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 CPSF3L 0 genome.wustl.edu 37 1 1247219 1247219 + RNA SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 1 1247219 1247219 G A SNP CPSF3L ENST00000462432 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CPSF3L HGNC ENSG00000127054 30 0 0 11 17 60.7143 SMG5 0 genome.wustl.edu 37 1 156235937 156235937 + Missense_Mutation SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 1 156235937 156235937 G A SNP SMG5 ENST00000361813 human ensembl 74_37 -1 known missense c.1490 p.S497F 0.994 NULL pfam_EST1,smart_PIN_dom - no_errors SMG5 HGNC ENSG00000198952 146 0 0 53 72 57.6 SPTA1 0 genome.wustl.edu 37 1 158651377 158651377 + Silent SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 1 158651377 158651377 G A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known silent c.471 p.A157 1.000 NULL 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 212 0 0 74 129 63.5468 ASAP3 0 genome.wustl.edu 37 1 23763702 23763702 + Silent SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 1 23763702 23763702 C T SNP ASAP3 ENST00000336689 human ensembl 74_37 -1 known silent c.1263 p.P421 0.956 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP3 HGNC ENSG00000088280 21 0 0 4 8 66.6667 COL9A2 0 genome.wustl.edu 37 1 40775783 40775783 + Silent SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 1 40775783 40775783 C T SNP COL9A2 ENST00000372748 human ensembl 74_37 -1 known silent c.792 p.P264 0.271 NULL pfam_Collagen - no_errors COL9A2 HGNC ENSG00000049089 159 0 0 69 69 50 PGR 0 genome.wustl.edu 37 11 100999115 100999115 + Silent SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 11 100999115 100999115 G A SNP PGR ENST00000325455 human ensembl 74_37 -1 known silent c.687 p.S229 0.760 pfam_Progest_rcpt 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 32 0 0 7 29 80.5556 DDX54 0 genome.wustl.edu 37 12 113603453 113603453 + Missense_Mutation SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 12 113603453 113603453 C T SNP DDX54 ENST00000314045 human ensembl 74_37 -1 known missense c.1715 p.R572Q 0.987 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DBP10CT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX54 HGNC ENSG00000123064 31 0 0 20 3 13.0435 HOXC11 0 genome.wustl.edu 37 12 54367430 54367430 + Silent SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 12 54367430 54367430 C T SNP HOXC11 ENST00000546378 human ensembl 74_37 +1 known silent c.405 p.A135 0.997 pfam_DUF3528 pfam_DUF3528,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXC11 HGNC ENSG00000123388 323 1 0.308642 115 138 54.5455 CEBPE 0 genome.wustl.edu 37 14 23587828 23587828 + Missense_Mutation SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 14 23587828 23587828 G A SNP CEBPE ENST00000206513 human ensembl 74_37 -1 known missense c.473 p.T158I 0.174 pirsf_CCAAT/enhancer-binding pfam_bZIP,smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP - no_errors CEBPE HGNC ENSG00000092067 46 0 0 10 26 72.2222 FOXG1 0 genome.wustl.edu 37 14 29237757 29237757 + Silent SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 14 29237757 29237757 G A SNP FOXG1 ENST00000313071 human ensembl 74_37 +1 known silent c.1272 p.P424 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXG1 HGNC ENSG00000176165 58 0 0 24 27 52.9412 SIPA1L1 0 genome.wustl.edu 37 14 72055091 72055091 + Missense_Mutation SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 14 72055091 72055091 C T SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.502 p.R168C 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 61 0 0 25 34 57.6271 DUOX1 0 genome.wustl.edu 37 15 45433241 45433241 + Missense_Mutation SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 15 45433241 45433241 G A SNP DUOX1 ENST00000321429 human ensembl 74_37 +1 known missense c.1538 p.R513H 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 174 1 0.571429 70 76 52.0548 ATP8B4 0 genome.wustl.edu 37 15 50189583 50189583 + Missense_Mutation SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 15 50189583 50189583 C T SNP ATP8B4 ENST00000284509 human ensembl 74_37 -1 known missense c.2603 p.R868Q 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B4 HGNC ENSG00000104043 338 0 0 117 161 57.9137 VPS13C 0 genome.wustl.edu 37 15 62237921 62237921 + Missense_Mutation SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 15 62237921 62237921 G A SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.5141 p.S1714F 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 153 0 0 50 50 50 IGDCC3 0 genome.wustl.edu 37 15 65621886 65621886 + Missense_Mutation SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 15 65621886 65621886 G A SNP IGDCC3 ENST00000327987 human ensembl 74_37 -1 known missense c.2047 p.P683S 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGDCC3 HGNC ENSG00000174498 98 0 0 99 8 7.47664 ISLR2 0 genome.wustl.edu 37 15 74425927 74425927 + Missense_Mutation SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 15 74425927 74425927 G A SNP ISLR2 ENST00000361742 human ensembl 74_37 +1 known missense c.832 p.G278S 0.475 pfscan_Ig-like_dom pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like_dom - no_errors ISLR2 HGNC ENSG00000167178 47 0 0 22 30 57.6923 DNAJA2 0 genome.wustl.edu 37 16 47005450 47005450 + Nonsense_Mutation SNP G G C TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 16 47005450 47005450 G C SNP DNAJA2 ENST00000317089 human ensembl 74_37 -1 known nonsense c.173 p.S58* 0.999 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain pfam_DnaJ_C,pfam_DnaJ_domain,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain - no_errors DNAJA2 HGNC ENSG00000069345 206 0 0 160 12 6.97674 SPG7 0 genome.wustl.edu 37 16 89611154 89611154 + Missense_Mutation SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 16 89611154 89611154 G A SNP SPG7 ENST00000268704 human ensembl 74_37 +1 known missense c.1423 p.V475I 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH - no_errors SPG7 HGNC ENSG00000197912 111 0 0 38 63 62.3762 TRIM16 0 genome.wustl.edu 37 17 15539380 15539380 + Silent SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 17 15539380 15539380 C T SNP TRIM16 ENST00000336708 human ensembl 74_37 -1 known silent c.819 p.A273 0.008 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin - no_errors TRIM16 HGNC ENSG00000221926 66 0 0 19 23 54.7619 TRIM16L 0 genome.wustl.edu 37 17 18631041 18631041 + Silent SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 17 18631041 18631041 G A SNP TRIM16L ENST00000395902 human ensembl 74_37 +1 known silent c.333 p.A111 0.636 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY - no_errors TRIM16L HGNC ENSG00000108448 155 0 0 124 8 6.06061 NPEPPS 0 genome.wustl.edu 37 17 45668182 45668182 + Missense_Mutation SNP T T C TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 17 45668182 45668182 T C SNP NPEPPS ENST00000322157 human ensembl 74_37 +1 known missense c.1195 p.F399L 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors NPEPPS HGNC ENSG00000141279 158 0 0 131 23 14.9351 PELP1 0 genome.wustl.edu 37 17 4576196 4576196 + Missense_Mutation SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 17 4576196 4576196 G A SNP PELP1 ENST00000301396 human ensembl 74_37 -1 known missense c.2522 p.S841L 0.276 NULL pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold - no_errors PELP1 HGNC ENSG00000141456 74 0 0 33 33 50 LAMA1 0 genome.wustl.edu 37 18 6974963 6974963 + Missense_Mutation SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 18 6974963 6974963 G A SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.6562 p.R2188C 0.542 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 54 0 0 18 32 64 ZNF490 0 genome.wustl.edu 37 19 12691634 12691634 + Missense_Mutation SNP C C G TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 19 12691634 12691634 C G SNP ZNF490 ENST00000311437 human ensembl 74_37 -1 known missense c.1255 p.E419Q 0.015 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 ZNF490 HGNC ENSG00000188033 142 0 0 42 66 61.1111 PTPRH 0 genome.wustl.edu 37 19 55697282 55697282 + Missense_Mutation SNP A A G TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 19 55697282 55697282 A G SNP PTPRH ENST00000376350 human ensembl 74_37 -1 known missense c.2849 p.V950A 0.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRH HGNC ENSG00000080031 152 0 0 64 49 43.3628 FIZ1 0 genome.wustl.edu 37 19 56108964 56108964 + Missense_Mutation SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 19 56108964 56108964 C T SNP FIZ1 ENST00000221665 human ensembl 74_37 -1 known missense c.268 p.D90N 0.192 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FIZ1 HGNC ENSG00000179943 49 0 0 30 6 16.6667 ZNF470 0 genome.wustl.edu 37 19 57088681 57088681 + Missense_Mutation SNP A A G TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 19 57088681 57088681 A G SNP ZNF470 ENST00000330619 human ensembl 74_37 +1 known missense c.884 p.Q295R 0.968 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF470 HGNC ENSG00000197016 91 0 0 40 41 50.6173 LRP1B 0 genome.wustl.edu 37 2 141299517 141299517 + Silent SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 2 141299517 141299517 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.7218 p.G2406 0.013 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 39 0 0 29 3 9.375 NEB 0 genome.wustl.edu 37 2 152486101 152486101 + Silent SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 2 152486101 152486101 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.9783 p.D3261 0.973 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 165 0 0 59 68 53.5433 NR4A2 0 genome.wustl.edu 37 2 157186116 157186116 + Missense_Mutation SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 2 157186116 157186116 C T SNP NR4A2 ENST00000539077 human ensembl 74_37 -1 known missense c.616 p.D206N 1.000 prints_NURR_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NURR_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors NR4A2 HGNC ENSG00000153234 155 1 0.641026 49 69 58.4746 ASNSD1 0 genome.wustl.edu 37 2 190532562 190532562 + Missense_Mutation SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 2 190532562 190532562 C T SNP ASNSD1 ENST00000260952 human ensembl 74_37 +1 known missense c.1537 p.H513Y 0.004 pfam_Asn_synthase pfam_Asn_synthase - no_errors ASNSD1 HGNC ENSG00000138381 114 0 0 75 12 13.7931 TEKT4 0 genome.wustl.edu 37 2 95539774 95539774 + Missense_Mutation SNP A A C TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 2 95539774 95539774 A C SNP TEKT4 ENST00000295201 human ensembl 74_37 +1 known missense c.634 p.I212L 0.966 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT4 HGNC ENSG00000163060 132 0 0 121 8 6.20155 NCOA6 0 genome.wustl.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 20 33345744 33345744 C T SNP NCOA6 ENST00000359003 human ensembl 74_37 -1 known silent c.807 p.Q269 0.002 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 67 0 0 99 7 6.60377 JPH2 0 genome.wustl.edu 37 20 42789015 42789015 + Missense_Mutation SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 20 42789015 42789015 G A SNP JPH2 ENST00000372980 human ensembl 74_37 -1 known missense c.412 p.R138C 1.000 pfam_MORN,smart_MORN,pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH2 HGNC ENSG00000149596 22 0 0 30 2 6.25 SERINC3 0 genome.wustl.edu 37 20 43135528 43135528 + Missense_Mutation SNP G G C TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 20 43135528 43135528 G C SNP SERINC3 ENST00000255175 human ensembl 74_37 -1 known missense c.723 p.I241M 1.000 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC3 HGNC ENSG00000132824 73 0 0 56 24 30 BCAS1 0 genome.wustl.edu 37 20 52645436 52645436 + Missense_Mutation SNP G G T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 20 52645436 52645436 G T SNP BCAS1 ENST00000371440 human ensembl 74_37 -1 known missense c.218 p.A73E 0.005 NULL NULL - no_errors BCAS1 HGNC ENSG00000064787 83 0 0 46 29 38.6667 ZNF831 0 genome.wustl.edu 37 20 57767259 57767259 + Silent SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 20 57767259 57767259 C T SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel silent c.1185 p.A395 0.005 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 15 0 0 15 4 21.0526 DSCR10 0 genome.wustl.edu 37 21 39580375 39580375 + RNA SNP T T A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 21 39580375 39580375 T A SNP DSCR10 ENST00000432141 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DSCR10 HGNC ENSG00000233316 212 0 0 96 118 55.1402 TRIOBP 0 genome.wustl.edu 37 22 38130723 38130723 + Nonsense_Mutation SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 22 38130723 38130723 G A SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known nonsense c.4380 p.W1460* 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 19 0 0 6 8 57.1429 XRCC6 0 genome.wustl.edu 37 22 42033616 42033616 + Silent SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 22 42033616 42033616 C T SNP XRCC6 ENST00000359308 human ensembl 74_37 +1 known silent c.594 p.I198 1.000 pirsf_Ku70,pfam_Ku_N,tigrfam_Ku70 pirsf_Ku70,pfam_Ku_N,pfam_Ku70/Ku80_beta-barrel_dom,pfam_Ku_C,pfam_SAP_dom,superfamily_SPOC_like_C_dom,smart_Ku70/Ku80_beta-barrel_dom,smart_SAP_dom,pfscan_SAP_dom,tigrfam_Ku70 - no_errors XRCC6 HGNC ENSG00000196419 25 0 0 7 9 56.25 KIAA1524 0 genome.wustl.edu 37 3 108273290 108273290 + Missense_Mutation SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 3 108273290 108273290 C T SNP KIAA1524 ENST00000295746 human ensembl 74_37 -1 known missense c.2257 p.D753N 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1524 HGNC ENSG00000163507 24 0 0 13 3 18.75 TRANK1 0 genome.wustl.edu 37 3 36869827 36869827 + Missense_Mutation SNP T T A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 3 36869827 36869827 T A SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.8717 p.D2906V 1.000 NULL pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 34 0 0 15 21 58.3333 SCN10A 0 genome.wustl.edu 37 3 38739967 38739967 + Missense_Mutation SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 3 38739967 38739967 G A SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.4744 p.R1582C 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 96 0 0 44 52 54.1667 MSANTD1 0 genome.wustl.edu 37 4 3251150 3251150 + Missense_Mutation SNP G G C TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 4 3251150 3251150 G C SNP MSANTD1 ENST00000438480 human ensembl 74_37 +1 known missense c.201 p.Q67H 1.000 NULL NULL - no_errors MSANTD1 HGNC ENSG00000188981 31 0 0 10 11 52.381 GRID2 0 genome.wustl.edu 37 4 94344119 94344119 + Silent SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 4 94344119 94344119 G A SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known silent c.1545 p.K515 1.000 pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_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 GRID2 HGNC ENSG00000152208 39 0 0 13 23 63.8889 ADCY2 0 genome.wustl.edu 37 5 7695884 7695884 + Missense_Mutation SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 5 7695884 7695884 G A SNP ADCY2 ENST00000338316 human ensembl 74_37 +1 known missense c.889 p.V297I 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 50 0 0 23 18 43.9024 CDC5L 0 genome.wustl.edu 37 6 44392169 44392169 + Missense_Mutation SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 6 44392169 44392169 G A SNP CDC5L ENST00000371477 human ensembl 74_37 +1 known missense c.1418 p.R473Q 1.000 pfam_DUF3351 pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors CDC5L HGNC ENSG00000096401 89 0 0 31 40 56.338 ORC5 0 genome.wustl.edu 37 7 103848384 103848384 + RNA SNP G G A TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 7 103848384 103848384 G A SNP ORC5 ENST00000485726 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors ORC5 HGNC ENSG00000164815 59 0 0 47 38 44.7059 C7orf33 0 genome.wustl.edu 37 7 148311189 148311189 + Missense_Mutation SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 7 148311189 148311189 C T SNP C7orf33 ENST00000307003 human ensembl 74_37 +1 known missense c.260 p.S87L 0.089 NULL NULL - no_errors C7orf33 HGNC ENSG00000170279 96 0 0 128 16 11.1111 LANCL2 0 genome.wustl.edu 37 7 55492979 55492979 + Silent SNP C C G TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 7 55492979 55492979 C G SNP LANCL2 ENST00000254770 human ensembl 74_37 +1 known silent c.1041 p.A347 0.597 pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like - no_errors LANCL2 HGNC ENSG00000132434 120 0 0 95 36 27.4809 AKAP9 0 genome.wustl.edu 37 7 91682266 91682266 + Silent SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 7 91682266 91682266 C T SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known silent c.5631 p.S1877 0.728 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 34 0 0 21 13 38.2353 GPR124 0 genome.wustl.edu 37 8 37691340 37691340 + Silent SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 8 37691340 37691340 C T SNP GPR124 ENST00000412232 human ensembl 74_37 +1 known silent c.1431 p.V477 0.227 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR124 HGNC ENSG00000020181 100 0 0 40 59 59.596 NBN 0 genome.wustl.edu 37 8 90965531 90965531 + Missense_Mutation SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 8 90965531 90965531 C T SNP NBN ENST00000265433 human ensembl 74_37 -1 known missense c.1786 p.D596N 0.001 pirsf_Nibrin_met pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom - no_errors NBN HGNC ENSG00000104320 220 0 0 58 162 73.6364 ZBTB43 0 genome.wustl.edu 37 9 129594921 129594921 + Missense_Mutation SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 9 129594921 129594921 C T SNP ZBTB43 ENST00000373457 human ensembl 74_37 +1 known missense c.133 p.R45W 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB43 HGNC ENSG00000169155 85 0 0 29 48 62.3377 TLN1 0 genome.wustl.edu 37 9 35714789 35714789 + Missense_Mutation SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 9 35714789 35714789 C T SNP TLN1 ENST00000314888 human ensembl 74_37 -1 known missense c.2839 p.G947S 1.000 NULL pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN1 HGNC ENSG00000137076 168 0 0 50 74 59.6774 ZNF658 0 genome.wustl.edu 37 9 40772474 40772474 + Missense_Mutation SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 9 40772474 40772474 C T SNP ZNF658 ENST00000377626 human ensembl 74_37 -1 known missense c.2801 p.G934E 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF658 HGNC ENSG00000196409 293 0 0 100 130 56.5217 HCFC1 0 genome.wustl.edu 37 X 153225353 153225353 + Silent SNP C C T TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d X 153225353 153225353 C T SNP HCFC1 ENST00000310441 human ensembl 74_37 -1 known silent c.1344 p.L448 1.000 smart_Fibronectin_type3 pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 51 0 0 22 66 75 MUC6 0 genome.wustl.edu 37 11 1016198 1016200 + In_Frame_Del DEL AGA AGA - TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 11 1016198 1016200 AGA - DEL MUC6 ENST00000421673 human ensembl 74_37 -1 known in_frame_del c.6603_6601 p.S2201in_frame_del 0.001:0.010:0.003 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 36 0 0 11 9 45 GRID2 0 genome.wustl.edu 37 4 94344114 94344114 + Frame_Shift_Del DEL T T - TCGA-BR-6801-01A-11D-1882-08 TCGA-BR-6801-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cee38c82-b415-4da9-adfe-664814ddbfd3 35f087a6-294f-42a2-a031-dc3109fe692d 4 94344114 94344114 T - DEL GRID2 ENST00000282020 human ensembl 74_37 +1 known frame_shift_del c.1540 p.F514fs 0.987 pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_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 GRID2 HGNC ENSG00000152208 51 0 0 20 20 50