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 SLC25A44 0 genome.wustl.edu 37 1 156170060 156170060 + Missense_Mutation SNP G G A TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 1 156170060 156170060 G A SNP SLC25A44 ENST00000359511 human ensembl 74_37 +1 known missense c.422 p.R141H 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,prints_Mit_carrier - no_errors SLC25A44 HGNC ENSG00000160785 72 0 0 62 4 6.06061 RCSD1 0 genome.wustl.edu 37 1 167666869 167666869 + Silent SNP A A C TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 1 167666869 167666869 A C SNP RCSD1 ENST00000367854 human ensembl 74_37 +1 known silent c.1008 p.T336 0.000 NULL pfam_RCSD - no_errors RCSD1 HGNC ENSG00000198771 19 0 0 17 5 22.7273 HMCN1 0 genome.wustl.edu 37 1 186107009 186107009 + Missense_Mutation SNP C C T TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 1 186107009 186107009 C T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.13829 p.T4610I 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 157 0 0 79 25 24.0385 EYA3 0 genome.wustl.edu 37 1 28339654 28339654 + Missense_Mutation SNP G G A TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 1 28339654 28339654 G A SNP EYA3 ENST00000373871 human ensembl 74_37 -1 known missense c.737 p.A246V 0.884 NULL pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA3 HGNC ENSG00000158161 194 0 0 68 29 29.8969 ST8SIA6 0 genome.wustl.edu 37 10 17365124 17365124 + Missense_Mutation SNP C C T TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 10 17365124 17365124 C T SNP ST8SIA6 ENST00000377602 human ensembl 74_37 -1 known missense c.668 p.S223N 0.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA6 HGNC ENSG00000148488 109 0 0 9 17 65.3846 PRKCQ 0 genome.wustl.edu 37 10 6525445 6525445 + Missense_Mutation SNP T T C TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 10 6525445 6525445 T C SNP PRKCQ ENST00000263125 human ensembl 74_37 -1 known missense c.1136 p.D379G 1.000 superfamily_Kinase-like_dom,pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKCQ HGNC ENSG00000065675 199 0 0 36 33 47.8261 SORL1 0 genome.wustl.edu 37 11 121461593 121461593 + Missense_Mutation SNP G G C TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 11 121461593 121461593 G C SNP SORL1 ENST00000527934 human ensembl 74_37 +1 putative missense c.45 p.W15C 0.001 NULL pfam_Fibronectin_type3,pfam_LDrepeatLR_classA_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,prints_LDrepeatLR_classA_rpt,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 136 0 0 53 5 8.62069 KCNJ11 0 genome.wustl.edu 37 11 17408516 17408516 + Missense_Mutation SNP T T C TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 11 17408516 17408516 T C SNP KCNJ11 ENST00000339994 human ensembl 74_37 -1 known missense c.1123 p.M375V 0.007 pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.2 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.2 - no_errors KCNJ11 HGNC ENSG00000187486 100 0 0 64 8 11.1111 OR4C11 0 genome.wustl.edu 37 11 55371381 55371381 + Nonsense_Mutation SNP G G A TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 11 55371381 55371381 G A SNP OR4C11 ENST00000302231 human ensembl 74_37 -1 known nonsense c.469 p.Q157* 0.922 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C11 HGNC ENSG00000172188 44 0 0 15 6 28.5714 CD6 0 genome.wustl.edu 37 11 60777073 60777073 + Missense_Mutation SNP G G A TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 11 60777073 60777073 G A SNP CD6 ENST00000313421 human ensembl 74_37 +1 known missense c.811 p.A271T 0.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD6 HGNC ENSG00000013725 71 0 0 36 4 10 GRM5 0 genome.wustl.edu 37 11 88300437 88300437 + Nonsense_Mutation SNP G G T TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 11 88300437 88300437 G T SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known nonsense c.2414 p.S805* 0.998 pfam_GPCR_3_C,prints_GPCR_3_mtglu_rcpt,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 145 0 0 61 4 6.15385 NOP2 0 genome.wustl.edu 37 12 6675951 6675951 + Silent SNP A A G TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 12 6675951 6675951 A G SNP NOP2 ENST00000322166 human ensembl 74_37 -1 known silent c.141 p.A47 0.614 NULL pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p - no_errors NOP2 HGNC ENSG00000111641 23 0 0 16 4 20 TDRD9 0 genome.wustl.edu 37 14 104481153 104481153 + Missense_Mutation SNP T T C TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 14 104481153 104481153 T C SNP TDRD9 ENST00000409874 human ensembl 74_37 +1 known missense c.2198 p.I733T 0.000 NULL pfam_Helicase-assoc_dom,pfam_Tudor,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,smart_Tudor,pfscan_Tudor,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TDRD9 HGNC ENSG00000156414 95 0 0 54 4 6.89655 PRKD1 0 genome.wustl.edu 37 14 30066697 30066697 + Missense_Mutation SNP C C A TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 14 30066697 30066697 C A SNP PRKD1 ENST00000331968 human ensembl 74_37 -1 known missense c.2434 p.A812S 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 123 0 0 40 12 23.0769 PAX9 0 genome.wustl.edu 37 14 37132197 37132197 + Nonsense_Mutation SNP C C T TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 14 37132197 37132197 C T SNP PAX9 ENST00000361487 human ensembl 74_37 +1 known nonsense c.100 p.Q34* 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX9 HGNC ENSG00000198807 87 0 0 70 18 20.4545 KCNK13 0 genome.wustl.edu 37 14 90651085 90651085 + Missense_Mutation SNP G G A TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 14 90651085 90651085 G A SNP KCNK13 ENST00000282146 human ensembl 74_37 +1 known missense c.965 p.R322H 0.263 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK13 HGNC ENSG00000152315 123 0 0 100 39 28.0576 DNM1P46 0 genome.wustl.edu 37 15 100339984 100339984 + RNA SNP G G C TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 15 100339984 100339984 G C SNP DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DNM1P46 HGNC ENSG00000182397 33 0 0 22 5 18.5185 MYEF2 0 genome.wustl.edu 37 15 48441243 48441243 + Missense_Mutation SNP T T A TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 15 48441243 48441243 T A SNP MYEF2 ENST00000324324 human ensembl 74_37 -1 known missense c.1625 p.K542I 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MYEF2 HGNC ENSG00000104177 153 0 0 53 20 27.3973 THSD4 0 genome.wustl.edu 37 15 72040794 72040794 + Missense_Mutation SNP G G A TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 15 72040794 72040794 G A SNP THSD4 ENST00000261862 human ensembl 74_37 +1 known missense c.2276 p.R759H 0.999 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors THSD4 HGNC ENSG00000187720 91 0 0 42 17 28.8136 SCAMP5 0 genome.wustl.edu 37 15 75308977 75308977 + Silent SNP G G A TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 15 75308977 75308977 G A SNP SCAMP5 ENST00000562212 human ensembl 74_37 +1 known silent c.180 p.A60 1.000 pfam_SCAMP pfam_SCAMP - no_errors SCAMP5 HGNC ENSG00000198794 119 0 0 86 30 25.8621 CHRNB4 0 genome.wustl.edu 37 15 78921738 78921738 + Missense_Mutation SNP C C T TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 15 78921738 78921738 C T SNP CHRNB4 ENST00000261751 human ensembl 74_37 -1 known missense c.909 p.M303I 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB4 HGNC ENSG00000117971 91 0 0 65 22 25.2874 ZSCAN2 0 genome.wustl.edu 37 15 85164300 85164300 + Missense_Mutation SNP A A C TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 15 85164300 85164300 A C SNP ZSCAN2 ENST00000448803 human ensembl 74_37 +1 known missense c.874 p.N292H 0.411 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN2 HGNC ENSG00000176371 93 0 0 43 12 21.8182 ITGAM 0 genome.wustl.edu 37 16 31283290 31283290 + Silent SNP G G A TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 16 31283290 31283290 G A SNP ITGAM ENST00000544665 human ensembl 74_37 +1 known silent c.681 p.T227 0.042 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAM HGNC ENSG00000169896 173 0 0 81 28 25.6881 HYDIN 0 genome.wustl.edu 37 16 71218824 71218824 + Missense_Mutation SNP T T G TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 16 71218824 71218824 T G SNP HYDIN ENST00000448089 human ensembl 74_37 -1 known missense c.205 p.M69L 0.984 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 140 0 0 62 6 8.82353 TNFRSF13B 0 genome.wustl.edu 37 17 16852283 16852283 + Missense_Mutation SNP G G A TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 17 16852283 16852283 G A SNP TNFRSF13B ENST00000261652 human ensembl 74_37 -1 known missense c.214 p.R72C 0.774 pfam_TACI_Cys-rich-dom,prints_TNFR_13B pfam_TACI_Cys-rich-dom,prints_TNFR_13B - no_errors TNFRSF13B HGNC ENSG00000240505 120 0 0 57 7 10.9375 NEK8 0 genome.wustl.edu 37 17 27062001 27062001 + Silent SNP C C T TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 17 27062001 27062001 C T SNP NEK8 ENST00000268766 human ensembl 74_37 +1 known silent c.465 p.S155 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_RCC1/BLIP-II,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK8 HGNC ENSG00000160602 152 0 0 73 23 23.9583 FAM117A 0 genome.wustl.edu 37 17 47788765 47788765 + Missense_Mutation SNP G G C TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 17 47788765 47788765 G C SNP FAM117A ENST00000240364 human ensembl 74_37 -1 known missense c.1214 p.P405R 0.993 NULL NULL - no_errors FAM117A HGNC ENSG00000121104 67 0 0 24 29 54.717 POTEC 0 genome.wustl.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 18 14513764 14513764 C T SNP POTEC ENST00000358970 human ensembl 74_37 -1 known missense c.1430 p.R477Q 0.121 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEC HGNC ENSG00000183206 54 0 0 25 3 10.7143 USHBP1 0 genome.wustl.edu 37 19 17361064 17361064 + Silent SNP C C T TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 19 17361064 17361064 C T SNP USHBP1 ENST00000252597 human ensembl 74_37 -1 known silent c.2082 p.P694 0.000 NULL pfam_USH1C-bd_PDZ_domain - no_errors USHBP1 HGNC ENSG00000130307 37 0 0 29 7 19.4444 GMIP 0 genome.wustl.edu 37 19 19746378 19746378 + Missense_Mutation SNP T T G TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 19 19746378 19746378 T G SNP GMIP ENST00000203556 human ensembl 74_37 -1 known missense c.1406 p.D469A 0.997 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors GMIP HGNC ENSG00000089639 116 1 0.854701 71 45 38.7931 LRP1B 0 genome.wustl.edu 37 2 141128795 141128795 + Missense_Mutation SNP A A G TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 2 141128795 141128795 A G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.10828 p.S3610P 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 49 0 0 4 4 50 SCN1A 0 genome.wustl.edu 37 2 166900312 166900312 + Missense_Mutation SNP G G A TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 2 166900312 166900312 G A SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.1910 p.A637V 0.665 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 88 0 0 53 22 29.3333 PPIG 0 genome.wustl.edu 37 2 170493840 170493840 + Missense_Mutation SNP A A G TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 2 170493840 170493840 A G SNP PPIG ENST00000260970 human ensembl 74_37 +1 known missense c.2072 p.K691R 1.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIG HGNC ENSG00000138398 69 0 0 27 4 12.9032 STAT1 0 genome.wustl.edu 37 2 191851578 191851578 + Splice_Site SNP A A G TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 2 191851578 191851578 A G SNP STAT1 ENST00000361099 human ensembl 74_37 -1 known splice_site c.1221+2 e12+2 1.000 - - - no_errors STAT1 HGNC ENSG00000115415 314 0 0 215 15 6.52174 DNPEP 0 genome.wustl.edu 37 2 220251022 220251022 + Missense_Mutation SNP G G A TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 2 220251022 220251022 G A SNP DNPEP ENST00000273075 human ensembl 74_37 -1 known missense c.445 p.R149C 1.000 pfam_Peptidase_M18,prints_Peptidase_M18 pfam_Peptidase_M18,pfam_Peptidase_M42,prints_Peptidase_M18 - no_errors DNPEP HGNC ENSG00000123992 181 0 0 105 27 20.4545 STRN 0 genome.wustl.edu 37 2 37082457 37082457 + Missense_Mutation SNP C C T TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 2 37082457 37082457 C T SNP STRN ENST00000263918 human ensembl 74_37 -1 known missense c.1876 p.D626N 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors STRN HGNC ENSG00000115808 66 0 0 24 11 31.4286 SNRNP200 0 genome.wustl.edu 37 2 96950142 96950142 + Missense_Mutation SNP T T C TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 2 96950142 96950142 T C SNP SNRNP200 ENST00000323853 human ensembl 74_37 -1 known missense c.4346 p.N1449S 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 112 0 0 55 23 29.4872 KCNB1 0 genome.wustl.edu 37 20 47990303 47990303 + Silent SNP G G A TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 20 47990303 47990303 G A SNP KCNB1 ENST00000371741 human ensembl 74_37 -1 known silent c.1794 p.F598 1.000 pfam_K_chnl_volt-dep_Kv2 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB1 HGNC ENSG00000158445 78 0 0 41 40 49.3827 KCNB1 0 genome.wustl.edu 37 20 47990462 47990462 + Silent SNP G G C TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 20 47990462 47990462 G C SNP KCNB1 ENST00000371741 human ensembl 74_37 -1 known silent c.1635 p.L545 1.000 pfam_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv2.1 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB1 HGNC ENSG00000158445 243 0 0 117 106 47.5336 MYT1 0 genome.wustl.edu 37 20 62850293 62850293 + Missense_Mutation SNP G G T TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 20 62850293 62850293 G T SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known missense c.1957 p.A653S 1.000 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 132 0 0 282 33 10.4762 COL6A1 0 genome.wustl.edu 37 21 47404200 47404200 + Missense_Mutation SNP G G A TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 21 47404200 47404200 G A SNP COL6A1 ENST00000361866 human ensembl 74_37 +1 known missense c.245 p.R82Q 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC ENSG00000142156 31 0 0 28 3 9.67742 STAG1 0 genome.wustl.edu 37 3 136096591 136096591 + Missense_Mutation SNP C C T TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 3 136096591 136096591 C T SNP STAG1 ENST00000383202 human ensembl 74_37 -1 known missense c.2281 p.D761N 1.000 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 90 0 0 11 19 63.3333 WDR6 0 genome.wustl.edu 37 3 49051915 49051915 + Silent SNP G G A TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 3 49051915 49051915 G A SNP WDR6 ENST00000395474 human ensembl 74_37 +1 known silent c.2856 p.E952 0.737 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ENSG00000178252 192 0 0 39 41 51.25 ADD1 0 genome.wustl.edu 37 4 2896323 2896323 + Silent SNP A A G TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 4 2896323 2896323 A G SNP ADD1 ENST00000264758 human ensembl 74_37 +1 known silent c.606 p.L202 0.001 pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD1 HGNC ENSG00000087274 66 0 0 34 5 12.8205 IL13 0 genome.wustl.edu 37 5 131995159 131995159 + Missense_Mutation SNP G G A TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 5 131995159 131995159 G A SNP IL13 ENST00000304506 human ensembl 74_37 +1 known missense c.224 p.G75D 0.000 superfamily_4_helix_cytokine-like_core,smart_IL-4/IL-13,prints_IL-13 pfam_IL-13,superfamily_4_helix_cytokine-like_core,smart_IL-4/IL-13,prints_IL-13 - no_errors IL13 HGNC ENSG00000169194 24 0 0 12 3 20 TMEM173 0 genome.wustl.edu 37 5 138860868 138860868 + Missense_Mutation SNP C C T TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 5 138860868 138860868 C T SNP TMEM173 ENST00000330794 human ensembl 74_37 -1 known missense c.287 p.G96E 0.080 NULL NULL - no_errors TMEM173 HGNC ENSG00000184584 99 0 0 57 4 6.55738 PKHD1 0 genome.wustl.edu 37 6 51900507 51900507 + Missense_Mutation SNP G G T TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 6 51900507 51900507 G T SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.3110 p.A1037D 0.998 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 109 0 0 31 8 20.5128 SND1 0 genome.wustl.edu 37 7 127326707 127326707 + Missense_Mutation SNP G G T TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 7 127326707 127326707 G T SNP SND1 ENST00000354725 human ensembl 74_37 +1 known missense c.119 p.R40L 1.000 superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococal_nuclease_OB-fold pfam_Staphylococal_nuclease_OB-fold,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococal_nuclease_OB-fold - no_errors SND1 HGNC ENSG00000197157 113 0 0 79 25 24.0385 OR2A12 0 genome.wustl.edu 37 7 143792959 143792959 + Silent SNP C C T TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 7 143792959 143792959 C T SNP OR2A12 ENST00000408949 human ensembl 74_37 +1 known silent c.759 p.S253 0.978 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A12 HGNC ENSG00000221858 288 0 0 205 18 8.07175 STEAP1B 0 genome.wustl.edu 37 7 22534434 22534434 + Nonsense_Mutation SNP C C T TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 7 22534434 22534434 C T SNP STEAP1B ENST00000406890 human ensembl 74_37 -1 known nonsense c.41 p.W14* 0.999 NULL pfam_Fe3_Rdtase_TM_dom - no_errors STEAP1B HGNC ENSG00000105889 76 0 0 21 2 8.69565 HOXA6 0 genome.wustl.edu 37 7 27185319 27185319 + Silent SNP C C T TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 7 27185319 27185319 C T SNP HOXA6 ENST00000222728 human ensembl 74_37 -1 known silent c.660 p.T220 0.770 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA6 HGNC ENSG00000106006 198 0 0 134 14 9.45946 CARD11 0 genome.wustl.edu 37 7 2956965 2956965 + Missense_Mutation SNP G G A TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 7 2956965 2956965 G A SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known missense c.2662 p.R888C 1.000 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 34 0 0 18 9 33.3333 GTF2IRD1 0 genome.wustl.edu 37 7 73922530 73922530 + Silent SNP C C A TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 7 73922530 73922530 C A SNP GTF2IRD1 ENST00000265755 human ensembl 74_37 +1 known silent c.120 p.S40 1.000 pirsf_TF_II-I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2IRD1 HGNC ENSG00000006704 103 0 0 98 30 23.4375 GTF2IRD1 0 genome.wustl.edu 37 7 73933930 73933930 + Missense_Mutation SNP C C T TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 7 73933930 73933930 C T SNP GTF2IRD1 ENST00000265755 human ensembl 74_37 +1 known missense c.797 p.A266V 0.004 pirsf_TF_II-I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2IRD1 HGNC ENSG00000006704 68 0 0 90 30 25 PCLO 0 genome.wustl.edu 37 7 82582618 82582618 + Missense_Mutation SNP C C T TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 7 82582618 82582618 C T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.7651 p.D2551N 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 123 0 0 52 12 18.75 AKAP9 0 genome.wustl.edu 37 7 91709233 91709233 + Missense_Mutation SNP G G C TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 7 91709233 91709233 G C SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.7822 p.E2608Q 0.003 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 96 0 0 23 12 34.2857 ZNF3 0 genome.wustl.edu 37 7 99672845 99672845 + Missense_Mutation SNP G G A TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 7 99672845 99672845 G A SNP ZNF3 ENST00000299667 human ensembl 74_37 -1 known missense c.184 p.R62W 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF3 HGNC ENSG00000166526 202 0 0 95 35 26.9231 ORM1 0 genome.wustl.edu 37 9 117087068 117087068 + Splice_Site SNP A A T TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 9 117087068 117087068 A T SNP ORM1 ENST00000259396 human ensembl 74_37 +1 known splice_site c.329-2 e4-2 0.396 - - - no_errors ORM1 HGNC ENSG00000229314 61 0 0 27 14 34.1463 SARDH 0 genome.wustl.edu 37 9 136531865 136531865 + Missense_Mutation SNP C C T TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 9 136531865 136531865 C T SNP SARDH ENST00000371872 human ensembl 74_37 -1 known missense c.2623 p.G875S 0.997 NULL pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C - no_errors SARDH HGNC ENSG00000123453 12 0 0 10 4 28.5714 BNC2 0 genome.wustl.edu 37 9 16436952 16436952 + Missense_Mutation SNP G G C TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 9 16436952 16436952 G C SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known missense c.1240 p.L414V 0.712 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 87 0 0 25 3 10.7143 ARHGAP6 0 genome.wustl.edu 37 X 11157185 11157185 + Missense_Mutation SNP G G A TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f X 11157185 11157185 G A SNP ARHGAP6 ENST00000337414 human ensembl 74_37 -1 known missense c.2723 p.T908M 0.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 32 0 0 18 8 30.7692 PGRMC1 0 genome.wustl.edu 37 X 118370534 118370534 + Missense_Mutation SNP C C T TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f X 118370534 118370534 C T SNP PGRMC1 ENST00000217971 human ensembl 74_37 +1 known missense c.208 p.R70W 1.000 superfamily_Cyt_B5-like_heme/steroid-bd pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd - no_errors PGRMC1 HGNC ENSG00000101856 35 0 0 73 10 12.0482 UPF3B 0 genome.wustl.edu 37 X 118972014 118972014 + Silent SNP T T C TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f X 118972014 118972014 T C SNP UPF3B ENST00000276201 human ensembl 74_37 -1 known silent c.1008 p.R336 0.789 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3B HGNC ENSG00000125351 177 0 0 180 11 5.75916 TENM1 0 genome.wustl.edu 37 X 123556374 123556374 + Missense_Mutation SNP C C T TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f X 123556374 123556374 C T SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.4219 p.A1407T 0.967 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 151 0 0 100 46 31.5068 GPC4 0 genome.wustl.edu 37 X 132548987 132548987 + Missense_Mutation SNP G G A TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f X 132548987 132548987 G A SNP GPC4 ENST00000370828 human ensembl 74_37 -1 known missense c.7 p.R3W 0.994 NULL pfam_Glypican - no_errors GPC4 HGNC ENSG00000076716 68 0 0 91 10 9.90099 MTM1 0 genome.wustl.edu 37 X 149787547 149787547 + Missense_Mutation SNP G G T TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f X 149787547 149787547 G T SNP MTM1 ENST00000370396 human ensembl 74_37 +1 known missense c.379 p.G127C 1.000 NULL pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors MTM1 HGNC ENSG00000171100 99 0 0 90 9 9.09091 ATP6AP2 0 genome.wustl.edu 37 X 40450529 40450529 + Missense_Mutation SNP G G A TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f X 40450529 40450529 G A SNP ATP6AP2 ENST00000378438 human ensembl 74_37 +1 known missense c.212 p.R71H 1.000 NULL pfam_Renin_rcpt - no_errors ATP6AP2 HGNC ENSG00000182220 124 1 0.8 94 14 12.963 CHST7 0 genome.wustl.edu 37 X 46433919 46433919 + Missense_Mutation SNP G G A TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f X 46433919 46433919 G A SNP CHST7 ENST00000276055 human ensembl 74_37 +1 known missense c.553 p.A185T 0.602 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST7 HGNC ENSG00000147119 38 0 0 47 15 24.1935 HEPH 0 genome.wustl.edu 37 X 65392442 65392442 + Splice_Site SNP G G A TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f X 65392442 65392442 G A SNP HEPH ENST00000519389 human ensembl 74_37 +1 known splice_site c.574+1 e3+1 1.000 - - - no_errors HEPH HGNC ENSG00000089472 172 0 0 127 22 14.7651 PCDH11X 0 genome.wustl.edu 37 X 91873740 91873740 + Missense_Mutation SNP G G C TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f X 91873740 91873740 G C SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known missense c.3845 p.W1282S 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 444 0 0 339 24 6.61157 CEND1 0 genome.wustl.edu 37 11 788451 788453 + In_Frame_Del DEL CTT CTT - TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 11 788451 788453 CTT - DEL CEND1 ENST00000330106 human ensembl 74_37 -1 known in_frame_del c.126_124 p.K42in_frame_del 0.998:1.000:1.000 NULL NULL - no_errors CEND1 HGNC ENSG00000184524 192 0 0 116 36 23.6842 POLDIP2 0 genome.wustl.edu 37 17 26684394 26684395 + Splice_Site INS - - G TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 17 26684394 26684395 - G INS POLDIP2 ENST00000540200 human ensembl 74_37 -1 known splice_site_ins c.78+1_78+1 e1+1 0.018:0.002 - - - no_errors POLDIP2 HGNC ENSG00000004142 9 0 0 5 2 28.5714 TP53 0 genome.wustl.edu 37 17 7579395 7579396 + Frame_Shift_Ins INS - - C TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 17 7579395 7579396 - C INS TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_ins c.292_291 p.P97fs 1.000:1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 130 0 0 53 52 49.5238 FAM98C 0 genome.wustl.edu 37 19 38899502 38899504 + In_Frame_Del DEL AAG AAG - TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 19 38899502 38899504 AAG - DEL FAM98C ENST00000252530 human ensembl 74_37 +1 known in_frame_del c.1030_1032 p.K347in_frame_del 0.830:0.873:0.987 NULL pfam_Uncharacterised_FAM98 - no_errors FAM98C HGNC ENSG00000130244 101 0 0 104 6 5.45455 UBR5 0 genome.wustl.edu 37 8 103284920 103284921 + Frame_Shift_Ins INS - - TA TCGA-BR-8486-01A-31D-2394-08 TCGA-BR-8486-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a7cdaf6-211e-4eb8-a70e-1153d69c45e4 0fa8cee4-2d26-4caf-9da2-96047854f29f 8 103284920 103284921 - TA INS UBR5 ENST00000520539 human ensembl 74_37 -1 known frame_shift_ins c.6810_6809 p.P2271fs 0.725:1.000 superfamily_HECT pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 86 0 0 35 10 22.2222