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 CELSR2 0 genome.wustl.edu 37 1 109810549 109810549 + Missense_Mutation SNP C C T TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 1 109810549 109810549 C T SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.6185 p.A2062V 1.000 pfam_DUF3497 pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 32 0 0 25 2 7.40741 SPTA1 0 genome.wustl.edu 37 1 158606544 158606544 + Missense_Mutation SNP A A C TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 1 158606544 158606544 A C SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.5197 p.L1733V 0.966 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 50 0 0 47 8 14.5455 FCRLA 0 genome.wustl.edu 37 1 161682978 161682978 + Silent SNP G G A TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 1 161682978 161682978 G A SNP FCRLA ENST00000367959 human ensembl 74_37 +1 known silent c.957 p.P319 0.000 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCRLA HGNC ENSG00000132185 58 0 0 43 8 15.6863 OR2L8 0 genome.wustl.edu 37 1 248112415 248112415 + Missense_Mutation SNP C C A TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 1 248112415 248112415 C A SNP OR2L8 ENST00000357191 human ensembl 74_37 +1 known missense c.256 p.H86N 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 OR2L8 HGNC ENSG00000196936 134 0 0 96 14 12.7273 RNF19B 0 genome.wustl.edu 37 1 33402454 33402454 + Missense_Mutation SNP C C T TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 1 33402454 33402454 C T SNP RNF19B ENST00000373456 human ensembl 74_37 -1 known missense c.2152 p.E718K 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19B HGNC ENSG00000116514 72 0 0 60 7 10.4478 RET 0 genome.wustl.edu 37 10 43612057 43612057 + Missense_Mutation SNP G G A TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 10 43612057 43612057 G A SNP RET ENST00000355710 human ensembl 74_37 +1 known missense c.2162 p.R721Q 1.000 pirsf_Tyr_kinase_Ret_rcpt,superfamily_Kinase-like_dom pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 115 0 0 90 11 10.8911 MYPN 0 genome.wustl.edu 37 10 69881984 69881984 + Silent SNP A A G TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 10 69881984 69881984 A G SNP MYPN ENST00000358913 human ensembl 74_37 +1 known silent c.789 p.E263 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MYPN HGNC ENSG00000138347 35 0 0 30 2 6.25 DLG5 0 genome.wustl.edu 37 10 79581291 79581291 + Missense_Mutation SNP G G A TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 10 79581291 79581291 G A SNP DLG5 ENST00000372391 human ensembl 74_37 -1 known missense c.2951 p.T984I 0.996 NULL pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG5 HGNC ENSG00000151208 81 0 0 50 4 7.40741 NRG3 0 genome.wustl.edu 37 10 84498378 84498378 + Silent SNP G G A TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 10 84498378 84498378 G A SNP NRG3 ENST00000404547 human ensembl 74_37 +1 known silent c.999 p.P333 1.000 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 28 0 0 24 6 20 GRID1 0 genome.wustl.edu 37 10 87487712 87487712 + Missense_Mutation SNP A A G TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 10 87487712 87487712 A G SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known missense c.1433 p.L478P 1.000 pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 109 0 0 86 10 10.4167 PGR 0 genome.wustl.edu 37 11 100922231 100922231 + Missense_Mutation SNP A A T TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 11 100922231 100922231 A T SNP PGR ENST00000325455 human ensembl 74_37 -1 known missense c.2281 p.F761I 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Progest_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_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors PGR HGNC ENSG00000082175 22 0 0 24 5 17.2414 KRTAP5-2 0 genome.wustl.edu 37 11 1619306 1619306 + Missense_Mutation SNP G G A TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 11 1619306 1619306 G A SNP KRTAP5-2 ENST00000412090 human ensembl 74_37 -1 known missense c.175 p.P59S 0.004 NULL NULL - no_errors KRTAP5-2 HGNC ENSG00000205867 127 1 0.78125 105 7 6.25 OR52J3 0 genome.wustl.edu 37 11 5068425 5068425 + Missense_Mutation SNP C C T TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 11 5068425 5068425 C T SNP OR52J3 ENST00000380370 human ensembl 74_37 +1 known missense c.670 p.R224C 0.038 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 OR52J3 HGNC ENSG00000205495 89 0 0 70 7 9.09091 HBG2 0 genome.wustl.edu 37 11 5275655 5275655 + Missense_Mutation SNP A A G TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 11 5275655 5275655 A G SNP HBG2 ENST00000336906 human ensembl 74_37 -1 known missense c.182 p.V61A 0.002 pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin - no_errors HBG2 HGNC ENSG00000196565 86 0 0 65 9 12.1622 SBF2 0 genome.wustl.edu 37 11 9985418 9985418 + Missense_Mutation SNP C C A TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 11 9985418 9985418 C A SNP SBF2 ENST00000256190 human ensembl 74_37 -1 known missense c.1612 p.D538Y 1.000 pfam_SBF2 pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF2 HGNC ENSG00000133812 8 0 0 6 2 25 NANOG 0 genome.wustl.edu 37 12 7947571 7947571 + Silent SNP C C T TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 12 7947571 7947571 C T SNP NANOG ENST00000229307 human ensembl 74_37 +1 known silent c.798 p.A266 0.038 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors NANOG HGNC ENSG00000111704 12 0 0 4 4 50 GOLGA8EP 0 genome.wustl.edu 37 15 23445438 23445438 + RNA SNP T T G TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 15 23445438 23445438 T G SNP GOLGA8EP ENST00000526079 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors GOLGA8EP HGNC ENSG00000175676 59 0 0 31 3 8.82353 HEATR6 0 genome.wustl.edu 37 17 58143622 58143622 + Missense_Mutation SNP C C A TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 17 58143622 58143622 C A SNP HEATR6 ENST00000184956 human ensembl 74_37 -1 known missense c.1364 p.S455I 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR6 HGNC ENSG00000068097 28 0 0 23 2 8 TP53 0 genome.wustl.edu 37 17 7578457 7578457 + Missense_Mutation SNP C C T TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 17 7578457 7578457 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.473 p.R158H 0.989 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 35 0 0 37 4 9.7561 ATP1A3 0 genome.wustl.edu 37 19 42490135 42490135 + Missense_Mutation SNP G G A TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 19 42490135 42490135 G A SNP ATP1A3 ENST00000302102 human ensembl 74_37 -1 known missense c.487 p.R163W 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A3 HGNC ENSG00000105409 75 0 0 68 10 12.8205 PSG3 0 genome.wustl.edu 37 19 43234208 43234208 + Missense_Mutation SNP G G A TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 19 43234208 43234208 G A SNP PSG3 ENST00000327495 human ensembl 74_37 -1 known missense c.710 p.P237L 0.033 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG3 HGNC ENSG00000221826 104 0 0 69 5 6.75676 LILRB3 0 genome.wustl.edu 37 19 54725992 54725992 + Silent SNP G G A TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 19 54725992 54725992 G A SNP LILRB3 ENST00000407860 human ensembl 74_37 -1 known silent c.366 p.S122 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB3 HGNC ENSG00000204577 40 0 0 30 6 16.6667 LILRB3 0 genome.wustl.edu 37 19 54746380 54746380 + Missense_Mutation SNP C C T TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 19 54746380 54746380 C T SNP LILRB3 ENST00000407860 human ensembl 74_37 -1 known missense c.61 p.V21M 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB3 HGNC ENSG00000204577 10 0 0 6 7 53.8462 ZSCAN5A 0 genome.wustl.edu 37 19 56735076 56735076 + Missense_Mutation SNP T T A TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 19 56735076 56735076 T A SNP ZSCAN5A ENST00000391713 human ensembl 74_37 -1 known missense c.512 p.Q171L 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5A HGNC ENSG00000131848 48 0 0 30 2 6.25 UXS1 0 genome.wustl.edu 37 2 106761763 106761763 + Missense_Mutation SNP C C T TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 2 106761763 106761763 C T SNP UXS1 ENST00000283148 human ensembl 74_37 -1 known missense c.355 p.E119K 1.000 pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_3Beta_OHSteriod_DH/Estase pfam_Epimerase_deHydtase,pfam_UXS1_N,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_3Beta_OHSteriod_DH/Estase - no_errors UXS1 HGNC ENSG00000115652 19 0 0 19 2 9.52381 C20orf26 0 genome.wustl.edu 37 20 20257982 20257982 + Silent SNP C C T TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 20 20257982 20257982 C T SNP C20orf26 ENST00000245957 human ensembl 74_37 +1 known silent c.2676 p.A892 0.000 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 59 0 0 32 11 25.5814 RFPL2 0 genome.wustl.edu 37 22 32589217 32589217 + Silent SNP A A G TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 22 32589217 32589217 A G SNP RFPL2 ENST00000248980 human ensembl 74_37 -1 known silent c.45 p.H15 0.009 NULL pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors RFPL2 HGNC ENSG00000128253 56 0 0 42 4 8.69565 ACTR8 0 genome.wustl.edu 37 3 53902763 53902763 + Missense_Mutation SNP C C T TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 3 53902763 53902763 C T SNP ACTR8 ENST00000335754 human ensembl 74_37 -1 known missense c.1858 p.A620T 1.000 smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR8 HGNC ENSG00000113812 41 0 0 25 2 7.40741 RXFP1 0 genome.wustl.edu 37 4 159493865 159493865 + Missense_Mutation SNP G G T TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 4 159493865 159493865 G T SNP RXFP1 ENST00000307765 human ensembl 74_37 +1 known missense c.65 p.G22V 0.005 NULL 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 RXFP1 HGNC ENSG00000171509 67 0 0 52 8 13.3333 GK2 0 genome.wustl.edu 37 4 80328138 80328138 + Missense_Mutation SNP T T C TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 4 80328138 80328138 T C SNP GK2 ENST00000358842 human ensembl 74_37 -1 known missense c.1217 p.E406G 1.000 pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin - no_errors GK2 HGNC ENSG00000196475 58 0 0 38 3 7.31707 C4orf22 0 genome.wustl.edu 37 4 81284019 81284019 + Missense_Mutation SNP G G T TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 4 81284019 81284019 G T SNP C4orf22 ENST00000508675 human ensembl 74_37 +1 known missense c.223 p.A75S 0.982 NULL NULL - no_errors C4orf22 HGNC ENSG00000197826 36 0 0 31 2 6.06061 PCDHGB3 0 genome.wustl.edu 37 5 140751697 140751697 + Missense_Mutation SNP C C T TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 5 140751697 140751697 C T SNP PCDHGB3 ENST00000576222 human ensembl 74_37 +1 known missense c.1736 p.P579L 0.996 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB3 HGNC ENSG00000262209 62 0 0 62 4 6.06061 PCDHGA12 0 genome.wustl.edu 37 5 140810837 140810837 + Missense_Mutation SNP G G A TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 5 140810837 140810837 G A SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known missense c.511 p.E171K 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 101 0 0 90 33 26.8293 PRDM1 0 genome.wustl.edu 37 6 106555018 106555018 + Missense_Mutation SNP C C T TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 6 106555018 106555018 C T SNP PRDM1 ENST00000369096 human ensembl 74_37 +1 known missense c.2135 p.A712V 0.011 pirsf_Znf_PRDM1 pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM1 HGNC ENSG00000057657 223 0 0 158 11 6.50888 TMEM200A 0 genome.wustl.edu 37 6 130762898 130762898 + Missense_Mutation SNP T T C TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 6 130762898 130762898 T C SNP TMEM200A ENST00000296978 human ensembl 74_37 +1 known missense c.1331 p.L444P 0.867 NULL pfam_DUF2371_TMEM200 - no_errors TMEM200A HGNC ENSG00000164484 38 0 0 25 2 7.40741 RNF39 0 genome.wustl.edu 37 6 30038980 30038980 + Nonsense_Mutation SNP G G A TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 6 30038980 30038980 G A SNP RNF39 ENST00000244360 human ensembl 74_37 -1 known nonsense c.1171 p.Q391* 0.923 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RNF39 HGNC ENSG00000204618 17 0 0 5 2 28.5714 KMT2E 0 genome.wustl.edu 37 7 104715201 104715201 + Missense_Mutation SNP T T C TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 7 104715201 104715201 T C SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known missense c.668 p.V223A 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 20 0 0 21 7 25 ZNF862 0 genome.wustl.edu 37 7 149545222 149545222 + Missense_Mutation SNP G G A TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 7 149545222 149545222 G A SNP ZNF862 ENST00000223210 human ensembl 74_37 +1 known missense c.640 p.A214T 1.000 smart_Znf_TTF pfam_Krueppel-associated_box,pfam_HATC_dom_C,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box - no_errors ZNF862 HGNC ENSG00000106479 28 0 0 26 2 7.14286 KMT2C 0 genome.wustl.edu 37 7 151970951 151970951 + Missense_Mutation SNP C C T TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 7 151970951 151970951 C T SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.851 p.R284Q 1.000 smart_Znf_PHD 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 38 0 0 23 6 20.6897 WBSCR17 0 genome.wustl.edu 37 7 71175811 71175811 + Silent SNP T T C TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 7 71175811 71175811 T C SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known silent c.1566 p.P522 0.808 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 50 0 0 50 4 7.40741 TG 0 genome.wustl.edu 37 8 134108585 134108585 + Missense_Mutation SNP G G A TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 8 134108585 134108585 G A SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.7540 p.D2514N 0.920 pfam_CarbesteraseB,pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 126 0 0 99 6 5.71429 ENSG00000212884 0 genome.wustl.edu 37 GL000205.1 117384 117384 + Missense_Mutation SNP C C A TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 GL000205.1 117384 117384 C A SNP ENSG00000212884 ENST00000391571 human ensembl 74_37 +1 known missense c.15 p.H5Q NULL pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_cat_dom - no_errors AC011841.1 Clone_based_ensembl_gene ENSG00000212884 38 0 0 21 4 16 NKRF 0 genome.wustl.edu 37 X 118724855 118724855 + Missense_Mutation SNP G G A TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 X 118724855 118724855 G A SNP NKRF ENST00000542113 human ensembl 74_37 -1 known missense c.578 p.T193M 1.000 NULL pfam_G_patch_dom,pfam_R3H_ss-bd,smart_dsRNA-bd_dom,smart_G_patch_dom,smart_R3H_ss-bd,pfscan_G_patch_dom,pfscan_R3H_ss-bd - no_errors NKRF HGNC ENSG00000186416 49 0 0 47 6 11.3208 NHS 0 genome.wustl.edu 37 X 17744273 17744273 + Missense_Mutation SNP G G A TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 X 17744273 17744273 G A SNP NHS ENST00000380060 human ensembl 74_37 +1 known missense c.1984 p.V662M 0.593 NULL NULL - no_errors NHS HGNC ENSG00000188158 130 0 0 118 8 6.34921 FAT3 0 genome.wustl.edu 37 11 92258089 92258089 + Frame_Shift_Del DEL T T - TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 11 92258089 92258089 T - DEL FAT3 ENST00000298047 human ensembl 74_37 +1 known frame_shift_del c.3582 p.F1196fs 0.992 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 33 0 0 17 2 10.5263 PLCB4 0 genome.wustl.edu 37 20 9438094 9438095 + Frame_Shift_Del DEL AG AG - TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 20 9438094 9438095 AG - DEL PLCB4 ENST00000334005 human ensembl 74_37 +1 known frame_shift_del c.2994_2995 p.E999fs 1.000:1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB4 HGNC ENSG00000101333 30 0 0 24 3 11.1111 ANO10 0 genome.wustl.edu 37 3 43647213 43647213 + Frame_Shift_Del DEL T T - TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 3 43647213 43647213 T - DEL ANO10 ENST00000292246 human ensembl 74_37 -1 known frame_shift_del c.132 p.D45fs 1.000 NULL pfam_Anoctamin - no_errors ANO10 HGNC ENSG00000160746 28 0 0 16 3 15.7895 UBE2B 0 genome.wustl.edu 37 5 133707248 133707248 + RNA DEL T T - TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 5 133707248 133707248 T - DEL UBE2B ENST00000511807 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors UBE2B HGNC ENSG00000119048 16 0 0 23 3 11.5385 PHIP 0 genome.wustl.edu 37 6 79727245 79727245 + Frame_Shift_Del DEL A A - TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 6 79727245 79727245 A - DEL PHIP ENST00000275034 human ensembl 74_37 -1 known frame_shift_del c.1050 p.F350fs 1.000 superfamily_Quinonprotein_ADH-like_supfam,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC ENSG00000146247 25 0 0 17 2 10.5263