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 WNT2B 0 genome.wustl.edu 37 1 113058897 113058897 + Missense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 1 113058897 113058897 G A SNP WNT2B ENST00000369684 human ensembl 74_37 +1 known missense c.539 p.R180H 0.793 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2 - no_errors WNT2B HGNC ENSG00000134245 121 0 0 94 17 15.3153 FLG2 0 genome.wustl.edu 37 1 152327633 152327633 + Missense_Mutation SNP T T A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 1 152327633 152327633 T A SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.2629 p.S877C 0.002 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 249 0 0 187 69 26.9531 SEMA4A 0 genome.wustl.edu 37 1 156146218 156146218 + Silent SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 1 156146218 156146218 C T SNP SEMA4A ENST00000355014 human ensembl 74_37 +1 known silent c.1716 p.P572 0.995 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA4A HGNC ENSG00000196189 50 0 0 33 3 8.33333 COPA 0 genome.wustl.edu 37 1 160263238 160263238 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 1 160263238 160263238 C T SNP COPA ENST00000368069 human ensembl 74_37 -1 known missense c.2719 p.A907T 1.000 pfam_Coatomer_asu_C,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC ENSG00000122218 25 0 0 16 3 15.7895 HSPG2 0 genome.wustl.edu 37 1 22188576 22188576 + Silent SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 1 22188576 22188576 G A SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known silent c.4773 p.C1591 0.372 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 71 0 0 54 8 12.9032 OBSCN 0 genome.wustl.edu 37 1 228437778 228437778 + Silent SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 1 228437778 228437778 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.4146 p.T1382 0.012 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 123 0 0 112 15 11.811 SIPA1L2 0 genome.wustl.edu 37 1 232581434 232581434 + Missense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 1 232581434 232581434 G A SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.3194 p.T1065M 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 108 0 0 88 7 7.36842 LGALS8 0 genome.wustl.edu 37 1 236708103 236708103 + Missense_Mutation SNP A A T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 1 236708103 236708103 A T SNP LGALS8 ENST00000352231 human ensembl 74_37 +1 known missense c.818 p.N273I 1.000 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS8 HGNC ENSG00000116977 132 0 0 128 14 9.85915 FMN2 0 genome.wustl.edu 37 1 240555838 240555838 + Missense_Mutation SNP A A C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 1 240555838 240555838 A C SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.4886 p.N1629T 0.645 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 145 0 0 149 15 9.14634 MYOM3 0 genome.wustl.edu 37 1 24418800 24418800 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 1 24418800 24418800 C T SNP MYOM3 ENST00000330966 human ensembl 74_37 -1 known missense c.1099 p.E367K 0.011 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 MYOM3 HGNC ENSG00000142661 73 0 0 60 8 11.7647 OR2T12 0 genome.wustl.edu 37 1 248457994 248457994 + Missense_Mutation SNP T T G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 1 248457994 248457994 T G SNP OR2T12 ENST00000317996 human ensembl 74_37 -1 known missense c.887 p.K296T 0.001 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T12 HGNC ENSG00000177201 225 0 0 237 16 6.32411 C8A 0 genome.wustl.edu 37 1 57347266 57347266 + Missense_Mutation SNP T T C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 1 57347266 57347266 T C SNP C8A ENST00000361249 human ensembl 74_37 +1 known missense c.613 p.Y205H 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 112 0 0 114 15 11.6279 LPHN2 0 genome.wustl.edu 37 1 82302724 82302724 + Missense_Mutation SNP T T G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 1 82302724 82302724 T G SNP LPHN2 ENST00000370717 human ensembl 74_37 +1 known missense c.55 p.F19V 1.000 NULL pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors LPHN2 HGNC ENSG00000117114 58 0 0 74 4 5.12821 CA6 0 genome.wustl.edu 37 1 9009386 9009386 + Silent SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 1 9009386 9009386 G A SNP CA6 ENST00000377443 human ensembl 74_37 +1 known silent c.144 p.S48 0.073 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA6 HGNC ENSG00000131686 49 0 0 44 4 8.33333 FAM208B 0 genome.wustl.edu 37 10 5766451 5766451 + Silent SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 10 5766451 5766451 G A SNP FAM208B ENST00000328090 human ensembl 74_37 +1 known silent c.306 p.G102 0.321 pfam_DUF3699 pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 101 0 0 99 12 10.8108 WAPAL 0 genome.wustl.edu 37 10 88220968 88220968 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 10 88220968 88220968 C T SNP WAPAL ENST00000298767 human ensembl 74_37 -1 known missense c.2447 p.R816Q 1.000 pfam_WAPL_prot,superfamily_ARM-type_fold pfam_WAPL_prot,superfamily_ARM-type_fold - no_errors WAPAL HGNC ENSG00000062650 170 0 0 137 9 6.16438 KIF20B 0 genome.wustl.edu 37 10 91533796 91533796 + Silent SNP A A G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 10 91533796 91533796 A G SNP KIF20B ENST00000416354 human ensembl 74_37 +1 known silent c.5544 p.T1848 0.558 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 100 0 0 86 5 5.49451 HECTD2 0 genome.wustl.edu 37 10 93250996 93250996 + Missense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 10 93250996 93250996 G A SNP HECTD2 ENST00000446394 human ensembl 74_37 +1 known missense c.1243 p.D415N 1.000 superfamily_HECT pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT - no_errors HECTD2 HGNC ENSG00000165338 108 0 0 73 7 8.75 GRIK4 0 genome.wustl.edu 37 11 120811160 120811160 + Silent SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 11 120811160 120811160 C T SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known silent c.1581 p.R527 0.695 pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 99 0 0 87 16 15.534 OR4C13 0 genome.wustl.edu 37 11 49974468 49974468 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 11 49974468 49974468 C T SNP OR4C13 ENST00000555099 human ensembl 74_37 +1 known missense c.494 p.P165L 0.287 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C13 HGNC ENSG00000258817 144 0 0 123 21 14.5833 OR5D13 0 genome.wustl.edu 37 11 55541130 55541130 + Missense_Mutation SNP T T G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 11 55541130 55541130 T G SNP OR5D13 ENST00000361760 human ensembl 74_37 +1 known missense c.217 p.F73V 0.863 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 OR5D13 HGNC ENSG00000198877 139 1 0.714286 151 14 8.48485 AHNAK 0 genome.wustl.edu 37 11 62299903 62299903 + Silent SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 11 62299903 62299903 G A SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known silent c.1986 p.P662 0.011 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 241 0 0 187 28 13.0233 SLC22A6 0 genome.wustl.edu 37 11 62747361 62747361 + Missense_Mutation SNP C C A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 11 62747361 62747361 C A SNP SLC22A6 ENST00000377871 human ensembl 74_37 -1 known missense c.1097 p.S366I 1.000 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 SLC22A6 HGNC ENSG00000197901 72 0 0 53 5 8.62069 ZFPL1 0 genome.wustl.edu 37 11 64854058 64854058 + Missense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 11 64854058 64854058 G A SNP ZFPL1 ENST00000294258 human ensembl 74_37 +1 known missense c.386 p.R129Q 1.000 NULL NULL - no_errors ZFPL1 HGNC ENSG00000162300 93 0 0 69 14 16.8675 VPS51 0 genome.wustl.edu 37 11 64875710 64875710 + Missense_Mutation SNP A A G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 11 64875710 64875710 A G SNP VPS51 ENST00000279281 human ensembl 74_37 +1 known missense c.767 p.E256G 1.000 superfamily_Cullin_repeat-like_dom pfam_COG8,pfam_Vacuolar_sorting-assoc_54,pfam_COG_su2_N,pfam_RZZ-complex_Zw10,superfamily_Cullin_repeat-like_dom - no_errors VPS51 HGNC ENSG00000149823 12 0 0 12 4 25 SLC36A4 0 genome.wustl.edu 37 11 92918925 92918925 + Missense_Mutation SNP A A T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 11 92918925 92918925 A T SNP SLC36A4 ENST00000326402 human ensembl 74_37 -1 known missense c.111 p.D37E 1.000 NULL pfam_AA_transpt_TM - no_errors SLC36A4 HGNC ENSG00000180773 89 0 0 95 13 12.037 ANO4 0 genome.wustl.edu 37 12 101520783 101520783 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 12 101520783 101520783 C T SNP ANO4 ENST00000392977 human ensembl 74_37 +1 known missense c.2803 p.R935C 1.000 NULL pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 45 0 0 26 5 16.129 TPCN1 0 genome.wustl.edu 37 12 113704147 113704147 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 12 113704147 113704147 C T SNP TPCN1 ENST00000541517 human ensembl 74_37 +1 known missense c.616 p.R206W 1.000 NULL pfam_Ion_trans_dom - no_errors TPCN1 HGNC ENSG00000186815 383 0 0 308 50 13.9665 EP400 0 genome.wustl.edu 37 12 132547093 132547093 + Silent SNP A A G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 12 132547093 132547093 A G SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.8289 p.Q2763 0.900 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 67 0 0 56 3 5.08475 SLCO1B3 0 genome.wustl.edu 37 12 21028196 21028196 + Missense_Mutation SNP C C A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 12 21028196 21028196 C A SNP SLCO1B3 ENST00000553473 human ensembl 74_37 +1 known missense c.755 p.S252Y 0.969 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 SLCO1B3 HGNC ENSG00000111700 217 0 0 216 26 10.7438 SLCO1B3 0 genome.wustl.edu 37 12 21051412 21051412 + Missense_Mutation SNP G G C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 12 21051412 21051412 G C SNP SLCO1B3 ENST00000553473 human ensembl 74_37 +1 known missense c.1725 p.Q575H 0.096 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 72 0 0 78 12 13.3333 CACNA1C 0 genome.wustl.edu 37 12 2558239 2558239 + Missense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 12 2558239 2558239 G A SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.575 p.R192H 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 21 0 0 15 4 21.0526 A2M 0 genome.wustl.edu 37 12 9231877 9231877 + Missense_Mutation SNP A A C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 12 9231877 9231877 A C SNP A2M ENST00000318602 human ensembl 74_37 -1 known missense c.3082 p.F1028V 1.000 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 110 0 0 90 5 5.26316 CLLU1OS 0 genome.wustl.edu 37 12 92814941 92814941 + Silent SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 12 92814941 92814941 G A SNP CLLU1OS ENST00000378487 human ensembl 74_37 -1 known silent c.151 p.L51 0.003 NULL NULL - no_errors CLLU1OS HGNC ENSG00000205057 93 0 0 99 13 11.6071 SPG20 0 genome.wustl.edu 37 13 36878722 36878722 + Missense_Mutation SNP G G T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 13 36878722 36878722 G T SNP SPG20 ENST00000355182 human ensembl 74_37 -1 known missense c.1781 p.A594E 1.000 pfam_Senescence/spartin pfam_Senescence/spartin,pfam_MIT,smart_MIT - no_errors SPG20 HGNC ENSG00000133104 77 0 0 69 16 18.8235 SMAD9 0 genome.wustl.edu 37 13 37427777 37427777 + Missense_Mutation SNP C C A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 13 37427777 37427777 C A SNP SMAD9 ENST00000379826 human ensembl 74_37 -1 known missense c.1039 p.A347S 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 SMAD9 HGNC ENSG00000120693 56 0 0 44 11 20 PCDH17 0 genome.wustl.edu 37 13 58208453 58208453 + Missense_Mutation SNP C C A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 13 58208453 58208453 C A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.1773 p.D591E 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 49 0 0 29 5 14.7059 GPC6 0 genome.wustl.edu 37 13 94938678 94938678 + Missense_Mutation SNP A A G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 13 94938678 94938678 A G SNP GPC6 ENST00000377047 human ensembl 74_37 +1 known missense c.953 p.K318R 1.000 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 70 0 0 51 11 17.7419 SLC25A29 0 genome.wustl.edu 37 14 100765194 100765194 + Silent SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 14 100765194 100765194 C T SNP SLC25A29 ENST00000359232 human ensembl 74_37 -1 known silent c.63 p.P21 0.029 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 SLC25A29 HGNC ENSG00000197119 77 0 0 42 7 14.2857 ZNF219 0 genome.wustl.edu 37 14 21560052 21560052 + Silent SNP C C G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 14 21560052 21560052 C G SNP ZNF219 ENST00000360947 human ensembl 74_37 -1 known silent c.1404 p.G468 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Histamine_H3_rcpt - no_errors ZNF219 HGNC ENSG00000165804 36 0 0 31 5 13.8889 OR10G2 0 genome.wustl.edu 37 14 22102378 22102378 + Silent SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 14 22102378 22102378 G A SNP OR10G2 ENST00000542433 human ensembl 74_37 -1 known silent c.621 p.D207 0.885 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G2 HGNC ENSG00000255582 66 0 0 51 8 13.5593 FITM1 0 genome.wustl.edu 37 14 24601699 24601699 + Silent SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 14 24601699 24601699 C T SNP FITM1 ENST00000267426 human ensembl 74_37 +1 known silent c.546 p.T182 0.005 pfam_FIT pfam_FIT - no_errors FITM1 HGNC ENSG00000139914 76 0 0 64 11 14.6667 SLC25A21 0 genome.wustl.edu 37 14 37180670 37180670 + Silent SNP A A C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 14 37180670 37180670 A C SNP SLC25A21 ENST00000331299 human ensembl 74_37 -1 known silent c.456 p.G152 0.050 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 SLC25A21 HGNC ENSG00000183032 81 0 0 72 12 14.2857 ZFYVE1 0 genome.wustl.edu 37 14 73459882 73459882 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 14 73459882 73459882 C T SNP ZFYVE1 ENST00000553891 human ensembl 74_37 -1 known missense c.1172 p.R391Q 1.000 superfamily_Growth_fac_rcpt_N_dom pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_P-loop_NTPase,superfamily_Growth_fac_rcpt_N_dom,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE1 HGNC ENSG00000165861 79 0 0 71 9 11.25 YLPM1 0 genome.wustl.edu 37 14 75248531 75248531 + Silent SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 14 75248531 75248531 C T SNP YLPM1 ENST00000325680 human ensembl 74_37 +1 known silent c.1785 p.S595 0.997 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 112 0 0 123 14 10.219 HERC2 0 genome.wustl.edu 37 15 28459817 28459817 + Silent SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 15 28459817 28459817 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known silent c.6342 p.D2114 0.147 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 49 0 0 51 3 5.55556 DISP2 0 genome.wustl.edu 37 15 40661112 40661112 + Silent SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 15 40661112 40661112 G A SNP DISP2 ENST00000267889 human ensembl 74_37 +1 known silent c.2799 p.A933 0.000 NULL pfscan_SSD - no_errors DISP2 HGNC ENSG00000140323 110 0 0 69 21 23.3333 PRKCB 0 genome.wustl.edu 37 16 24226123 24226123 + Missense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 16 24226123 24226123 G A SNP PRKCB ENST00000303531 human ensembl 74_37 +1 known missense c.2008 p.E670K 1.000 pirsf_Protein_kinase_C_a/b/g pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCB HGNC ENSG00000166501 126 0 0 121 8 6.20155 AQP8 0 genome.wustl.edu 37 16 25235898 25235898 + Splice_Site SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 16 25235898 25235898 G A SNP AQP8 ENST00000219660 human ensembl 74_37 +1 known splice_site c.602+1 e4+1 1.000 - - - no_errors AQP8 HGNC ENSG00000103375 30 0 0 17 4 19.0476 SLC7A6OS 0 genome.wustl.edu 37 16 68344764 68344764 + Silent SNP A A C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 16 68344764 68344764 A C SNP SLC7A6OS ENST00000263997 human ensembl 74_37 -1 known silent c.66 p.A22 0.008 NULL NULL - no_errors SLC7A6OS HGNC ENSG00000103061 23 0 0 15 4 21.0526 COG8 0 genome.wustl.edu 37 16 69366758 69366758 + Missense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 16 69366758 69366758 G A SNP COG8 ENST00000306875 human ensembl 74_37 -1 known missense c.1441 p.R481C 1.000 pirsf_COG8_Metazoal_Plant pfam_COG8,superfamily_Cullin_repeat-like_dom,pirsf_COG8_Metazoal_Plant - no_errors COG8 HGNC ENSG00000213380 79 0 0 66 4 5.71429 GLG1 0 genome.wustl.edu 37 16 74487204 74487204 + Missense_Mutation SNP A A T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 16 74487204 74487204 A T SNP GLG1 ENST00000205061 human ensembl 74_37 -1 known missense c.3401 p.L1134H 1.000 NULL pfam_Cys-rich_GLG1_repeat - no_errors GLG1 HGNC ENSG00000090863 60 0 0 54 5 8.47458 KRT28 0 genome.wustl.edu 37 17 38953225 38953225 + Silent SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 17 38953225 38953225 G A SNP KRT28 ENST00000306658 human ensembl 74_37 -1 known silent c.921 p.T307 0.002 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT28 HGNC ENSG00000173908 101 0 0 88 5 5.37634 STAT3 0 genome.wustl.edu 37 17 40485746 40485746 + Missense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 17 40485746 40485746 G A SNP STAT3 ENST00000264657 human ensembl 74_37 -1 known missense c.994 p.H332Y 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT3 HGNC ENSG00000168610 73 0 0 71 5 6.57895 ACBD4 0 genome.wustl.edu 37 17 43213915 43213915 + Missense_Mutation SNP A A G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 17 43213915 43213915 A G SNP ACBD4 ENST00000431281 human ensembl 74_37 +1 known missense c.137 p.Y46C 1.000 pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors ACBD4 HGNC ENSG00000181513 155 0 0 102 23 18.4 GPRC5C 0 genome.wustl.edu 37 17 72436661 72436661 + Missense_Mutation SNP C C A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 17 72436661 72436661 C A SNP GPRC5C ENST00000392627 human ensembl 74_37 +1 known missense c.881 p.T294K 0.376 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5C HGNC ENSG00000170412 79 0 0 55 8 12.6984 C17orf77 0 genome.wustl.edu 37 17 72588200 72588200 + Silent SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 17 72588200 72588200 G A SNP C17orf77 ENST00000328023 human ensembl 74_37 +1 known silent c.15 p.A5 0.000 NULL NULL - no_errors C17orf77 HGNC ENSG00000182352 181 0 0 197 11 5.28846 TP53 0 genome.wustl.edu 37 17 7577022 7577022 + Nonsense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 17 7577022 7577022 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.916 p.R306* 1.000 NULL 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 104 0 0 76 15 16.4835 DSEL 0 genome.wustl.edu 37 18 65180695 65180695 + Missense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 18 65180695 65180695 G A SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.1181 p.T394I 1.000 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 89 0 0 64 10 13.5135 CDC37 0 genome.wustl.edu 37 19 10505732 10505732 + Missense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 19 10505732 10505732 G A SNP CDC37 ENST00000222005 human ensembl 74_37 -1 known missense c.691 p.R231W 1.000 pfam_Cdc37_Hsp90-bd pfam_Cdc37_Hsp90-bd,pfam_Cdc37_N_dom,pfam_Cdc37_C - no_errors CDC37 HGNC ENSG00000105401 96 0 0 95 5 5 CPAMD8 0 genome.wustl.edu 37 19 17008738 17008738 + Missense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 19 17008738 17008738 G A SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known missense c.5057 p.S1686L 0.993 pfam_A-macroglobulin_rcpt-bd,superfamily_A-macroglobulin_rcpt-bd pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 40 0 0 22 4 15.3846 DDX49 0 genome.wustl.edu 37 19 19035507 19035507 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 19 19035507 19035507 C T SNP DDX49 ENST00000247003 human ensembl 74_37 +1 known missense c.928 p.R310W 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX49 HGNC ENSG00000105671 90 0 0 63 9 12.5 URI1 0 genome.wustl.edu 37 19 30502064 30502064 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 19 30502064 30502064 C T SNP URI1 ENST00000542441 human ensembl 74_37 +1 known missense c.1099 p.R367C 1.000 NULL pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin - no_errors URI1 HGNC ENSG00000105176 125 0 0 134 15 10.0671 ZNF568 0 genome.wustl.edu 37 19 37440970 37440970 + Silent SNP T T G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 19 37440970 37440970 T G SNP ZNF568 ENST00000333987 human ensembl 74_37 +1 known silent c.915 p.P305 0.084 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 ZNF568 HGNC ENSG00000198453 43 0 0 54 5 8.47458 LYPD4 0 genome.wustl.edu 37 19 42343074 42343074 + Missense_Mutation SNP T T C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 19 42343074 42343074 T C SNP LYPD4 ENST00000330743 human ensembl 74_37 -1 known missense c.92 p.E31G 0.999 NULL pfam_LY6_UPAR - no_errors LYPD4 HGNC ENSG00000183103 165 0 0 131 12 8.39161 ATP1A3 0 genome.wustl.edu 37 19 42471430 42471430 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 19 42471430 42471430 C T SNP ATP1A3 ENST00000302102 human ensembl 74_37 -1 known missense c.2984 p.R995H 1.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A3 HGNC ENSG00000105409 59 0 0 56 5 8.19672 ZNF813 0 genome.wustl.edu 37 19 53995030 53995030 + Missense_Mutation SNP G G T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 19 53995030 53995030 G T SNP ZNF813 ENST00000396403 human ensembl 74_37 +1 known missense c.1544 p.R515I 0.188 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 ZNF813 HGNC ENSG00000198346 49 0 0 56 4 6.66667 LILRA3 0 genome.wustl.edu 37 19 54803095 54803095 + Silent SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 19 54803095 54803095 C T SNP LILRA3 ENST00000251390 human ensembl 74_37 -1 known silent c.582 p.S194 0.000 pirsf_A1B_glyco/leuk_Ig-like_rcpt pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA3 HGNC ENSG00000170866 153 1 0.649351 137 20 12.7389 MUC16 0 genome.wustl.edu 37 19 9047473 9047473 + Missense_Mutation SNP T T G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 19 9047473 9047473 T G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.34158 p.E11386D 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 232 0 0 166 29 14.8718 PXDN 0 genome.wustl.edu 37 2 1652393 1652393 + Silent SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 2 1652393 1652393 G A SNP PXDN ENST00000252804 human ensembl 74_37 -1 known silent c.3159 p.Y1053 0.998 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 30 0 0 14 4 22.2222 CPS1 0 genome.wustl.edu 37 2 211465372 211465372 + Missense_Mutation SNP A A C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 2 211465372 211465372 A C SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known missense c.1661 p.Q554P 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_PreATP-grasp_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 131 0 0 144 17 10.559 DOCK10 0 genome.wustl.edu 37 2 225688336 225688336 + Missense_Mutation SNP G G T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 2 225688336 225688336 G T SNP DOCK10 ENST00000258390 human ensembl 74_37 -1 known missense c.3065 p.S1022Y 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 125 0 0 121 7 5.46875 TMEM131 0 genome.wustl.edu 37 2 98392446 98392446 + Missense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 2 98392446 98392446 G A SNP TMEM131 ENST00000186436 human ensembl 74_37 -1 known missense c.4180 p.P1394S 0.801 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 114 0 0 91 18 16.5138 APMAP 0 genome.wustl.edu 37 20 24954292 24954292 + Missense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 20 24954292 24954292 G A SNP APMAP ENST00000217456 human ensembl 74_37 -1 known missense c.410 p.S137L 0.302 NULL pfam_Strictosidine_synth_cons-reg,pfam_SGL - no_errors APMAP HGNC ENSG00000101474 69 0 0 62 7 10.1449 PCED1A 0 genome.wustl.edu 37 20 2818920 2818920 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 20 2818920 2818920 C T SNP PCED1A ENST00000360652 human ensembl 74_37 -1 known missense c.799 p.D267N 0.977 NULL NULL - no_errors PCED1A HGNC ENSG00000132635 101 0 0 85 10 10.5263 SIGLEC1 0 genome.wustl.edu 37 20 3674309 3674309 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 20 3674309 3674309 C T SNP SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known missense c.3293 p.R1098Q 0.494 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC1 HGNC ENSG00000088827 71 0 0 53 6 10.1695 MYBL2 0 genome.wustl.edu 37 20 42344707 42344707 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 20 42344707 42344707 C T SNP MYBL2 ENST00000217026 human ensembl 74_37 +1 known missense c.2083 p.R695W 1.000 NULL pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL2 HGNC ENSG00000101057 198 0 0 208 25 10.7296 EEF1A2 0 genome.wustl.edu 37 20 62126325 62126325 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 20 62126325 62126325 C T SNP EEF1A2 ENST00000217182 human ensembl 74_37 -1 known missense c.454 p.V152M 0.982 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A2 HGNC ENSG00000101210 123 0 0 93 10 9.70874 ARFRP1 0 genome.wustl.edu 37 20 62331793 62331793 + RNA SNP G G C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 20 62331793 62331793 G C SNP ARFRP1 ENST00000485858 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ARFRP1 HGNC ENSG00000101246 46 0 0 54 5 8.47458 ZDHHC8 0 genome.wustl.edu 37 22 20130417 20130417 + Missense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 22 20130417 20130417 G A SNP ZDHHC8 ENST00000405930 human ensembl 74_37 +1 known missense c.1264 p.A422T 0.871 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC8 HGNC ENSG00000099904 24 0 0 20 6 23.0769 PFKFB4 0 genome.wustl.edu 37 3 48587369 48587369 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 3 48587369 48587369 C T SNP PFKFB4 ENST00000232375 human ensembl 74_37 -1 known missense c.239 p.R80Q 1.000 pfam_6Phosfructo_kin,superfamily_P-loop_NTPase,pirsf_Bifunct_6PFK/fruc_bisP_Ptase pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB4 HGNC ENSG00000114268 87 0 0 69 9 11.5385 QARS 0 genome.wustl.edu 37 3 49139687 49139687 + Silent SNP A A C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 3 49139687 49139687 A C SNP QARS ENST00000306125 human ensembl 74_37 -1 known silent c.582 p.A194 0.022 pfam_Gln-tRNA-synth_Ib_RNA-bd_2 pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_Gln-tRNA-synth_Ib_RNA-bd_2,superfamily_Ribosomal_L25/Gln-tRNA_synth,prints_Glu/Gln-tRNA-synth,tigrfam_Gln-tRNA-synth - no_errors QARS HGNC ENSG00000172053 357 0 0 271 43 13.6943 VPRBP 0 genome.wustl.edu 37 3 51457862 51457862 + Missense_Mutation SNP T T C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 3 51457862 51457862 T C SNP VPRBP ENST00000335891 human ensembl 74_37 -1 known missense c.1215 p.I405M 0.934 superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors VPRBP HGNC ENSG00000145041 82 0 0 69 6 8 SNTN 0 genome.wustl.edu 37 3 63638466 63638466 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 3 63638466 63638466 C T SNP SNTN ENST00000343837 human ensembl 74_37 +1 known missense c.103 p.P35S 0.995 NULL NULL - no_errors SNTN HGNC ENSG00000188817 56 0 0 46 15 24.5902 ARL13B 0 genome.wustl.edu 37 3 93758757 93758757 + Missense_Mutation SNP T T G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 3 93758757 93758757 T G SNP ARL13B ENST00000394222 human ensembl 74_37 +1 known missense c.723 p.D241E 0.880 NULL pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom - no_errors ARL13B HGNC ENSG00000169379 61 0 0 47 5 9.61538 KIAA1109 0 genome.wustl.edu 37 4 123252486 123252486 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 4 123252486 123252486 C T SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.11255 p.T3752M 0.388 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 22 0 0 21 6 22.2222 FAT4 0 genome.wustl.edu 37 4 126241072 126241072 + Missense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 4 126241072 126241072 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.3506 p.R1169Q 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 187 1 0.531915 186 14 7 ZNF827 0 genome.wustl.edu 37 4 146806888 146806888 + Silent SNP T T C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 4 146806888 146806888 T C SNP ZNF827 ENST00000508784 human ensembl 74_37 -1 known silent c.1689 p.A563 0.976 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF827 HGNC ENSG00000151612 103 0 0 104 7 6.30631 NPY1R 0 genome.wustl.edu 37 4 164246633 164246633 + Missense_Mutation SNP T T G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 4 164246633 164246633 T G SNP NPY1R ENST00000296533 human ensembl 74_37 -1 known missense c.977 p.N326T 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_NPY1_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_Glucose_rcpt_Git3_N,pfscan_GPCR_Rhodpsn_7TM,prints_NPY1_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPY1R HGNC ENSG00000164128 121 0 0 124 10 7.46269 LDB2 0 genome.wustl.edu 37 4 16587554 16587554 + Missense_Mutation SNP G G C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 4 16587554 16587554 G C SNP LDB2 ENST00000304523 human ensembl 74_37 -1 known missense c.606 p.N202K 1.000 NULL NULL - no_errors LDB2 HGNC ENSG00000169744 138 0 0 103 18 14.876 SPATA18 0 genome.wustl.edu 37 4 52926960 52926960 + Missense_Mutation SNP A A T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 4 52926960 52926960 A T SNP SPATA18 ENST00000295213 human ensembl 74_37 +1 known missense c.206 p.D69V 0.082 NULL NULL - no_errors SPATA18 HGNC ENSG00000163071 97 0 0 81 9 10 KDR 0 genome.wustl.edu 37 4 55968591 55968591 + Missense_Mutation SNP G G T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 4 55968591 55968591 G T SNP KDR ENST00000263923 human ensembl 74_37 -1 known missense c.2072 p.S691Y 0.994 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR2_rcpt - no_errors KDR HGNC ENSG00000128052 135 0 0 114 10 8.06452 SLC25A46 0 genome.wustl.edu 37 5 110097216 110097216 + Missense_Mutation SNP C C G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 5 110097216 110097216 C G SNP SLC25A46 ENST00000355943 human ensembl 74_37 +1 known missense c.991 p.L331V 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A46 HGNC ENSG00000164209 259 0 0 269 24 8.19113 CDH18 0 genome.wustl.edu 37 5 19839105 19839105 + RNA SNP A A C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 5 19839105 19839105 A C SNP CDH18 ENST00000511423 human ensembl 74_37 -1 known rna NULL NULL 0.729 - - - no_errors CDH18 HGNC ENSG00000145526 52 0 0 57 9 13.6364 PRDM9 0 genome.wustl.edu 37 5 23522743 23522743 + Missense_Mutation SNP T T G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 5 23522743 23522743 T G SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known missense c.631 p.F211V 0.992 NULL pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 61 0 0 42 5 10.6383 ERBB2IP 0 genome.wustl.edu 37 5 65288678 65288678 + Silent SNP T T C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 5 65288678 65288678 T C SNP ERBB2IP ENST00000284037 human ensembl 74_37 +1 known silent c.132 p.F44 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 81 0 0 74 5 6.32911 GPR98 0 genome.wustl.edu 37 5 89954028 89954028 + Missense_Mutation SNP G G T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 5 89954028 89954028 G T SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.4685 p.R1562I 0.476 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 112 0 0 115 12 9.44882 FAM81B 0 genome.wustl.edu 37 5 94764400 94764400 + Silent SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 5 94764400 94764400 C T SNP FAM81B ENST00000283357 human ensembl 74_37 +1 known silent c.750 p.P250 0.075 NULL NULL - no_errors FAM81B HGNC ENSG00000153347 138 0 0 136 15 9.93377 UTRN 0 genome.wustl.edu 37 6 144811268 144811268 + Missense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 6 144811268 144811268 G A SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.4196 p.R1399H 0.053 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 149 0 0 114 13 10.2362 PPIL4 0 genome.wustl.edu 37 6 149826767 149826767 + Missense_Mutation SNP T T C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 6 149826767 149826767 T C SNP PPIL4 ENST00000253329 human ensembl 74_37 -1 known missense c.1301 p.K434R 1.000 NULL pfam_Cyclophilin-like_PPIase_dom,pfam_RRM_dom,superfamily_Cyclophilin-like_PPIase_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL4 HGNC ENSG00000131013 112 0 0 92 8 8 LPA 0 genome.wustl.edu 37 6 161010612 161010612 + Missense_Mutation SNP T T C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 6 161010612 161010612 T C SNP LPA ENST00000316300 human ensembl 74_37 -1 known missense c.3920 p.Q1307R 0.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors LPA HGNC ENSG00000198670 100 0 0 83 9 9.78261 NUP153 0 genome.wustl.edu 37 6 17629488 17629488 + Missense_Mutation SNP A A C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 6 17629488 17629488 A C SNP NUP153 ENST00000537253 human ensembl 74_37 -1 known missense c.3035 p.F1012C 1.000 NULL pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 86 0 0 58 7 10.7692 ATAT1 0 genome.wustl.edu 37 6 30610778 30610778 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 6 30610778 30610778 C T SNP ATAT1 ENST00000376485 human ensembl 74_37 +1 known missense c.958 p.R320C 0.984 NULL pfam_Alpha-TAT,superfamily_Acyl_CoA_acyltransferase - no_errors ATAT1 HGNC ENSG00000137343 143 0 0 152 18 10.5882 BRD2 0 genome.wustl.edu 37 6 32945244 32945244 + Missense_Mutation SNP G G T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 6 32945244 32945244 G T SNP BRD2 ENST00000395289 human ensembl 74_37 +1 known missense c.1226 p.R409L 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD2 HGNC ENSG00000204256 192 0 0 153 25 14.0449 DUSP22 0 genome.wustl.edu 37 6 345906 345906 + Missense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 6 345906 345906 G A SNP DUSP22 ENST00000419235 human ensembl 74_37 +1 known missense c.241 p.G81S 0.996 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors DUSP22 HGNC ENSG00000112679 155 0 0 128 8 5.88235 KCNK5 0 genome.wustl.edu 37 6 39159379 39159379 + Missense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 6 39159379 39159379 G A SNP KCNK5 ENST00000359534 human ensembl 74_37 -1 known missense c.787 p.R263W 0.997 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK5 HGNC ENSG00000164626 155 0 0 134 20 12.987 SLC13A1 0 genome.wustl.edu 37 7 122765669 122765669 + Silent SNP A A G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 7 122765669 122765669 A G SNP SLC13A1 ENST00000194130 human ensembl 74_37 -1 known silent c.1194 p.L398 0.373 pfam_Na/sul_symport,pfam_Cit_transptr-like_dom pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A1 HGNC ENSG00000081800 199 0 0 191 20 9.47867 PRSS3P2 0 genome.wustl.edu 37 7 142481342 142481342 + RNA SNP G G C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 7 142481342 142481342 G C SNP PRSS3P2 ENST00000603901 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PRSS3P2 HGNC ENSG00000250606 26 0 0 15 4 21.0526 OR2F1 0 genome.wustl.edu 37 7 143657178 143657178 + Missense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 7 143657178 143657178 G A SNP OR2F1 ENST00000392899 human ensembl 74_37 +1 known missense c.115 p.V39M 0.130 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2F1 HGNC ENSG00000213215 338 0 0 283 22 7.21311 ABCB5 0 genome.wustl.edu 37 7 20685666 20685666 + Missense_Mutation SNP T T G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 7 20685666 20685666 T G SNP ABCB5 ENST00000404938 human ensembl 74_37 +1 putative missense c.886 p.F296V 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB5 HGNC ENSG00000004846 92 0 0 83 13 13.5417 CDK13 0 genome.wustl.edu 37 7 40132537 40132537 + Missense_Mutation SNP A A T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 7 40132537 40132537 A T SNP CDK13 ENST00000181839 human ensembl 74_37 +1 known missense c.3389 p.N1130I 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 CDK13 HGNC ENSG00000065883 112 0 0 94 13 12.1495 GLI3 0 genome.wustl.edu 37 7 42004616 42004616 + Nonsense_Mutation SNP G G T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 7 42004616 42004616 G T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known nonsense c.4055 p.S1352* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 61 0 0 42 6 12.5 POLD2 0 genome.wustl.edu 37 7 44157562 44157562 + Silent SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 7 44157562 44157562 G A SNP POLD2 ENST00000406581 human ensembl 74_37 -1 known silent c.322 p.L108 1.000 NULL pfam_DNA_pol_alpha/epsilon_bsu - no_errors POLD2 HGNC ENSG00000106628 81 0 0 75 10 11.7647 ANGPT1 0 genome.wustl.edu 37 8 108306233 108306233 + Silent SNP A A T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 8 108306233 108306233 A T SNP ANGPT1 ENST00000517746 human ensembl 74_37 -1 known silent c.969 p.G323 0.894 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT1 HGNC ENSG00000154188 101 0 0 117 9 7.14286 CSMD3 0 genome.wustl.edu 37 8 113317004 113317004 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 8 113317004 113317004 C T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.8212 p.E2738K 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 78 0 0 66 30 31.25 CSMD3 0 genome.wustl.edu 37 8 113318286 113318286 + Missense_Mutation SNP C C A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 8 113318286 113318286 C A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.8021 p.C2674F 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 147 0 0 183 10 5.18135 ADCY8 0 genome.wustl.edu 37 8 132052057 132052057 + Missense_Mutation SNP A A C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 8 132052057 132052057 A C SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.523 p.L175V 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 62 0 0 68 5 6.84932 DLC1 0 genome.wustl.edu 37 8 13258989 13258989 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 8 13258989 13258989 C T SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known missense c.1163 p.R388Q 0.995 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 61 0 0 73 18 19.7802 TONSL 0 genome.wustl.edu 37 8 145661049 145661049 + Nonsense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 8 145661049 145661049 G A SNP TONSL ENST00000409379 human ensembl 74_37 -1 known nonsense c.2767 p.Q923* 0.058 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 66 0 0 46 6 11.5385 TUSC3 0 genome.wustl.edu 37 8 15480646 15480646 + Missense_Mutation SNP T T G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 8 15480646 15480646 T G SNP TUSC3 ENST00000503731 human ensembl 74_37 +1 known missense c.196 p.F66V 1.000 superfamily_Thioredoxin-like_fold pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TUSC3 HGNC ENSG00000104723 87 0 0 110 15 12 CSMD1 0 genome.wustl.edu 37 8 3200843 3200843 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 8 3200843 3200843 C T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.3607 p.D1203N 0.226 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 103 0 0 71 5 6.57895 ZMAT4 0 genome.wustl.edu 37 8 40625183 40625183 + Missense_Mutation SNP C C A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 8 40625183 40625183 C A SNP ZMAT4 ENST00000297737 human ensembl 74_37 -1 known missense c.169 p.A57S 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT4 HGNC ENSG00000165061 51 0 0 57 5 8.06452 RP1 0 genome.wustl.edu 37 8 55541424 55541424 + Missense_Mutation SNP C C G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 8 55541424 55541424 C G SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.4982 p.S1661C 0.611 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 198 0 0 185 15 7.5 RMDN1 0 genome.wustl.edu 37 8 87491204 87491204 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 8 87491204 87491204 C T SNP RMDN1 ENST00000406452 human ensembl 74_37 -1 known missense c.677 p.R226K 1.000 NULL NULL - no_errors RMDN1 HGNC ENSG00000176623 205 1 0.485437 173 60 25.7511 SDC2 0 genome.wustl.edu 37 8 97614693 97614693 + Missense_Mutation SNP T T G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 8 97614693 97614693 T G SNP SDC2 ENST00000302190 human ensembl 74_37 +1 known missense c.243 p.S81R 0.985 pfam_Syndecan/Neurexin_dom pfam_Syndecan/Neurexin_dom,smart_Neurexin-like - no_errors SDC2 HGNC ENSG00000169439 115 0 0 123 7 5.38462 C9orf84 0 genome.wustl.edu 37 9 114462251 114462251 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 9 114462251 114462251 C T SNP C9orf84 ENST00000318737 human ensembl 74_37 -1 known missense c.2974 p.E992K 1.000 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 145 0 0 121 20 14.1844 RGS3 0 genome.wustl.edu 37 9 116357901 116357901 + Silent SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 9 116357901 116357901 C T SNP RGS3 ENST00000350696 human ensembl 74_37 +1 known silent c.3267 p.A1089 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom pfam_RGS_dom,pfam_C2_dom,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_dom,superfamily_PDZ,smart_C2_dom,smart_PDZ,smart_Regulat_G_prot_signal_superfam,pfscan_C2_dom,pfscan_PDZ,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS3 HGNC ENSG00000138835 111 0 0 77 5 6.09756 SARDH 0 genome.wustl.edu 37 9 136596596 136596596 + Missense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 9 136596596 136596596 G A SNP SARDH ENST00000371872 human ensembl 74_37 -1 known missense c.521 p.A174V 0.980 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C - no_errors SARDH HGNC ENSG00000123453 82 0 0 53 5 8.62069 ADAMTSL1 0 genome.wustl.edu 37 9 18657714 18657714 + Silent SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 9 18657714 18657714 G A SNP ADAMTSL1 ENST00000327883 human ensembl 74_37 +1 known silent c.912 p.T304 0.799 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL1 HGNC ENSG00000178031 118 0 0 92 9 8.91089 UNC13B 0 genome.wustl.edu 37 9 35375189 35375189 + Silent SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 9 35375189 35375189 C T SNP UNC13B ENST00000378496 human ensembl 74_37 +1 known silent c.1359 p.D453 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 166 0 0 121 19 13.5714 MAGEH1 0 genome.wustl.edu 37 X 55478888 55478888 + Silent SNP C C G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 X 55478888 55478888 C G SNP MAGEH1 ENST00000342972 human ensembl 74_37 +1 known silent c.81 p.A27 0.924 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEH1 HGNC ENSG00000187601 21 0 0 12 4 25 TAF9B 0 genome.wustl.edu 37 X 77393257 77393257 + Missense_Mutation SNP A A T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 X 77393257 77393257 A T SNP TAF9B ENST00000341864 human ensembl 74_37 -1 known missense c.394 p.L132I 0.992 NULL pfam_TFIID-31,superfamily_Histone-fold - no_errors TAF9B HGNC ENSG00000187325 52 0 0 64 13 16.8831 ENSG00000232274 0 genome.wustl.edu 37 1 143210193 143210194 + RNA INS - - T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 1 143210193 143210194 - T INS ENSG00000232274 ENST00000412204 human ensembl 74_37 -1 known rna NULL NULL 0.007:0.007 - - - no_errors RP11-782C8.2 Clone_based_vega_gene ENSG00000232274 126 1 0.787402 137 8 5.51724 CLIP3 0 genome.wustl.edu 37 19 36515298 36515300 + In_Frame_Del DEL CTT CTT - TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 19 36515298 36515300 CTT - DEL CLIP3 ENST00000360535 human ensembl 74_37 -1 known in_frame_del c.918_916 p.K306in_frame_del 1.000:1.000:1.000 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP3 HGNC ENSG00000105270 47 0 0 42 8 16 OR2K2 0 genome.wustl.edu 37 9 114090513 114090514 + Frame_Shift_Del DEL AG AG - TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 9 114090513 114090514 AG - DEL OR2K2 ENST00000374428 human ensembl 74_37 -1 known frame_shift_del c.288_287 p.S96fs 0.922:0.996 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 OR2K2 HGNC ENSG00000171133 70 0 0 72 7 8.86076