF76 0 genome.wustl.edu 37 6 35260699 35260699 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 35260699 35260699 C T SNP ZNF76 ENST00000373953 human ensembl 74_37 +1 known missense c.1207 p.R403W 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF76 HGNC ENSG00000065029 80 0 0 69 23 25 TULP1 0 genome.wustl.edu 37 6 35478786 35478786 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 35478786 35478786 C A SNP TULP1 ENST00000229771 human ensembl 74_37 -1 known missense c.351 p.E117D 0.622 NULL pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C - no_errors TULP1 HGNC ENSG00000112041 64 0 0 60 18 23.0769 PI16 0 genome.wustl.edu 37 6 36930862 36930862 + Silent SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 36930862 36930862 C A SNP PI16 ENST00000373674 human ensembl 74_37 +1 known silent c.744 p.V248 0.172 NULL pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors PI16 HGNC ENSG00000164530 89 0 0 58 22 27.5 CMTR1 0 genome.wustl.edu 37 6 37430630 37430630 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 37430630 37430630 G A SNP CMTR1 ENST00000373451 human ensembl 74_37 +1 known missense c.1351 p.V451M 0.995 NULL 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 86 0 0 66 6 8.33333 BTBD9 0 genome.wustl.edu 37 6 38560444 38560444 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 38560444 38560444 G A SNP BTBD9 ENST00000403056 human ensembl 74_37 -1 known missense c.722 p.P241L 1.000 NULL pfam_BTB_POZ,pfam_BACK,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_BTB/POZ_fold,superfamily_Galactose-bd-like,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD9 HGNC ENSG00000183826 75 0 0 31 11 26.1905 DNAH8 0 genome.wustl.edu 37 6 38863896 38863896 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 38863896 38863896 T C SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known silent c.8184 p.C2728 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 DNAH8 HGNC ENSG00000124721 85 0 0 55 15 21.4286 DNAH8 0 genome.wustl.edu 37 6 38905788 38905788 + Nonsense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 38905788 38905788 C T SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known nonsense c.10951 p.R3651* 0.018 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 83 0 0 54 7 11.4754 LRFN2 0 genome.wustl.edu 37 6 40399588 40399588 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 40399588 40399588 G A SNP LRFN2 ENST00000338305 human ensembl 74_37 -1 known missense c.1265 p.P422L 0.995 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 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 19 20 51.2821 CNPY3 0 genome.wustl.edu 37 6 42903362 42903362 + Missense_Mutation SNP A A C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 42903362 42903362 A C SNP CNPY3 ENST00000372836 human ensembl 74_37 +1 known missense c.326 p.D109A 1.000 pfam_DUF3456 pfam_DUF3456 - no_errors CNPY3 HGNC ENSG00000137161 66 0 0 29 11 27.5 PEX6 0 genome.wustl.edu 37 6 42936059 42936059 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 42936059 42936059 G A SNP PEX6 ENST00000304611 human ensembl 74_37 -1 known missense c.1657 p.H553Y 0.652 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors PEX6 HGNC ENSG00000124587 29 0 0 16 17 51.5152 MRPL2 0 genome.wustl.edu 37 6 43023827 43023827 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 43023827 43023827 C T SNP MRPL2 ENST00000388752 human ensembl 74_37 -1 known missense c.512 p.R171Q 0.989 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 55 0 0 32 12 27.2727 TMEM63B 0 genome.wustl.edu 37 6 44120388 44120388 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 44120388 44120388 C T SNP TMEM63B ENST00000259746 human ensembl 74_37 +1 known missense c.1895 p.T632M 1.000 pfam_DUF221 pfam_DUF221 - no_errors TMEM63B HGNC ENSG00000137216 63 0 0 68 15 18.0723 TDRD6 0 genome.wustl.edu 37 6 46659717 46659717 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 46659717 46659717 A G SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known silent c.3852 p.S1284 0.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 57 0 0 37 16 30.1887 TDRD6 0 genome.wustl.edu 37 6 46661387 46661387 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 46661387 46661387 C T SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known missense c.5522 p.P1841L 0.009 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 97 0 0 76 34 30.9091 MEP1A 0 genome.wustl.edu 37 6 46803149 46803149 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 46803149 46803149 C T SNP MEP1A ENST00000230588 human ensembl 74_37 +1 known silent c.1947 p.S649 0.031 pirsf_Pept_M12A_Meprin pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1A HGNC ENSG00000112818 15 0 0 13 4 23.5294 CD2AP 0 genome.wustl.edu 37 6 47471097 47471097 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 47471097 47471097 T C SNP CD2AP ENST00000359314 human ensembl 74_37 +1 known missense c.86 p.V29A 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors CD2AP HGNC ENSG00000198087 68 0 0 37 14 27.451 OPN5 0 genome.wustl.edu 37 6 47759639 47759639 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 47759639 47759639 T C SNP OPN5 ENST00000371211 human ensembl 74_37 +1 known missense c.352 p.C118R 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Peropsin pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Peropsin - no_errors OPN5 HGNC ENSG00000124818 35 0 0 27 9 25 PGK2 0 genome.wustl.edu 37 6 49754751 49754751 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 49754751 49754751 G A SNP PGK2 ENST00000304801 human ensembl 74_37 -1 known silent c.150 p.C50 1.000 pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase - no_errors PGK2 HGNC ENSG00000170950 118 0 0 84 22 20.7547 PKHD1 0 genome.wustl.edu 37 6 51882291 51882291 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 51882291 51882291 A G SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known silent c.5517 p.I1839 0.013 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 178 0 0 122 36 22.7848 LRRC1 0 genome.wustl.edu 37 6 53706924 53706924 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 53706924 53706924 T C SNP LRRC1 ENST00000370888 human ensembl 74_37 +1 known missense c.176 p.V59A 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC1 HGNC ENSG00000137269 50 0 0 46 10 17.8571 TINAG 0 genome.wustl.edu 37 6 54212213 54212213 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 54212213 54212213 C T SNP TINAG ENST00000259782 human ensembl 74_37 +1 known missense c.797 p.A266V 0.998 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom - no_errors TINAG HGNC ENSG00000137251 59 0 0 33 7 17.5 PRIM2 0 genome.wustl.edu 37 6 57398247 57398247 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 57398247 57398247 G T SNP PRIM2 ENST00000607273 human ensembl 74_37 +1 known missense c.950 p.G317V 1.000 pfam_DNA_primase_lsu_euk/arc pfam_DNA_primase_lsu_euk/arc - no_errors PRIM2 HGNC ENSG00000146143 203 1 0.490196 139 11 7.33333 LMBRD1 0 genome.wustl.edu 37 6 70423622 70423622 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 70423622 70423622 C T SNP LMBRD1 ENST00000370577 human ensembl 74_37 -1 known missense c.830 p.R277Q 1.000 NULL pfam_LMBR1-like_membr_prot - no_errors LMBRD1 HGNC ENSG00000168216 64 0 0 48 5 9.43396 RIMS1 0 genome.wustl.edu 37 6 72889303 72889303 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 72889303 72889303 G A SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.497 p.R166Q 1.000 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel 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 46 0 0 35 8 18.6047 KCNQ5 0 genome.wustl.edu 37 6 73902309 73902309 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 73902309 73902309 A G SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known silent c.1761 p.K587 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 114 1 0.869565 89 13 12.7451 KCNQ5 0 genome.wustl.edu 37 6 73904255 73904255 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 73904255 73904255 C T SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known silent c.1947 p.L649 0.996 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 76 0 0 42 19 31.1475 MB21D1 0 genome.wustl.edu 37 6 74150030 74150030 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 74150030 74150030 C T SNP MB21D1 ENST00000370315 human ensembl 74_37 -1 known missense c.1016 p.R339H 0.006 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MB21D1 HGNC ENSG00000164430 77 0 0 50 12 19.3548 SLC35A1 0 genome.wustl.edu 37 6 88187198 88187198 + Silent SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 88187198 88187198 C A SNP SLC35A1 ENST00000369552 human ensembl 74_37 +1 known silent c.135 p.T45 0.956 pirsf_UDP/CMP-sugar_transptr pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A1 HGNC ENSG00000164414 84 0 0 60 10 14.2857 MDN1 0 genome.wustl.edu 37 6 90354754 90354754 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 90354754 90354754 A G SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known silent c.16582 p.L5528 0.980 smart_VWF_A,pirsf_Midasin,pfscan_VWF_A 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 73 0 0 51 11 17.7419 MDN1 0 genome.wustl.edu 37 6 90513053 90513053 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 90513053 90513053 A G SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.323 p.V108A 0.998 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 127 0 0 106 13 10.9244 FBXL4 0 genome.wustl.edu 37 6 99374804 99374804 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 99374804 99374804 G A SNP FBXL4 ENST00000229971 human ensembl 74_37 -1 known missense c.61 p.R21C 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL4 HGNC ENSG00000112234 108 0 0 81 21 20.5882 FAXC 0 genome.wustl.edu 37 6 99739692 99739692 + Missense_Mutation SNP A A T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 99739692 99739692 A T SNP FAXC ENST00000389677 human ensembl 74_37 -1 known missense c.828 p.D276E 1.000 superfamily_Glutathione-S-Trfase_C-like superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like - no_errors FAXC HGNC ENSG00000146267 112 0 0 69 19 21.5909 LRCH4 0 genome.wustl.edu 37 7 100175014 100175014 + Splice_Site SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 100175014 100175014 T C SNP LRCH4 ENST00000310300 human ensembl 74_37 -1 known splice_site c.1179-2 e11-2 0.935 - - - no_errors LRCH4 HGNC ENSG00000077454 15 0 0 13 4 23.5294 KMT2E 0 genome.wustl.edu 37 7 104742433 104742433 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 104742433 104742433 A G SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known missense c.1988 p.Q663R 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 109 1 0.909091 91 26 22.2222 KMT2E 0 genome.wustl.edu 37 7 104748331 104748331 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 104748331 104748331 G A SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known missense c.3427 p.D1143N 0.999 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 62 0 0 43 7 14 PHF14 0 genome.wustl.edu 37 7 11022051 11022051 + Missense_Mutation SNP A A C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 11022051 11022051 A C SNP PHF14 ENST00000403050 human ensembl 74_37 +1 known missense c.165 p.E55D 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF14 HGNC ENSG00000106443 45 0 0 30 5 14.2857 TMEM168 0 genome.wustl.edu 37 7 112407372 112407372 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 112407372 112407372 G A SNP TMEM168 ENST00000312814 human ensembl 74_37 -1 known silent c.1974 p.C658 1.000 NULL superfamily_ConA-like_lec_gl_sf - no_errors TMEM168 HGNC ENSG00000146802 83 0 0 38 7 15.5556 FOXP2 0 genome.wustl.edu 37 7 114299690 114299690 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 114299690 114299690 A G SNP FOXP2 ENST00000408937 human ensembl 74_37 +1 known missense c.1684 p.T562A 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 FOXP2 HGNC ENSG00000128573 79 0 0 49 12 19.6721 CPED1 0 genome.wustl.edu 37 7 120629564 120629564 + RNA SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 120629564 120629564 T C SNP CPED1 ENST00000495036 human ensembl 74_37 +1 known rna NULL NULL 0.981 - - - no_errors CPED1 HGNC ENSG00000106034 30 0 0 12 5 29.4118 RNF148 0 genome.wustl.edu 37 7 122341990 122341990 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 122341990 122341990 C T SNP RNF148 ENST00000434824 human ensembl 74_37 -1 known missense c.815 p.R272H 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF148 HGNC ENSG00000235631 61 0 0 62 14 18.4211 SCIN 0 genome.wustl.edu 37 7 12683795 12683795 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 12683795 12683795 C T SNP SCIN ENST00000297029 human ensembl 74_37 +1 known silent c.1614 p.N538 0.975 pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors SCIN HGNC ENSG00000006747 16 0 0 15 4 21.0526 LRRC4 0 genome.wustl.edu 37 7 127669218 127669218 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 127669218 127669218 C T SNP LRRC4 ENST00000249363 human ensembl 74_37 -1 known silent c.1476 p.T492 0.999 NULL 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 92 0 0 70 20 22.2222 IMPDH1 0 genome.wustl.edu 37 7 128038480 128038480 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 128038480 128038480 G A SNP IMPDH1 ENST00000338791 human ensembl 74_37 -1 known silent c.1062 p.D354 0.096 pfam_IMP_DH_GMPRt,tigrfam_IMP_DH pfam_IMP_DH_GMPRt,pfam_CBS_dom,pfam_2Npropane_dOase,pfam_FMN-dep_DH,smart_CBS_dom,tigrfam_IMP_DH - no_errors IMPDH1 HGNC ENSG00000106348 36 0 0 22 7 24.1379 CPA4 0 genome.wustl.edu 37 7 129950820 129950820 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 129950820 129950820 G T SNP CPA4 ENST00000222482 human ensembl 74_37 +1 known missense c.987 p.E329D 0.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA4 HGNC ENSG00000128510 99 0 0 63 13 17.1053 TTC26 0 genome.wustl.edu 37 7 138832998 138832998 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 138832998 138832998 T C SNP TTC26 ENST00000464848 human ensembl 74_37 +1 known silent c.592 p.L198 0.949 pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC26 HGNC ENSG00000105948 124 0 0 89 21 19.0909 SLC37A3 0 genome.wustl.edu 37 7 140051864 140051864 + Missense_Mutation SNP A A T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 140051864 140051864 A T SNP SLC37A3 ENST00000326232 human ensembl 74_37 -1 known missense c.701 p.I234N 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 SLC37A3 HGNC ENSG00000157800 27 0 0 14 10 41.6667 CASP2 0 genome.wustl.edu 37 7 142997069 142997069 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 142997069 142997069 G A SNP CASP2 ENST00000310447 human ensembl 74_37 +1 known silent c.801 p.T267 0.000 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20 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 CASP2 HGNC ENSG00000106144 62 0 0 44 14 24.1379 FAM115A 0 genome.wustl.edu 37 7 143573696 143573696 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 143573696 143573696 C T SNP FAM115A ENST00000479870 human ensembl 74_37 -1 known silent c.6 p.A2 0.766 NULL NULL - no_errors FAM115A HGNC ENSG00000198420 60 0 0 39 16 29.0909 OR2A14 0 genome.wustl.edu 37 7 143827119 143827119 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 143827119 143827119 G T SNP OR2A14 ENST00000408899 human ensembl 74_37 +1 known missense c.914 p.R305M 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A14 HGNC ENSG00000221938 118 0 0 82 27 24.7706 MICALL2 0 genome.wustl.edu 37 7 1478512 1478512 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 1478512 1478512 C T SNP MICALL2 ENST00000297508 human ensembl 74_37 -1 known missense c.2086 p.E696K 0.476 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL2 HGNC ENSG00000164877 47 0 0 38 13 25.4902 CUL1 0 genome.wustl.edu 37 7 148496368 148496368 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 148496368 148496368 C T SNP CUL1 ENST00000325222 human ensembl 74_37 +1 known missense c.2138 p.A713V 1.000 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 65 0 0 53 15 22.0588 ZNF425 0 genome.wustl.edu 37 7 148801590 148801590 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 148801590 148801590 C T SNP ZNF425 ENST00000378061 human ensembl 74_37 -1 known missense c.1373 p.R458H 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,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ENSG00000204947 32 0 0 25 10 28.5714 ZNF777 0 genome.wustl.edu 37 7 149129573 149129573 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 149129573 149129573 C T SNP ZNF777 ENST00000247930 human ensembl 74_37 -1 known missense c.1790 p.R597H 0.934 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF777 HGNC ENSG00000196453 34 0 0 29 13 30.9524 SSPO 0 genome.wustl.edu 37 7 149505383 149505383 + RNA SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 149505383 149505383 C T SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.845 - - - no_errors SSPO HGNC ENSG00000197558 72 0 0 61 12 16.4384 KCNH2 0 genome.wustl.edu 37 7 150656686 150656686 + Missense_Mutation SNP C C G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 150656686 150656686 C G SNP KCNH2 ENST00000262186 human ensembl 74_37 -1 known missense c.446 p.G149A 0.016 NULL 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 26 0 0 16 6 27.2727 GALNT11 0 genome.wustl.edu 37 7 151802408 151802408 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 151802408 151802408 G A SNP GALNT11 ENST00000320311 human ensembl 74_37 +1 known missense c.665 p.R222H 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 GALNT11 HGNC ENSG00000178234 78 0 0 60 4 6.25 KMT2C 0 genome.wustl.edu 37 7 151878749 151878749 + Nonsense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 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 61 0 0 49 13 20.9677 PAXIP1 0 genome.wustl.edu 37 7 154739611 154739611 + Splice_Site SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 154739611 154739611 A G SNP PAXIP1 ENST00000397192 human ensembl 74_37 -1 known splice_site c.2922+2 e17+2 1.000 - - - no_errors PAXIP1 HGNC ENSG00000157212 149 0 0 110 26 19.1176 SHH 0 genome.wustl.edu 37 7 155599049 155599049 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 155599049 155599049 G A SNP SHH ENST00000297261 human ensembl 74_37 -1 known missense c.503 p.A168V 1.000 pirsf_Hedgehog,pfam_Hedgehog_signaling_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,prints_Hedgehog 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 SHH HGNC ENSG00000164690 40 0 0 35 5 12.5 HDAC9 0 genome.wustl.edu 37 7 18875107 18875107 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 18875107 18875107 C T SNP HDAC9 ENST00000441542 human ensembl 74_37 +1 known silent c.2484 p.N828 1.000 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC9 HGNC ENSG00000048052 55 0 0 25 13 34.2105 CDCA7L 0 genome.wustl.edu 37 7 21942601 21942601 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 21942601 21942601 C T SNP CDCA7L ENST00000406877 human ensembl 74_37 -1 known silent c.1329 p.L443 1.000 pfam_Znf-4CXXC_R1 pfam_Znf-4CXXC_R1 - no_errors CDCA7L HGNC ENSG00000164649 78 0 0 73 4 5.19481 RAPGEF5 0 genome.wustl.edu 37 7 22206738 22206738 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 22206738 22206738 C T SNP RAPGEF5 ENST00000344041 human ensembl 74_37 -1 known silent c.774 p.T258 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-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 52 0 0 29 10 25.641 HOXA2 0 genome.wustl.edu 37 7 27140675 27140675 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 27140675 27140675 G A SNP HOXA2 ENST00000222718 human ensembl 74_37 -1 known silent c.801 p.G267 0.991 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA2 HGNC ENSG00000105996 65 0 0 41 10 19.6078 HOXA5 0 genome.wustl.edu 37 7 27181672 27181672 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 27181672 27181672 G A SNP HOXA5 ENST00000222726 human ensembl 74_37 -1 known missense c.595 p.R199W 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_antennapedia pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA5 HGNC ENSG00000106004 57 0 0 41 7 14.5833 WIPF3 0 genome.wustl.edu 37 7 29918676 29918676 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 29918676 29918676 C T SNP WIPF3 ENST00000242140 human ensembl 74_37 +1 known missense c.275 p.A92V 0.174 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF3 HGNC ENSG00000122574 31 0 0 15 6 28.5714 CCDC129 0 genome.wustl.edu 37 7 31692254 31692254 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 31692254 31692254 G T SNP CCDC129 ENST00000451887 human ensembl 74_37 +1 known missense c.3024 p.R1008S 0.000 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 51 0 0 30 6 16.6667 CCDC129 0 genome.wustl.edu 37 7 31692285 31692285 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 31692285 31692285 G A SNP CCDC129 ENST00000451887 human ensembl 74_37 +1 known missense c.3055 p.A1019T 0.000 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 53 0 0 30 6 16.6667 HECW1 0 genome.wustl.edu 37 7 43477677 43477677 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 43477677 43477677 A G SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known missense c.877 p.I293V 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom 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 93 0 0 81 18 18.1818 URGCP 0 genome.wustl.edu 37 7 43918266 43918266 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 43918266 43918266 C T SNP URGCP ENST00000453200 human ensembl 74_37 -1 known missense c.796 p.V266M 0.994 NULL superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors URGCP HGNC ENSG00000106608 37 0 0 27 9 25 NACAD 0 genome.wustl.edu 37 7 45120589 45120589 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 45120589 45120589 G A SNP NACAD ENST00000490531 human ensembl 74_37 -1 known silent c.4437 p.A1479 0.936 NULL pfam_Nas_poly-pep-assoc_cplx_dom,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACAD HGNC ENSG00000136274 15 0 0 9 4 30.7692 ADCY1 0 genome.wustl.edu 37 7 45753312 45753312 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 45753312 45753312 G A SNP ADCY1 ENST00000297323 human ensembl 74_37 +1 known silent c.3078 p.R1026 0.994 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 64 0 0 44 9 16.9811 FOXK1 0 genome.wustl.edu 37 7 4794194 4794194 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 4794194 4794194 C T SNP FOXK1 ENST00000328914 human ensembl 74_37 +1 known missense c.851 p.A284V 0.984 NULL 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 35 0 0 23 2 8 TNRC18 0 genome.wustl.edu 37 7 5396806 5396806 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 5396806 5396806 G A SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known silent c.4935 p.P1645 1.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 18 0 0 12 7 36.8421 RNF216 0 genome.wustl.edu 37 7 5662498 5662498 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 5662498 5662498 C T SNP RNF216 ENST00000389902 human ensembl 74_37 -1 known missense c.2765 p.R922H 1.000 NULL smart_Znf_C6HC - no_errors RNF216 HGNC ENSG00000011275 104 0 0 77 13 14.4444 USP42 0 genome.wustl.edu 37 7 6155062 6155062 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 6155062 6155062 G A SNP USP42 ENST00000306177 human ensembl 74_37 +1 known missense c.350 p.G117D 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP42 HGNC ENSG00000106346 68 0 0 44 15 25.4237 ZNF107 0 genome.wustl.edu 37 7 64168629 64168629 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 64168629 64168629 A G SNP ZNF107 ENST00000344930 human ensembl 74_37 +1 known silent c.1947 p.S649 0.005 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF107 HGNC ENSG00000196247 52 0 0 47 10 17.5439 CALN1 0 genome.wustl.edu 37 7 71252835 71252835 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 71252835 71252835 G A SNP CALN1 ENST00000395275 human ensembl 74_37 -1 known silent c.711 p.C237 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALN1 HGNC ENSG00000183166 44 0 0 38 7 15.5556 PHTF2 0 genome.wustl.edu 37 7 77567104 77567104 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 77567104 77567104 T C SNP PHTF2 ENST00000248550 human ensembl 74_37 +1 known silent c.1416 p.C472 0.999 NULL pfam_TF_homeodomain_male - no_errors PHTF2 HGNC ENSG00000006576 26 0 0 22 5 18.5185 MAGI2 0 genome.wustl.edu 37 7 78636481 78636481 + Nonsense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 78636481 78636481 G A SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known nonsense c.343 p.R115* 1.000 smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like 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 73 0 0 39 10 20.4082 GNAT3 0 genome.wustl.edu 37 7 80108232 80108232 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 80108232 80108232 C T SNP GNAT3 ENST00000398291 human ensembl 74_37 -1 known missense c.386 p.R129Q 0.963 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 GNAT3 HGNC ENSG00000214415 116 0 0 60 17 22.0779 GLCCI1 0 genome.wustl.edu 37 7 8125841 8125841 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 8125841 8125841 G A SNP GLCCI1 ENST00000223145 human ensembl 74_37 +1 known silent c.1317 p.S439 1.000 NULL NULL - no_errors GLCCI1 HGNC ENSG00000106415 155 0 0 94 39 29.3233 PCLO 0 genome.wustl.edu 37 7 82544741 82544741 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 82544741 82544741 C T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.12561 p.K4187 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 65 0 0 44 11 20 SUN1 0 genome.wustl.edu 37 7 888201 888201 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 888201 888201 T C SNP SUN1 ENST00000456758 human ensembl 74_37 +1 known missense c.979 p.S327P 1.000 NULL pfam_SUN1,pfam_Sad1_UNC_C - no_errors SUN1 HGNC ENSG00000164828 79 0 0 66 20 23.2558 ZNF804B 0 genome.wustl.edu 37 7 88963180 88963180 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 88963180 88963180 C A SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.884 p.T295N 0.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 67 0 0 31 7 18.4211 AKAP9 0 genome.wustl.edu 37 7 91632476 91632476 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 91632476 91632476 C T SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.3281 p.S1094L 0.076 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 80 0 0 70 13 15.6627 CASD1 0 genome.wustl.edu 37 7 94168365 94168365 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 94168365 94168365 T C SNP CASD1 ENST00000297273 human ensembl 74_37 +1 known silent c.1353 p.S451 1.000 pfam_Cas1_AcylTrans_dom pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like - no_errors CASD1 HGNC ENSG00000127995 47 0 0 32 8 20 DLX5 0 genome.wustl.edu 37 7 96651485 96651485 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 96651485 96651485 C T SNP DLX5 ENST00000486603 human ensembl 74_37 -1 putative silent c.552 p.A184 0.001 smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors DLX5 HGNC ENSG00000105880 49 0 0 33 5 13.1579 BAIAP2L1 0 genome.wustl.edu 37 7 97935802 97935802 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 97935802 97935802 G A SNP BAIAP2L1 ENST00000005260 human ensembl 74_37 -1 known missense c.1190 p.T397M 0.997 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2L1 HGNC ENSG00000006453 92 0 0 66 16 19.5122 TRRAP 0 genome.wustl.edu 37 7 98534814 98534814 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 98534814 98534814 A G SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.4147 p.R1383G 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 233 0 0 157 45 22.2772 VPS13B 0 genome.wustl.edu 37 8 100844800 100844800 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 100844800 100844800 A G SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known silent c.9609 p.P3203 0.999 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 66 0 0 50 15 23.0769 SPAG1 0 genome.wustl.edu 37 8 101243518 101243518 + Splice_Site SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 101243518 101243518 C T SNP SPAG1 ENST00000251809 human ensembl 74_37 +1 known splice_site c.1988+2 e14+2 1.000 - - - no_errors SPAG1 HGNC ENSG00000104450 68 0 0 71 13 15.4762 MSRA 0 genome.wustl.edu 37 8 10159084 10159084 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 10159084 10159084 G T SNP MSRA ENST00000317173 human ensembl 74_37 +1 known missense c.372 p.Q124H 1.000 pfam_Met_Sox_Rdtase_MsrA,superfamily_Met_Sox_Rdtase_MsrA,tigrfam_Met_Sox_Rdtase_MsrA pfam_Met_Sox_Rdtase_MsrA,superfamily_Met_Sox_Rdtase_MsrA,tigrfam_Met_Sox_Rdtase_MsrA - no_errors MSRA HGNC ENSG00000175806 88 0 0 81 12 12.9032 UBR5 0 genome.wustl.edu 37 8 103297968 103297968 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 103297968 103297968 G A SNP UBR5 ENST00000520539 human ensembl 74_37 -1 known missense c.5257 p.R1753C 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 62 0 0 53 14 20.8955 RP1L1 0 genome.wustl.edu 37 8 10468221 10468221 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 10468221 10468221 C T SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known silent c.3387 p.E1129 0.021 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 60 0 0 55 20 26.6667 RP1L1 0 genome.wustl.edu 37 8 10469625 10469625 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 10469625 10469625 C T SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known silent c.1983 p.P661 0.003 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 60 0 0 62 8 11.4286 NUDCD1 0 genome.wustl.edu 37 8 110255326 110255326 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 110255326 110255326 G T SNP NUDCD1 ENST00000239690 human ensembl 74_37 -1 known missense c.1664 p.P555H 1.000 NULL pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors NUDCD1 HGNC ENSG00000120526 198 0 0 150 75 33.3333 CSMD3 0 genome.wustl.edu 37 8 113326150 113326150 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 113326150 113326150 G A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.7681 p.R2561W 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 94 0 0 80 13 13.9785 CSMD3 0 genome.wustl.edu 37 8 114448937 114448937 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 114448937 114448937 G A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.147 p.L49 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 233 0 0 206 49 19.2157 GATA4 0 genome.wustl.edu 37 8 11615818 11615818 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 11615818 11615818 C T SNP GATA4 ENST00000335135 human ensembl 74_37 +1 known missense c.1163 p.A388V 0.154 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 91 0 0 90 17 15.8879 EXT1 0 genome.wustl.edu 37 8 118819559 118819559 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 118819559 118819559 C T SNP EXT1 ENST00000378204 human ensembl 74_37 -1 known missense c.1780 p.A594T 1.000 pfam_HexNAc_Trfase_a pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT1 HGNC ENSG00000182197 53 0 0 48 14 22.5806 ENPP2 0 genome.wustl.edu 37 8 120596014 120596014 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 120596014 120596014 T C SNP ENPP2 ENST00000259486 human ensembl 74_37 -1 known missense c.1642 p.K548E 1.000 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 55 0 0 59 9 13.2353 DSCC1 0 genome.wustl.edu 37 8 120854138 120854138 + Nonsense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 120854138 120854138 G A SNP DSCC1 ENST00000313655 human ensembl 74_37 -1 known nonsense c.820 p.R274* 0.251 pfam_Sister_chromatid_cohesion_Dcc1 pfam_Sister_chromatid_cohesion_Dcc1 - no_errors DSCC1 HGNC ENSG00000136982 42 0 0 25 12 32.4324 COL14A1 0 genome.wustl.edu 37 8 121282285 121282285 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 121282285 121282285 G A SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known missense c.3085 p.A1029T 1.000 NULL pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 79 0 0 68 8 10.5263 ZHX1 0 genome.wustl.edu 37 8 124267220 124267220 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 124267220 124267220 A G SNP ZHX1 ENST00000297857 human ensembl 74_37 -1 known missense c.967 p.Y323H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZHX1 HGNC ENSG00000165156 246 1 0.404858 229 62 21.3058 ATAD2 0 genome.wustl.edu 37 8 124383982 124383982 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 124383982 124383982 C T SNP ATAD2 ENST00000287394 human ensembl 74_37 -1 known missense c.464 p.R155H 1.000 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 63 0 0 43 12 21.8182 NDUFB9 0 genome.wustl.edu 37 8 125559294 125559294 + Silent SNP T T G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 125559294 125559294 T G SNP NDUFB9 ENST00000276689 human ensembl 74_37 +1 known silent c.348 p.P116 0.938 NULL pfam_Complex1_LYR - no_errors NDUFB9 HGNC ENSG00000147684 217 0 0 187 52 21.7573 KIAA0196 0 genome.wustl.edu 37 8 126062902 126062902 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 126062902 126062902 A G SNP KIAA0196 ENST00000318410 human ensembl 74_37 -1 known silent c.2103 p.D701 1.000 pfam_WASH_strumpellin pfam_WASH_strumpellin,superfamily_Ig_E-set - no_errors KIAA0196 HGNC ENSG00000164961 57 0 0 40 4 9.09091 FAM49B 0 genome.wustl.edu 37 8 130863080 130863080 + Splice_Site SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 130863080 130863080 C T SNP FAM49B ENST00000401979 human ensembl 74_37 -1 known splice_site c.713+1 e7+1 1.000 - - - no_errors FAM49B HGNC ENSG00000153310 62 0 0 41 15 26.7857 PHF20L1 0 genome.wustl.edu 37 8 133848813 133848813 + Missense_Mutation SNP T T A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 133848813 133848813 T A SNP PHF20L1 ENST00000220847 human ensembl 74_37 +1 known missense c.99 p.D33E 0.998 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD - no_errors PHF20L1 HGNC ENSG00000129292 51 0 0 58 9 13.4328 TG 0 genome.wustl.edu 37 8 133913747 133913747 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 133913747 133913747 G A SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.3583 p.G1195R 0.987 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 31 0 0 13 8 38.0952 ST3GAL1 0 genome.wustl.edu 37 8 134488056 134488056 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 134488056 134488056 G A SNP ST3GAL1 ENST00000319914 human ensembl 74_37 -1 known missense c.212 p.S71L 0.062 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL1 HGNC ENSG00000008513 45 0 0 37 8 17.7778 ZFAT 0 genome.wustl.edu 37 8 135614560 135614560 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 135614560 135614560 C T SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known missense c.1402 p.V468I 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 49 0 0 34 8 19.0476 PTP4A3 0 genome.wustl.edu 37 8 142441050 142441050 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 142441050 142441050 G A SNP PTP4A3 ENST00000329397 human ensembl 74_37 +1 known missense c.428 p.S143N 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase 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 55 0 0 35 11 23.913 TOP1MT 0 genome.wustl.edu 37 8 144403471 144403471 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 144403471 144403471 T C SNP TOP1MT ENST00000329245 human ensembl 74_37 -1 known missense c.1046 p.Q349R 0.585 pfam_TopoI_cat_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI - no_errors TOP1MT HGNC ENSG00000184428 21 0 0 20 2 9.09091 ZC3H3 0 genome.wustl.edu 37 8 144547949 144547949 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 144547949 144547949 C T SNP ZC3H3 ENST00000262577 human ensembl 74_37 -1 known missense c.2245 p.V749M 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ENSG00000014164 30 0 0 49 5 9.25926 ZNF707 0 genome.wustl.edu 37 8 144776046 144776046 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 144776046 144776046 G A SNP ZNF707 ENST00000358656 human ensembl 74_37 +1 known silent c.462 p.T154 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 ZNF707 HGNC ENSG00000181135 19 0 0 14 8 36.3636 SPATC1 0 genome.wustl.edu 37 8 145101719 145101719 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 145101719 145101719 C T SNP SPATC1 ENST00000377470 human ensembl 74_37 +1 known silent c.1638 p.G546 0.002 NULL NULL - no_errors SPATC1 HGNC ENSG00000186583 33 0 0 34 7 17.0732 FBXL6 0 genome.wustl.edu 37 8 145580725 145580725 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 145580725 145580725 A G SNP FBXL6 ENST00000331890 human ensembl 74_37 -1 known silent c.696 p.G232 0.065 smart_Leu-rich_rpt_Cys-con_subtyp superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors FBXL6 HGNC ENSG00000182325 30 0 0 21 7 25 SLC52A2 0 genome.wustl.edu 37 8 145583729 145583729 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 145583729 145583729 G A SNP SLC52A2 ENST00000329994 human ensembl 74_37 +1 known missense c.577 p.A193T 0.907 NULL pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A2 HGNC ENSG00000185803 58 0 0 46 13 22.0339 SLC39A4 0 genome.wustl.edu 37 8 145638280 145638280 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 145638280 145638280 G A SNP SLC39A4 ENST00000301305 human ensembl 74_37 -1 known silent c.1678 p.L560 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A4 HGNC ENSG00000147804 8 0 0 10 5 33.3333 CYHR1 0 genome.wustl.edu 37 8 145689776 145689776 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 145689776 145689776 C T SNP CYHR1 ENST00000306145 human ensembl 74_37 -1 known missense c.313 p.G105S 0.871 NULL NULL - no_errors CYHR1 HGNC ENSG00000187954 29 0 0 30 6 16.6667 RECQL4 0 genome.wustl.edu 37 8 145741187 145741187 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 145741187 145741187 C T SNP RECQL4 ENST00000428558 human ensembl 74_37 -1 known missense c.1219 p.E407K 0.567 NULL 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 31 0 0 20 12 37.5 LRRC14 0 genome.wustl.edu 37 8 145749481 145749481 + RNA SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 145749481 145749481 G A SNP LRRC14 ENST00000528528 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LRRC14 HGNC ENSG00000160959 104 1 0.952381 110 23 17.2932 SLC7A2 0 genome.wustl.edu 37 8 17401110 17401110 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 17401110 17401110 G A SNP SLC7A2 ENST00000004531 human ensembl 74_37 +1 known missense c.382 p.E128K 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease - no_errors SLC7A2 HGNC ENSG00000003989 46 0 0 29 23 44.2308 CSGALNACT1 0 genome.wustl.edu 37 8 19263582 19263582 + Splice_Site SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 19263582 19263582 T C SNP CSGALNACT1 ENST00000311540 human ensembl 74_37 -1 known splice_site c.1310-2 e7-2 1.000 - - - no_errors CSGALNACT1 HGNC ENSG00000147408 88 0 0 54 41 43.1579 ZNF596 0 genome.wustl.edu 37 8 196042 196042 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 196042 196042 G T SNP ZNF596 ENST00000308811 human ensembl 74_37 +1 known missense c.1195 p.A399S 0.755 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 ZNF596 HGNC ENSG00000172748 96 0 0 79 18 18.5567 CCAR2 0 genome.wustl.edu 37 8 22471699 22471699 + Missense_Mutation SNP T T G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 22471699 22471699 T G SNP CCAR2 ENST00000308511 human ensembl 74_37 +1 known missense c.799 p.F267V 1.000 NULL superfamily_NA-bd_OB-fold - no_errors CCAR2 HGNC ENSG00000158941 42 0 0 35 15 30 CCAR2 0 genome.wustl.edu 37 8 22473240 22473240 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 22473240 22473240 G A SNP CCAR2 ENST00000308511 human ensembl 74_37 +1 known missense c.1423 p.A475T 0.993 NULL superfamily_NA-bd_OB-fold - no_errors CCAR2 HGNC ENSG00000158941 54 0 0 76 15 16.4835 EGR3 0 genome.wustl.edu 37 8 22548748 22548748 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 22548748 22548748 C A SNP EGR3 ENST00000317216 human ensembl 74_37 -1 known missense c.402 p.Q134H 1.000 pfam_DUF3446 pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR3 HGNC ENSG00000179388 27 0 0 22 12 35.2941 RHOBTB2 0 genome.wustl.edu 37 8 22868168 22868168 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 22868168 22868168 C T SNP RHOBTB2 ENST00000251822 human ensembl 74_37 +1 known missense c.1738 p.R580C 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_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 104 0 0 91 36 28.3465 LOXL2 0 genome.wustl.edu 37 8 23191084 23191084 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 23191084 23191084 T C SNP LOXL2 ENST00000389131 human ensembl 74_37 -1 known missense c.796 p.T266A 0.994 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL2 HGNC ENSG00000134013 38 0 0 42 4 8.69565 NEFL 0 genome.wustl.edu 37 8 24813138 24813138 + RNA SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 24813138 24813138 C T SNP NEFL ENST00000221169 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors NEFL HGNC ENSG00000104725 28 0 0 30 8 21.0526 ADRA1A 0 genome.wustl.edu 37 8 26721708 26721708 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 26721708 26721708 C A SNP ADRA1A ENST00000380586 human ensembl 74_37 -1 known missense c.779 p.R260M 0.998 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_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA1A HGNC ENSG00000120907 30 0 0 42 10 19.2308 PTK2B 0 genome.wustl.edu 37 8 27296915 27296915 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 27296915 27296915 G A SNP PTK2B ENST00000346049 human ensembl 74_37 +1 known missense c.1834 p.A612T 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_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2B HGNC ENSG00000120899 78 0 0 54 29 34.9398 NUGGC 0 genome.wustl.edu 37 8 27922180 27922180 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 27922180 27922180 G A SNP NUGGC ENST00000341513 human ensembl 74_37 -1 known silent c.780 p.A260 0.000 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors NUGGC HGNC ENSG00000189233 42 0 0 59 10 14.4928 NUGGC 0 genome.wustl.edu 37 8 27925085 27925085 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 27925085 27925085 C T SNP NUGGC ENST00000341513 human ensembl 74_37 -1 known silent c.657 p.A219 0.000 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors NUGGC HGNC ENSG00000189233 34 0 0 27 10 27.027 EXTL3 0 genome.wustl.edu 37 8 28573543 28573543 + RNA SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 28573543 28573543 C T SNP EXTL3 ENST00000519886 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors EXTL3 HGNC ENSG00000012232 19 0 0 12 6 33.3333 KIF13B 0 genome.wustl.edu 37 8 29025013 29025013 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 29025013 29025013 C T SNP KIF13B ENST00000524189 human ensembl 74_37 -1 known silent c.1035 p.R345 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom 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 99 0 0 77 20 20.6186 CSMD1 0 genome.wustl.edu 37 8 3019715 3019715 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 3019715 3019715 A G SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.5813 p.L1938P 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 CSMD1 HGNC ENSG00000183117 30 0 0 19 7 26.9231 TUBBP1 0 genome.wustl.edu 37 8 30209758 30209758 + RNA SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 30209758 30209758 G T SNP TUBBP1 ENST00000518096 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBBP1 HGNC ENSG00000127589 83 0 0 71 11 13.4146 NRG1 0 genome.wustl.edu 37 8 32472059 32472059 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 32472059 32472059 C T SNP NRG1 ENST00000338921 human ensembl 74_37 +1 known missense c.428 p.T143I 1.000 NULL 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 77 0 0 67 15 18.2927 PROSC 0 genome.wustl.edu 37 8 37632909 37632909 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 37632909 37632909 C T SNP PROSC ENST00000328195 human ensembl 74_37 +1 known silent c.507 p.N169 0.000 pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001 pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001 - no_errors PROSC HGNC ENSG00000147471 226 0 0 204 52 20.3125 ADAM9 0 genome.wustl.edu 37 8 38912036 38912036 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 38912036 38912036 T C SNP ADAM9 ENST00000487273 human ensembl 74_37 +1 known missense c.1339 p.C447R 0.999 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM9 HGNC ENSG00000168615 88 0 0 39 23 37.0968 IDO2 0 genome.wustl.edu 37 8 39872860 39872860 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 39872860 39872860 C T SNP IDO2 ENST00000502986 human ensembl 74_37 +1 known silent c.1002 p.I334 0.568 pfam_Indolamine_dOase pfam_Indolamine_dOase - no_errors IDO2 HGNC ENSG00000188676 67 0 0 54 13 19.403 KAT6A 0 genome.wustl.edu 37 8 41798536 41798536 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 41798536 41798536 G T SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.2863 p.P955T 0.525 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 99 0 0 122 25 17.0068 POTEA 0 genome.wustl.edu 37 8 43173622 43173622 + RNA SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 43173622 43173622 T C SNP POTEA ENST00000522175 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors POTEA HGNC ENSG00000188877 96 0 0 89 18 16.8224 PRKDC 0 genome.wustl.edu 37 8 48809839 48809839 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 48809839 48809839 G A SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known silent c.3480 p.S1160 0.000 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 217 0 0 198 45 18.5185 MCM4 0 genome.wustl.edu 37 8 48888298 48888298 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 48888298 48888298 C T SNP MCM4 ENST00000262105 human ensembl 74_37 +1 known missense c.2389 p.R797W 1.000 NULL pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase - no_errors MCM4 HGNC ENSG00000104738 52 0 0 42 16 27.5862 ST18 0 genome.wustl.edu 37 8 53055565 53055565 + Missense_Mutation SNP T T A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 53055565 53055565 T A SNP ST18 ENST00000276480 human ensembl 74_37 -1 known missense c.2093 p.K698M 0.999 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 86 0 0 26 51 66.2338 FAM110B 0 genome.wustl.edu 37 8 59059757 59059757 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 59059757 59059757 A G SNP FAM110B ENST00000361488 human ensembl 74_37 +1 known missense c.968 p.D323G 1.000 NULL NULL - no_errors FAM110B HGNC ENSG00000169122 45 0 0 37 9 19.5652 ARFGEF1 0 genome.wustl.edu 37 8 68189648 68189648 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 68189648 68189648 T C SNP ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known missense c.1072 p.I358V 0.958 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 64 0 0 59 8 11.9403 SLCO5A1 0 genome.wustl.edu 37 8 70744031 70744031 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 70744031 70744031 A G SNP SLCO5A1 ENST00000260126 human ensembl 74_37 -1 known missense c.878 p.V293A 1.000 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 SLCO5A1 HGNC ENSG00000137571 85 0 0 51 29 36.25 ZFHX4 0 genome.wustl.edu 37 8 77617605 77617605 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 77617605 77617605 T C SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.1282 p.S428P 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 51 0 0 68 10 12.8205 SGK223 0 genome.wustl.edu 37 8 8185550 8185550 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 8185550 8185550 G A SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known silent c.2742 p.P914 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,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 29 0 0 31 8 20.5128 PAG1 0 genome.wustl.edu 37 8 81897170 81897170 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 81897170 81897170 A G SNP PAG1 ENST00000220597 human ensembl 74_37 -1 known silent c.717 p.S239 0.355 NULL NULL - no_errors PAG1 HGNC ENSG00000076641 100 0 0 84 18 17.6471 MFHAS1 0 genome.wustl.edu 37 8 8748408 8748408 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 8748408 8748408 C T SNP MFHAS1 ENST00000276282 human ensembl 74_37 -1 known missense c.2161 p.A721T 0.940 NULL pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_typical-subtyp - no_errors MFHAS1 HGNC ENSG00000147324 36 0 0 47 5 9.61538 ERI1 0 genome.wustl.edu 37 8 8869198 8869198 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 8869198 8869198 C T SNP ERI1 ENST00000250263 human ensembl 74_37 +1 known missense c.434 p.P145L 0.986 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 59 0 0 31 13 29.5455 TNKS 0 genome.wustl.edu 37 8 9634228 9634228 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 9634228 9634228 C T SNP TNKS ENST00000310430 human ensembl 74_37 +1 known silent c.3966 p.A1322 0.020 NULL 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 44 0 0 54 19 26.0274 MATN2 0 genome.wustl.edu 37 8 98943434 98943434 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 98943434 98943434 G A SNP MATN2 ENST00000254898 human ensembl 74_37 +1 known silent c.396 p.T132 0.002 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors MATN2 HGNC ENSG00000132561 53 0 0 27 8 22.8571 GABBR2 0 genome.wustl.edu 37 9 101340346 101340346 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 101340346 101340346 G A SNP GABBR2 ENST00000259455 human ensembl 74_37 -1 known silent c.330 p.N110 0.981 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I 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 67 0 0 29 16 35.5556 PTPN3 0 genome.wustl.edu 37 9 112166777 112166777 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 112166777 112166777 G A SNP PTPN3 ENST00000374541 human ensembl 74_37 -1 known missense c.1904 p.A635V 0.946 pirsf_Tyr_Pase_non-rcpt_typ-3/4 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,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,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN3 HGNC ENSG00000070159 102 0 0 44 10 18.5185 SVEP1 0 genome.wustl.edu 37 9 113261516 113261516 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 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 51 0 0 21 6 22.2222 DNAJC25-GNG10 0 genome.wustl.edu 37 9 114429191 114429191 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 114429191 114429191 C T SNP DNAJC25-GNG10 ENST00000374294 human ensembl 74_37 +1 known missense c.433 p.R145W 1.000 pfam_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma pfam_DnaJ_domain,pfam_G-protein_gamma-like_dom,superfamily_DnaJ_domain,smart_DnaJ_domain,smart_G-protein_gamma-like_dom,pfscan_DnaJ_domain,pfscan_G-protein_gamma-like_dom,prints_DnaJ_domain,prints_Gprotein-gamma - no_errors DNAJC25-GNG10 HGNC ENSG00000244115 43 0 0 17 8 32 WDR31 0 genome.wustl.edu 37 9 116082681 116082681 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 116082681 116082681 T C SNP WDR31 ENST00000374193 human ensembl 74_37 -1 known missense c.736 p.I246V 0.001 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR31 HGNC ENSG00000148225 81 0 0 44 15 25.4237 TNC 0 genome.wustl.edu 37 9 117838694 117838694 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 117838694 117838694 T C SNP TNC ENST00000350763 human ensembl 74_37 -1 known silent c.2835 p.Q945 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 TNC HGNC ENSG00000041982 126 0 0 60 23 27.7108 DAB2IP 0 genome.wustl.edu 37 9 124532969 124532969 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 124532969 124532969 C T SNP DAB2IP ENST00000408936 human ensembl 74_37 +1 known silent c.2044 p.L682 1.000 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 44 0 0 27 7 20.5882 OR1L3 0 genome.wustl.edu 37 9 125437936 125437936 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 125437936 125437936 T C SNP OR1L3 ENST00000304820 human ensembl 74_37 +1 known silent c.528 p.H176 0.947 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 OR1L3 HGNC ENSG00000171481 152 0 0 72 26 26.5306 PDCL 0 genome.wustl.edu 37 9 125582383 125582383 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 125582383 125582383 C T SNP PDCL ENST00000259467 human ensembl 74_37 -1 known missense c.887 p.S296N 0.992 pfam_Phosducin_thioredoxin-like_dom pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,prints_Phosducin - no_errors PDCL HGNC ENSG00000136940 79 0 0 42 12 22.2222 RABGAP1 0 genome.wustl.edu 37 9 125760928 125760928 + Missense_Mutation SNP G G T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 125760928 125760928 G T SNP RABGAP1 ENST00000373647 human ensembl 74_37 +1 known missense c.1257 p.Q419H 1.000 pfam_Kinesin-like pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 137 0 0 56 31 35.6322 TYRP1 0 genome.wustl.edu 37 9 12694013 12694013 + Missense_Mutation SNP T T A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 12694013 12694013 T A SNP TYRP1 ENST00000388918 human ensembl 74_37 +1 known missense c.17 p.L6H 0.001 NULL pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYRP1 HGNC ENSG00000107165 87 0 0 55 15 21.4286 ANGPTL2 0 genome.wustl.edu 37 9 129870708 129870708 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 129870708 129870708 C T SNP ANGPTL2 ENST00000373425 human ensembl 74_37 -1 known silent c.303 p.R101 0.999 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL2 HGNC ENSG00000136859 21 0 0 15 3 16.6667 FAM129B 0 genome.wustl.edu 37 9 130294048 130294048 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 130294048 130294048 C T SNP FAM129B ENST00000373312 human ensembl 74_37 -1 known missense c.65 p.G22E 0.910 NULL pfscan_Pleckstrin_homology - no_errors FAM129B HGNC ENSG00000136830 56 0 0 24 4 14.2857 ABL1 0 genome.wustl.edu 37 9 133730285 133730285 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 133730285 133730285 G A SNP ABL1 ENST00000372348 human ensembl 74_37 +1 known silent c.408 p.T136 0.018 pfam_SH3_2,smart_SH3_domain,pfscan_SH3_domain 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 78 0 0 38 9 19.1489 DDX31 0 genome.wustl.edu 37 9 135537951 135537951 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 135537951 135537951 G A SNP DDX31 ENST00000372159 human ensembl 74_37 -1 known silent c.522 p.N174 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX31 HGNC ENSG00000125485 110 0 0 37 16 30.1887 REXO4 0 genome.wustl.edu 37 9 136279942 136279942 + Nonsense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 136279942 136279942 C T SNP REXO4 ENST00000371935 human ensembl 74_37 -1 known nonsense c.237 p.W79* 0.000 smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO4 HGNC ENSG00000148300 52 0 0 34 8 19.0476 ADAMTS13 0 genome.wustl.edu 37 9 136310835 136310835 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 136310835 136310835 G A SNP ADAMTS13 ENST00000371929 human ensembl 74_37 +1 known missense c.2626 p.A876T 0.012 NULL 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 26 0 0 12 9 42.8571 TMEM8C 0 genome.wustl.edu 37 9 136384042 136384042 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 136384042 136384042 T C SNP TMEM8C ENST00000339996 human ensembl 74_37 -1 known missense c.353 p.Y118C 1.000 pfam_DUF3522 pfam_DUF3522 - no_errors TMEM8C HGNC ENSG00000187616 58 0 0 37 13 26 AGPAT2 0 genome.wustl.edu 37 9 139571494 139571494 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 139571494 139571494 G A SNP AGPAT2 ENST00000371696 human ensembl 74_37 -1 known silent c.411 p.G137 0.293 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,tigrfam_AGP_acyltrans pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,tigrfam_AGP_acyltrans - no_errors AGPAT2 HGNC ENSG00000169692 57 0 0 44 20 31.25 TMEM203 0 genome.wustl.edu 37 9 140099729 140099729 + Missense_Mutation SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 140099729 140099729 C A SNP TMEM203 ENST00000343666 human ensembl 74_37 -1 known missense c.138 p.W46C 1.000 pfam_TM_Fragile-X-F-assoc pfam_TM_Fragile-X-F-assoc - no_errors TMEM203 HGNC ENSG00000187713 14 0 0 8 5 38.4615 CACNA1B 0 genome.wustl.edu 37 9 140852062 140852062 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 140852062 140852062 C T SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known missense c.1259 p.A420V 0.976 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 12 0 0 12 4 25 PSIP1 0 genome.wustl.edu 37 9 15474206 15474206 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 15474206 15474206 T C SNP PSIP1 ENST00000380733 human ensembl 74_37 -1 known missense c.659 p.K220R 1.000 NULL pfam_LEDGF,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom,prints_Treacle-like_TCS - no_errors PSIP1 HGNC ENSG00000164985 163 0 0 75 28 27.1845 CBWD1 0 genome.wustl.edu 37 9 163985 163985 + Silent SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 163985 163985 A G SNP CBWD1 ENST00000356521 human ensembl 74_37 -1 known silent c.483 p.Y161 0.999 pfam_CobW/HypB/UreG_dom,superfamily_P-loop_NTPase pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_P-loop_NTPase,superfamily_Cbl_biosynth_CobW-like_C - no_errors CBWD1 HGNC ENSG00000172785 64 0 0 32 7 17.9487 FOCAD 0 genome.wustl.edu 37 9 20923740 20923740 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 20923740 20923740 C T SNP FOCAD ENST00000338382 human ensembl 74_37 +1 known silent c.2934 p.L978 0.989 superfamily_ARM-type_fold pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 44 0 0 19 3 13.6364 PTENP1 0 genome.wustl.edu 37 9 33675379 33675379 + RNA SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 33675379 33675379 C A SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors PTENP1 HGNC ENSG00000237984 16 0 0 6 3 33.3333 PTENP1 0 genome.wustl.edu 37 9 33675400 33675400 + RNA SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 33675400 33675400 G A SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PTENP1 HGNC ENSG00000237984 24 0 0 11 3 21.4286 OR13J1 0 genome.wustl.edu 37 9 35869831 35869831 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 35869831 35869831 C T SNP OR13J1 ENST00000377981 human ensembl 74_37 -1 known missense c.568 p.G190S 0.074 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 OR13J1 HGNC ENSG00000168828 53 0 0 24 13 35.1351 UHRF2 0 genome.wustl.edu 37 9 6475403 6475403 + Silent SNP A A T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 6475403 6475403 A T SNP UHRF2 ENST00000276893 human ensembl 74_37 +1 known silent c.876 p.G292 0.686 NULL 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 167 0 0 97 23 19.1667 KDM4C 0 genome.wustl.edu 37 9 7015920 7015920 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 7015920 7015920 G A SNP KDM4C ENST00000381309 human ensembl 74_37 +1 known silent c.2250 p.A750 0.046 superfamily_Znf_FYVE_PHD pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC ENSG00000107077 77 0 0 38 7 15.5556 TJP2 0 genome.wustl.edu 37 9 71827497 71827497 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 71827497 71827497 T C SNP TJP2 ENST00000539225 human ensembl 74_37 +1 known missense c.187 p.Y63H 1.000 superfamily_PDZ,prints_ZonOcculS2 pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS2,prints_ZonOcculdens - no_errors TJP2 HGNC ENSG00000119139 91 0 0 36 5 12.1951 SMC5 0 genome.wustl.edu 37 9 72897463 72897463 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 72897463 72897463 C T SNP SMC5 ENST00000361138 human ensembl 74_37 +1 known silent c.945 p.N315 0.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase - no_errors SMC5 HGNC ENSG00000198887 99 0 0 53 20 27.3973 SMC5 0 genome.wustl.edu 37 9 72965075 72965075 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 72965075 72965075 A G SNP SMC5 ENST00000361138 human ensembl 74_37 +1 known missense c.2935 p.S979G 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 53 0 0 24 5 17.2414 KANK1 0 genome.wustl.edu 37 9 732477 732477 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 732477 732477 G A SNP KANK1 ENST00000382297 human ensembl 74_37 +1 known silent c.3105 p.E1035 1.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 108 0 0 47 22 31.8841 SPATA31D1 0 genome.wustl.edu 37 9 84607323 84607323 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 84607323 84607323 C T SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known silent c.1938 p.S646 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 75 0 0 28 11 28.2051 ZCCHC6 0 genome.wustl.edu 37 9 88940282 88940282 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 88940282 88940282 T C SNP ZCCHC6 ENST00000375963 human ensembl 74_37 -1 known missense c.1756 p.K586E 1.000 pfam_PAP_assoc pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ENSG00000083223 107 0 0 59 4 6.34921 SPATA31C1 0 genome.wustl.edu 37 9 90535641 90535641 + RNA SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 90535641 90535641 G A SNP SPATA31C1 ENST00000602681 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA31C1 HGNC ENSG00000230246 187 0 0 99 28 22.0472 SPTLC1 0 genome.wustl.edu 37 9 94809515 94809515 + Silent SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 94809515 94809515 C T SNP SPTLC1 ENST00000262554 human ensembl 74_37 -1 known silent c.1020 p.S340 0.003 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors SPTLC1 HGNC ENSG00000090054 93 0 0 36 13 26.5306 DMRT3 0 genome.wustl.edu 37 9 990546 990546 + Silent SNP C C A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 990546 990546 C A SNP DMRT3 ENST00000190165 human ensembl 74_37 +1 known silent c.960 p.S320 1.000 NULL pfam_DM_DNA-bd,pfam_DMA,superfamily_DM_DNA-bd,superfamily_UBA-like,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT3 HGNC ENSG00000064218 83 0 0 33 19 36.5385 MT-ND5 0 genome.wustl.edu 37 MT 13018 13018 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 MT 13018 13018 G A SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.682 p.G228S NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 708 1 0.141044 117 495 80.8824 AMOT 0 genome.wustl.edu 37 X 112054510 112054510 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 X 112054510 112054510 G A SNP AMOT ENST00000371959 human ensembl 74_37 -1 known missense c.1504 p.R502W 1.000 superfamily_Prefoldin pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC ENSG00000126016 199 2 0.995025 79 32 28.8288 GRIA3 0 genome.wustl.edu 37 X 122616765 122616765 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 X 122616765 122616765 C T SNP GRIA3 ENST00000264357 human ensembl 74_37 +1 known missense c.2555 p.A852V 1.000 NULL 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 111 0 0 55 4 6.77966 ACTRT1 0 genome.wustl.edu 37 X 127185298 127185298 + Silent SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 X 127185298 127185298 T C SNP ACTRT1 ENST00000371124 human ensembl 74_37 -1 known silent c.888 p.A296 0.997 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT1 HGNC ENSG00000123165 125 0 0 43 24 35.8209 FAM127A 0 genome.wustl.edu 37 X 134167176 134167176 + RNA SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 X 134167176 134167176 G A SNP FAM127A ENST00000464369 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM127A HGNC ENSG00000134590 13 0 0 3 2 40 F9 0 genome.wustl.edu 37 X 138644004 138644004 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 X 138644004 138644004 A G SNP F9 ENST00000218099 human ensembl 74_37 +1 known missense c.1160 p.K387R 0.001 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 116 0 0 34 22 39.2857 GEMIN8 0 genome.wustl.edu 37 X 14027111 14027111 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 X 14027111 14027111 G A SNP GEMIN8 ENST00000380523 human ensembl 74_37 -1 known missense c.650 p.A217V 0.987 NULL NULL - no_errors GEMIN8 HGNC ENSG00000046647 106 0 0 31 23 42.5926 CD99L2 0 genome.wustl.edu 37 X 149983362 149983362 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 X 149983362 149983362 G A SNP CD99L2 ENST00000370377 human ensembl 74_37 -1 known missense c.250 p.R84C 0.002 NULL pfam_CD99L2 - no_errors CD99L2 HGNC ENSG00000102181 187 0 0 100 6 5.66038 PLXNB3 0 genome.wustl.edu 37 X 153040420 153040420 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 X 153040420 153040420 C T SNP PLXNB3 ENST00000538282 human ensembl 74_37 +1 known missense c.2920 p.R974C 0.001 NULL pfam_IPT,pfam_Plexin_repeat,superfamily_Ig_E-set,superfamily_Plexin-like_fold,superfamily_Semap_dom,smart_Plexin-like_fold,smart_IPT - no_errors PLXNB3 HGNC ENSG00000198753 38 0 0 11 8 42.1053 SPRY3 0 genome.wustl.edu 37 X 155003589 155003589 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 X 155003589 155003589 G A SNP SPRY3 ENST00000302805 human ensembl 74_37 +1 known missense c.56 p.R19H 1.000 NULL pfam_Sprouty - no_errors SPRY3 HGNC ENSG00000168939 129 0 0 40 25 38.4615 CA5BP1 0 genome.wustl.edu 37 X 15711085 15711085 + Splice_Site SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 X 15711085 15711085 G A SNP CA5BP1 ENST00000380331 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.970 - - - no_errors CA5BP1 HGNC ENSG00000186312 68 0 0 23 11 32.3529 CDKL5 0 genome.wustl.edu 37 X 18622050 18622050 + Nonsense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 X 18622050 18622050 C T SNP CDKL5 ENST00000379989 human ensembl 74_37 +1 known nonsense c.1006 p.Q336* 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 CDKL5 HGNC ENSG00000008086 242 0 0 91 56 38.0952 PPP2R3B 0 genome.wustl.edu 37 X 299553 299553 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 X 299553 299553 T C SNP PPP2R3B ENST00000390665 human ensembl 74_37 -1 known missense c.1430 p.Y477C 1.000 NULL pfscan_EF_hand_dom - no_errors PPP2R3B HGNC ENSG00000167393 58 0 0 23 11 32.3529 SUV39H1 0 genome.wustl.edu 37 X 48558962 48558962 + Missense_Mutation SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 X 48558962 48558962 G A SNP SUV39H1 ENST00000337852 human ensembl 74_37 +1 known missense c.679 p.G227R 1.000 pfam_Pre-SET_dom,smart_Pre-SET_Zn-bd_sub,pirsf_Histone_H3-K9_MeTrfase,pfscan_Pre-SET_dom pfam_SET_dom,pfam_Pre-SET_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,smart_Post-SET_dom,pirsf_Histone_H3-K9_MeTrfase,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom,pfscan_Chromo_domain/shadow - no_errors SUV39H1 HGNC ENSG00000101945 25 0 0 9 8 47.0588 NLGN4X 0 genome.wustl.edu 37 X 5821797 5821797 + Missense_Mutation SNP T T C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 X 5821797 5821797 T C SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known missense c.982 p.M328V 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 87 0 0 26 14 35 MED12 0 genome.wustl.edu 37 X 70348474 70348474 + Silent SNP G G A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 X 70348474 70348474 G A SNP MED12 ENST00000333646 human ensembl 74_37 +1 known silent c.3381 p.S1127 0.966 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 56 0 0 10 9 47.3684 MED12 0 genome.wustl.edu 37 X 70353001 70353001 + Missense_Mutation SNP A A G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 X 70353001 70353001 A G SNP MED12 ENST00000333646 human ensembl 74_37 +1 known missense c.4556 p.Y1519C 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 84 0 0 21 18 46.1538 XIST 0 genome.wustl.edu 37 X 73047637 73047637 + RNA SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 X 73047637 73047637 C T SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 37 0 0 10 3 23.0769 SATL1 0 genome.wustl.edu 37 X 84363304 84363304 + Missense_Mutation SNP C C T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 X 84363304 84363304 C T SNP SATL1 ENST00000509231 human ensembl 74_37 -1 known missense c.671 p.S224N 0.003 NULL superfamily_Acyl_CoA_acyltransferase - no_errors SATL1 HGNC ENSG00000184788 90 0 0 51 3 5.55556 CHI3L2 0 genome.wustl.edu 37 1 111781482 111781482 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 111781482 111781482 G - DEL CHI3L2 ENST00000369748 human ensembl 74_37 +1 known frame_shift_del c.846 p.A284fs 0.804 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CHI3L2 HGNC ENSG00000064886 74 0 0 53 13 19.697 PHTF1 0 genome.wustl.edu 37 1 114248545 114248546 + Frame_Shift_Ins INS - - A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 114248545 114248546 - A INS PHTF1 ENST00000369604 human ensembl 74_37 -1 known frame_shift_ins c.1638_1637 p.M547fs 0.997:1.000 NULL pfam_TF_homeodomain_male - no_errors PHTF1 HGNC ENSG00000116793 84 0 0 39 12 23.5294 PIAS3 0 genome.wustl.edu 37 1 145580195 145580195 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 145580195 145580195 T - DEL PIAS3 ENST00000393045 human ensembl 74_37 +1 known frame_shift_del c.677 p.P228fs 1.000 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS3 HGNC ENSG00000131788 125 0 0 114 15 11.6279 ADAMTSL4 0 genome.wustl.edu 37 1 150529494 150529494 + Frame_Shift_Del DEL C C - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 150529494 150529494 C - DEL ADAMTSL4 ENST00000369039 human ensembl 74_37 +1 known frame_shift_del c.1898 p.P634fs 0.477 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ENSG00000143382 182 0 0 185 30 13.9535 ADAMTSL4 0 genome.wustl.edu 37 1 150530506 150530506 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 150530506 150530506 G - DEL ADAMTSL4 ENST00000369039 human ensembl 74_37 +1 known frame_shift_del c.2332 p.G780fs 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ENSG00000143382 30 0 0 41 7 14.5833 PI4KB 0 genome.wustl.edu 37 1 151288877 151288877 + Frame_Shift_Del DEL C C - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 151288877 151288877 C - DEL PI4KB ENST00000271657 human ensembl 74_37 -1 known frame_shift_del c.117 p.S40fs 0.871 NULL 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 49 0 0 65 10 13.3333 ADAR 0 genome.wustl.edu 37 1 154557360 154557360 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 154557360 154557360 T - DEL ADAR ENST00000292205 human ensembl 74_37 -1 known frame_shift_del c.3732 p.G1245fs 0.093 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin 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 95 0 0 85 12 12.3711 ASH1L 0 genome.wustl.edu 37 1 155449753 155449753 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 155449753 155449753 T - DEL ASH1L ENST00000368346 human ensembl 74_37 -1 known frame_shift_del c.2908 p.I970fs 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 86 0 0 99 15 13.1579 ASH1L 0 genome.wustl.edu 37 1 155450116 155450116 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 155450116 155450116 T - DEL ASH1L ENST00000368346 human ensembl 74_37 -1 known frame_shift_del c.2545 p.I849fs 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 161 0 0 101 14 12.1739 COPA 0 genome.wustl.edu 37 1 160295427 160295427 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 160295427 160295427 T - DEL COPA ENST00000368069 human ensembl 74_37 -1 known frame_shift_del c.512 p.N171fs 1.000 superfamily_WD40_repeat_dom,pirsf_Coatomer_asu,pfscan_WD40_repeat_dom 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 87 0 0 110 12 9.83607 ENSG00000228863 0 genome.wustl.edu 37 1 160640798 160640798 + RNA DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 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 21 0 0 17 7 29.1667 NUF2 0 genome.wustl.edu 37 1 163306561 163306561 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 163306561 163306561 T - DEL NUF2 ENST00000271452 human ensembl 74_37 +1 known frame_shift_del c.358 p.L121fs 0.996 pfam_Kinetochore_Nuf2 pfam_Kinetochore_Nuf2 - no_errors NUF2 HGNC ENSG00000143228 74 0 0 70 5 6.66667 GPR161 0 genome.wustl.edu 37 1 168054869 168054869 + Frame_Shift_Del DEL C C - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 168054869 168054869 C - DEL GPR161 ENST00000537209 human ensembl 74_37 -1 known frame_shift_del c.1550 p.G517fs 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR161 HGNC ENSG00000143147 64 0 0 69 12 14.8148 F5 0 genome.wustl.edu 37 1 169494110 169494112 + In_Frame_Del DEL ATG ATG - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 ATG ATG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 169494110 169494112 ATG - DEL F5 ENST00000367797 human ensembl 74_37 -1 known in_frame_del c.5753_5751 p.I1918in_frame_del 0.995:0.965:0.198 superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 83 0 0 65 7 9.72222 PADI3 0 genome.wustl.edu 37 1 17607262 17607262 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 17607262 17607262 A - DEL PADI3 ENST00000375460 human ensembl 74_37 +1 known frame_shift_del c.1732 p.A580fs 0.723 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI3 HGNC ENSG00000142619 121 0 0 66 14 17.5 PADI4 0 genome.wustl.edu 37 1 17666222 17666222 + Frame_Shift_Del DEL C C - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 17666222 17666222 C - DEL PADI4 ENST00000375448 human ensembl 74_37 +1 known frame_shift_del c.566 p.K191fs 0.379 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 PADI4 HGNC ENSG00000159339 62 0 0 32 7 17.9487 NCF2 0 genome.wustl.edu 37 1 183533152 183533152 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 183533152 183533152 T - DEL NCF2 ENST00000367535 human ensembl 74_37 -1 known frame_shift_del c.1014 p.E339fs 0.999 superfamily_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_TPR_1,pfam_OPR_PB1,superfamily_SH3_domain,smart_TPR_repeat,smart_SH3_domain,smart_OPR_PB1,pfscan_SH3_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_p67phox,prints_SH3_domain - no_errors NCF2 HGNC ENSG00000116701 242 0 0 232 26 10.0775 RGL1 0 genome.wustl.edu 37 1 183857685 183857685 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 183857685 183857685 A - DEL RGL1 ENST00000304685 human ensembl 74_37 +1 known frame_shift_del c.1134 p.K380fs 0.998 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 RGL1 HGNC ENSG00000143344 128 0 0 117 11 8.59375 UBR4 0 genome.wustl.edu 37 1 19467923 19467923 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 19467923 19467923 G - DEL UBR4 ENST00000375267 human ensembl 74_37 -1 known frame_shift_del c.8406 p.M2803fs 0.484 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 52 0 0 31 9 22.5 TMCO4 0 genome.wustl.edu 37 1 20066382 20066382 + Frame_Shift_Del DEL C C - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 20066382 20066382 C - DEL TMCO4 ENST00000294543 human ensembl 74_37 -1 known frame_shift_del c.1114 p.V372fs 0.999 pfam_DUF726,pfam_DUF900_hydrolase pfam_DUF726,pfam_DUF900_hydrolase - no_errors TMCO4 HGNC ENSG00000162542 37 0 0 30 10 25 CACNA1S 0 genome.wustl.edu 37 1 201079310 201079312 + In_Frame_Del DEL GTT GTT - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 GTT GTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 201079310 201079312 GTT - DEL CACNA1S ENST00000362061 human ensembl 74_37 -1 known in_frame_del c.240_238 p.N80in_frame_del 0.996:1.000:1.000 prints_VDCC_L_a1su 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 70 0 0 75 12 13.7931 GOLT1A 0 genome.wustl.edu 37 1 204172078 204172080 + In_Frame_Del DEL GAA GAA - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 204172078 204172080 GAA - DEL GOLT1A ENST00000308302 human ensembl 74_37 -1 known in_frame_del c.63_61 p.F21in_frame_del 1.000:1.000:1.000 pfam_Vesicle_transpt_Got1/SFT2 pfam_Vesicle_transpt_Got1/SFT2 - no_errors GOLT1A HGNC ENSG00000174567 66 0 0 74 4 5.12821 CR2 0 genome.wustl.edu 37 1 207642044 207642044 + Frame_Shift_Del DEL C C - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 207642044 207642044 C - DEL CR2 ENST00000367057 human ensembl 74_37 +1 known frame_shift_del c.618 p.T209fs 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 146 0 0 154 24 13.4831 TMEM206 0 genome.wustl.edu 37 1 212548597 212548597 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 212548597 212548597 T - DEL TMEM206 ENST00000535273 human ensembl 74_37 -1 known frame_shift_del c.1012 p.S338fs 0.016 NULL NULL - no_errors TMEM206 HGNC ENSG00000065600 70 0 0 48 11 18.6441 MIA3 0 genome.wustl.edu 37 1 222832843 222832844 + Frame_Shift_Ins INS - - T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 222832843 222832844 - T INS MIA3 ENST00000344441 human ensembl 74_37 +1 known frame_shift_ins c.4758_4759 p.K1587fs 0.667:0.998 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 74 0 0 98 13 11.7117 SLC35F3 0 genome.wustl.edu 37 1 234444893 234444893 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 234444893 234444893 T - DEL SLC35F3 ENST00000366617 human ensembl 74_37 +1 known frame_shift_del c.448 p.F151fs 1.000 NULL pfam_DMT,pfam_Tpt_PEP_trans_dom,pfam_SLC35_F1/F2/F6 - no_errors SLC35F3 HGNC ENSG00000183780 50 0 0 56 10 15.1515 ARID4B 0 genome.wustl.edu 37 1 235345419 235345419 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 235345419 235345419 T - DEL ARID4B ENST00000264183 human ensembl 74_37 -1 known frame_shift_del c.2815 p.T939fs 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 80 0 0 70 7 9.09091 RYR2 0 genome.wustl.edu 37 1 237969494 237969494 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 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 42 0 0 43 10 18.8679 CHRM3 0 genome.wustl.edu 37 1 240072444 240072444 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 240072444 240072444 A - DEL CHRM3 ENST00000255380 human ensembl 74_37 +1 known frame_shift_del c.1693 p.K567fs 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 42 0 0 66 7 9.58904 PGBD2 0 genome.wustl.edu 37 1 249211828 249211828 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 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 143 0 0 130 23 15.0327 GRIK3 0 genome.wustl.edu 37 1 37346390 37346391 + Frame_Shift_Ins INS - - G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 37346390 37346391 - G INS GRIK3 ENST00000373091 human ensembl 74_37 -1 known frame_shift_ins c.395_394 p.H132fs 1.000:1.000 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 GRIK3 HGNC ENSG00000163873 55 0 0 37 5 11.9048 ZMPSTE24 0 genome.wustl.edu 37 1 40724004 40724004 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 40724004 40724004 G - DEL ZMPSTE24 ENST00000372759 human ensembl 74_37 +1 known frame_shift_del c.61 p.A22fs 1.000 NULL pfam_Peptidase_M48 - no_errors ZMPSTE24 HGNC ENSG00000084073 56 0 0 27 8 22.8571 SMAP2 0 genome.wustl.edu 37 1 40878734 40878734 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 40878734 40878734 A - DEL SMAP2 ENST00000372718 human ensembl 74_37 +1 known frame_shift_del c.449 p.K152fs 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP2 HGNC ENSG00000084070 69 0 0 48 7 12.7273 NASP 0 genome.wustl.edu 37 1 46073055 46073055 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 46073055 46073055 A - DEL NASP ENST00000402363 human ensembl 74_37 +1 known frame_shift_del c.478 p.T162fs 0.999 NULL pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NASP HGNC ENSG00000132780 76 0 0 57 9 13.6364 ZCCHC11 0 genome.wustl.edu 37 1 52991780 52991780 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 52991780 52991780 T - DEL ZCCHC11 ENST00000257177 human ensembl 74_37 -1 known frame_shift_del c.173 p.N58fs 0.998 NULL pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ENSG00000134744 72 0 0 34 10 22.7273 C1orf168 0 genome.wustl.edu 37 1 57258099 57258099 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 57258099 57258099 T - DEL C1orf168 ENST00000343433 human ensembl 74_37 -1 known frame_shift_del c.387 p.V130fs 0.012 NULL superfamily_SH3_domain - no_errors C1orf168 HGNC ENSG00000187889 151 0 0 79 22 21.7822 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 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 42 0 0 18 9 33.3333 SGIP1 0 genome.wustl.edu 37 1 67099769 67099769 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 67099769 67099769 A - DEL SGIP1 ENST00000237247 human ensembl 74_37 +1 known frame_shift_del c.106 p.K38fs 0.997 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 19 0 0 17 7 29.1667 FPGT 0 genome.wustl.edu 37 1 74670596 74670597 + Frame_Shift_Ins INS - - A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 74670596 74670597 - A INS FPGT ENST00000370898 human ensembl 74_37 +1 known frame_shift_ins c.904_905 p.I304fs 0.995:0.991 pfam_Fucokinase,pirsf_Fucose-1-phosphate_GuaTrfase pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase - no_errors FPGT HGNC ENSG00000254685 48 0 0 16 7 30.4348 USP33 0 genome.wustl.edu 37 1 78204970 78204970 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 1 78204970 78204970 T - DEL USP33 ENST00000357428 human ensembl 74_37 -1 known frame_shift_del c.424 p.I142fs 0.882 NULL pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP33 HGNC ENSG00000077254 155 0 0 74 24 24.4898 ADD3 0 genome.wustl.edu 37 10 111893350 111893350 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 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 120 1 0.826446 80 12 13.0435 STAM 0 genome.wustl.edu 37 10 17735288 17735290 + In_Frame_Del DEL AAG AAG - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 17735288 17735290 AAG - DEL STAM ENST00000377524 human ensembl 74_37 +1 known in_frame_del c.512_514 p.E174in_frame_del 1.000:1.000:1.000 pfam_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox - no_errors STAM HGNC ENSG00000136738 99 0 0 62 11 15.0685 AKR1E2 0 genome.wustl.edu 37 10 4889684 4889684 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 4889684 4889684 A - DEL AKR1E2 ENST00000298375 human ensembl 74_37 +1 known frame_shift_del c.925 p.N310fs 0.017 superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1E2 HGNC ENSG00000165568 92 0 0 48 16 25 MICU1 0 genome.wustl.edu 37 10 74267946 74267946 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 74267946 74267946 A - DEL MICU1 ENST00000398761 human ensembl 74_37 -1 known frame_shift_del c.625 p.S209fs 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MICU1 HGNC ENSG00000107745 20 0 0 9 4 30.7692 NDST2 0 genome.wustl.edu 37 10 75567575 75567575 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 75567575 75567575 A - DEL NDST2 ENST00000309979 human ensembl 74_37 -1 known frame_shift_del c.572 p.L191fs 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST2 HGNC ENSG00000166507 50 0 0 29 5 14.7059 FAM35A 0 genome.wustl.edu 37 10 88950340 88950340 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 88950340 88950340 T - DEL FAM35A ENST00000298786 human ensembl 74_37 +1 known frame_shift_del c.2615 p.F873fs 0.697 NULL NULL - no_errors FAM35A HGNC ENSG00000122376 120 0 0 72 17 19.1011 LARP4B 0 genome.wustl.edu 37 10 890939 890939 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 890939 890939 T - DEL LARP4B ENST00000316157 human ensembl 74_37 -1 known frame_shift_del c.487 p.T163fs 1.000 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 80 0 0 51 9 15 PTEN 0 genome.wustl.edu 37 10 89717770 89717770 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 89717770 89717770 A - DEL PTEN ENST00000371953 human ensembl 74_37 +1 known frame_shift_del c.795 p.K267fs 0.994 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 58 0 0 38 12 24 STAMBPL1 0 genome.wustl.edu 37 10 90682146 90682146 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 90682146 90682146 A - DEL STAMBPL1 ENST00000371927 human ensembl 74_37 +1 known frame_shift_del c.1207 p.K405fs 1.000 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors STAMBPL1 HGNC ENSG00000138134 80 0 0 51 17 25 ZNF518A 0 genome.wustl.edu 37 10 97918856 97918856 + RNA DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 10 97918856 97918856 A - DEL ZNF518A ENST00000316045 human ensembl 74_37 +1 known rna NULL NULL 0.867 - - - no_errors ZNF518A HGNC ENSG00000177853 57 0 0 27 12 30.7692 MSANTD4 0 genome.wustl.edu 37 11 105880356 105880356 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 105880356 105880356 A - DEL MSANTD4 ENST00000301919 human ensembl 74_37 -1 known frame_shift_del c.944 p.L315fs 1.000 NULL NULL - no_errors MSANTD4 HGNC ENSG00000170903 99 0 0 87 11 11.2245 CLDN25 0 genome.wustl.edu 37 11 113650551 113650551 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 113650551 113650551 G - DEL CLDN25 ENST00000453129 human ensembl 74_37 +1 known frame_shift_del c.34 p.L14fs 0.952 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN25 HGNC ENSG00000228607 102 0 0 73 38 34.2342 CD3G 0 genome.wustl.edu 37 11 118220583 118220583 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 118220583 118220583 A - DEL CD3G ENST00000532917 human ensembl 74_37 +1 known frame_shift_del c.205 p.K71fs 0.000 smart_Ig_sub2 pfam_Phos_immunorcpt_sig_ITAM,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM - no_errors CD3G HGNC ENSG00000160654 56 0 0 58 8 12.1212 DDX6 0 genome.wustl.edu 37 11 118629613 118629614 + Splice_Site INS - - G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 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 120 0 0 95 33 25.7812 C1QTNF5 0 genome.wustl.edu 37 11 119210189 119210190 + Frame_Shift_Ins INS - - C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 119210189 119210190 - C INS C1QTNF5 ENST00000445041 human ensembl 74_37 -1 known frame_shift_ins c.584_583 p.A195fs 1.000:0.976 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF5 HGNC ENSG00000223953 34 0 0 34 4 10.5263 MICALCL 0 genome.wustl.edu 37 11 12315879 12315879 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 12315879 12315879 A - DEL MICALCL ENST00000256186 human ensembl 74_37 +1 known frame_shift_del c.901 p.T302fs 0.006 NULL pfam_DUF3585,smart_ProQ/FinO - no_errors MICALCL HGNC ENSG00000133808 133 0 0 90 33 26.8293 THYN1 0 genome.wustl.edu 37 11 134118753 134118753 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 134118753 134118753 T - DEL THYN1 ENST00000341541 human ensembl 74_37 -1 known frame_shift_del c.581 p.N194fs 0.971 pfam_EVE_domain,superfamily_PUA-like_domain pfam_EVE_domain,superfamily_PUA-like_domain - no_errors THYN1 HGNC ENSG00000151500 75 0 0 54 13 19.403 SLC6A5 0 genome.wustl.edu 37 11 20676319 20676319 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 20676319 20676319 G - DEL SLC6A5 ENST00000525748 human ensembl 74_37 +1 known frame_shift_del c.2299 p.E768fs 1.000 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A5 HGNC ENSG00000165970 107 0 0 59 25 29.7619 LGR4 0 genome.wustl.edu 37 11 27401816 27401817 + Splice_Site DEL AC AC - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 27401816 27401817 AC - DEL LGR4 ENST00000379214 human ensembl 74_37 -1 known splice_site_del c.971+1_971+1 e10+1 1.000:1.000 - - - no_errors LGR4 HGNC ENSG00000205213 148 0 0 107 16 13.0081 PAX6 0 genome.wustl.edu 37 11 31812317 31812317 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 31812317 31812317 G - DEL PAX6 ENST00000379107 human ensembl 74_37 -1 known frame_shift_del c.1166 p.P389fs 1.000 NULL pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX6 HGNC ENSG00000007372 56 0 0 43 13 23.2143 QSER1 0 genome.wustl.edu 37 11 32997895 32997895 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 32997895 32997895 A - DEL QSER1 ENST00000399302 human ensembl 74_37 +1 known frame_shift_del c.5083 p.N1697fs 1.000 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 46 0 0 26 34 56.6667 B4GALNT4 0 genome.wustl.edu 37 11 372694 372695 + Frame_Shift_Ins INS - - G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 372694 372695 - G INS B4GALNT4 ENST00000329962 human ensembl 74_37 +1 known frame_shift_ins c.288_289 p.A98fs 0.001:0.000 NULL pfam_Chond_GalNAc,pfam_PA14,smart_PA14 - no_errors B4GALNT4 HGNC ENSG00000182272 11 0 0 13 5 27.7778 TRIM51HP 0 genome.wustl.edu 37 11 55065031 55065032 + RNA INS - - T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 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 63 0 0 35 10 22.2222 OR4P4 0 genome.wustl.edu 37 11 55406142 55406142 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 55406142 55406142 T - DEL OR4P4 ENST00000314612 human ensembl 74_37 +1 known frame_shift_del c.309 p.F105fs 0.097 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 OR4P4 HGNC ENSG00000181927 137 0 0 89 15 14.4231 TRIM51 0 genome.wustl.edu 37 11 55653610 55653610 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 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 45 0 0 34 9 20.9302 MS4A10 0 genome.wustl.edu 37 11 60558552 60558553 + Frame_Shift_Ins INS - - G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 60558552 60558553 - G INS MS4A10 ENST00000308287 human ensembl 74_37 +1 known frame_shift_ins c.289_290 p.A99fs 1.000:1.000 pfam_CD20-like pfam_CD20-like - no_errors MS4A10 HGNC ENSG00000172689 62 0 0 54 5 8.47458 SLC3A2 0 genome.wustl.edu 37 11 62649529 62649529 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 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 101 0 0 63 20 24.0964 RAB1B 0 genome.wustl.edu 37 11 66039887 66039888 + Frame_Shift_Ins INS - - G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 66039887 66039888 - G INS RAB1B ENST00000311481 human ensembl 74_37 +1 known frame_shift_ins c.235_236 p.A81fs 1.000:1.000 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 45 0 0 28 11 28.2051 ANO1 0 genome.wustl.edu 37 11 70013392 70013393 + Frame_Shift_Ins INS - - C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 70013392 70013393 - C INS ANO1 ENST00000355303 human ensembl 74_37 +1 known frame_shift_ins c.2096_2097 p.D702fs 0.016:0.004 pfam_Anoctamin pfam_Anoctamin - no_errors ANO1 HGNC ENSG00000131620 46 0 0 27 6 18.1818 INPPL1 0 genome.wustl.edu 37 11 71948209 71948209 + Frame_Shift_Del DEL C C - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 71948209 71948209 C - DEL INPPL1 ENST00000298229 human ensembl 74_37 +1 known frame_shift_del c.2921 p.P976fs 0.066 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 45 0 0 45 6 11.7647 INTS4 0 genome.wustl.edu 37 11 77633436 77633436 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 77633436 77633436 A - DEL INTS4 ENST00000534064 human ensembl 74_37 -1 known frame_shift_del c.1596 p.F532fs 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors INTS4 HGNC ENSG00000149262 43 0 0 22 3 12 CCDC90B 0 genome.wustl.edu 37 11 82984691 82984691 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 82984691 82984691 T - DEL CCDC90B ENST00000529689 human ensembl 74_37 -1 known frame_shift_del c.593 p.K198fs 1.000 pfam_DUF1640 pfam_DUF1640 - no_errors CCDC90B HGNC ENSG00000137500 52 0 0 20 11 35.4839 KDM4D 0 genome.wustl.edu 37 11 94731303 94731303 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 11 94731303 94731303 A - DEL KDM4D ENST00000335080 human ensembl 74_37 +1 known frame_shift_del c.767 p.N257fs 0.020 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4D HGNC ENSG00000186280 49 0 0 35 16 31.3725 GNPTAB 0 genome.wustl.edu 37 12 102158446 102158446 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 102158446 102158446 T - DEL GNPTAB ENST00000299314 human ensembl 74_37 -1 known frame_shift_del c.2249 p.N750fs 0.000 pfam_DMAP1-bd pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 58 0 0 38 8 17.3913 MTERFD3 0 genome.wustl.edu 37 12 107371383 107371383 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 107371383 107371383 T - DEL MTERFD3 ENST00000240050 human ensembl 74_37 -1 known frame_shift_del c.1110 p.V371fs 1.000 NULL pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERFD3 HGNC ENSG00000120832 75 0 0 51 11 17.7419 PLBD2 0 genome.wustl.edu 37 12 113824823 113824823 + Frame_Shift_Del DEL C C - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 113824823 113824823 C - DEL PLBD2 ENST00000280800 human ensembl 74_37 +1 known frame_shift_del c.1368 p.R458fs 0.980 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD2 HGNC ENSG00000151176 58 0 0 36 6 14.2857 FBXO21 0 genome.wustl.edu 37 12 117624320 117624320 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 117624320 117624320 A - DEL FBXO21 ENST00000330622 human ensembl 74_37 -1 known frame_shift_del c.432 p.F144fs 1.000 superfamily_F-box_dom pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom,tigrfam_Hemimethylated_DNA-bd_dom - no_errors FBXO21 HGNC ENSG00000135108 68 0 0 39 8 17.0213 KNTC1 0 genome.wustl.edu 37 12 123087620 123087620 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 123087620 123087620 A - DEL KNTC1 ENST00000333479 human ensembl 74_37 +1 known frame_shift_del c.4931 p.K1646fs 1.000 pfam_RZZ-complex_KNTC1/ROD_C pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 61 0 0 36 8 18.1818 PLEKHA5 0 genome.wustl.edu 37 12 19427544 19427545 + Frame_Shift_Ins INS - - A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 19427544 19427545 - A INS PLEKHA5 ENST00000317589 human ensembl 74_37 +1 known frame_shift_ins c.922_923 p.N310fs 1.000:1.000 NULL pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA5 HGNC ENSG00000052126 75 0 0 30 6 16.6667 ITPR2 0 genome.wustl.edu 37 12 26640045 26640046 + Frame_Shift_Ins INS - - T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 26640045 26640046 - T INS ITPR2 ENST00000381340 human ensembl 74_37 -1 known frame_shift_ins c.5510_5509 p.R1837fs 0.999:1.000 superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 126 0 0 68 8 10.5263 KMT2D 0 genome.wustl.edu 37 12 49434936 49434936 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 49434936 49434936 G - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_del c.6617 p.P2206fs 0.843 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 10 0 0 6 3 33.3333 FAM186B 0 genome.wustl.edu 37 12 49981464 49981464 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 49981464 49981464 T - DEL FAM186B ENST00000257894 human ensembl 74_37 -1 known frame_shift_del c.2606 p.K869fs 1.000 NULL NULL - no_errors FAM186B HGNC ENSG00000135436 32 0 0 28 4 12.5 CBX5 0 genome.wustl.edu 37 12 54645832 54645832 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 54645832 54645832 T - DEL CBX5 ENST00000209875 human ensembl 74_37 -1 known frame_shift_del c.317 p.K106fs 1.000 superfamily_Chromodomain-like pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX5 HGNC ENSG00000094916 175 0 0 91 20 18.018 DGKA 0 genome.wustl.edu 37 12 56347513 56347514 + Frame_Shift_Ins INS - - C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 56347513 56347514 - C INS DGKA ENST00000331886 human ensembl 74_37 +1 known frame_shift_ins c.2169_2170 p.R725fs 0.158:0.749 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKA HGNC ENSG00000065357 54 0 0 35 8 18.6047 MYO1A 0 genome.wustl.edu 37 12 57422573 57422573 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 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 110 0 0 54 15 21.7391 GNS 0 genome.wustl.edu 37 12 65141513 65141513 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 65141513 65141513 A - DEL GNS ENST00000258145 human ensembl 74_37 -1 known frame_shift_del c.438 p.F146fs 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase - no_errors GNS HGNC ENSG00000135677 52 0 0 32 9 21.9512 TMBIM4 0 genome.wustl.edu 37 12 66539677 66539677 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 66539677 66539677 A - DEL TMBIM4 ENST00000358230 human ensembl 74_37 -1 known frame_shift_del c.408 p.F136fs 1.000 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors TMBIM4 HGNC ENSG00000155957 47 0 0 28 11 28.2051 YEATS4 0 genome.wustl.edu 37 12 69784045 69784045 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 69784045 69784045 A - DEL YEATS4 ENST00000247843 human ensembl 74_37 +1 known frame_shift_del c.633 p.N213fs 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS4 HGNC ENSG00000127337 69 0 0 38 14 26.9231 MYF6 0 genome.wustl.edu 37 12 81101546 81101547 + Frame_Shift_Ins INS - - G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 81101546 81101547 - G INS MYF6 ENST00000228641 human ensembl 74_37 +1 known frame_shift_ins c.48_49 p.E17fs 0.689:1.000 pfam_Basic,smart_Basic pfam_Basic,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYF6 HGNC ENSG00000111046 54 0 0 37 8 17.7778 ELK3 0 genome.wustl.edu 37 12 96641028 96641029 + Frame_Shift_Ins INS - - C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 12 96641028 96641029 - C INS ELK3 ENST00000228741 human ensembl 74_37 +1 known frame_shift_ins c.518_519 p.V176fs 0.017:0.019 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELK3 HGNC ENSG00000111145 23 0 0 21 6 22.2222 LIG4 0 genome.wustl.edu 37 13 108862142 108862142 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 13 108862142 108862142 G - DEL LIG4 ENST00000356922 human ensembl 74_37 -1 known frame_shift_del c.1475 p.P492fs 0.545 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_DNA_ligase_IV,pfam_BRCT_dom,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_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG4 HGNC ENSG00000174405 193 0 0 112 13 10.4 CAB39L 0 genome.wustl.edu 37 13 49906086 49906086 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 13 49906086 49906086 A - DEL CAB39L ENST00000347776 human ensembl 74_37 -1 known frame_shift_del c.831 p.F277fs 1.000 pfam_Mo25,superfamily_ARM-type_fold pfam_Mo25,superfamily_ARM-type_fold - no_errors CAB39L HGNC ENSG00000102547 138 0 0 92 28 23.3333 KPNA3 0 genome.wustl.edu 37 13 50279819 50279819 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 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 113 0 0 109 15 12.0968 NEK3 0 genome.wustl.edu 37 13 52718829 52718829 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 13 52718829 52718829 G - DEL NEK3 ENST00000452082 human ensembl 74_37 -1 known frame_shift_del c.864 p.E289fs 0.061 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK3 HGNC ENSG00000136098 40 0 0 25 7 21.875 RBM26 0 genome.wustl.edu 37 13 79918807 79918807 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 13 79918807 79918807 T - DEL RBM26 ENST00000438724 human ensembl 74_37 -1 known frame_shift_del c.2109 p.K703fs 1.000 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM26 HGNC ENSG00000139746 47 0 0 51 5 8.92857 CEP170B 0 genome.wustl.edu 37 14 105353063 105353063 + Frame_Shift_Del DEL C C - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 105353063 105353063 C - DEL CEP170B ENST00000453495 human ensembl 74_37 +1 known frame_shift_del c.2490 p.P832fs 0.940 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170B HGNC ENSG00000099814 25 0 0 8 4 33.3333 HNRNPC 0 genome.wustl.edu 37 14 21679537 21679537 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 21679537 21679537 T - DEL HNRNPC ENST00000336053 human ensembl 74_37 -1 putative frame_shift_del c.826 p.R276fs 0.882 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 65 0 0 36 5 12.1951 L2HGDH 0 genome.wustl.edu 37 14 50769634 50769634 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 50769634 50769634 T - DEL L2HGDH ENST00000267436 human ensembl 74_37 -1 known frame_shift_del c.242 p.K81fs 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors L2HGDH HGNC ENSG00000087299 118 0 0 92 25 21.3675 ESR2 0 genome.wustl.edu 37 14 64746715 64746715 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 64746715 64746715 A - DEL ESR2 ENST00000341099 human ensembl 74_37 -1 known frame_shift_del c.519 p.F173fs 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_Estrogen_rcpt_beta_N,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 - no_errors ESR2 HGNC ENSG00000140009 357 0 0 140 54 27.8351 ZBTB25 0 genome.wustl.edu 37 14 64953932 64953933 + Frame_Shift_Del DEL AC AC - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 64953932 64953933 AC - DEL ZBTB25 ENST00000394715 human ensembl 74_37 -1 known frame_shift_del c.1017_1016 p.C339fs 1.000:1.000 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 ZBTB25 HGNC ENSG00000089775 131 0 0 61 20 24.6914 ENSG00000259648 0 genome.wustl.edu 37 14 68082855 68082855 + RNA DEL C C - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 68082855 68082855 C - DEL ENSG00000259648 ENST00000559968 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-643G16.4 Clone_based_vega_gene ENSG00000259648 69 0 0 49 8 14.0351 CLMN 0 genome.wustl.edu 37 14 95662949 95662949 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 14 95662949 95662949 T - DEL CLMN ENST00000298912 human ensembl 74_37 -1 known frame_shift_del c.2594 p.K865fs 1.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors CLMN HGNC ENSG00000165959 57 0 0 50 11 18.0328 LOC101927079 0 genome.wustl.edu 37 15 22332504 22332505 + RNA INS - - T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 22332504 22332505 - T INS LOC101927079 ENST00000558896 human ensembl 74_37 +1 known rna NULL NULL 0.304:0.319 - - - no_errors RP11-69H14.6 Clone_based_vega_gene ENSG00000259176 164 0 0 102 11 9.73451 SNORD116-29 0 genome.wustl.edu 37 15 25351684 25351684 + RNA DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 25351684 25351684 A - DEL SNORD116-29 ENST00000384516 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD116-29 HGNC ENSG00000207245 80 0 0 50 10 16.6667 OCA2 0 genome.wustl.edu 37 15 28200305 28200305 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 28200305 28200305 T - DEL OCA2 ENST00000354638 human ensembl 74_37 -1 known frame_shift_del c.1841 p.K614fs 1.000 pfam_Cit_transptr-like_dom,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 154 0 0 66 27 29.0323 HERC2 0 genome.wustl.edu 37 15 28443624 28443626 + In_Frame_Del DEL AGA AGA - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 28443624 28443626 AGA - DEL HERC2 ENST00000261609 human ensembl 74_37 -1 known in_frame_del c.7911_7909 p.S2637in_frame_del 0.831:1.000:1.000 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 105 0 0 56 13 18.8406 EIF2AK4 0 genome.wustl.edu 37 15 40326639 40326639 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 40326639 40326639 A - DEL EIF2AK4 ENST00000263791 human ensembl 74_37 +1 known frame_shift_del c.4886 p.K1631fs 1.000 pirsf_Ser/Thr_kinase_GCN2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_dom - no_errors EIF2AK4 HGNC ENSG00000128829 84 0 0 33 12 26.6667 BAHD1 0 genome.wustl.edu 37 15 40758201 40758201 + Frame_Shift_Del DEL C C - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 40758201 40758201 C - DEL BAHD1 ENST00000416165 human ensembl 74_37 +1 known frame_shift_del c.2215 p.S741fs 1.000 pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHD1 HGNC ENSG00000140320 86 0 0 55 12 17.9104 ZNF106 0 genome.wustl.edu 37 15 42742590 42742591 + Frame_Shift_Ins INS - - T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 42742590 42742591 - T INS ZNF106 ENST00000263805 human ensembl 74_37 -1 known frame_shift_ins c.1811_1810 p.I604fs 0.000:0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZNF106 HGNC ENSG00000103994 212 0 0 113 19 14.3939 EIF3J 0 genome.wustl.edu 37 15 44843099 44843099 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 44843099 44843099 A - DEL EIF3J ENST00000261868 human ensembl 74_37 +1 known frame_shift_del c.173 p.E61fs 1.000 pfam_eIF3j pfam_eIF3j - no_errors EIF3J HGNC ENSG00000104131 130 0 0 55 13 19.1176 UNC13C 0 genome.wustl.edu 37 15 54527275 54527276 + Frame_Shift_Ins INS - - A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 54527275 54527276 - A INS UNC13C ENST00000260323 human ensembl 74_37 +1 known frame_shift_ins c.3119_3120 p.T1043fs 1.000:1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 67 0 0 33 5 13.1579 ZNF609 0 genome.wustl.edu 37 15 64967247 64967247 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 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 240 0 0 143 30 17.341 CHRNB4 0 genome.wustl.edu 37 15 78917347 78917348 + Frame_Shift_Ins INS - - G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 78917347 78917348 - G INS CHRNB4 ENST00000412074 human ensembl 74_37 -1 putative frame_shift_ins c.646_645 p.S215fs 0.259:0.275 NULL pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNB4 HGNC ENSG00000117971 11 0 0 7 6 46.1538 TTC23 0 genome.wustl.edu 37 15 99701948 99701948 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 15 99701948 99701948 T - DEL TTC23 ENST00000262074 human ensembl 74_37 -1 known frame_shift_del c.990 p.E331fs 0.396 NULL smart_TPR_repeat - no_errors TTC23 HGNC ENSG00000103852 54 0 0 28 7 20 TVP23A 0 genome.wustl.edu 37 16 10868933 10868933 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 10868933 10868933 A - DEL TVP23A ENST00000299866 human ensembl 74_37 -1 known frame_shift_del c.110 p.F37fs 1.000 pfam_DUF846_euk pfam_DUF846_euk - no_errors TVP23A HGNC ENSG00000166676 33 0 0 13 5 27.7778 CACNA1H 0 genome.wustl.edu 37 16 1270496 1270496 + Frame_Shift_Del DEL C C - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 1270496 1270496 C - DEL CACNA1H ENST00000348261 human ensembl 74_37 +1 known frame_shift_del c.6564 p.C2191fs 0.999 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 28 0 0 35 5 12.5 DNAH3 0 genome.wustl.edu 37 16 21063028 21063028 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 21063028 21063028 G - DEL DNAH3 ENST00000261383 human ensembl 74_37 -1 known frame_shift_del c.4201 p.R1401fs 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 120 0 0 77 11 12.5 KIAA0556 0 genome.wustl.edu 37 16 27761235 27761235 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 27761235 27761235 G - DEL KIAA0556 ENST00000261588 human ensembl 74_37 +1 known frame_shift_del c.2954 p.D987fs 1.000 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 35 0 0 36 4 10 NFAT5 0 genome.wustl.edu 37 16 69726420 69726422 + In_Frame_Del DEL CAG CAG - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 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 41 0 0 27 2 6.89655 WDR90 0 genome.wustl.edu 37 16 709106 709106 + Frame_Shift_Del DEL C C - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 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 34 0 0 30 4 11.7647 MARVELD3 0 genome.wustl.edu 37 16 71668442 71668442 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 71668442 71668442 G - DEL MARVELD3 ENST00000268485 human ensembl 74_37 +1 known frame_shift_del c.942 p.Y317fs 0.000 NULL NULL - no_errors MARVELD3 HGNC ENSG00000140832 35 0 0 42 5 10.6383 ZFHX3 0 genome.wustl.edu 37 16 72821960 72821960 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 72821960 72821960 G - DEL ZFHX3 ENST00000268489 human ensembl 74_37 -1 known frame_shift_del c.10215 p.A3407fs 0.977 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 16 0 0 23 4 14.8148 USP10 0 genome.wustl.edu 37 16 84778544 84778544 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 84778544 84778544 A - DEL USP10 ENST00000570191 human ensembl 74_37 +1 known frame_shift_del c.469 p.K158fs 1.000 NULL pfam_Peptidase_C19/C67,pfam_Ataxin-2_C,pfscan_Peptidase_C19/C67 - no_errors USP10 HGNC ENSG00000103194 54 0 0 39 12 23.5294 GSE1 0 genome.wustl.edu 37 16 85682289 85682290 + Frame_Shift_Ins INS - - C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 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 30 0 0 41 7 14.5833 MTHFSD 0 genome.wustl.edu 37 16 86582174 86582174 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 16 86582174 86582174 T - DEL MTHFSD ENST00000360900 human ensembl 74_37 -1 known frame_shift_del c.247 p.T83fs 1.000 pfam_FTHF_cligase pfam_FTHF_cligase,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MTHFSD HGNC ENSG00000103248 55 0 0 48 4 7.69231 TTC19 0 genome.wustl.edu 37 17 15909838 15909838 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 15909838 15909838 A - DEL TTC19 ENST00000486880 human ensembl 74_37 +1 known frame_shift_del c.995 p.I334fs 0.865 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC19 HGNC ENSG00000011295 94 0 0 55 19 25.6757 NUFIP2 0 genome.wustl.edu 37 17 27614342 27614342 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 27614342 27614342 T - DEL NUFIP2 ENST00000225388 human ensembl 74_37 -1 known frame_shift_del c.670 p.R224fs 1.000 NULL NULL - no_errors NUFIP2 HGNC ENSG00000108256 145 0 0 83 25 23.1481 NSRP1 0 genome.wustl.edu 37 17 28505167 28505167 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 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 100 0 0 48 13 21.3115 PLD2 0 genome.wustl.edu 37 17 4726022 4726022 + Frame_Shift_Del DEL C C - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 4726022 4726022 C - DEL PLD2 ENST00000263088 human ensembl 74_37 +1 known frame_shift_del c.2665 p.L891fs 1.000 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 48 0 0 33 6 15.3846 PRR11 0 genome.wustl.edu 37 17 57247171 57247172 + Frame_Shift_Del DEL AA AA - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 57247171 57247172 AA - DEL PRR11 ENST00000262293 human ensembl 74_37 +1 known frame_shift_del c.58_59 p.K22fs 0.749:0.729 NULL NULL - no_errors PRR11 HGNC ENSG00000068489 57 0 0 54 14 20.5882 CHD3 0 genome.wustl.edu 37 17 7794048 7794048 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 17 7794048 7794048 G - DEL CHD3 ENST00000330494 human ensembl 74_37 +1 known frame_shift_del c.373 p.Q127fs 0.984 NULL 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 25 0 0 7 4 36.3636 ROCK1 0 genome.wustl.edu 37 18 18533678 18533679 + Frame_Shift_Ins INS - - T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 18 18533678 18533679 - T INS ROCK1 ENST00000399799 human ensembl 74_37 -1 known frame_shift_ins c.3922_3921 p.W1307fs 1.000:1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology 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 82 0 0 93 7 7 TRAPPC8 0 genome.wustl.edu 37 18 29453418 29453418 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 18 29453418 29453418 A - DEL TRAPPC8 ENST00000283351 human ensembl 74_37 -1 known frame_shift_del c.2037 p.F679fs 1.000 NULL NULL - no_errors TRAPPC8 HGNC ENSG00000153339 33 0 0 38 6 13.6364 SETBP1 0 genome.wustl.edu 37 18 42530559 42530560 + Frame_Shift_Ins INS - - A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 18 42530559 42530560 - A INS SETBP1 ENST00000282030 human ensembl 74_37 +1 known frame_shift_ins c.1254_1255 p.R420fs 1.000:1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 92 0 0 84 18 17.6471 EPG5 0 genome.wustl.edu 37 18 43459143 43459143 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 18 43459143 43459143 A - DEL EPG5 ENST00000282041 human ensembl 74_37 -1 known frame_shift_del c.5704 p.Y1902fs 1.000 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 113 0 0 97 10 9.34579 ZNF878 0 genome.wustl.edu 37 19 12155504 12155504 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 12155504 12155504 A - DEL ZNF878 ENST00000602107 human ensembl 74_37 -1 known frame_shift_del c.853 p.S285fs 0.007 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF878 HGNC ENSG00000257446 110 0 0 35 16 31.3725 ZNF44 0 genome.wustl.edu 37 19 12384448 12384448 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 12384448 12384448 A - DEL ZNF44 ENST00000393337 human ensembl 74_37 -1 known frame_shift_del c.766 p.W256fs 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF44 HGNC ENSG00000197857 113 0 0 79 16 16.8421 CIB3 0 genome.wustl.edu 37 19 16275653 16275654 + Frame_Shift_Ins INS - - C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 16275653 16275654 - C INS CIB3 ENST00000269878 human ensembl 74_37 -1 known frame_shift_ins c.418_417 p.L139fs 1.000:1.000 NULL pfscan_EF_hand_dom - no_errors CIB3 HGNC ENSG00000141977 82 0 0 62 17 21.519 KLHL26 0 genome.wustl.edu 37 19 18779306 18779306 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 18779306 18779306 G - DEL KLHL26 ENST00000300976 human ensembl 74_37 +1 known frame_shift_del c.1099 p.Q369fs 0.998 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 KLHL26 HGNC ENSG00000167487 11 0 0 5 3 37.5 EMC10 0 genome.wustl.edu 37 19 50985132 50985132 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 50985132 50985132 G - DEL EMC10 ENST00000376918 human ensembl 74_37 +1 known frame_shift_del c.693 p.A234fs 1.000 NULL NULL - no_errors EMC10 HGNC ENSG00000161671 9 0 0 9 2 18.1818 SAFB2 0 genome.wustl.edu 37 19 5587282 5587282 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 5587282 5587282 G - DEL SAFB2 ENST00000252542 human ensembl 74_37 -1 known frame_shift_del c.2834 p.P945fs 0.100 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB2 HGNC ENSG00000130254 16 0 0 13 3 18.75 C19orf70 0 genome.wustl.edu 37 19 5679654 5679654 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 5679654 5679654 G - DEL C19orf70 ENST00000309324 human ensembl 74_37 -1 known frame_shift_del c.150 p.A51fs 0.000 NULL NULL - no_errors C19orf70 HGNC ENSG00000174917 33 0 0 24 2 7.69231 CATSPERD 0 genome.wustl.edu 37 19 5744474 5744474 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 5744474 5744474 T - DEL CATSPERD ENST00000381624 human ensembl 74_37 +1 known frame_shift_del c.610 p.S206fs 0.031 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors CATSPERD HGNC ENSG00000174898 84 0 0 47 11 18.9655 UBE2M 0 genome.wustl.edu 37 19 59068128 59068128 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 59068128 59068128 G - DEL UBE2M ENST00000253023 human ensembl 74_37 -1 known frame_shift_del c.273 p.K92fs 1.000 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 UBE2M HGNC ENSG00000130725 71 0 0 49 11 18.3333 CAMSAP3 0 genome.wustl.edu 37 19 7676981 7676981 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 7676981 7676981 G - DEL CAMSAP3 ENST00000446248 human ensembl 74_37 +1 known frame_shift_del c.1683 p.E563fs 0.000 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 19 0 0 15 4 21.0526 ACTL9 0 genome.wustl.edu 37 19 8808138 8808138 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 8808138 8808138 G - DEL ACTL9 ENST00000324436 human ensembl 74_37 -1 known frame_shift_del c.914 p.P305fs 0.998 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL9 HGNC ENSG00000181786 55 0 0 19 8 29.6296 OR7E24 0 genome.wustl.edu 37 19 9362079 9362079 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 19 9362079 9362079 T - DEL OR7E24 ENST00000456448 human ensembl 74_37 +1 known frame_shift_del c.360 p.F122fs 0.002 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 OR7E24 HGNC ENSG00000237521 66 0 0 48 10 17.2414 GCC2 0 genome.wustl.edu 37 2 109086477 109086477 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 109086477 109086477 A - DEL GCC2 ENST00000309863 human ensembl 74_37 +1 known frame_shift_del c.692 p.N233fs 1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 166 0 0 62 69 52.6718 GCC2 0 genome.wustl.edu 37 2 109089309 109089309 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 109089309 109089309 A - DEL GCC2 ENST00000309863 human ensembl 74_37 +1 known frame_shift_del c.2814 p.N940fs 0.638 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 26 0 0 28 10 26.3158 SCN3A 0 genome.wustl.edu 37 2 165947618 165947618 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 165947618 165947618 T - DEL SCN3A ENST00000283254 human ensembl 74_37 -1 known frame_shift_del c.5045 p.K1682fs 0.999 pfam_Ion_trans_dom,pfam_PKD1_2_channel 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 180 0 0 112 28 20 DHRS9 0 genome.wustl.edu 37 2 169948388 169948389 + Frame_Shift_Ins INS - - A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 169948388 169948389 - A INS DHRS9 ENST00000432060 human ensembl 74_37 +1 known frame_shift_ins c.841_842 p.L284fs 0.100:0.158 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS9 HGNC ENSG00000073737 65 0 0 35 8 18.6047 GAD1 0 genome.wustl.edu 37 2 171702523 171702523 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 171702523 171702523 A - DEL GAD1 ENST00000358196 human ensembl 74_37 +1 known frame_shift_del c.952 p.I319fs 1.000 pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD1 HGNC ENSG00000128683 111 0 0 56 17 23.2877 FSIP2 0 genome.wustl.edu 37 2 186673635 186673635 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 186673635 186673635 A - DEL FSIP2 ENST00000343098 human ensembl 74_37 +1 known frame_shift_del c.19869 p.I6625fs 0.131 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 56 0 0 43 9 17.3077 COL3A1 0 genome.wustl.edu 37 2 189861201 189861201 + Frame_Shift_Del DEL C C - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 189861201 189861201 C - DEL COL3A1 ENST00000304636 human ensembl 74_37 +1 known frame_shift_del c.1740 p.G582fs 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 COL3A1 HGNC ENSG00000168542 39 0 0 13 7 35 BMPR2 0 genome.wustl.edu 37 2 203420130 203420130 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 203420130 203420130 A - DEL BMPR2 ENST00000374580 human ensembl 74_37 +1 known frame_shift_del c.1742 p.N583fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR2 HGNC ENSG00000204217 108 0 0 39 43 52.439 AAMP 0 genome.wustl.edu 37 2 219134766 219134766 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 219134766 219134766 G - DEL AAMP ENST00000248450 human ensembl 74_37 -1 known frame_shift_del c.44 p.P15fs 0.997 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AAMP HGNC ENSG00000127837 183 0 0 146 26 15.1163 GMPPA 0 genome.wustl.edu 37 2 220366621 220366621 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 220366621 220366621 T - DEL GMPPA ENST00000313597 human ensembl 74_37 +1 known frame_shift_del c.291 p.R99fs 1.000 pfam_NTP_transferase pfam_NTP_transferase - no_errors GMPPA HGNC ENSG00000144591 108 0 0 97 7 6.73077 SLC4A3 0 genome.wustl.edu 37 2 220497729 220497729 + Frame_Shift_Del DEL C C - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 220497729 220497729 C - DEL SLC4A3 ENST00000273063 human ensembl 74_37 +1 known frame_shift_del c.1356 p.H452fs 1.000 pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 20 0 0 12 8 40 DOCK10 0 genome.wustl.edu 37 2 225729790 225729790 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 225729790 225729790 A - DEL DOCK10 ENST00000258390 human ensembl 74_37 -1 known frame_shift_del c.1272 p.F424fs 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 146 0 0 54 40 42.5532 CAPN10 0 genome.wustl.edu 37 2 241536203 241536203 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 241536203 241536203 G - DEL CAPN10 ENST00000391984 human ensembl 74_37 +1 known frame_shift_del c.1587 p.G531fs 0.079 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 27 0 0 18 3 14.2857 ASXL2 0 genome.wustl.edu 37 2 25965740 25965741 + Frame_Shift_Ins INS - - G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 25965740 25965741 - G INS ASXL2 ENST00000435504 human ensembl 74_37 -1 known frame_shift_ins c.3466_3465 p.T1155fs 0.002:0.163 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 132 0 0 112 23 17.037 SULT6B1 0 genome.wustl.edu 37 2 37414553 37414553 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 37414553 37414553 T - DEL SULT6B1 ENST00000535679 human ensembl 74_37 -1 known frame_shift_del c.257 p.K86fs 0.944 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT6B1 HGNC ENSG00000138068 53 0 0 25 14 35.8974 LHCGR 0 genome.wustl.edu 37 2 48915172 48915172 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 48915172 48915172 A - DEL LHCGR ENST00000294954 human ensembl 74_37 -1 known frame_shift_del c.1764 p.F588fs 1.000 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors LHCGR HGNC ENSG00000138039 146 0 0 86 16 15.6863 RTN4 0 genome.wustl.edu 37 2 55253746 55253746 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 55253746 55253746 T - DEL RTN4 ENST00000337526 human ensembl 74_37 -1 known frame_shift_del c.1489 p.I497fs 1.000 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN4 HGNC ENSG00000115310 100 0 0 57 14 19.7183 C2orf42 0 genome.wustl.edu 37 2 70377539 70377539 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 70377539 70377539 G - DEL C2orf42 ENST00000264434 human ensembl 74_37 -1 known frame_shift_del c.1674 p.L559fs 0.000 NULL NULL - no_errors C2orf42 HGNC ENSG00000115998 42 0 0 39 3 7.14286 ZNF638 0 genome.wustl.edu 37 2 71629145 71629147 + In_Frame_Del DEL AGA AGA - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 71629145 71629147 AGA - DEL ZNF638 ENST00000264447 human ensembl 74_37 +1 known in_frame_del c.2757_2759 p.E921in_frame_del 0.259:0.973:1.000 smart_RRM_dom 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 55 0 0 26 23 46.9388 RNF103 0 genome.wustl.edu 37 2 86831891 86831891 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 2 86831891 86831891 A - DEL RNF103 ENST00000237455 human ensembl 74_37 -1 known frame_shift_del c.1133 p.L378fs 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF103 HGNC ENSG00000239305 89 0 0 70 28 28.5714 TGM6 0 genome.wustl.edu 37 20 2384126 2384126 + Frame_Shift_Del DEL C C - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 2384126 2384126 C - DEL TGM6 ENST00000202625 human ensembl 74_37 +1 known frame_shift_del c.1073 p.Q360fs 1.000 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM6 HGNC ENSG00000166948 43 0 0 24 6 20 RBM12 0 genome.wustl.edu 37 20 34242562 34242562 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 34242562 34242562 G - DEL RBM12 ENST00000359646 human ensembl 74_37 -1 known frame_shift_del c.683 p.P228fs 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12 HGNC ENSG00000244462 66 0 0 46 7 13.2075 HNF4A 0 genome.wustl.edu 37 20 43047140 43047140 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 43047140 43047140 G - DEL HNF4A ENST00000316099 human ensembl 74_37 +1 known frame_shift_del c.724 p.V242fs 0.906 pfam_Nucl_hrmn_rcpt_lig-bd_core,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_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4 - no_errors HNF4A HGNC ENSG00000101076 67 0 0 47 14 22.9508 KCNQ2 0 genome.wustl.edu 37 20 62038661 62038661 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 20 62038661 62038661 G - DEL KCNQ2 ENST00000354587 human ensembl 74_37 -1 known frame_shift_del c.1979 p.P660fs 0.945 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 31 0 0 18 7 28 NRIP1 0 genome.wustl.edu 37 21 16338330 16338330 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 21 16338330 16338330 T - DEL NRIP1 ENST00000318948 human ensembl 74_37 -1 known frame_shift_del c.2184 p.E729fs 0.998 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 50 0 0 30 11 26.8293 HMGN1 0 genome.wustl.edu 37 21 40720231 40720231 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 21 40720231 40720231 T - DEL HMGN1 ENST00000380749 human ensembl 74_37 -1 known frame_shift_del c.113 p.K38fs 0.997 pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam - no_errors HMGN1 HGNC ENSG00000205581 86 0 0 41 10 19.6078 DSCAM 0 genome.wustl.edu 37 21 41514614 41514615 + Frame_Shift_Ins INS - - G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 21 41514614 41514615 - G INS DSCAM ENST00000400454 human ensembl 74_37 -1 known frame_shift_ins c.3277_3276 p.E1092fs 1.000:0.013 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 110 0 0 76 12 13.6364 COL18A1 0 genome.wustl.edu 37 21 46917558 46917559 + Frame_Shift_Ins INS - - C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 21 46917558 46917559 - C INS COL18A1 ENST00000359759 human ensembl 74_37 +1 known frame_shift_ins c.3911_3912 p.G1307fs 0.724:0.333 pfam_Collagen pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 10 0 0 3 3 50 CECR1 0 genome.wustl.edu 37 22 17663531 17663531 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 22 17663531 17663531 T - DEL CECR1 ENST00000262607 human ensembl 74_37 -1 known frame_shift_del c.1202 p.K401fs 0.979 pfam_A/AMP_deaminase_dom,tigrfam_Ad_deam-like pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like - no_errors CECR1 HGNC ENSG00000093072 119 0 0 79 8 9.1954 SREBF2 0 genome.wustl.edu 37 22 42271636 42271637 + Frame_Shift_Ins INS - - C TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 22 42271636 42271637 - C INS SREBF2 ENST00000361204 human ensembl 74_37 +1 known frame_shift_ins c.1294_1295 p.A435fs 1.000:1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF2 HGNC ENSG00000198911 120 0 0 60 7 10.4478 SENP7 0 genome.wustl.edu 37 3 101070484 101070484 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 101070484 101070484 T - DEL SENP7 ENST00000394095 human ensembl 74_37 -1 known frame_shift_del c.1635 p.K545fs 0.977 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP7 HGNC ENSG00000138468 31 0 0 11 10 47.619 MORC1 0 genome.wustl.edu 37 3 108751611 108751611 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 108751611 108751611 A - DEL MORC1 ENST00000232603 human ensembl 74_37 -1 known frame_shift_del c.1521 p.F507fs 0.034 pfam_Znf_CW,pfscan_Znf_CW pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 82 0 0 44 10 18.5185 NPHP3 0 genome.wustl.edu 37 3 132438596 132438597 + Frame_Shift_Del DEL CT CT - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 132438596 132438597 CT - DEL NPHP3 ENST00000337331 human ensembl 74_37 -1 known frame_shift_del c.472_471 p.R157fs 1.000:1.000 NULL 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 73 0 0 60 14 18.9189 SLC35G2 0 genome.wustl.edu 37 3 136573858 136573858 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 136573858 136573858 T - DEL SLC35G2 ENST00000393079 human ensembl 74_37 +1 known frame_shift_del c.556 p.S187fs 1.000 pfam_DMT pfam_DMT - no_errors SLC35G2 HGNC ENSG00000168917 108 0 0 79 9 10.2273 XRN1 0 genome.wustl.edu 37 3 142051906 142051906 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 142051906 142051906 A - DEL XRN1 ENST00000264951 human ensembl 74_37 -1 known frame_shift_del c.3965 p.L1322fs 1.000 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC ENSG00000114127 42 0 0 39 11 22 SMC4 0 genome.wustl.edu 37 3 160143940 160143940 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 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 296 0 0 249 34 12.0141 TNFSF10 0 genome.wustl.edu 37 3 172224303 172224303 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 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 51 0 0 56 7 11.1111 FXR1 0 genome.wustl.edu 37 3 180666228 180666228 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 180666228 180666228 A - DEL FXR1 ENST00000357559 human ensembl 74_37 +1 known frame_shift_del c.364 p.N124fs 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 69 0 0 38 10 20.8333 B3GNT5 0 genome.wustl.edu 37 3 182988627 182988627 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 182988627 182988627 T - DEL B3GNT5 ENST00000326505 human ensembl 74_37 +1 known frame_shift_del c.1041 p.F349fs 0.021 NULL pfam_Glyco_trans_31,superfamily_Luciferase-like_dom - no_errors B3GNT5 HGNC ENSG00000176597 61 0 0 44 8 15.3846 THRB 0 genome.wustl.edu 37 3 24206519 24206519 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 24206519 24206519 T - DEL THRB ENST00000280696 human ensembl 74_37 -1 putative frame_shift_del c.327 p.Y111fs 1.000 prints_ThyrH_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_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRB HGNC ENSG00000151090 49 0 0 31 6 16.2162 CLASP2 0 genome.wustl.edu 37 3 33602361 33602361 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 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 134 0 0 83 14 14.433 POMGNT2 0 genome.wustl.edu 37 3 43121686 43121686 + Frame_Shift_Del DEL C C - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 43121686 43121686 C - DEL POMGNT2 ENST00000344697 human ensembl 74_37 -1 known frame_shift_del c.1238 p.G413fs 1.000 NULL pfam_Glycosyltransferase_AER61,superfamily_Fibronectin_type3 - no_errors POMGNT2 HGNC ENSG00000144647 39 0 0 36 10 21.7391 CCR2 0 genome.wustl.edu 37 3 46399085 46399085 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 46399085 46399085 T - DEL CCR2 ENST00000292301 human ensembl 74_37 +1 known frame_shift_del c.67 p.F24fs 0.000 prints_Chemokine_CCR2 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR2 - no_errors CCR2 HGNC ENSG00000121807 149 0 0 135 16 10.596 MAPKAPK3 0 genome.wustl.edu 37 3 50655080 50655080 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 50655080 50655080 G - DEL MAPKAPK3 ENST00000357955 human ensembl 74_37 +1 known frame_shift_del c.84 p.R31fs 0.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAPKAPK3 HGNC ENSG00000114738 42 0 0 34 7 17.0732 NEK4 0 genome.wustl.edu 37 3 52797501 52797501 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 52797501 52797501 A - DEL NEK4 ENST00000233027 human ensembl 74_37 -1 known frame_shift_del c.806 p.L269fs 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK4 HGNC ENSG00000114904 374 0 0 265 42 13.6808 DNAH12 0 genome.wustl.edu 37 3 57509313 57509313 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 57509313 57509313 T - DEL DNAH12 ENST00000351747 human ensembl 74_37 -1 known frame_shift_del c.276 p.G93fs 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH12 HGNC ENSG00000174844 25 0 0 19 12 38.7097 PROK2 0 genome.wustl.edu 37 3 71821968 71821968 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 3 71821968 71821968 A - DEL PROK2 ENST00000295619 human ensembl 74_37 -1 known frame_shift_del c.297 p.F99fs 0.619 pfam_Prokineticin_domain pfam_Prokineticin_domain - no_errors PROK2 HGNC ENSG00000163421 59 0 0 41 4 8.88889 ROBO2 0 genome.wustl.edu 37 3 77684125 77684125 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 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 75 0 0 65 6 8.4507 QRFPR 0 genome.wustl.edu 37 4 122250739 122250740 + Frame_Shift_Ins INS - - T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 122250739 122250740 - T INS QRFPR ENST00000394427 human ensembl 74_37 -1 known frame_shift_ins c.1026_1025 p.N342fs 0.990:1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_NPY_rcpt,prints_NPFF_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 66 0 0 33 6 15.3846 MFSD8 0 genome.wustl.edu 37 4 128861148 128861148 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 128861148 128861148 A - DEL MFSD8 ENST00000296468 human ensembl 74_37 -1 known frame_shift_del c.558 p.Q187fs 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD8 HGNC ENSG00000164073 65 0 0 26 10 27.7778 FHDC1 0 genome.wustl.edu 37 4 153864507 153864507 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 153864507 153864507 T - DEL FHDC1 ENST00000260008 human ensembl 74_37 +1 known frame_shift_del c.298 p.W102fs 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,smart_FH2_Formin - no_errors FHDC1 HGNC ENSG00000137460 230 0 0 140 35 20 IRF2 0 genome.wustl.edu 37 4 185329341 185329341 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 185329341 185329341 T - DEL IRF2 ENST00000393593 human ensembl 74_37 -1 known frame_shift_del c.500 p.N167fs 0.996 pirsf_Interferon_reg_fac-1/2 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 78 0 0 40 10 20 RGS12 0 genome.wustl.edu 37 4 3319285 3319285 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 3319285 3319285 G - DEL RGS12 ENST00000344733 human ensembl 74_37 +1 known frame_shift_del c.1388 p.G464fs 0.351 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 24 0 0 20 5 20 RGS12 0 genome.wustl.edu 37 4 3432431 3432431 + Frame_Shift_Del DEL C C - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 3432431 3432431 C - DEL RGS12 ENST00000344733 human ensembl 74_37 +1 known frame_shift_del c.3863 p.1292fs 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 10 0 0 7 2 22.2222 N4BP2 0 genome.wustl.edu 37 4 40122061 40122061 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 40122061 40122061 A - DEL N4BP2 ENST00000261435 human ensembl 74_37 +1 known frame_shift_del c.2330 p.K778fs 0.992 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 97 0 0 43 8 15.6863 ATP8A1 0 genome.wustl.edu 37 4 42445639 42445639 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 42445639 42445639 A - DEL ATP8A1 ENST00000381668 human ensembl 74_37 -1 known frame_shift_del c.3066 p.F1022fs 0.991 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A1 HGNC ENSG00000124406 63 0 0 41 7 14.5833 OCIAD1 0 genome.wustl.edu 37 4 48859372 48859372 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 4 48859372 48859372 A - DEL OCIAD1 ENST00000264312 human ensembl 74_37 +1 known frame_shift_del c.690 p.E233fs 0.300 NULL pfam_OCIA - no_errors OCIAD1 HGNC ENSG00000109180 88 0 0 48 15 23.8095 RAD50 0 genome.wustl.edu 37 5 131944382 131944382 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 131944382 131944382 A - DEL RAD50 ENST00000265335 human ensembl 74_37 +1 known frame_shift_del c.2794 p.N934fs 1.000 superfamily_P-loop_NTPase,tigrfam_Rad50_eukaryotes pfam_Rad50_Zn_hook,superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes - no_errors RAD50 HGNC ENSG00000113522 15 0 0 14 5 26.3158 IPO11 0 genome.wustl.edu 37 5 61770244 61770245 + Frame_Shift_Ins INS - - T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 61770244 61770245 - T INS IPO11 ENST00000409296 human ensembl 74_37 +1 known frame_shift_ins c.830_831 p.L279fs 1.000:1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO11 HGNC ENSG00000086200 42 0 0 39 10 20.4082 AGGF1 0 genome.wustl.edu 37 5 76358967 76358967 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 76358967 76358967 A - DEL AGGF1 ENST00000312916 human ensembl 74_37 +1 known frame_shift_del c.2035 p.N681fs 1.000 NULL pfam_FHA_dom,pfam_G_patch_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_G_patch_dom,pfscan_FHA_dom,pfscan_G_patch_dom - no_errors AGGF1 HGNC ENSG00000164252 264 0 0 157 34 17.801 THBS4 0 genome.wustl.edu 37 5 79372814 79372814 + Frame_Shift_Del DEL C C - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 79372814 79372814 C - DEL THBS4 ENST00000350881 human ensembl 74_37 +1 known frame_shift_del c.2029 p.P678fs 0.999 NULL 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 201 0 0 112 29 20.5674 BRD9 0 genome.wustl.edu 37 5 889776 889777 + Frame_Shift_Ins INS - - A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 889776 889777 - A INS BRD9 ENST00000323510 human ensembl 74_37 -1 known frame_shift_ins c.39_38 p.L14fs 0.000:0.002 NULL pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD9 HGNC ENSG00000028310 72 0 0 26 8 23.5294 CHD1 0 genome.wustl.edu 37 5 98236745 98236745 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 5 98236745 98236745 T - DEL CHD1 ENST00000284049 human ensembl 74_37 -1 known frame_shift_del c.629 p.K210fs 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 54 0 0 30 8 21.0526 GCNT2 0 genome.wustl.edu 37 6 10557410 10557410 + Frame_Shift_Del DEL C C - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 10557410 10557410 C - DEL GCNT2 ENST00000316170 human ensembl 74_37 +1 known frame_shift_del c.754 p.H254fs 1.000 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT2 HGNC ENSG00000111846 117 0 0 65 8 10.9589 ARHGAP18 0 genome.wustl.edu 37 6 129959603 129959603 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 129959603 129959603 T - DEL ARHGAP18 ENST00000368149 human ensembl 74_37 -1 known frame_shift_del c.488 p.N163fs 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP18 HGNC ENSG00000146376 157 0 0 137 13 8.66667 DTNBP1 0 genome.wustl.edu 37 6 15524787 15524789 + In_Frame_Del DEL CTC CTC - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 15524787 15524789 CTC - DEL DTNBP1 ENST00000355917 human ensembl 74_37 -1 known in_frame_del c.784_782 p.G261in_frame_del 1.000:0.840:0.887 pfam_Dysbindin pfam_Dysbindin,superfamily_Trp_syn_b_sub_like_PLP_eny_SF - no_errors DTNBP1 HGNC ENSG00000047579 104 0 0 52 9 14.7541 DYNLT1 0 genome.wustl.edu 37 6 159062373 159062375 + In_Frame_Del DEL TCA TCA - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 TCA TCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 159062373 159062375 TCA - DEL DYNLT1 ENST00000367089 human ensembl 74_37 -1 known in_frame_del c.47_45 p.D15in_frame_del 1.000:0.998:1.000 pfam_Tctex pfam_Tctex - no_errors DYNLT1 HGNC ENSG00000146425 85 0 0 37 12 24.4898 PLG 0 genome.wustl.edu 37 6 161157984 161157984 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 161157984 161157984 G - DEL PLG ENST00000308192 human ensembl 74_37 +1 known frame_shift_del c.1747 p.C585fs 0.999 pirsf_Pept_S1A_plasmin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 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 47 0 0 41 6 12.766 MBOAT1 0 genome.wustl.edu 37 6 20144533 20144534 + Frame_Shift_Ins INS - - A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 20144533 20144534 - A INS MBOAT1 ENST00000324607 human ensembl 74_37 -1 known frame_shift_ins c.337_336 p.V112fs 1.000:0.997 NULL pfam_MBOAT_fam - no_errors MBOAT1 HGNC ENSG00000172197 96 0 0 85 10 10.5263 HLA-A 0 genome.wustl.edu 37 6 29911900 29911900 + Frame_Shift_Del DEL C C - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 29911900 29911900 C - DEL HLA-A ENST00000376806 human ensembl 74_37 +1 known frame_shift_del c.621 p.K210fs 0.000 pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-A HGNC ENSG00000206503 135 0 0 106 20 15.873 PPP1R10 0 genome.wustl.edu 37 6 30569341 30569341 + Frame_Shift_Del DEL C C - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 30569341 30569341 C - DEL PPP1R10 ENST00000376511 human ensembl 74_37 -1 known frame_shift_del c.2808 p.L939fs 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 28 0 0 26 5 16.129 RXRB 0 genome.wustl.edu 37 6 33164323 33164323 + Frame_Shift_Del DEL C C - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 33164323 33164323 C - DEL RXRB ENST00000374680 human ensembl 74_37 -1 known frame_shift_del c.881 p.G294fs 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_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors RXRB HGNC ENSG00000204231 43 0 0 41 8 16.3265 SLC26A8 0 genome.wustl.edu 37 6 35912065 35912065 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 35912065 35912065 T - DEL SLC26A8 ENST00000355574 human ensembl 74_37 -1 known frame_shift_del c.2525 p.N842fs 0.000 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A8 HGNC ENSG00000112053 44 0 0 46 10 17.8571 PRPF4B 0 genome.wustl.edu 37 6 4031881 4031881 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 4031881 4031881 A - DEL PRPF4B ENST00000337659 human ensembl 74_37 +1 known frame_shift_del c.130 p.K46fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRPF4B HGNC ENSG00000112739 55 0 0 42 8 16 OGFRL1 0 genome.wustl.edu 37 6 72011426 72011426 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 72011426 72011426 A - DEL OGFRL1 ENST00000370435 human ensembl 74_37 +1 known frame_shift_del c.1030 p.A346fs 1.000 NULL pfam_OGF_rcpt - no_errors OGFRL1 HGNC ENSG00000119900 121 0 0 78 7 8.23529 CYB5R4 0 genome.wustl.edu 37 6 84634231 84634231 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 84634231 84634231 A - DEL CYB5R4 ENST00000369681 human ensembl 74_37 +1 known frame_shift_del c.734 p.E248fs 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 68 0 0 39 8 17.0213 MDN1 0 genome.wustl.edu 37 6 90432675 90432675 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 6 90432675 90432675 T - DEL MDN1 ENST00000369393 human ensembl 74_37 -1 known frame_shift_del c.5966 p.K1989fs 1.000 superfamily_P-loop_NTPase,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 206 0 0 167 26 13.4715 AGFG2 0 genome.wustl.edu 37 7 100148122 100148124 + In_Frame_Del DEL AGA AGA - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 100148122 100148124 AGA - DEL AGFG2 ENST00000300176 human ensembl 74_37 +1 known in_frame_del c.419_421 p.K142in_frame_del 1.000:1.000:1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors AGFG2 HGNC ENSG00000106351 67 0 0 55 9 14.0625 WASL 0 genome.wustl.edu 37 7 123334810 123334811 + Frame_Shift_Ins INS - - T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 123334810 123334811 - T INS WASL ENST00000223023 human ensembl 74_37 -1 known frame_shift_ins c.785_784 p.T262fs 1.000:1.000 superfamily_WASP_C pfam_WH1/EVH1,pfam_CRIB_dom,pfam_WH2_dom,superfamily_WASP_C,smart_WH1/EVH1,smart_CRIB_dom,smart_WH2_dom,pfscan_CRIB_dom,pfscan_WH1/EVH1,pfscan_WH2_dom - no_errors WASL HGNC ENSG00000106299 157 0 0 99 21 17.5 FLNC 0 genome.wustl.edu 37 7 128478816 128478816 + Frame_Shift_Del DEL C C - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 128478816 128478816 C - DEL FLNC ENST00000325888 human ensembl 74_37 +1 known frame_shift_del c.1370 p.I459fs 0.933 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 55 0 0 47 10 17.5439 CPA4 0 genome.wustl.edu 37 7 129933076 129933076 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 129933076 129933076 A - DEL CPA4 ENST00000222482 human ensembl 74_37 +1 known frame_shift_del c.56 p.K20fs 0.890 superfamily_Prot_inh_propept pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA4 HGNC ENSG00000128510 73 0 0 73 9 10.9756 EPHB6 0 genome.wustl.edu 37 7 142562308 142562309 + Frame_Shift_Ins INS - - G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 142562308 142562309 - G INS EPHB6 ENST00000392957 human ensembl 74_37 +1 known frame_shift_ins c.750_751 p.A252fs 0.423:0.992 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 37 0 0 37 5 11.9048 NOS3 0 genome.wustl.edu 37 7 150698398 150698398 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 150698398 150698398 G - DEL NOS3 ENST00000297494 human ensembl 74_37 +1 known frame_shift_del c.1313 p.G440fs 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC ENSG00000164867 34 0 0 53 7 11.6667 DNAH11 0 genome.wustl.edu 37 7 21631141 21631141 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 21631141 21631141 A - DEL DNAH11 ENST00000328843 human ensembl 74_37 +1 known frame_shift_del c.2613 p.K873fs 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 DNAH11 HGNC ENSG00000105877 77 0 0 61 8 11.5942 MPP6 0 genome.wustl.edu 37 7 24705666 24705666 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 24705666 24705666 A - DEL MPP6 ENST00000222644 human ensembl 74_37 +1 known frame_shift_del c.910 p.K306fs 1.000 superfamily_SH3_domain pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP6 HGNC ENSG00000105926 159 0 0 96 17 15.0442 JAZF1 0 genome.wustl.edu 37 7 27872467 27872470 + Frame_Shift_Del DEL ATTG ATTG - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 ATTG ATTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 27872467 27872470 ATTG - DEL JAZF1 ENST00000283928 human ensembl 74_37 -1 known frame_shift_del c.684_681 p.N228fs 0.999:1.000:1.000:1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like - no_errors JAZF1 HGNC ENSG00000153814 103 0 0 68 8 10.5263 ZNF716 0 genome.wustl.edu 37 7 57528542 57528542 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 57528542 57528542 A - DEL ZNF716 ENST00000420713 human ensembl 74_37 +1 known frame_shift_del c.375 p.K127fs 0.128 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 ZNF716 HGNC ENSG00000182111 78 0 0 46 8 14.8148 DTX2 0 genome.wustl.edu 37 7 76112249 76112249 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 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 178 0 0 142 11 7.18954 TMEM60 0 genome.wustl.edu 37 7 77423460 77423460 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 77423460 77423460 T - DEL TMEM60 ENST00000257663 human ensembl 74_37 -1 known frame_shift_del c.231 p.A78fs 0.998 NULL pfam_TM_Fragile-X-F-assoc - no_errors TMEM60 HGNC ENSG00000135211 121 0 0 87 19 17.9245 ZKSCAN5 0 genome.wustl.edu 37 7 99129417 99129418 + Frame_Shift_Ins INS - - A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 7 99129417 99129418 - A INS ZKSCAN5 ENST00000326775 human ensembl 74_37 +1 known frame_shift_ins c.2065_2066 p.N691fs 0.016:0.005 NULL 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 ZKSCAN5 HGNC ENSG00000196652 144 0 0 102 14 12.069 UBR5 0 genome.wustl.edu 37 8 103289349 103289349 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 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 89 0 0 81 29 26.3636 RP1L1 0 genome.wustl.edu 37 8 10467122 10467123 + Frame_Shift_Ins INS - - G TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 10467122 10467123 - G INS RP1L1 ENST00000382483 human ensembl 74_37 -1 known frame_shift_ins c.4486_4485 p.T1495fs 0.000:0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 41 0 0 43 8 15.6863 RIMS2 0 genome.wustl.edu 37 8 104898242 104898242 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 104898242 104898242 A - DEL RIMS2 ENST00000406091 human ensembl 74_37 +1 known frame_shift_del c.1415 p.M474fs 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 RIMS2 HGNC ENSG00000176406 70 0 0 78 25 24.2718 MYC 0 genome.wustl.edu 37 8 128753073 128753073 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 128753073 128753073 A - DEL MYC ENST00000377970 human ensembl 74_37 +1 known frame_shift_del c.1234 p.A414fs 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc pfam_Tscrpt_reg_Myc_N,pfam_Myc-LZ,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc - no_errors MYC HGNC ENSG00000136997 191 0 0 239 33 12.1324 KCNQ3 0 genome.wustl.edu 37 8 133141659 133141659 + Frame_Shift_Del DEL C C - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 133141659 133141659 C - DEL KCNQ3 ENST00000388996 human ensembl 74_37 -1 known frame_shift_del c.2469 p.S824fs 0.000 pfam_Ankyrin-G_BS pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 44 0 0 31 9 22.5 MYOM2 0 genome.wustl.edu 37 8 2088683 2088683 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 2088683 2088683 G - DEL MYOM2 ENST00000262113 human ensembl 74_37 +1 known frame_shift_del c.3838 p.S1282fs 1.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 70 0 0 79 17 17.7083 SCARA5 0 genome.wustl.edu 37 8 27729504 27729504 + Frame_Shift_Del DEL C C - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 27729504 27729504 C - DEL SCARA5 ENST00000354914 human ensembl 74_37 -1 known frame_shift_del c.1435 p.V479fs 1.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,pfam_Collagen,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors SCARA5 HGNC ENSG00000168079 86 0 0 108 6 5.26316 CHRNB3 0 genome.wustl.edu 37 8 42587571 42587571 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 42587571 42587571 A - DEL CHRNB3 ENST00000289957 human ensembl 74_37 +1 known frame_shift_del c.1121 p.K376fs 0.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB3 HGNC ENSG00000147432 48 0 0 39 9 18.75 THAP1 0 genome.wustl.edu 37 8 42694398 42694399 + Frame_Shift_Del DEL CT CT - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 42694398 42694399 CT - DEL THAP1 ENST00000254250 human ensembl 74_37 -1 known frame_shift_del c.198_197 p.E66fs 1.000:1.000 pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP1 HGNC ENSG00000131931 129 0 0 129 20 13.4228 ANGPT2 0 genome.wustl.edu 37 8 6378797 6378798 + Frame_Shift_Ins INS - - T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 6378797 6378798 - T INS ANGPT2 ENST00000325203 human ensembl 74_37 -1 known frame_shift_ins c.701_700 p.I234fs 0.159:0.004 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 56 0 0 98 10 9.25926 MTFR1 0 genome.wustl.edu 37 8 66620234 66620237 + Frame_Shift_Del DEL AGAG AGAG - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 AGAG AGAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 66620234 66620237 AGAG - DEL MTFR1 ENST00000262146 human ensembl 74_37 +1 known frame_shift_del c.921_924 p.R309fs 0.994:0.993:0.944:0.308 NULL pfam_Mtfr1 - no_errors MTFR1 HGNC ENSG00000066855 159 0 0 138 11 7.38255 SULF1 0 genome.wustl.edu 37 8 70488249 70488249 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 8 70488249 70488249 G - DEL SULF1 ENST00000260128 human ensembl 74_37 +1 known frame_shift_del c.217 p.A75fs 0.999 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 45 0 0 34 8 19.0476 C9orf152 0 genome.wustl.edu 37 9 112963554 112963554 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 112963554 112963554 G - DEL C9orf152 ENST00000400613 human ensembl 74_37 -1 known frame_shift_del c.394 p.Q132fs 0.993 NULL NULL - no_errors C9orf152 HGNC ENSG00000188959 155 0 0 106 23 17.8295 COL27A1 0 genome.wustl.edu 37 9 117008145 117008145 + Splice_Site DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 117008145 117008145 G - DEL COL27A1 ENST00000356083 human ensembl 74_37 +1 known splice_site_del c.2935-1 e24-1 1.000 - - - no_errors COL27A1 HGNC ENSG00000196739 52 0 0 25 8 24.2424 PDCL 0 genome.wustl.edu 37 9 125582805 125582805 + Frame_Shift_Del DEL C C - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 125582805 125582805 C - DEL PDCL ENST00000259467 human ensembl 74_37 -1 known frame_shift_del c.465 p.Q157fs 0.974 pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,prints_Phosducin - no_errors PDCL HGNC ENSG00000136940 98 0 0 55 7 11.2903 TTC16 0 genome.wustl.edu 37 9 130491862 130491863 + Frame_Shift_Ins INS - - A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 130491862 130491863 - A INS TTC16 ENST00000373289 human ensembl 74_37 +1 known frame_shift_ins c.1767_1768 p.S591fs 0.701:0.167 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC16 HGNC ENSG00000167094 49 0 0 37 10 21.2766 CERCAM 0 genome.wustl.edu 37 9 131186544 131186544 + Frame_Shift_Del DEL C C - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 131186544 131186544 C - DEL CERCAM ENST00000372838 human ensembl 74_37 +1 known frame_shift_del c.554 p.Q187fs 1.000 NULL pfam_Glyco_trans_25 - no_errors CERCAM HGNC ENSG00000167123 82 0 0 55 13 19.1176 TTF1 0 genome.wustl.edu 37 9 135277388 135277388 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 135277388 135277388 T - DEL TTF1 ENST00000334270 human ensembl 74_37 -1 known frame_shift_del c.821 p.K274fs 0.001 NULL superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC ENSG00000125482 106 0 0 50 12 19.3548 SLC2A6 0 genome.wustl.edu 37 9 136343522 136343522 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 136343522 136343522 T - DEL SLC2A6 ENST00000371899 human ensembl 74_37 -1 known frame_shift_del c.109 p.R37fs 0.998 superfamily_MFS_dom_general_subst_transpt,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A6 HGNC ENSG00000160326 145 0 0 74 18 19.5652 TUBB4B 0 genome.wustl.edu 37 9 140137117 140137119 + In_Frame_Del DEL CCT CCT - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 140137117 140137119 CCT - DEL TUBB4B ENST00000340384 human ensembl 74_37 +1 known in_frame_del c.447_449 p.L151in_frame_del 0.999:1.000:1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_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 TUBB4B HGNC ENSG00000188229 83 0 0 49 12 19.6721 PTPLAD2 0 genome.wustl.edu 37 9 21007045 21007046 + Frame_Shift_Ins INS - - T TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 21007045 21007046 - T INS PTPLAD2 ENST00000495827 human ensembl 74_37 -1 known frame_shift_ins c.690_689 p.K231fs 1.000:1.000 NULL pfam_Tyr_Pase-like_PTPLA - no_errors PTPLAD2 HGNC ENSG00000188921 70 0 0 34 9 20.9302 FAM214B 0 genome.wustl.edu 37 9 35107832 35107832 + Frame_Shift_Del DEL G G - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 35107832 35107832 G - DEL FAM214B ENST00000322813 human ensembl 74_37 -1 known frame_shift_del c.440 p.P147fs 0.925 NULL NULL - no_errors FAM214B HGNC ENSG00000005238 48 0 0 26 7 21.2121 JAK2 0 genome.wustl.edu 37 9 5050791 5050792 + Frame_Shift_Ins INS - - A TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 5050791 5050792 - A INS JAK2 ENST00000381652 human ensembl 74_37 +1 known frame_shift_ins c.574_575 p.N193fs 1.000:1.000 superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK2 HGNC ENSG00000096968 61 0 0 45 10 18.1818 JAK2 0 genome.wustl.edu 37 9 5066768 5066768 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 5066768 5066768 T - DEL JAK2 ENST00000381652 human ensembl 74_37 +1 known frame_shift_del c.1305 p.L437fs 0.995 pfam_SH2,smart_SH2,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_SH2,prints_Tyr_kinase_non-rcpt_Jak2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK2 HGNC ENSG00000096968 33 0 0 18 6 25 RANBP6 0 genome.wustl.edu 37 9 6012690 6012690 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 6012690 6012690 T - DEL RANBP6 ENST00000259569 human ensembl 74_37 -1 known frame_shift_del c.2918 p.N973fs 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 80 0 0 43 12 21.8182 ERCC6L2 0 genome.wustl.edu 37 9 98774880 98774880 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 9 98774880 98774880 T - DEL ERCC6L2 ENST00000407474 human ensembl 74_37 +1 known frame_shift_del c.991 p.F332fs 0.000 NULL NULL - no_errors ERCC6L2 HGNC ENSG00000182150 77 0 0 39 15 27.7778 IRS4 0 genome.wustl.edu 37 X 107977803 107977803 + Frame_Shift_Del DEL C C - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 X 107977803 107977803 C - DEL IRS4 ENST00000372129 human ensembl 74_37 -1 known frame_shift_del c.1772 p.G591fs 0.016 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 260 0 0 97 29 23.0159 USP26 0 genome.wustl.edu 37 X 132160413 132160413 + Frame_Shift_Del DEL T T - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 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 51 0 0 26 10 27.7778 KDM6A 0 genome.wustl.edu 37 X 44941988 44941988 + Frame_Shift_Del DEL A A - TCGA-BR-4257-01A-01D-1126-08 TCGA-BR-4257-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 936def52-8689-403a-97f4-3dda9f05feb1 7b9f4212-c55d-40c5-9fa9-c8b2713cf775 X 44941988 44941988 A - DEL KDM6A ENST00000382899 human ensembl 74_37 +1 known frame_shift_del c.3259 p.T1088fs 1.000 NULL pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC ENSG00000147050 60 0 0 26 6 18.75