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 ATXN7L2 0 genome.wustl.edu 37 1 110031590 110031590 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 110031590 110031590 G A SNP ATXN7L2 ENST00000369870 human ensembl 74_37 +1 known missense c.905 p.R302H 1.000 NULL pfam_SCA7_dom - no_errors ATXN7L2 HGNC ENSG00000162650 24 0 0 35 4 10.2564 AHCYL1 0 genome.wustl.edu 37 1 110559020 110559020 + Silent SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 110559020 110559020 T C SNP AHCYL1 ENST00000369799 human ensembl 74_37 +1 known silent c.837 p.N279 1.000 pfam_Adenosylhomocysteinase,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase - no_errors AHCYL1 HGNC ENSG00000168710 85 0 0 73 5 6.41026 WARS2 0 genome.wustl.edu 37 1 119575742 119575742 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 119575742 119575742 C T SNP WARS2 ENST00000235521 human ensembl 74_37 -1 known missense c.875 p.R292H 0.379 pfam_aa-tRNA-synth_Ic,tigrfam_Trp-tRNA-ligase pfam_aa-tRNA-synth_Ic,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase - no_errors WARS2 HGNC ENSG00000116874 77 0 0 79 13 14.1304 HAO2 0 genome.wustl.edu 37 1 119925649 119925649 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 119925649 119925649 C T SNP HAO2 ENST00000361035 human ensembl 74_37 +1 known silent c.282 p.H94 0.184 pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN pfam_FMN-dep_DH,pfam_IMP_DH_GMPRt,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN - no_errors HAO2 HGNC ENSG00000116882 22 0 0 28 2 6.66667 SCNN1D 0 genome.wustl.edu 37 1 1222953 1222953 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 1222953 1222953 C T SNP SCNN1D ENST00000379116 human ensembl 74_37 +1 known missense c.1376 p.A459V 0.002 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1D HGNC ENSG00000162572 62 0 0 54 23 29.8701 AADACL3 0 genome.wustl.edu 37 1 12779678 12779678 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 12779678 12779678 G A SNP AADACL3 ENST00000359318 human ensembl 74_37 +1 known missense c.199 p.V67I 0.000 pfam_AB_hydrolase_3 pfam_AB_hydrolase_3 - no_errors AADACL3 HGNC ENSG00000188984 77 0 0 50 4 7.40741 GPR89A 0 genome.wustl.edu 37 1 145769447 145769447 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 145769447 145769447 G A SNP GPR89A ENST00000313835 human ensembl 74_37 -1 known silent c.1056 p.I352 0.922 pfam_ABA_GPCR_dom pfam_ABA_GPCR_dom,pfam_Golgi_pH-regulator_cons_dom - no_errors GPR89A HGNC ENSG00000117262 44 0 0 26 9 25.7143 VPS45 0 genome.wustl.edu 37 1 150053479 150053479 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 150053479 150053479 A G SNP VPS45 ENST00000369130 human ensembl 74_37 +1 known missense c.743 p.D248G 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS45 HGNC ENSG00000136631 59 0 0 45 15 25 CELF3 0 genome.wustl.edu 37 1 151680108 151680108 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 151680108 151680108 G A SNP CELF3 ENST00000290583 human ensembl 74_37 -1 known missense c.647 p.A216V 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF3 HGNC ENSG00000159409 19 0 0 7 7 50 FLG 0 genome.wustl.edu 37 1 152276316 152276316 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 152276316 152276316 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.11046 p.H3682 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 102 0 0 127 31 19.6203 NPR1 0 genome.wustl.edu 37 1 153658636 153658636 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 153658636 153658636 G A SNP NPR1 ENST00000368680 human ensembl 74_37 +1 known missense c.1718 p.R573H 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR1 HGNC ENSG00000169418 57 0 0 44 11 20 ASH1L 0 genome.wustl.edu 37 1 155317682 155317682 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 155317682 155317682 C T SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.7583 p.R2528H 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 114 1 0.869565 70 34 32.6923 SEMA4A 0 genome.wustl.edu 37 1 156142686 156142686 + Missense_Mutation SNP G G C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 156142686 156142686 G C SNP SEMA4A ENST00000355014 human ensembl 74_37 +1 known missense c.1204 p.V402L 0.944 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom 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 95 0 0 65 32 32.9897 RHBG 0 genome.wustl.edu 37 1 156339053 156339053 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 156339053 156339053 C A SNP RHBG ENST00000368246 human ensembl 74_37 +1 known missense c.13 p.P5T 0.000 NULL pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHBG HGNC ENSG00000132677 63 0 0 24 20 45.4545 HDGF 0 genome.wustl.edu 37 1 156713388 156713388 + RNA SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 156713388 156713388 C T SNP HDGF ENST00000477306 human ensembl 74_37 -1 putative rna NULL NULL 0.001 - - - no_errors HDGF HGNC ENSG00000143321 41 0 0 14 6 30 SH2D2A 0 genome.wustl.edu 37 1 156779466 156779466 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 156779466 156779466 G A SNP SH2D2A ENST00000392306 human ensembl 74_37 -1 known missense c.731 p.A244V 0.000 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors SH2D2A HGNC ENSG00000027869 76 0 0 70 28 28.5714 NTRK1 0 genome.wustl.edu 37 1 156843535 156843535 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 156843535 156843535 G A SNP NTRK1 ENST00000524377 human ensembl 74_37 +1 known missense c.961 p.V321M 0.003 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt - no_errors NTRK1 HGNC ENSG00000198400 20 0 0 12 3 20 SPTA1 0 genome.wustl.edu 37 1 158606546 158606546 + Missense_Mutation SNP T T G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 158606546 158606546 T G SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.5195 p.K1732T 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 119 0 0 67 36 34.9515 FCER1A 0 genome.wustl.edu 37 1 159275825 159275825 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 159275825 159275825 C T SNP FCER1A ENST00000368115 human ensembl 74_37 +1 known missense c.379 p.P127S 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCER1A HGNC ENSG00000179639 60 0 0 49 16 24.6154 VANGL2 0 genome.wustl.edu 37 1 160393967 160393967 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 160393967 160393967 G A SNP VANGL2 ENST00000368061 human ensembl 74_37 +1 known missense c.1199 p.R400H 1.000 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL2 HGNC ENSG00000162738 86 0 0 58 20 25.641 FCGR2B 0 genome.wustl.edu 37 1 161642939 161642939 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 161642939 161642939 G A SNP FCGR2B ENST00000358671 human ensembl 74_37 +1 known missense c.566 p.S189N 0.706 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCGR2B HGNC ENSG00000072694 47 0 0 44 5 10.2041 LMX1A 0 genome.wustl.edu 37 1 165182925 165182925 + Nonsense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 165182925 165182925 G A SNP LMX1A ENST00000294816 human ensembl 74_37 -1 known nonsense c.622 p.R208* 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LMX1A HGNC ENSG00000162761 131 0 0 93 41 30.597 RXRG 0 genome.wustl.edu 37 1 165406376 165406376 + RNA SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 165406376 165406376 G A SNP RXRG ENST00000465764 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RXRG HGNC ENSG00000143171 42 0 0 28 15 34.8837 MFAP2 0 genome.wustl.edu 37 1 17303033 17303033 + Silent SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 17303033 17303033 T C SNP MFAP2 ENST00000375535 human ensembl 74_37 -1 known silent c.249 p.G83 0.356 pfam_MAGP pfam_MAGP,pfam_ShK_toxin - no_errors MFAP2 HGNC ENSG00000117122 65 0 0 33 10 23.2558 SDHB 0 genome.wustl.edu 37 1 17345331 17345331 + RNA SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 17345331 17345331 G A SNP SDHB ENST00000475049 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SDHB HGNC ENSG00000117118 93 0 0 52 3 5.45455 PADI3 0 genome.wustl.edu 37 1 17609510 17609510 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 17609510 17609510 T C SNP PADI3 ENST00000375460 human ensembl 74_37 +1 known missense c.1931 p.V644A 1.000 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI3 HGNC ENSG00000142619 81 0 0 69 15 17.8571 PADI4 0 genome.wustl.edu 37 1 17657500 17657500 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 17657500 17657500 C T SNP PADI4 ENST00000375448 human ensembl 74_37 +1 known silent c.129 p.N43 0.000 pfam_PAD_N,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI4 HGNC ENSG00000159339 56 0 0 51 16 23.8806 SOAT1 0 genome.wustl.edu 37 1 179310351 179310351 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 179310351 179310351 T C SNP SOAT1 ENST00000367619 human ensembl 74_37 +1 known missense c.686 p.I229T 0.384 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors SOAT1 HGNC ENSG00000057252 205 0 0 149 8 5.09554 CEP350 0 genome.wustl.edu 37 1 180062648 180062648 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 180062648 180062648 C T SNP CEP350 ENST00000367607 human ensembl 74_37 +1 known missense c.7408 p.R2470C 1.000 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 21 0 0 9 6 40 GLUL 0 genome.wustl.edu 37 1 182354634 182354634 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 182354634 182354634 C T SNP GLUL ENST00000311223 human ensembl 74_37 -1 known missense c.661 p.A221T 1.000 pfam_Gln_synth_cat_dom pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta - no_errors GLUL HGNC ENSG00000135821 89 0 0 60 19 24.0506 COLGALT2 0 genome.wustl.edu 37 1 183909828 183909828 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 183909828 183909828 G A SNP COLGALT2 ENST00000361927 human ensembl 74_37 -1 known silent c.1491 p.T497 0.822 pfam_Glyco_trans_25 pfam_Glyco_trans_25 - no_errors COLGALT2 HGNC ENSG00000198756 133 0 0 74 29 28.1553 PLA2G4A 0 genome.wustl.edu 37 1 186957564 186957564 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 186957564 186957564 G A SNP PLA2G4A ENST00000367466 human ensembl 74_37 +1 known missense c.2174 p.R725H 1.000 pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4A HGNC ENSG00000116711 92 0 0 70 4 5.40541 MIR4695 0 genome.wustl.edu 37 1 19209766 19209766 + RNA SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 19209766 19209766 C T SNP MIR4695 ENST00000577305 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR4695 HGNC ENSG00000265606 52 0 0 42 18 30 KIF21B 0 genome.wustl.edu 37 1 200974695 200974695 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 200974695 200974695 C T SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known missense c.575 p.R192H 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 33 0 0 39 9 18.75 RPS10P7 0 genome.wustl.edu 37 1 201489468 201489468 + RNA SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 201489468 201489468 G A SNP RPS10P7 ENST00000441932 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RPS10P7 HGNC ENSG00000223396 23 0 0 18 7 28 KDM5B 0 genome.wustl.edu 37 1 202710789 202710789 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 202710789 202710789 G A SNP KDM5B ENST00000367264 human ensembl 74_37 -1 known missense c.2759 p.T920M 0.999 pfam_Lys_sp_deMease_like_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC ENSG00000117139 60 0 0 47 15 24.1935 CDK18 0 genome.wustl.edu 37 1 205495220 205495220 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 205495220 205495220 C T SNP CDK18 ENST00000506784 human ensembl 74_37 +1 known missense c.574 p.R192C 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK18 HGNC ENSG00000117266 21 0 0 20 3 13.0435 SLC41A1 0 genome.wustl.edu 37 1 205768111 205768111 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 205768111 205768111 G A SNP SLC41A1 ENST00000367137 human ensembl 74_37 -1 known missense c.671 p.T224I 1.000 pfam_SLC41_membr_dom pfam_SLC41_membr_dom - no_errors SLC41A1 HGNC ENSG00000133065 37 0 0 31 14 31.1111 ANGEL2 0 genome.wustl.edu 37 1 213180445 213180445 + RNA SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 213180445 213180445 A G SNP ANGEL2 ENST00000460337 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors ANGEL2 HGNC ENSG00000174606 25 0 0 30 3 9.09091 USH2A 0 genome.wustl.edu 37 1 216052348 216052348 + Silent SNP A A C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 216052348 216052348 A C SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.8316 p.T2772 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 144 0 0 133 56 29.6296 USH2A 0 genome.wustl.edu 37 1 216172363 216172363 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 216172363 216172363 G A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.6523 p.R2175C 0.943 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 100 0 0 30 19 38.7755 TGFB2 0 genome.wustl.edu 37 1 218520238 218520238 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 218520238 218520238 G A SNP TGFB2 ENST00000366929 human ensembl 74_37 +1 known silent c.195 p.P65 1.000 pirsf_TGF-beta,pfam_TGF-b_N,prints_TGFb2,prints_TGF-beta pirsf_TGF-beta,pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_TGFb2,prints_TGF-beta - no_errors TGFB2 HGNC ENSG00000092969 58 0 0 43 25 36.7647 SIPA1L2 0 genome.wustl.edu 37 1 232568138 232568138 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 232568138 232568138 C T SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.4111 p.V1371M 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 59 0 0 55 11 16.6667 PCNXL2 0 genome.wustl.edu 37 1 233190017 233190017 + Nonsense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 233190017 233190017 G A SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known nonsense c.4348 p.R1450* 1.000 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 21 0 0 15 6 28.5714 KCNK1 0 genome.wustl.edu 37 1 233802519 233802519 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 233802519 233802519 G A SNP KCNK1 ENST00000366621 human ensembl 74_37 +1 known silent c.534 p.V178 0.093 pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK1,prints_2pore_dom_K_chnl_TWIK,prints_2pore_dom_K_chnl - no_errors KCNK1 HGNC ENSG00000135750 70 0 0 29 16 35.5556 ACTN2 0 genome.wustl.edu 37 1 236924372 236924372 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 236924372 236924372 G A SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known missense c.2425 p.V809I 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN2 HGNC ENSG00000077522 107 0 0 92 19 17.1171 MTR 0 genome.wustl.edu 37 1 237015832 237015832 + Silent SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 237015832 237015832 T C SNP MTR ENST00000366577 human ensembl 74_37 +1 known silent c.1707 p.P569 0.495 pfam_Pterin-binding,superfamily_Dihydropteroate_synth-like,pirsf_MetH,pfscan_Pterin-binding,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 72 0 0 33 9 21.4286 FMN2 0 genome.wustl.edu 37 1 240256529 240256529 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 240256529 240256529 G A SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.1120 p.A374T 0.641 NULL pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 9 0 0 3 3 50 EXO1 0 genome.wustl.edu 37 1 242042466 242042466 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 242042466 242042466 C T SNP EXO1 ENST00000348581 human ensembl 74_37 +1 known missense c.1930 p.P644S 0.001 NULL pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors EXO1 HGNC ENSG00000174371 42 0 0 21 17 44.7368 PLD5 0 genome.wustl.edu 37 1 242253167 242253167 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 242253167 242253167 G A SNP PLD5 ENST00000536534 human ensembl 74_37 -1 known missense c.1600 p.R534W 0.000 NULL smart_PLipase_D/transphosphatidylase - no_errors PLD5 HGNC ENSG00000180287 189 0 0 124 53 29.9435 PLCH2 0 genome.wustl.edu 37 1 2436102 2436102 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 2436102 2436102 G A SNP PLCH2 ENST00000378486 human ensembl 74_37 +1 known missense c.3701 p.R1234Q 0.774 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH2 HGNC ENSG00000149527 30 0 0 23 3 11.5385 OR2T11 0 genome.wustl.edu 37 1 248789600 248789600 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 248789600 248789600 A G SNP OR2T11 ENST00000330803 human ensembl 74_37 -1 known missense c.830 p.I277T 0.002 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 OR2T11 HGNC ENSG00000183130 110 0 0 79 7 8.13953 HMGN2 0 genome.wustl.edu 37 1 26801138 26801138 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 26801138 26801138 G A SNP HMGN2 ENST00000361427 human ensembl 74_37 +1 known missense c.217 p.G73R 1.000 pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam - no_errors HMGN2 HGNC ENSG00000198830 18 0 0 16 5 23.8095 WDTC1 0 genome.wustl.edu 37 1 27589647 27589647 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 27589647 27589647 G A SNP WDTC1 ENST00000319394 human ensembl 74_37 +1 known missense c.53 p.R18Q 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 109 0 0 63 29 31.5217 SMPDL3B 0 genome.wustl.edu 37 1 28282576 28282576 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 28282576 28282576 G A SNP SMPDL3B ENST00000373894 human ensembl 74_37 +1 known missense c.988 p.A330T 0.999 pirsf_ASM-like_Pdiesterase_prd pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd - no_errors SMPDL3B HGNC ENSG00000130768 47 0 0 44 10 18.5185 LAPTM5 0 genome.wustl.edu 37 1 31206723 31206723 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 31206723 31206723 C T SNP LAPTM5 ENST00000294507 human ensembl 74_37 -1 known silent c.741 p.S247 0.271 pfam_LAPTM4/5,tigrfam_LAPTM_4A/5 pfam_LAPTM4/5,tigrfam_LAPTM_4A/5 - no_errors LAPTM5 HGNC ENSG00000162511 42 0 0 32 15 31.9149 SERINC2 0 genome.wustl.edu 37 1 31901827 31901827 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 31901827 31901827 C T SNP SERINC2 ENST00000373710 human ensembl 74_37 +1 known silent c.810 p.D270 0.047 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC2 HGNC ENSG00000168528 201 0 0 119 46 27.8788 CSMD2 0 genome.wustl.edu 37 1 34291301 34291301 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 34291301 34291301 C T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.1108 p.V370M 1.000 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 31 0 0 21 3 12.5 EPHA10 0 genome.wustl.edu 37 1 38186494 38186494 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 38186494 38186494 G A SNP EPHA10 ENST00000427468 human ensembl 74_37 -1 known silent c.2169 p.T723 0.582 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA10 HGNC ENSG00000183317 63 0 0 37 16 30.1887 ZMPSTE24 0 genome.wustl.edu 37 1 40735792 40735792 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 40735792 40735792 T C SNP ZMPSTE24 ENST00000372759 human ensembl 74_37 +1 known missense c.620 p.V207A 1.000 pfam_Peptidase_M48 pfam_Peptidase_M48 - no_errors ZMPSTE24 HGNC ENSG00000084073 168 0 0 89 6 6.31579 CYP4Z1 0 genome.wustl.edu 37 1 47534390 47534390 + Missense_Mutation SNP A A C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 47534390 47534390 A C SNP CYP4Z1 ENST00000334194 human ensembl 74_37 +1 known missense c.274 p.S92R 0.011 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4Z1 HGNC ENSG00000186160 135 0 0 112 9 7.43802 TAL1 0 genome.wustl.edu 37 1 47691501 47691501 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 47691501 47691501 G A SNP TAL1 ENST00000371883 human ensembl 74_37 -1 known silent c.60 p.D20 0.956 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TAL1 HGNC ENSG00000162367 39 0 0 12 6 33.3333 FAM159A 0 genome.wustl.edu 37 1 53099298 53099298 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 53099298 53099298 G A SNP FAM159A ENST00000517870 human ensembl 74_37 +1 known missense c.133 p.D45N 1.000 NULL NULL - no_errors FAM159A HGNC ENSG00000182183 73 0 0 73 8 9.87654 SSBP3 0 genome.wustl.edu 37 1 54694484 54694484 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 54694484 54694484 C T SNP SSBP3 ENST00000371320 human ensembl 74_37 -1 known missense c.943 p.G315S 1.000 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd - no_errors SSBP3 HGNC ENSG00000157216 20 0 0 22 2 8.33333 MROH7-TTC4 0 genome.wustl.edu 37 1 55119781 55119781 + Silent SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 55119781 55119781 C A SNP MROH7-TTC4 ENST00000414150 human ensembl 74_37 +1 known silent c.1182 p.I394 0.000 NULL superfamily_ARM-type_fold - no_errors MROH7-TTC4 HGNC ENSG00000271723 33 0 0 20 9 31.0345 ANGPTL3 0 genome.wustl.edu 37 1 63068014 63068014 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 63068014 63068014 G A SNP ANGPTL3 ENST00000371129 human ensembl 74_37 +1 known silent c.894 p.T298 0.212 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 ANGPTL3 HGNC ENSG00000132855 159 0 0 100 25 20 FOXD3 0 genome.wustl.edu 37 1 63789968 63789968 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 63789968 63789968 G A SNP FOXD3 ENST00000371116 human ensembl 74_37 +1 known silent c.1239 p.A413 0.149 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXD3 HGNC ENSG00000187140 12 0 0 2 4 66.6667 CACHD1 0 genome.wustl.edu 37 1 65143941 65143941 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 65143941 65143941 C T SNP CACHD1 ENST00000371073 human ensembl 74_37 +1 known silent c.3192 p.F1064 0.426 NULL pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC ENSG00000158966 68 0 0 47 20 29.8507 PDE4B 0 genome.wustl.edu 37 1 66798170 66798170 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 66798170 66798170 T C SNP PDE4B ENST00000371045 human ensembl 74_37 +1 known missense c.98 p.M33T 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4B HGNC ENSG00000184588 96 0 0 58 12 17.1429 LHX8 0 genome.wustl.edu 37 1 75606736 75606736 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 75606736 75606736 C T SNP LHX8 ENST00000294638 human ensembl 74_37 +1 known missense c.334 p.H112Y 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX8 HGNC ENSG00000162624 104 0 0 78 46 37.0968 UTS2 0 genome.wustl.edu 37 1 7910968 7910968 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 7910968 7910968 C T SNP UTS2 ENST00000054668 human ensembl 74_37 -1 known missense c.163 p.A55T 0.000 NULL pfam_Urotensin_II - no_errors UTS2 HGNC ENSG00000049247 71 0 0 40 16 28.5714 SFXN3 0 genome.wustl.edu 37 10 102795417 102795417 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 102795417 102795417 T C SNP SFXN3 ENST00000224807 human ensembl 74_37 +1 known missense c.337 p.F113L 1.000 pfam_Mtc,tigrfam_Mtc pfam_Mtc,tigrfam_Mtc - no_errors SFXN3 HGNC ENSG00000107819 44 0 0 36 4 10 LBX1 0 genome.wustl.edu 37 10 102987488 102987488 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 102987488 102987488 G A SNP LBX1 ENST00000370193 human ensembl 74_37 -1 known missense c.385 p.R129C 0.997 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors LBX1 HGNC ENSG00000138136 79 0 0 70 4 5.40541 NPM3 0 genome.wustl.edu 37 10 103541521 103541521 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 103541521 103541521 G A SNP NPM3 ENST00000370110 human ensembl 74_37 -1 known missense c.509 p.P170L 1.000 NULL superfamily_Nucleoplasmin_core_dom - no_errors NPM3 HGNC ENSG00000107833 264 0 0 185 70 27.451 LDB1 0 genome.wustl.edu 37 10 103871259 103871259 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 103871259 103871259 C T SNP LDB1 ENST00000425280 human ensembl 74_37 -1 known silent c.60 p.P20 1.000 NULL NULL - no_errors LDB1 HGNC ENSG00000198728 42 0 0 28 6 17.6471 GBF1 0 genome.wustl.edu 37 10 104119976 104119976 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 104119976 104119976 C T SNP GBF1 ENST00000369983 human ensembl 74_37 +1 known missense c.1213 p.R405C 0.998 superfamily_ARM-type_fold pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors GBF1 HGNC ENSG00000107862 468 0 0 440 28 5.98291 WDR96 0 genome.wustl.edu 37 10 105956617 105956617 + Missense_Mutation SNP A A T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 105956617 105956617 A T SNP WDR96 ENST00000357060 human ensembl 74_37 -1 known missense c.1287 p.N429K 0.019 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu - no_errors WDR96 HGNC ENSG00000197748 65 0 0 52 3 5.45455 SORCS1 0 genome.wustl.edu 37 10 108923921 108923921 + Missense_Mutation SNP C C G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 108923921 108923921 C G SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known missense c.364 p.E122Q 0.005 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 69 0 0 42 14 25 SHOC2 0 genome.wustl.edu 37 10 112724378 112724378 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 112724378 112724378 G A SNP SHOC2 ENST00000369452 human ensembl 74_37 +1 known missense c.262 p.A88T 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors SHOC2 HGNC ENSG00000108061 103 0 0 68 28 29.1667 TCF7L2 0 genome.wustl.edu 37 10 114912188 114912188 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 114912188 114912188 C T SNP TCF7L2 ENST00000355995 human ensembl 74_37 +1 known missense c.1258 p.R420W 1.000 superfamily_HMG_box_dom pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7L2 HGNC ENSG00000148737 126 1 0.787402 105 50 32.2581 HSPA12A 0 genome.wustl.edu 37 10 118434447 118434447 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 118434447 118434447 G A SNP HSPA12A ENST00000369209 human ensembl 74_37 -1 known missense c.1873 p.R625C 0.993 NULL NULL - no_errors HSPA12A HGNC ENSG00000165868 78 0 0 55 34 38.2022 KIAA1598 0 genome.wustl.edu 37 10 118713647 118713647 + Silent SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 118713647 118713647 A G SNP KIAA1598 ENST00000392903 human ensembl 74_37 -1 known silent c.342 p.T114 0.986 NULL superfamily_Adenylate_cyclase-assoc_CAP_N - no_errors KIAA1598 HGNC ENSG00000187164 46 0 0 35 16 31.3725 UPF2 0 genome.wustl.edu 37 10 11971928 11971928 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 11971928 11971928 G A SNP UPF2 ENST00000356352 human ensembl 74_37 -1 known missense c.3745 p.R1249W 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC ENSG00000151461 103 0 0 82 7 7.86517 PRLHR 0 genome.wustl.edu 37 10 120354648 120354648 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 120354648 120354648 C T SNP PRLHR ENST00000239032 human ensembl 74_37 -1 known missense c.109 p.G37R 0.119 prints_Prolrel_pep_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PRLHR HGNC ENSG00000119973 46 0 0 29 11 27.5 MCM10 0 genome.wustl.edu 37 10 13228168 13228168 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 13228168 13228168 G A SNP MCM10 ENST00000484800 human ensembl 74_37 +1 known missense c.1106 p.C369Y 1.000 NULL pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG - no_errors MCM10 HGNC ENSG00000065328 173 0 0 82 56 40.5797 GPR123 0 genome.wustl.edu 37 10 134916258 134916258 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 134916258 134916258 G A SNP GPR123 ENST00000607359 human ensembl 74_37 +1 putative missense c.2473 p.A825T 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like - no_errors GPR123 HGNC ENSG00000197177 30 0 0 14 6 30 ADAM8 0 genome.wustl.edu 37 10 135083962 135083962 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 135083962 135083962 G A SNP ADAM8 ENST00000445355 human ensembl 74_37 -1 known missense c.1687 p.R563C 0.009 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,pfam_ADAM_Cys-rich,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM8 HGNC ENSG00000151651 70 0 0 55 35 38.8889 ADARB2 0 genome.wustl.edu 37 10 1406001 1406001 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 1406001 1406001 C T SNP ADARB2 ENST00000381312 human ensembl 74_37 -1 known missense c.299 p.R100Q 1.000 NULL pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADARB2 HGNC ENSG00000185736 30 0 0 11 10 47.619 VIM 0 genome.wustl.edu 37 10 17271610 17271610 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 17271610 17271610 G A SNP VIM ENST00000224237 human ensembl 74_37 +1 known silent c.189 p.T63 0.686 pfam_Intermed_filament_DNA-bd pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors VIM HGNC ENSG00000026025 8 0 0 9 4 30.7692 ENKUR 0 genome.wustl.edu 37 10 25284784 25284784 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 25284784 25284784 G A SNP ENKUR ENST00000331161 human ensembl 74_37 -1 known missense c.238 p.R80W 0.000 NULL NULL - no_errors ENKUR HGNC ENSG00000151023 72 0 0 45 19 29.6875 MPP7 0 genome.wustl.edu 37 10 28409129 28409129 + Missense_Mutation SNP T T A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 28409129 28409129 T A SNP MPP7 ENST00000337532 human ensembl 74_37 -1 known missense c.881 p.Q294L 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_SH3_domain - no_errors MPP7 HGNC ENSG00000150054 58 0 0 32 19 37.2549 ZNF438 0 genome.wustl.edu 37 10 31137596 31137596 + Nonsense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 31137596 31137596 G A SNP ZNF438 ENST00000361310 human ensembl 74_37 -1 known nonsense c.1738 p.R580* 0.144 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF438 HGNC ENSG00000183621 85 0 0 63 25 28.4091 NAMPTL 0 genome.wustl.edu 37 10 36811976 36811976 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 36811976 36811976 T C SNP NAMPTL ENST00000543053 human ensembl 74_37 -1 known missense c.131 p.K44R 1.000 pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C - no_errors NAMPTL HGNC ENSG00000229644 52 0 0 39 14 26.4151 ANKRD30A 0 genome.wustl.edu 37 10 37430700 37430700 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 37430700 37430700 C A SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.707 p.P236H 0.026 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 49 0 0 42 12 22.2222 ZNF248 0 genome.wustl.edu 37 10 38120778 38120778 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 38120778 38120778 C T SNP ZNF248 ENST00000357328 human ensembl 74_37 -1 known missense c.1505 p.C502Y 0.991 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 ZNF248 HGNC ENSG00000198105 108 0 0 77 22 22.2222 SYT15 0 genome.wustl.edu 37 10 46967470 46967470 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 46967470 46967470 G A SNP SYT15 ENST00000374323 human ensembl 74_37 -1 known missense c.766 p.R256C 0.775 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT15 HGNC ENSG00000204176 117 1 0.847458 92 17 15.5963 RBP3 0 genome.wustl.edu 37 10 48389220 48389220 + Missense_Mutation SNP G G C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 48389220 48389220 G C SNP RBP3 ENST00000224600 human ensembl 74_37 -1 known missense c.1658 p.A553G 1.000 pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 72 0 0 55 16 22.5352 PHYHIPL 0 genome.wustl.edu 37 10 60994193 60994193 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 60994193 60994193 G A SNP PHYHIPL ENST00000373880 human ensembl 74_37 +1 known missense c.236 p.R79H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PHYHIPL HGNC ENSG00000165443 76 0 0 40 14 25.9259 CDH23 0 genome.wustl.edu 37 10 73270932 73270932 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 73270932 73270932 C T SNP CDH23 ENST00000461841 human ensembl 74_37 +1 known missense c.527 p.T176I 0.069 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 117 0 0 101 25 19.8413 VCL 0 genome.wustl.edu 37 10 75868773 75868773 + Silent SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 75868773 75868773 T C SNP VCL ENST00000211998 human ensembl 74_37 +1 known silent c.2604 p.G868 0.996 pfam_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin - no_errors VCL HGNC ENSG00000035403 69 0 0 60 23 27.7108 KCNMA1 0 genome.wustl.edu 37 10 79397198 79397198 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 79397198 79397198 G A SNP KCNMA1 ENST00000406533 human ensembl 74_37 -1 known missense c.203 p.A68V 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 30 0 0 18 4 18.1818 RPS24 0 genome.wustl.edu 37 10 79795304 79795304 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 79795304 79795304 G A SNP RPS24 ENST00000440692 human ensembl 74_37 +1 known silent c.105 p.V35 0.811 pfam_Ribosomal_S24e,superfamily_Ribosomal_L23/L15e_core_dom pfam_Ribosomal_S24e,superfamily_Ribosomal_L23/L15e_core_dom - no_errors RPS24 HGNC ENSG00000138326 48 0 0 32 18 36 GATA3 0 genome.wustl.edu 37 10 8100351 8100351 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 8100351 8100351 G A SNP GATA3 ENST00000379328 human ensembl 74_37 +1 known missense c.325 p.A109T 1.000 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 151 0 0 109 26 19.2593 GATA3 0 genome.wustl.edu 37 10 8115975 8115975 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 8115975 8115975 G A SNP GATA3 ENST00000379328 human ensembl 74_37 +1 known missense c.1324 p.A442T 1.000 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 71 0 0 61 5 7.57576 PANK1 0 genome.wustl.edu 37 10 91353063 91353063 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 91353063 91353063 A G SNP PANK1 ENST00000307534 human ensembl 74_37 -1 known missense c.1502 p.M501T 1.000 pfam_Type_II_PanK,tigrfam_Type_II_PanK pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK1 HGNC ENSG00000152782 41 0 0 26 12 31.5789 PIK3AP1 0 genome.wustl.edu 37 10 98386589 98386589 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 98386589 98386589 C T SNP PIK3AP1 ENST00000339364 human ensembl 74_37 -1 known silent c.1545 p.T515 0.001 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors PIK3AP1 HGNC ENSG00000155629 105 0 0 71 19 21.1111 PGR 0 genome.wustl.edu 37 11 100999479 100999479 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 100999479 100999479 C A SNP PGR ENST00000325455 human ensembl 74_37 -1 known missense c.323 p.S108I 0.715 pfam_Progest_rcpt,prints_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 25 9 26.4706 MUC6 0 genome.wustl.edu 37 11 1016092 1016092 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 1016092 1016092 G T SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.6709 p.P2237T 0.000 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 103 0 0 73 32 30.4762 C11orf88 0 genome.wustl.edu 37 11 111385697 111385697 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 111385697 111385697 G A SNP C11orf88 ENST00000529167 human ensembl 74_37 +1 known missense c.188 p.R63H 0.995 NULL NULL - no_errors C11orf88 HGNC ENSG00000183644 67 0 0 42 19 31.1475 LAYN 0 genome.wustl.edu 37 11 111431078 111431078 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 111431078 111431078 C T SNP LAYN ENST00000375615 human ensembl 74_37 +1 known silent c.1044 p.S348 0.949 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors LAYN HGNC ENSG00000204381 100 1 0.990099 80 24 23.0769 CSNK2A3 0 genome.wustl.edu 37 11 11374613 11374613 + Missense_Mutation SNP G G C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 11374613 11374613 G C SNP CSNK2A3 ENST00000528848 human ensembl 74_37 -1 novel missense c.54 p.H18Q 0.991 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK2A3 HGNC ENSG00000254598 69 0 0 51 26 33.7662 NXPE1 0 genome.wustl.edu 37 11 114401086 114401086 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 114401086 114401086 T C SNP NXPE1 ENST00000424269 human ensembl 74_37 -1 known missense c.644 p.H215R 0.005 pfam_NXPH/NXPE pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE1 HGNC ENSG00000095110 60 0 0 51 21 29.1667 CBL 0 genome.wustl.edu 37 11 119146846 119146846 + Splice_Site SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 119146846 119146846 T C SNP CBL ENST00000264033 human ensembl 74_37 +1 known splice_site c.1007+2 e6+2 1.000 - - - no_errors CBL HGNC ENSG00000110395 78 0 0 54 22 28.9474 OR8D2 0 genome.wustl.edu 37 11 124189676 124189676 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 124189676 124189676 C A SNP OR8D2 ENST00000357438 human ensembl 74_37 -1 known missense c.418 p.V140F 0.024 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D2 HGNC ENSG00000197263 64 0 0 62 14 18.4211 ACRV1 0 genome.wustl.edu 37 11 125548009 125548009 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 125548009 125548009 G T SNP ACRV1 ENST00000533904 human ensembl 74_37 -1 known missense c.236 p.T79N 0.000 NULL NULL - no_errors ACRV1 HGNC ENSG00000134940 67 0 0 46 10 17.8571 TIRAP 0 genome.wustl.edu 37 11 126162737 126162737 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 126162737 126162737 C T SNP TIRAP ENST00000392678 human ensembl 74_37 +1 known silent c.433 p.L145 1.000 pfam_TIR_dom,superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Tirap,pfscan_TIR_dom pfam_TIR_dom,superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Tirap,pfscan_TIR_dom - no_errors TIRAP HGNC ENSG00000150455 23 0 0 11 4 26.6667 ST14 0 genome.wustl.edu 37 11 130069878 130069878 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 130069878 130069878 C T SNP ST14 ENST00000278742 human ensembl 74_37 +1 known missense c.1840 p.R614C 0.909 pirsf_Peptidase_S1A_matripase,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_Peptidase_S1 pirsf_Peptidase_S1A_matripase,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors ST14 HGNC ENSG00000149418 90 0 0 60 41 40.5941 IGSF9B 0 genome.wustl.edu 37 11 133791120 133791120 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 133791120 133791120 C T SNP IGSF9B ENST00000321016 human ensembl 74_37 -1 known missense c.2500 p.V834M 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9B HGNC ENSG00000080854 59 0 0 43 9 17.3077 MRGPRX3 0 genome.wustl.edu 37 11 18158959 18158959 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 18158959 18158959 G A SNP MRGPRX3 ENST00000396275 human ensembl 74_37 +1 known silent c.210 p.A70 0.022 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX3 HGNC ENSG00000179826 76 0 0 61 24 28.2353 IGSF22 0 genome.wustl.edu 37 11 18736149 18736149 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 18736149 18736149 G A SNP IGSF22 ENST00000513874 human ensembl 74_37 -1 known silent c.1554 p.S518 0.913 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF22 HGNC ENSG00000179057 62 0 0 50 23 31.5068 ANO5 0 genome.wustl.edu 37 11 22301182 22301182 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 22301182 22301182 G A SNP ANO5 ENST00000324559 human ensembl 74_37 +1 known missense c.2613 p.M871I 0.999 NULL pfam_Anoctamin - no_errors ANO5 HGNC ENSG00000171714 68 0 0 51 3 5.55556 GAS2 0 genome.wustl.edu 37 11 22833350 22833350 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 22833350 22833350 C T SNP GAS2 ENST00000278187 human ensembl 74_37 +1 known missense c.730 p.H244Y 1.000 pfam_GAS2_dom,superfamily_GAS2_dom,smart_GAS2_dom pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2 HGNC ENSG00000148935 93 0 0 75 25 25 DCDC1 0 genome.wustl.edu 37 11 31327839 31327839 + Silent SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 31327839 31327839 T C SNP DCDC1 ENST00000452803 human ensembl 74_37 -1 known silent c.531 p.T177 1.000 NULL pfscan_Doublecortin_dom - no_errors DCDC1 HGNC ENSG00000170959 86 0 0 48 5 9.43396 CD59 0 genome.wustl.edu 37 11 33731873 33731873 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 33731873 33731873 G A SNP CD59 ENST00000533403 human ensembl 74_37 -1 novel missense c.308 p.T103I 0.000 NULL pfam_LY6_UPAR - no_errors CD59 HGNC ENSG00000085063 60 0 0 40 29 42.029 NUP98 0 genome.wustl.edu 37 11 3726529 3726529 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 3726529 3726529 G A SNP NUP98 ENST00000324932 human ensembl 74_37 -1 known missense c.2983 p.R995C 0.999 NULL pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC ENSG00000110713 97 0 0 66 13 16.4557 ALKBH3 0 genome.wustl.edu 37 11 43913679 43913679 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 43913679 43913679 C T SNP ALKBH3 ENST00000302708 human ensembl 74_37 +1 known silent c.459 p.H153 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase - no_errors ALKBH3 HGNC ENSG00000166199 49 0 0 31 9 22.5 ZNF408 0 genome.wustl.edu 37 11 46726219 46726219 + Silent SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 46726219 46726219 A G SNP ZNF408 ENST00000311764 human ensembl 74_37 +1 known silent c.969 p.P323 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF408 HGNC ENSG00000175213 67 0 0 62 4 6.06061 MADD 0 genome.wustl.edu 37 11 47312235 47312235 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 47312235 47312235 C T SNP MADD ENST00000311027 human ensembl 74_37 +1 known missense c.3229 p.R1077W 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 81 0 0 56 6 9.67742 FNBP4 0 genome.wustl.edu 37 11 47744609 47744609 + Silent SNP T T A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 47744609 47744609 T A SNP FNBP4 ENST00000263773 human ensembl 74_37 -1 known silent c.2724 p.P908 0.770 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors FNBP4 HGNC ENSG00000109920 11 0 0 8 5 38.4615 OR4C11 0 genome.wustl.edu 37 11 55371101 55371101 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 55371101 55371101 C T SNP OR4C11 ENST00000302231 human ensembl 74_37 -1 known missense c.749 p.G250D 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C11 HGNC ENSG00000172188 81 0 0 44 18 29.0323 OR4S2 0 genome.wustl.edu 37 11 55418792 55418792 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 55418792 55418792 C T SNP OR4S2 ENST00000312422 human ensembl 74_37 +1 known missense c.413 p.T138I 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4S2 HGNC ENSG00000174982 198 0 0 152 43 22.0513 OR10AG1 0 genome.wustl.edu 37 11 55735148 55735148 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 55735148 55735148 C T SNP OR10AG1 ENST00000312345 human ensembl 74_37 -1 known silent c.792 p.L264 0.000 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 OR10AG1 HGNC ENSG00000174970 53 0 0 25 3 10.7143 CTNND1 0 genome.wustl.edu 37 11 57571140 57571140 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 57571140 57571140 G A SNP CTNND1 ENST00000399050 human ensembl 74_37 +1 known missense c.1468 p.V490M 1.000 superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 31 0 0 10 7 41.1765 ZFP91 0 genome.wustl.edu 37 11 58384917 58384917 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 58384917 58384917 C T SNP ZFP91 ENST00000316059 human ensembl 74_37 +1 known missense c.1451 p.T484M 0.089 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP91 HGNC ENSG00000186660 39 0 0 27 15 35.7143 OR56A1 0 genome.wustl.edu 37 11 6048430 6048430 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 6048430 6048430 G T SNP OR56A1 ENST00000316650 human ensembl 74_37 -1 known missense c.505 p.L169I 0.076 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR56A1 HGNC ENSG00000180934 110 0 0 89 29 24.5763 NAA40 0 genome.wustl.edu 37 11 63719910 63719910 + Nonsense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 63719910 63719910 C T SNP NAA40 ENST00000377793 human ensembl 74_37 +1 known nonsense c.283 p.R95* 1.000 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA40 HGNC ENSG00000110583 111 1 0.892857 74 27 26.7327 DRD4 0 genome.wustl.edu 37 11 639781 639781 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 639781 639781 C T SNP DRD4 ENST00000176183 human ensembl 74_37 +1 known missense c.532 p.R178C 0.939 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D4_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_D4_rcpt,prints_Dopamine_rcpt - no_errors DRD4 HGNC ENSG00000069696 14 0 0 13 4 23.5294 CCDC88B 0 genome.wustl.edu 37 11 64111563 64111563 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 64111563 64111563 G A SNP CCDC88B ENST00000356786 human ensembl 74_37 +1 known missense c.1550 p.G517D 0.000 NULL pfam_Hook-related_fam - no_errors CCDC88B HGNC ENSG00000168071 56 0 0 40 20 33.3333 SLC22A11 0 genome.wustl.edu 37 11 64337280 64337280 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 64337280 64337280 G A SNP SLC22A11 ENST00000301891 human ensembl 74_37 +1 known silent c.1539 p.P513 0.420 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A11 HGNC ENSG00000168065 111 0 0 67 35 34.3137 ATG2A 0 genome.wustl.edu 37 11 64677303 64677303 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 64677303 64677303 G A SNP ATG2A ENST00000421419 human ensembl 74_37 -1 known missense c.1957 p.R653W 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2A HGNC ENSG00000110046 50 0 0 29 12 29.2683 VPS51 0 genome.wustl.edu 37 11 64879067 64879067 + RNA SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 64879067 64879067 C T SNP VPS51 ENST00000527646 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors VPS51 HGNC ENSG00000149823 13 0 0 13 8 38.0952 ARFIP2 0 genome.wustl.edu 37 11 6499032 6499032 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 6499032 6499032 C A SNP ARFIP2 ENST00000254584 human ensembl 74_37 -1 known missense c.786 p.Q262H 1.000 pfam_AH_dom,pfscan_AH_dom pfam_AH_dom,pfscan_AH_dom - no_errors ARFIP2 HGNC ENSG00000132254 62 0 0 45 22 32.8358 NPAS4 0 genome.wustl.edu 37 11 66189603 66189603 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 66189603 66189603 C T SNP NPAS4 ENST00000311034 human ensembl 74_37 +1 known missense c.188 p.A63V 0.687 NULL pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 59 0 0 32 23 41.8182 ENSG00000250105 0 genome.wustl.edu 37 11 66326653 66326653 + RNA SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 66326653 66326653 G A SNP ENSG00000250105 ENST00000504911 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-3074O7.2 Clone_based_vega_gene ENSG00000250105 31 0 0 18 8 30.7692 RBM4 0 genome.wustl.edu 37 11 66407528 66407528 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 66407528 66407528 G A SNP RBM4 ENST00000310092 human ensembl 74_37 +1 known missense c.346 p.V116I 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors RBM4 HGNC ENSG00000173933 125 0 0 96 29 23.2 ALDH3B2 0 genome.wustl.edu 37 11 67432885 67432885 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 67432885 67432885 C T SNP ALDH3B2 ENST00000349015 human ensembl 74_37 -1 known missense c.577 p.D193N 0.001 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH3B2 HGNC ENSG00000132746 102 1 0.970874 64 23 26.4368 LRP5 0 genome.wustl.edu 37 11 68201267 68201267 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 68201267 68201267 G A SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known missense c.3961 p.A1321T 0.413 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 54 0 0 27 14 34.1463 MTL5 0 genome.wustl.edu 37 11 68478438 68478438 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 68478438 68478438 A G SNP MTL5 ENST00000255087 human ensembl 74_37 -1 known missense c.1238 p.M413T 1.000 NULL pfam_CRC,superfamily_Thionin - no_errors MTL5 HGNC ENSG00000132749 39 0 0 31 11 26.1905 IGHMBP2 0 genome.wustl.edu 37 11 68704522 68704522 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 68704522 68704522 G A SNP IGHMBP2 ENST00000255078 human ensembl 74_37 +1 known silent c.2574 p.Q858 0.000 NULL pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put - no_errors IGHMBP2 HGNC ENSG00000132740 36 0 0 30 4 11.7647 PHOX2A 0 genome.wustl.edu 37 11 71952153 71952153 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 71952153 71952153 C T SNP PHOX2A ENST00000298231 human ensembl 74_37 -1 known missense c.398 p.R133H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PHOX2A HGNC ENSG00000165462 35 0 0 40 5 11.1111 PDDC1 0 genome.wustl.edu 37 11 771381 771381 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 771381 771381 G A SNP PDDC1 ENST00000397472 human ensembl 74_37 -1 known missense c.496 p.P166S 1.000 NULL pfam_ThiJ/PfpI - no_errors PDDC1 HGNC ENSG00000177225 22 0 0 21 5 19.2308 FAT3 0 genome.wustl.edu 37 11 92569759 92569759 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 92569759 92569759 C T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.10114 p.P3372S 0.812 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 69 0 0 59 18 23.3766 MAML2 0 genome.wustl.edu 37 11 95712528 95712528 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 95712528 95712528 G T SNP MAML2 ENST00000524717 human ensembl 74_37 -1 known missense c.3055 p.Q1019K 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 23 0 0 17 2 10.5263 UTP20 0 genome.wustl.edu 37 12 101767445 101767445 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 101767445 101767445 A G SNP UTP20 ENST00000261637 human ensembl 74_37 +1 known missense c.7031 p.K2344R 1.000 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 53 0 0 45 15 25 CHPT1 0 genome.wustl.edu 37 12 102091823 102091823 + Missense_Mutation SNP G G C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 102091823 102091823 G C SNP CHPT1 ENST00000229266 human ensembl 74_37 +1 known missense c.184 p.A62P 1.000 pfam_CDP-OH_P_trans,pirsf_CHOPT pfam_CDP-OH_P_trans,pirsf_CHOPT - no_errors CHPT1 HGNC ENSG00000111666 24 0 0 9 3 25 TXNRD1 0 genome.wustl.edu 37 12 104682640 104682640 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 104682640 104682640 G A SNP TXNRD1 ENST00000378070 human ensembl 74_37 +1 known missense c.83 p.R28Q 0.387 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD1 HGNC ENSG00000198431 26 0 0 14 12 46.1538 TMEM119 0 genome.wustl.edu 37 12 108985723 108985723 + Missense_Mutation SNP C C G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 108985723 108985723 C G SNP TMEM119 ENST00000392806 human ensembl 74_37 -1 known missense c.437 p.G146A 0.984 NULL NULL - no_errors TMEM119 HGNC ENSG00000183160 16 0 0 7 4 36.3636 ALDH2 0 genome.wustl.edu 37 12 112237855 112237855 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 112237855 112237855 C T SNP ALDH2 ENST00000261733 human ensembl 74_37 +1 known missense c.1394 p.A465V 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH2 HGNC ENSG00000111275 29 0 0 18 9 33.3333 OAS3 0 genome.wustl.edu 37 12 113382430 113382430 + Missense_Mutation SNP T T G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 113382430 113382430 T G SNP OAS3 ENST00000228928 human ensembl 74_37 +1 known missense c.610 p.L204V 0.996 pfam_2-5-oligoAdlate_synth_1_dom2/C pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS3 HGNC ENSG00000111331 67 0 0 76 4 5 LHX5 0 genome.wustl.edu 37 12 113907091 113907091 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 113907091 113907091 C T SNP LHX5 ENST00000261731 human ensembl 74_37 -1 known missense c.233 p.R78H 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX5 HGNC ENSG00000089116 85 0 0 88 11 11.1111 TBX3 0 genome.wustl.edu 37 12 115120667 115120667 + Nonsense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 115120667 115120667 C T SNP TBX3 ENST00000257566 human ensembl 74_37 -1 known nonsense c.339 p.W113* 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX3 HGNC ENSG00000135111 93 0 0 54 17 23.9437 WSB2 0 genome.wustl.edu 37 12 118474278 118474278 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 118474278 118474278 C T SNP WSB2 ENST00000315436 human ensembl 74_37 -1 known missense c.698 p.R233Q 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SOCS_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WSB2 HGNC ENSG00000176871 102 0 0 62 34 35.4167 TAOK3 0 genome.wustl.edu 37 12 118682752 118682752 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 118682752 118682752 T C SNP TAOK3 ENST00000392533 human ensembl 74_37 -1 known missense c.139 p.S47G 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK3 HGNC ENSG00000135090 110 0 0 57 30 34.4828 GCN1L1 0 genome.wustl.edu 37 12 120589077 120589077 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 120589077 120589077 C T SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known missense c.4181 p.R1394H 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 52 0 0 34 6 15 PXN 0 genome.wustl.edu 37 12 120660425 120660425 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 120660425 120660425 G A SNP PXN ENST00000267257 human ensembl 74_37 -1 known missense c.622 p.R208W 0.999 prints_Paxillin pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM,prints_Paxillin - no_errors PXN HGNC ENSG00000089159 12 0 0 6 2 25 ACADS 0 genome.wustl.edu 37 12 121176396 121176396 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 121176396 121176396 G A SNP ACADS ENST00000242592 human ensembl 74_37 +1 known missense c.856 p.A286T 0.994 pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADS HGNC ENSG00000122971 91 0 0 63 42 40 MMP17 0 genome.wustl.edu 37 12 132329917 132329917 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 132329917 132329917 G A SNP MMP17 ENST00000360564 human ensembl 74_37 +1 known missense c.1127 p.R376Q 1.000 pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP17 HGNC ENSG00000198598 25 0 0 25 3 10.7143 ANKLE2 0 genome.wustl.edu 37 12 133304695 133304695 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 133304695 133304695 G A SNP ANKLE2 ENST00000357997 human ensembl 74_37 -1 known silent c.2538 p.D846 0.000 NULL pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom - no_errors ANKLE2 HGNC ENSG00000176915 166 0 0 123 56 31.2849 PTPRO 0 genome.wustl.edu 37 12 15636953 15636953 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 15636953 15636953 G A SNP PTPRO ENST00000281171 human ensembl 74_37 +1 known missense c.121 p.V41I 0.805 superfamily_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRO HGNC ENSG00000151490 68 0 0 44 10 18.5185 SLCO1C1 0 genome.wustl.edu 37 12 20903795 20903795 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 20903795 20903795 C T SNP SLCO1C1 ENST00000381552 human ensembl 74_37 +1 known missense c.1985 p.T662I 0.000 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO1C1 HGNC ENSG00000139155 58 0 0 27 12 30.7692 SLCO1B1 0 genome.wustl.edu 37 12 21325709 21325709 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 21325709 21325709 C T SNP SLCO1B1 ENST00000256958 human ensembl 74_37 +1 known silent c.210 p.D70 0.996 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 SLCO1B1 HGNC ENSG00000134538 23 0 0 14 3 17.6471 GYS2 0 genome.wustl.edu 37 12 21712082 21712082 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 21712082 21712082 G A SNP GYS2 ENST00000261195 human ensembl 74_37 -1 known silent c.1251 p.N417 0.998 pfam_Glycogen_synth pfam_Glycogen_synth,pfam_Glyco_trans_1 - no_errors GYS2 HGNC ENSG00000111713 36 0 0 16 3 15.7895 KRAS 0 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 25398284 25398284 C T SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.35 p.G12D 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 36 0 0 15 5 25 IQSEC3 0 genome.wustl.edu 37 12 274932 274932 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 274932 274932 G A SNP IQSEC3 ENST00000326261 human ensembl 74_37 +1 known silent c.2847 p.S949 0.895 NULL pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC3 HGNC ENSG00000120645 41 0 0 41 16 28.0702 IPO8 0 genome.wustl.edu 37 12 30816463 30816463 + Silent SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 30816463 30816463 A G SNP IPO8 ENST00000256079 human ensembl 74_37 -1 known silent c.1554 p.A518 0.816 superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO8 HGNC ENSG00000133704 64 0 0 49 3 5.76923 TSPAN11 0 genome.wustl.edu 37 12 31135587 31135587 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 31135587 31135587 G A SNP TSPAN11 ENST00000261177 human ensembl 74_37 +1 known missense c.577 p.G193S 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN11 HGNC ENSG00000110900 16 0 0 6 4 40 DDX11 0 genome.wustl.edu 37 12 31247692 31247692 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 31247692 31247692 C T SNP DDX11 ENST00000407793 human ensembl 74_37 +1 known missense c.1418 p.T473M 0.948 tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors DDX11 HGNC ENSG00000013573 25 0 0 21 5 19.2308 METTL20 0 genome.wustl.edu 37 12 31820818 31820818 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 31820818 31820818 G A SNP METTL20 ENST00000357721 human ensembl 74_37 +1 known missense c.683 p.S228N 0.825 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL20 HGNC ENSG00000139160 93 0 0 83 6 6.74157 PKP2 0 genome.wustl.edu 37 12 32974415 32974415 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 32974415 32974415 C T SNP PKP2 ENST00000070846 human ensembl 74_37 -1 known missense c.2020 p.V674M 0.959 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP2 HGNC ENSG00000057294 73 0 0 46 21 31.3433 C12orf5 0 genome.wustl.edu 37 12 4460522 4460522 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 4460522 4460522 C T SNP C12orf5 ENST00000179259 human ensembl 74_37 +1 known silent c.360 p.P120 0.000 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1 - no_errors C12orf5 HGNC ENSG00000078237 55 0 0 31 20 39.2157 CACNB3 0 genome.wustl.edu 37 12 49220259 49220259 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 49220259 49220259 G A SNP CACNB3 ENST00000301050 human ensembl 74_37 +1 known silent c.852 p.S284 0.002 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,prints_VDCC_L_bsu pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,prints_VDCC_L_bsu,prints_VDCC_L_b3su - no_errors CACNB3 HGNC ENSG00000167535 39 0 0 14 10 41.6667 SMARCD1 0 genome.wustl.edu 37 12 50481152 50481152 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 50481152 50481152 C T SNP SMARCD1 ENST00000394963 human ensembl 74_37 +1 known missense c.538 p.R180W 1.000 NULL pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain - no_errors SMARCD1 HGNC ENSG00000066117 239 0 0 146 10 6.41026 TMPRSS12 0 genome.wustl.edu 37 12 51279034 51279034 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 51279034 51279034 G A SNP TMPRSS12 ENST00000398458 human ensembl 74_37 +1 known missense c.658 p.A220T 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS12 HGNC ENSG00000186452 63 0 0 16 10 38.4615 ACVR1B 0 genome.wustl.edu 37 12 52385715 52385715 + Nonsense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 52385715 52385715 C T SNP ACVR1B ENST00000257963 human ensembl 74_37 +1 known nonsense c.1330 p.R444* 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_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ACVR1B HGNC ENSG00000135503 134 0 0 49 37 43.0233 SOAT2 0 genome.wustl.edu 37 12 53516883 53516883 + Nonsense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 53516883 53516883 C T SNP SOAT2 ENST00000301466 human ensembl 74_37 +1 known nonsense c.1255 p.R419* 0.926 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors SOAT2 HGNC ENSG00000167780 27 0 0 7 4 36.3636 HOXC12 0 genome.wustl.edu 37 12 54348881 54348881 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 54348881 54348881 G A SNP HOXC12 ENST00000243103 human ensembl 74_37 +1 known silent c.168 p.P56 0.991 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXC12 HGNC ENSG00000123407 22 0 0 16 8 33.3333 HOXC5 0 genome.wustl.edu 37 12 54428224 54428224 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 54428224 54428224 G A SNP HOXC5 ENST00000312492 human ensembl 74_37 +1 known missense c.617 p.R206H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXC5 HGNC ENSG00000172789 64 0 0 37 12 24.4898 ZNF385A 0 genome.wustl.edu 37 12 54764440 54764440 + Missense_Mutation SNP G G C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 54764440 54764440 G C SNP ZNF385A ENST00000338010 human ensembl 74_37 -1 known missense c.900 p.H300Q 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385A HGNC ENSG00000161642 13 0 0 6 5 45.4545 ZNF385A 0 genome.wustl.edu 37 12 54764723 54764723 + Silent SNP G G C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 54764723 54764723 G C SNP ZNF385A ENST00000338010 human ensembl 74_37 -1 known silent c.822 p.V274 1.000 pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385A HGNC ENSG00000161642 130 0 0 35 30 46.1538 ZNF385A 0 genome.wustl.edu 37 12 54764782 54764782 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 54764782 54764782 G A SNP ZNF385A ENST00000338010 human ensembl 74_37 -1 known missense c.763 p.P255S 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385A HGNC ENSG00000161642 124 0 0 31 31 50 ZNF385A 0 genome.wustl.edu 37 12 54764831 54764831 + Missense_Mutation SNP G G C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 54764831 54764831 G C SNP ZNF385A ENST00000338010 human ensembl 74_37 -1 known missense c.714 p.I238M 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385A HGNC ENSG00000161642 93 0 0 32 19 37.2549 ZNF385A 0 genome.wustl.edu 37 12 54765308 54765308 + Missense_Mutation SNP G G C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 54765308 54765308 G C SNP ZNF385A ENST00000338010 human ensembl 74_37 -1 known missense c.613 p.L205V 1.000 smart_Znf_U1,smart_Znf_C2H2-like pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385A HGNC ENSG00000161642 144 0 0 41 32 43.8356 DCD 0 genome.wustl.edu 37 12 55038966 55038966 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 55038966 55038966 C T SNP DCD ENST00000293371 human ensembl 74_37 -1 known missense c.280 p.V94M 0.000 NULL NULL - no_errors DCD HGNC ENSG00000161634 61 0 0 34 10 22.7273 LRP1 0 genome.wustl.edu 37 12 57569406 57569406 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 57569406 57569406 C T SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known silent c.3711 p.C1237 0.852 smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 75 0 0 71 18 20.2247 CHD4 0 genome.wustl.edu 37 12 6709750 6709750 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 6709750 6709750 C T SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known missense c.1013 p.R338H 1.000 superfamily_Znf_FYVE_PHD pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 82 0 0 45 17 27.4194 SLC6A15 0 genome.wustl.edu 37 12 85279797 85279797 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 85279797 85279797 G A SNP SLC6A15 ENST00000266682 human ensembl 74_37 -1 known missense c.340 p.L114F 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A15 HGNC ENSG00000072041 85 0 0 22 23 51.1111 A2ML1 0 genome.wustl.edu 37 12 9001489 9001489 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 9001489 9001489 G A SNP A2ML1 ENST00000299698 human ensembl 74_37 +1 known silent c.2007 p.T669 0.000 NULL pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors A2ML1 HGNC ENSG00000166535 166 0 0 110 46 29.4872 DCN 0 genome.wustl.edu 37 12 91550892 91550892 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 91550892 91550892 G A SNP DCN ENST00000052754 human ensembl 74_37 -1 known silent c.612 p.Y204 1.000 pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors DCN HGNC ENSG00000011465 112 0 0 82 11 11.828 METTL21C 0 genome.wustl.edu 37 13 103339401 103339401 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 13 103339401 103339401 C A SNP METTL21C ENST00000267273 human ensembl 74_37 -1 known missense c.289 p.A97S 0.997 pfam_Nicotinamide_N-MeTfrase-like pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL21C HGNC ENSG00000139780 74 0 0 32 14 30.4348 SLC10A2 0 genome.wustl.edu 37 13 103703660 103703660 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 13 103703660 103703660 C T SNP SLC10A2 ENST00000245312 human ensembl 74_37 -1 known silent c.708 p.A236 0.028 tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A2 HGNC ENSG00000125255 124 0 0 94 32 25.3968 FAM155A 0 genome.wustl.edu 37 13 107822911 107822911 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 13 107822911 107822911 C A SNP FAM155A ENST00000375915 human ensembl 74_37 -1 known missense c.1311 p.Q437H 0.998 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 63 0 0 50 22 30.5556 MYO16 0 genome.wustl.edu 37 13 109661297 109661297 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 13 109661297 109661297 T C SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.2429 p.L810P 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 57 0 0 47 17 26.5625 C1QTNF9B 0 genome.wustl.edu 37 13 24465898 24465898 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 13 24465898 24465898 G A SNP C1QTNF9B ENST00000382137 human ensembl 74_37 -1 known missense c.532 p.R178W 0.993 pfam_Collagen pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF9B HGNC ENSG00000205863 50 0 0 40 7 14.8936 AMER2 0 genome.wustl.edu 37 13 25745468 25745468 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 13 25745468 25745468 G A SNP AMER2 ENST00000515384 human ensembl 74_37 -1 known missense c.290 p.P97L 0.173 NULL pfam_Uncharacterised_FAM123 - no_errors AMER2 HGNC ENSG00000165566 57 0 0 29 17 36.9565 FLT3 0 genome.wustl.edu 37 13 28597513 28597513 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 13 28597513 28597513 C T SNP FLT3 ENST00000380982 human ensembl 74_37 -1 known missense c.2392 p.G798R 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FLT3 HGNC ENSG00000122025 39 0 0 26 7 21.2121 N4BP2L2 0 genome.wustl.edu 37 13 33017425 33017425 + Nonsense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 13 33017425 33017425 G A SNP N4BP2L2 ENST00000399396 human ensembl 74_37 -1 known nonsense c.1249 p.Q417* 0.001 NULL superfamily_P-loop_NTPase - no_errors N4BP2L2 HGNC ENSG00000244754 97 0 0 70 29 29.2929 STARD13 0 genome.wustl.edu 37 13 33684151 33684151 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 13 33684151 33684151 C A SNP STARD13 ENST00000336934 human ensembl 74_37 -1 known missense c.2906 p.R969L 1.000 pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD13 HGNC ENSG00000133121 72 0 0 69 23 25 VWA8 0 genome.wustl.edu 37 13 42189137 42189137 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 13 42189137 42189137 G A SNP VWA8 ENST00000379310 human ensembl 74_37 -1 known silent c.4695 p.G1565 0.154 NULL pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 64 0 0 60 23 27.7108 LRCH1 0 genome.wustl.edu 37 13 47315868 47315868 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 13 47315868 47315868 C T SNP LRCH1 ENST00000389798 human ensembl 74_37 +1 known missense c.2072 p.A691V 1.000 superfamily_CH-domain pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH1 HGNC ENSG00000136141 466 2 0.42735 322 136 29.6943 PCDH8 0 genome.wustl.edu 37 13 53421242 53421242 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 13 53421242 53421242 C T SNP PCDH8 ENST00000377942 human ensembl 74_37 -1 known missense c.1330 p.A444T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH8 HGNC ENSG00000136099 8 0 0 8 3 27.2727 PCDH9 0 genome.wustl.edu 37 13 67801679 67801679 + Silent SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 13 67801679 67801679 T C SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known silent c.894 p.A298 0.993 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 108 0 0 65 31 32.2917 EML1 0 genome.wustl.edu 37 14 100363543 100363543 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 14 100363543 100363543 G A SNP EML1 ENST00000334192 human ensembl 74_37 +1 known missense c.796 p.V266I 1.000 pfam_HELP,superfamily_Quinonprotein_ADH-like_supfam pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML1 HGNC ENSG00000066629 102 0 0 48 31 39.2405 SLC39A2 0 genome.wustl.edu 37 14 21469346 21469346 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 14 21469346 21469346 G T SNP SLC39A2 ENST00000298681 human ensembl 74_37 +1 known missense c.538 p.G180W 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A2 HGNC ENSG00000165794 80 0 0 51 23 31.0811 HNRNPC 0 genome.wustl.edu 37 14 21681143 21681143 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 14 21681143 21681143 G A SNP HNRNPC ENST00000320084 human ensembl 74_37 -1 known missense c.538 p.R180W 0.999 superfamily_Regulat_G_prot_signal_superfam,pirsf_hnRNP_C_Raly pfam_RRM_dom,superfamily_Regulat_G_prot_signal_superfam,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors HNRNPC HGNC ENSG00000092199 201 0 0 156 53 25.3589 MYH6 0 genome.wustl.edu 37 14 23853917 23853917 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 14 23853917 23853917 T C SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known missense c.5299 p.M1767V 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 93 0 0 74 11 12.9412 PSME1 0 genome.wustl.edu 37 14 24606965 24606965 + Missense_Mutation SNP T T G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 14 24606965 24606965 T G SNP PSME1 ENST00000382708 human ensembl 74_37 +1 known missense c.349 p.L117V 0.913 pfam_Proteasome_activ_pa28_C,superfamily_Proteasome_activ_pa28 pfam_Proteasome_activ_pa28_C,pfam_Proteasome_activ_pa28_N,superfamily_Proteasome_activ_pa28 - no_errors PSME1 HGNC ENSG00000092010 83 0 0 89 6 6.31579 FOXG1 0 genome.wustl.edu 37 14 29237784 29237784 + Silent SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 14 29237784 29237784 C A SNP FOXG1 ENST00000313071 human ensembl 74_37 +1 known silent c.1299 p.S433 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXG1 HGNC ENSG00000176165 57 0 0 28 11 28.2051 FAM179B 0 genome.wustl.edu 37 14 45432820 45432820 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 14 45432820 45432820 T C SNP FAM179B ENST00000361577 human ensembl 74_37 +1 known missense c.1196 p.L399P 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 73 0 0 52 14 21.2121 DACT1 0 genome.wustl.edu 37 14 59112499 59112499 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 14 59112499 59112499 G T SNP DACT1 ENST00000335867 human ensembl 74_37 +1 known missense c.1158 p.Q386H 0.003 NULL NULL - no_errors DACT1 HGNC ENSG00000165617 70 0 0 54 16 22.8571 SIX1 0 genome.wustl.edu 37 14 61115476 61115476 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 14 61115476 61115476 C T SNP SIX1 ENST00000247182 human ensembl 74_37 -1 known silent c.432 p.A144 0.972 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX1 HGNC ENSG00000126778 72 0 0 54 18 25 SYNE2 0 genome.wustl.edu 37 14 64465745 64465745 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 14 64465745 64465745 T C SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.3467 p.L1156P 0.978 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 55 0 0 44 5 10.2041 SYNE2 0 genome.wustl.edu 37 14 64644169 64644169 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 14 64644169 64644169 G A SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.17524 p.E5842K 1.000 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 94 0 0 67 20 22.9885 SYNE2 0 genome.wustl.edu 37 14 64692078 64692078 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 14 64692078 64692078 G A SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.20558 p.R6853K 0.999 pfam_KASH,pfscan_KASH pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 55 0 0 43 12 21.8182 SPTB 0 genome.wustl.edu 37 14 65252572 65252572 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 14 65252572 65252572 T C SNP SPTB ENST00000389722 human ensembl 74_37 -1 known missense c.3659 p.N1220S 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 194 0 0 155 53 25.4808 FUT8 0 genome.wustl.edu 37 14 66136109 66136109 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 14 66136109 66136109 G A SNP FUT8 ENST00000360689 human ensembl 74_37 +1 known missense c.746 p.R249H 1.000 pirsf_Alpha1_6FUT_euk superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk - no_errors FUT8 HGNC ENSG00000033170 75 0 0 57 22 27.8481 GPHN 0 genome.wustl.edu 37 14 67576930 67576930 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 14 67576930 67576930 C T SNP GPHN ENST00000478722 human ensembl 74_37 +1 known missense c.1367 p.A456V 1.000 pfam_MoeA_linker/N,superfamily_MoeA_linker/N pfam_Mopterin-bd_dom,pfam_MoeA_linker/N,pfam_MoeA_C_domain_IV,superfamily_MoeA_linker/N,superfamily_Mopterin-bd_dom,superfamily_MoeA_C_domain_IV,smart_Mopterin-bd_dom,tigrfam_Mo_cofactor_synthesis - no_errors GPHN HGNC ENSG00000171723 204 0 0 120 61 33.7017 RGS6 0 genome.wustl.edu 37 14 72976872 72976872 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 14 72976872 72976872 A G SNP RGS6 ENST00000553525 human ensembl 74_37 +1 known missense c.976 p.S326G 1.000 superfamily_Regulat_G_prot_signal_superfam pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS6 HGNC ENSG00000182732 146 0 0 101 16 13.6752 FLRT2 0 genome.wustl.edu 37 14 86089465 86089465 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 14 86089465 86089465 G A SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known missense c.1607 p.S536N 0.999 NULL pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 99 0 0 71 32 31.068 KCNK13 0 genome.wustl.edu 37 14 90651177 90651177 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 14 90651177 90651177 C T SNP KCNK13 ENST00000282146 human ensembl 74_37 +1 known silent c.1057 p.L353 0.733 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 74 0 0 47 13 21.6667 SMEK1 0 genome.wustl.edu 37 14 91942165 91942165 + Missense_Mutation SNP A A T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 14 91942165 91942165 A T SNP SMEK1 ENST00000554943 human ensembl 74_37 -1 known missense c.1256 p.I419K 1.000 superfamily_ARM-type_fold pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK1 HGNC ENSG00000100796 45 0 0 23 10 30.303 TRIP11 0 genome.wustl.edu 37 14 92472038 92472038 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 14 92472038 92472038 T C SNP TRIP11 ENST00000267622 human ensembl 74_37 -1 known missense c.2282 p.H761R 0.961 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC ENSG00000100815 205 0 0 138 28 16.8675 ITPK1 0 genome.wustl.edu 37 14 93424683 93424683 + Missense_Mutation SNP A A C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 14 93424683 93424683 A C SNP ITPK1 ENST00000267615 human ensembl 74_37 -1 known missense c.533 p.L178R 1.000 pfam_Inositol_tetrakis-P_1-kinase pfam_Inositol_tetrakis-P_1-kinase - no_errors ITPK1 HGNC ENSG00000100605 65 0 0 49 20 28.9855 FAM181A 0 genome.wustl.edu 37 14 94395175 94395175 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 14 94395175 94395175 A G SNP FAM181A ENST00000267594 human ensembl 74_37 +1 known missense c.730 p.T244A 0.000 NULL NULL - no_errors FAM181A HGNC ENSG00000140067 29 0 0 19 13 40.625 SYNE3 0 genome.wustl.edu 37 14 95922000 95922000 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 14 95922000 95922000 G A SNP SYNE3 ENST00000334258 human ensembl 74_37 -1 known missense c.851 p.A284V 0.000 smart_Spectrin/alpha-actinin pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC ENSG00000176438 135 0 0 117 27 18.75 MEF2A 0 genome.wustl.edu 37 15 100250898 100250898 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 15 100250898 100250898 C T SNP MEF2A ENST00000338042 human ensembl 74_37 +1 known silent c.1072 p.L358 1.000 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2A HGNC ENSG00000068305 27 0 0 18 8 30.7692 SNORD116-19 0 genome.wustl.edu 37 15 25331742 25331742 + RNA SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 15 25331742 25331742 G T SNP SNORD116-19 ENST00000384729 human ensembl 74_37 +1 known rna NULL NULL 0.019 - - - no_errors SNORD116-19 HGNC ENSG00000207460 227 0 0 78 49 38.5827 HERC2 0 genome.wustl.edu 37 15 28408263 28408263 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 15 28408263 28408263 C T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.10723 p.G3575S 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 115 0 0 71 27 27.551 HERC2 0 genome.wustl.edu 37 15 28437159 28437159 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 15 28437159 28437159 C T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.8399 p.R2800H 1.000 superfamily_Galactose-bd-like 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 147 1 0.675676 116 53 31.3609 CHRNA7 0 genome.wustl.edu 37 15 32460269 32460269 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 15 32460269 32460269 C T SNP CHRNA7 ENST00000454250 human ensembl 74_37 +1 known silent c.1206 p.A402 0.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA7 HGNC ENSG00000175344 50 0 0 50 9 15.2542 MEIS2 0 genome.wustl.edu 37 15 37184485 37184485 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 15 37184485 37184485 G A SNP MEIS2 ENST00000561208 human ensembl 74_37 -1 known silent c.1323 p.H441 1.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MEIS2 HGNC ENSG00000134138 418 2 0.47619 277 111 28.6082 SPRED1 0 genome.wustl.edu 37 15 38614539 38614539 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 15 38614539 38614539 C T SNP SPRED1 ENST00000299084 human ensembl 74_37 +1 known missense c.305 p.T102M 1.000 pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED1 HGNC ENSG00000166068 135 0 0 79 19 19.3878 EIF2AK4 0 genome.wustl.edu 37 15 40322596 40322596 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 15 40322596 40322596 T C SNP EIF2AK4 ENST00000263791 human ensembl 74_37 +1 known missense c.4598 p.I1533T 0.036 pirsf_Ser/Thr_kinase_GCN2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_dom - no_errors EIF2AK4 HGNC ENSG00000128829 33 0 0 22 6 21.4286 CASC5 0 genome.wustl.edu 37 15 40937929 40937929 + Nonsense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 15 40937929 40937929 G T SNP CASC5 ENST00000346991 human ensembl 74_37 +1 known nonsense c.6043 p.G2015* 1.000 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 39 0 0 20 4 16.6667 MAPKBP1 0 genome.wustl.edu 37 15 42106789 42106789 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 15 42106789 42106789 C T SNP MAPKBP1 ENST00000456763 human ensembl 74_37 +1 known missense c.1040 p.T347I 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MAPKBP1 HGNC ENSG00000137802 201 0 0 130 44 25.2874 SPTBN5 0 genome.wustl.edu 37 15 42150833 42150833 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 15 42150833 42150833 G A SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known silent c.8193 p.D2731 0.017 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 19 0 0 21 4 16 ENSG00000258461 0 genome.wustl.edu 37 15 42694347 42694347 + RNA SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 15 42694347 42694347 A G SNP ENSG00000258461 ENST00000483208 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors RP11-164J13.1 Clone_based_vega_gene ENSG00000258461 103 0 0 65 24 26.9663 UBR1 0 genome.wustl.edu 37 15 43317086 43317086 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 15 43317086 43317086 C T SNP UBR1 ENST00000290650 human ensembl 74_37 -1 known missense c.2680 p.V894I 0.997 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR1 HGNC ENSG00000159459 178 0 0 174 11 5.94595 GLDN 0 genome.wustl.edu 37 15 51634200 51634200 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 15 51634200 51634200 G A SNP GLDN ENST00000335449 human ensembl 74_37 +1 known missense c.319 p.E107K 0.759 NULL pfam_Olfac-like,pfam_Collagen,smart_Olfac-like,pfscan_Olfac-like - no_errors GLDN HGNC ENSG00000186417 82 0 0 75 26 25.7426 WDR72 0 genome.wustl.edu 37 15 54025291 54025291 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 15 54025291 54025291 C T SNP WDR72 ENST00000360509 human ensembl 74_37 -1 known missense c.56 p.S19N 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC ENSG00000166415 101 0 0 91 30 24.7934 UNC13C 0 genome.wustl.edu 37 15 54307129 54307129 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 15 54307129 54307129 G A SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.2029 p.D677N 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 72 0 0 41 27 39.7059 SLTM 0 genome.wustl.edu 37 15 59180672 59180672 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 15 59180672 59180672 G A SNP SLTM ENST00000380516 human ensembl 74_37 -1 known missense c.2287 p.R763C 1.000 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SLTM HGNC ENSG00000137776 88 0 0 56 33 37.0787 GOLGA6B 0 genome.wustl.edu 37 15 72954989 72954989 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 15 72954989 72954989 G T SNP GOLGA6B ENST00000421285 human ensembl 74_37 +1 known missense c.1244 p.R415M 0.914 NULL NULL - no_errors GOLGA6B HGNC ENSG00000215186 13 0 0 7 3 30 PML 0 genome.wustl.edu 37 15 74337044 74337044 + Nonsense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 15 74337044 74337044 C T SNP PML ENST00000268058 human ensembl 74_37 +1 known nonsense c.2344 p.Q782* 1.000 NULL pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 34 0 0 26 4 13.3333 DNAJA4 0 genome.wustl.edu 37 15 78568023 78568023 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 15 78568023 78568023 C T SNP DNAJA4 ENST00000394855 human ensembl 74_37 +1 known missense c.917 p.T306M 0.998 pfam_DnaJ_C,superfamily_HSP40/DnaJ_pept-bd pfam_DnaJ_domain,pfam_DnaJ_C,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 DNAJA4 HGNC ENSG00000140403 33 0 0 22 7 24.1379 C15orf37 0 genome.wustl.edu 37 15 80215330 80215330 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 15 80215330 80215330 C A SNP C15orf37 ENST00000560255 human ensembl 74_37 +1 known missense c.215 p.T72N 0.520 NULL NULL - no_errors C15orf37 HGNC ENSG00000259642 44 0 0 40 10 20 KIAA1199 0 genome.wustl.edu 37 15 81234667 81234667 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 15 81234667 81234667 G A SNP KIAA1199 ENST00000220244 human ensembl 74_37 +1 known missense c.3688 p.A1230T 0.959 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 58 0 0 44 16 26.6667 TMC3 0 genome.wustl.edu 37 15 81627235 81627235 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 15 81627235 81627235 G A SNP TMC3 ENST00000359440 human ensembl 74_37 -1 known missense c.2285 p.S762L 0.013 NULL pfam_TMC - no_errors TMC3 HGNC ENSG00000188869 71 0 0 56 12 17.6471 DET1 0 genome.wustl.edu 37 15 89074847 89074847 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 15 89074847 89074847 G A SNP DET1 ENST00000444300 human ensembl 74_37 -1 known silent c.123 p.G41 1.000 NULL pfam_De-etiolated_protein_1_Det1 - no_errors DET1 HGNC ENSG00000140543 140 0 0 111 42 27.451 IQGAP1 0 genome.wustl.edu 37 15 91040462 91040462 + Splice_Site SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 15 91040462 91040462 A G SNP IQGAP1 ENST00000268182 human ensembl 74_37 +1 known splice_site c.4752-2 e37-2 1.000 - - - no_errors IQGAP1 HGNC ENSG00000140575 38 0 0 19 3 13.6364 MCTP2 0 genome.wustl.edu 37 15 94901733 94901733 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 15 94901733 94901733 C T SNP MCTP2 ENST00000357742 human ensembl 74_37 +1 known missense c.1193 p.P398L 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors MCTP2 HGNC ENSG00000140563 67 0 0 66 6 8.33333 CPPED1 0 genome.wustl.edu 37 16 12798506 12798506 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 12798506 12798506 C A SNP CPPED1 ENST00000381774 human ensembl 74_37 -1 known missense c.690 p.K230N 0.045 pfam_PEstase_dom pfam_PEstase_dom - no_errors CPPED1 HGNC ENSG00000103381 115 0 0 85 36 29.7521 NPIPP1 0 genome.wustl.edu 37 16 15204394 15204394 + RNA SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 15204394 15204394 T C SNP NPIPP1 ENST00000448011 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NPIPP1 HGNC ENSG00000188599 67 0 0 54 9 14.2857 MEIOB 0 genome.wustl.edu 37 16 1889367 1889367 + Missense_Mutation SNP A A C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 1889367 1889367 A C SNP MEIOB ENST00000325962 human ensembl 74_37 -1 known missense c.1107 p.F369L 0.000 superfamily_NA-bd_OB-fold superfamily_NA-bd_OB-fold - no_errors MEIOB HGNC ENSG00000162039 41 0 0 33 5 13.1579 PKD1 0 genome.wustl.edu 37 16 2142501 2142501 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 2142501 2142501 C T SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.11249 p.R3750Q 1.000 pfam_PKD1_2_channel pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 33 0 0 29 2 6.45161 CDR2 0 genome.wustl.edu 37 16 22358554 22358554 + Missense_Mutation SNP T T G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 22358554 22358554 T G SNP CDR2 ENST00000268383 human ensembl 74_37 -1 known missense c.1097 p.K366T 0.856 NULL NULL - no_errors CDR2 HGNC ENSG00000140743 74 0 0 65 17 20.7317 E4F1 0 genome.wustl.edu 37 16 2285460 2285460 + Nonsense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 2285460 2285460 C T SNP E4F1 ENST00000301727 human ensembl 74_37 +1 known nonsense c.2242 p.Q748* 0.992 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors E4F1 HGNC ENSG00000167967 20 0 0 15 7 31.8182 HS3ST4 0 genome.wustl.edu 37 16 26146979 26146979 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 26146979 26146979 A G SNP HS3ST4 ENST00000331351 human ensembl 74_37 +1 known missense c.781 p.T261A 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST4 HGNC ENSG00000182601 60 0 0 30 11 26.8293 SPNS1 0 genome.wustl.edu 37 16 28993369 28993369 + Silent SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 28993369 28993369 C A SNP SPNS1 ENST00000311008 human ensembl 74_37 +1 known silent c.957 p.S319 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS1 HGNC ENSG00000169682 19 0 0 14 5 26.3158 MAZ 0 genome.wustl.edu 37 16 29821503 29821503 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 29821503 29821503 C T SNP MAZ ENST00000322945 human ensembl 74_37 +1 known missense c.1385 p.A462V 0.997 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MAZ HGNC ENSG00000103495 9 0 0 7 5 41.6667 PRRT2 0 genome.wustl.edu 37 16 29825015 29825015 + Missense_Mutation SNP G G C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 29825015 29825015 G C SNP PRRT2 ENST00000567659 human ensembl 74_37 +1 known missense c.640 p.A214P 1.000 NULL pfam_CD225/Dispanin_fam - no_errors PRRT2 HGNC ENSG00000167371 19 0 0 15 6 28.5714 CORO1A 0 genome.wustl.edu 37 16 30198745 30198745 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 30198745 30198745 G A SNP CORO1A ENST00000219150 human ensembl 74_37 +1 known missense c.679 p.V227M 0.735 NULL pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1A HGNC ENSG00000102879 51 0 0 35 15 30 ZNF689 0 genome.wustl.edu 37 16 30616501 30616501 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 30616501 30616501 C T SNP ZNF689 ENST00000287461 human ensembl 74_37 -1 known missense c.587 p.R196Q 0.975 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 ZNF689 HGNC ENSG00000156853 58 0 0 38 16 29.6296 RNF40 0 genome.wustl.edu 37 16 30777494 30777494 + Missense_Mutation SNP T T A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 30777494 30777494 T A SNP RNF40 ENST00000324685 human ensembl 74_37 +1 known missense c.1004 p.L335Q 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC ENSG00000103549 89 0 0 47 30 38.961 ZNF629 0 genome.wustl.edu 37 16 30794713 30794713 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 30794713 30794713 G A SNP ZNF629 ENST00000262525 human ensembl 74_37 -1 known silent c.936 p.H312 0.986 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF629 HGNC ENSG00000102870 91 0 0 86 5 5.49451 ZNF629 0 genome.wustl.edu 37 16 30795016 30795016 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 30795016 30795016 G A SNP ZNF629 ENST00000262525 human ensembl 74_37 -1 known silent c.633 p.C211 0.990 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF629 HGNC ENSG00000102870 43 0 0 35 8 18.6047 ZNF423 0 genome.wustl.edu 37 16 49670324 49670324 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 49670324 49670324 C T SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known silent c.2739 p.P913 0.008 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 80 0 0 43 26 37.6812 ADCY7 0 genome.wustl.edu 37 16 50338342 50338342 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 50338342 50338342 G A SNP ADCY7 ENST00000254235 human ensembl 74_37 +1 known silent c.1440 p.A480 0.513 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 71 0 0 40 7 14.8936 SNX20 0 genome.wustl.edu 37 16 50711346 50711346 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 50711346 50711346 C T SNP SNX20 ENST00000330943 human ensembl 74_37 -1 known missense c.92 p.G31D 0.008 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX20 HGNC ENSG00000167208 99 0 0 45 13 22.4138 GPR56 0 genome.wustl.edu 37 16 57690467 57690467 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 57690467 57690467 G A SNP GPR56 ENST00000379696 human ensembl 74_37 +1 known missense c.1105 p.V369I 0.000 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR56 HGNC ENSG00000205336 176 0 0 73 48 39.6694 GFOD2 0 genome.wustl.edu 37 16 67709273 67709273 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 67709273 67709273 G A SNP GFOD2 ENST00000268797 human ensembl 74_37 -1 known missense c.943 p.R315C 1.000 NULL pfam_Oxidoreductase_N - no_errors GFOD2 HGNC ENSG00000141098 89 0 0 79 8 9.1954 COG4 0 genome.wustl.edu 37 16 70542363 70542363 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 70542363 70542363 C T SNP COG4 ENST00000323786 human ensembl 74_37 -1 known missense c.1007 p.R336Q 1.000 pfam_COG_su4,smart_COG_su4 pfam_COG_su4,smart_COG_su4 - no_errors COG4 HGNC ENSG00000103051 92 0 0 68 13 16.0494 HYDIN 0 genome.wustl.edu 37 16 70972545 70972545 + Nonsense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 70972545 70972545 G A SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative nonsense c.6967 p.Q2323* 0.096 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 18 0 0 11 4 26.6667 HYDIN 0 genome.wustl.edu 37 16 71054191 71054191 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 71054191 71054191 G A SNP HYDIN ENST00000448089 human ensembl 74_37 -1 known silent c.3072 p.Y1024 0.933 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 58 0 0 24 13 35.1351 CALB2 0 genome.wustl.edu 37 16 71423676 71423676 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 71423676 71423676 A G SNP CALB2 ENST00000302628 human ensembl 74_37 +1 known missense c.724 p.N242D 0.897 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALB2 HGNC ENSG00000172137 194 0 0 136 67 33.0049 RHOT2 0 genome.wustl.edu 37 16 720944 720944 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 720944 720944 C T SNP RHOT2 ENST00000315082 human ensembl 74_37 +1 known missense c.692 p.T231M 0.994 pirsf_Rho_GTPase_Mt,pfam_EF_hand_assoc_2 pirsf_Rho_GTPase_Mt,pfam_EF_hand_assoc_2,pfam_MIRO-like,pfam_EF_hand_assoc_1,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,pfscan_EF_hand_dom - no_errors RHOT2 HGNC ENSG00000140983 37 0 0 26 6 18.75 PMFBP1 0 genome.wustl.edu 37 16 72184645 72184645 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 72184645 72184645 C A SNP PMFBP1 ENST00000537465 human ensembl 74_37 -1 known missense c.498 p.L166F 1.000 NULL NULL - no_errors PMFBP1 HGNC ENSG00000118557 101 0 0 95 5 5 RBFOX1 0 genome.wustl.edu 37 16 7645563 7645563 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 7645563 7645563 G A SNP RBFOX1 ENST00000547372 human ensembl 74_37 +1 known missense c.610 p.V204I 1.000 pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 119 0 0 98 42 30 CCDC78 0 genome.wustl.edu 37 16 773012 773012 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 773012 773012 T C SNP CCDC78 ENST00000293889 human ensembl 74_37 -1 known missense c.1207 p.N403D 0.986 NULL NULL - no_errors CCDC78 HGNC ENSG00000162004 63 0 0 38 16 29.6296 ADAMTS18 0 genome.wustl.edu 37 16 77369762 77369762 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 77369762 77369762 C T SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.1750 p.G584R 1.000 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 187 0 0 78 62 44.2857 KCNG4 0 genome.wustl.edu 37 16 84270710 84270710 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 84270710 84270710 C T SNP KCNG4 ENST00000308251 human ensembl 74_37 -1 known missense c.382 p.A128T 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG4 HGNC ENSG00000168418 41 0 0 27 5 15.625 ZFPM1 0 genome.wustl.edu 37 16 88600773 88600773 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 88600773 88600773 C T SNP ZFPM1 ENST00000319555 human ensembl 74_37 +1 known missense c.2407 p.R803C 0.085 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM1 HGNC ENSG00000179588 11 0 0 7 4 36.3636 CBFA2T3 0 genome.wustl.edu 37 16 88945788 88945788 + Nonsense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 88945788 88945788 C A SNP CBFA2T3 ENST00000268679 human ensembl 74_37 -1 known nonsense c.1552 p.E518* 1.000 prints_ETO pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16 - no_errors CBFA2T3 HGNC ENSG00000129993 41 0 0 36 14 28 MYH13 0 genome.wustl.edu 37 17 10219039 10219039 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 10219039 10219039 G T SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known missense c.3955 p.L1319I 0.998 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 23 0 0 24 4 14.2857 TRPV2 0 genome.wustl.edu 37 17 16330184 16330184 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 16330184 16330184 T C SNP TRPV2 ENST00000338560 human ensembl 74_37 +1 known missense c.1244 p.L415P 1.000 prints_TRPV1-4_channel,tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV2 HGNC ENSG00000187688 66 0 0 46 20 30.303 TNFRSF13B 0 genome.wustl.edu 37 17 16843774 16843774 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 16843774 16843774 G A SNP TNFRSF13B ENST00000261652 human ensembl 74_37 -1 known missense c.497 p.T166M 0.767 NULL pfam_TACI_Cys-rich-dom,prints_TNFR_13B - no_errors TNFRSF13B HGNC ENSG00000240505 39 0 0 26 14 35 RAI1 0 genome.wustl.edu 37 17 17698668 17698668 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 17698668 17698668 G T SNP RAI1 ENST00000353383 human ensembl 74_37 +1 known missense c.2406 p.K802N 0.959 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 20 0 0 14 8 36.3636 FLII 0 genome.wustl.edu 37 17 18152659 18152659 + Missense_Mutation SNP C C G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 18152659 18152659 C G SNP FLII ENST00000327031 human ensembl 74_37 -1 known missense c.1840 p.D614H 1.000 NULL pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors FLII HGNC ENSG00000177731 57 0 0 54 4 6.89655 USP32P2 0 genome.wustl.edu 37 17 18416689 18416689 + RNA SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 18416689 18416689 C T SNP USP32P2 ENST00000412260 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors USP32P2 HGNC ENSG00000233327 38 0 0 10 29 74.359 RNF112 0 genome.wustl.edu 37 17 19318422 19318422 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 19318422 19318422 G A SNP RNF112 ENST00000461366 human ensembl 74_37 +1 novel missense c.1198 p.A400T 0.935 NULL pfam_Guanylate-bd_N,superfamily_P-loop_NTPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF112 HGNC ENSG00000128482 32 0 0 10 10 50 SPECC1 0 genome.wustl.edu 37 17 20109083 20109083 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 20109083 20109083 C T SNP SPECC1 ENST00000261503 human ensembl 74_37 +1 known missense c.1721 p.T574M 0.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC ENSG00000128487 62 0 0 48 15 23.8095 LOC440416 0 genome.wustl.edu 37 17 20806031 20806031 + RNA SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 20806031 20806031 G A SNP LOC440416 ENST00000577537 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors RP11-344E13.3 Clone_based_vega_gene ENSG00000233098 9 0 0 7 7 50 KCNJ12 0 genome.wustl.edu 37 17 21318767 21318767 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 21318767 21318767 C T SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known missense c.113 p.T38M 0.999 pfam_K_chnl_inward-rec_Kir_N,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 56 0 0 58 9 13.4328 SLC13A2 0 genome.wustl.edu 37 17 26822686 26822686 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 26822686 26822686 C T SNP SLC13A2 ENST00000444914 human ensembl 74_37 +1 known missense c.1469 p.S490L 1.000 pfam_Na/sul_symport,pfam_Cit_transptr-like_dom pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A2 HGNC ENSG00000007216 95 0 0 64 30 31.9149 ABHD15 0 genome.wustl.edu 37 17 27893168 27893168 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 27893168 27893168 C T SNP ABHD15 ENST00000307201 human ensembl 74_37 -1 known missense c.817 p.E273K 1.000 pirsf_AB-Hydro_YheT pirsf_AB-Hydro_YheT - no_errors ABHD15 HGNC ENSG00000168792 52 0 0 23 11 32.3529 ATAD5 0 genome.wustl.edu 37 17 29167732 29167732 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 29167732 29167732 C T SNP ATAD5 ENST00000321990 human ensembl 74_37 +1 known missense c.2174 p.A725V 0.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 123 0 0 58 29 33.3333 ATAD5 0 genome.wustl.edu 37 17 29220338 29220338 + Nonsense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 29220338 29220338 G A SNP ATAD5 ENST00000321990 human ensembl 74_37 +1 known nonsense c.4467 p.W1489* 1.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 238 0 0 108 48 30.7692 RHBDL3 0 genome.wustl.edu 37 17 30615897 30615897 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 30615897 30615897 G A SNP RHBDL3 ENST00000269051 human ensembl 74_37 +1 known silent c.381 p.K127 0.996 pirsf_Peptidase_S54_rhomboid_met pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met,pfscan_EF_hand_dom - no_errors RHBDL3 HGNC ENSG00000141314 42 0 0 21 9 30 ZNF207 0 genome.wustl.edu 37 17 30696741 30696741 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 30696741 30696741 T C SNP ZNF207 ENST00000394670 human ensembl 74_37 +1 known missense c.1448 p.M483T 1.000 NULL smart_Znf_C2H2-like - no_errors ZNF207 HGNC ENSG00000010244 62 0 0 49 16 24.6154 ATP6V0A1 0 genome.wustl.edu 37 17 40618475 40618475 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 40618475 40618475 G A SNP ATP6V0A1 ENST00000264649 human ensembl 74_37 +1 known missense c.146 p.R49Q 0.999 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A1 HGNC ENSG00000033627 73 0 0 48 3 5.88235 NAGLU 0 genome.wustl.edu 37 17 40690415 40690415 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 40690415 40690415 C T SNP NAGLU ENST00000225927 human ensembl 74_37 +1 known missense c.590 p.A197V 1.000 pfam_NAGLU_tim-barrel,superfamily_Glycoside_hydrolase_SF pfam_NAGLU_tim-barrel,superfamily_Glycoside_hydrolase_SF - no_errors NAGLU HGNC ENSG00000108784 156 0 0 107 48 30.9677 BECN1 0 genome.wustl.edu 37 17 40966560 40966560 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 40966560 40966560 A G SNP BECN1 ENST00000361523 human ensembl 74_37 -1 known missense c.962 p.M321T 1.000 pfam_Beclin_fam,superfamily_Translin pfam_Beclin_fam,superfamily_Translin - no_errors BECN1 HGNC ENSG00000126581 109 0 0 88 32 26.6667 AOC4P 0 genome.wustl.edu 37 17 41026151 41026151 + RNA SNP C C G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 41026151 41026151 C G SNP AOC4P ENST00000570207 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AOC4P HGNC ENSG00000260105 171 0 0 115 64 35.7542 AOC4P 0 genome.wustl.edu 37 17 41026250 41026250 + RNA SNP C C G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 41026250 41026250 C G SNP AOC4P ENST00000570207 human ensembl 74_37 +1 known rna NULL NULL 0.975 - - - no_errors AOC4P HGNC ENSG00000260105 49 0 0 33 14 29.7872 TMEM106A 0 genome.wustl.edu 37 17 41368528 41368528 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 41368528 41368528 G A SNP TMEM106A ENST00000331615 human ensembl 74_37 +1 known missense c.490 p.E164K 0.954 pfam_DUF1356_TMEM106 pfam_DUF1356_TMEM106 - no_errors TMEM106A HGNC ENSG00000184988 270 0 0 198 89 31.0105 MAPT 0 genome.wustl.edu 37 17 44101486 44101486 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 44101486 44101486 C T SNP MAPT ENST00000344290 human ensembl 74_37 +1 known silent c.2280 p.L760 0.104 NULL pfam_MAP_tubulin-bd_rpt,prints_Tau - no_errors MAPT HGNC ENSG00000186868 120 0 0 93 34 26.7717 MYBBP1A 0 genome.wustl.edu 37 17 4455891 4455891 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 4455891 4455891 G A SNP MYBBP1A ENST00000381556 human ensembl 74_37 -1 known missense c.592 p.P198S 0.999 pfam_DNA_pol_V,superfamily_ARM-type_fold pfam_DNA_pol_V,superfamily_ARM-type_fold - no_errors MYBBP1A HGNC ENSG00000132382 43 0 0 31 10 24.3902 OR4D2 0 genome.wustl.edu 37 17 56247325 56247325 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 56247325 56247325 C T SNP OR4D2 ENST00000545221 human ensembl 74_37 +1 known silent c.309 p.F103 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D2 HGNC ENSG00000255713 98 0 0 54 22 28.9474 HSF5 0 genome.wustl.edu 37 17 56557589 56557589 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 56557589 56557589 C T SNP HSF5 ENST00000323777 human ensembl 74_37 -1 known missense c.590 p.R197Q 1.000 NULL pfam_HSF_DNA-bd,smart_HSF_DNA-bd - no_errors HSF5 HGNC ENSG00000176160 78 0 0 53 23 30.2632 WSCD1 0 genome.wustl.edu 37 17 6023799 6023799 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 6023799 6023799 C T SNP WSCD1 ENST00000317744 human ensembl 74_37 +1 known missense c.1546 p.R516W 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_WSC_carb-bd,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD1 HGNC ENSG00000179314 54 0 0 47 17 26.5625 SMARCD2 0 genome.wustl.edu 37 17 61911083 61911083 + Splice_Site SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 61911083 61911083 C T SNP SMARCD2 ENST00000448276 human ensembl 74_37 -1 known splice_site c.1182-1 e10-1 1.000 - - - no_errors SMARCD2 HGNC ENSG00000108604 75 0 0 45 20 30.7692 SCN4A 0 genome.wustl.edu 37 17 62045681 62045681 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 62045681 62045681 C T SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known silent c.738 p.S246 0.248 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 103 0 0 67 26 27.957 ERN1 0 genome.wustl.edu 37 17 62144207 62144207 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 62144207 62144207 G A SNP ERN1 ENST00000433197 human ensembl 74_37 -1 known silent c.666 p.Y222 0.738 superfamily_Quinonprotein_ADH-like_supfam pfam_Prot_kinase_dom,pfam_KEN_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom - no_errors ERN1 HGNC ENSG00000178607 28 0 0 22 13 37.1429 PLEKHM1P 0 genome.wustl.edu 37 17 62796707 62796707 + RNA SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 62796707 62796707 C T SNP PLEKHM1P ENST00000578036 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors PLEKHM1P HGNC ENSG00000214176 46 0 0 38 15 28.3019 CEP112 0 genome.wustl.edu 37 17 64026051 64026051 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 64026051 64026051 C T SNP CEP112 ENST00000392769 human ensembl 74_37 -1 known missense c.1309 p.E437K 1.000 NULL superfamily_t-SNARE - no_errors CEP112 HGNC ENSG00000154240 75 0 0 34 14 29.1667 ABCA9 0 genome.wustl.edu 37 17 67024767 67024767 + Silent SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 67024767 67024767 A G SNP ABCA9 ENST00000340001 human ensembl 74_37 -1 known silent c.1524 p.Y508 0.998 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 83 0 0 73 6 7.59494 ABCA5 0 genome.wustl.edu 37 17 67251897 67251897 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 67251897 67251897 T C SNP ABCA5 ENST00000392677 human ensembl 74_37 -1 known missense c.3956 p.Y1319C 1.000 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 31 0 0 6 5 45.4545 ABCA5 0 genome.wustl.edu 37 17 67270228 67270228 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 67270228 67270228 A G SNP ABCA5 ENST00000392677 human ensembl 74_37 -1 known missense c.2636 p.M879T 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 47 0 0 21 5 19.2308 KCNJ16 0 genome.wustl.edu 37 17 68128892 68128892 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 68128892 68128892 C T SNP KCNJ16 ENST00000283936 human ensembl 74_37 +1 known missense c.664 p.R222C 0.231 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5,prints_K_chnl_inward-rec_Kir - no_errors KCNJ16 HGNC ENSG00000153822 56 0 0 28 19 40.4255 ASGR1 0 genome.wustl.edu 37 17 7077112 7077112 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 7077112 7077112 C T SNP ASGR1 ENST00000269299 human ensembl 74_37 -1 known missense c.742 p.G248R 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors ASGR1 HGNC ENSG00000141505 69 0 0 52 18 25.7143 OTOP2 0 genome.wustl.edu 37 17 72926834 72926834 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 72926834 72926834 C T SNP OTOP2 ENST00000331427 human ensembl 74_37 +1 known silent c.1104 p.D368 0.817 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP2 HGNC ENSG00000183034 69 0 0 43 25 36.7647 EVPL 0 genome.wustl.edu 37 17 74003904 74003904 + Silent SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 74003904 74003904 A G SNP EVPL ENST00000301607 human ensembl 74_37 -1 known silent c.5382 p.S1794 0.999 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 65 0 0 44 16 26.6667 TP53 0 genome.wustl.edu 37 17 7577523 7577523 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 7577523 7577523 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.758 p.T253I 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 73 0 0 43 35 44.8718 DNAH17 0 genome.wustl.edu 37 17 76482144 76482144 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 76482144 76482144 C A SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.7131 p.Q2377H 0.998 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 46 0 0 29 10 25.641 DNAH2 0 genome.wustl.edu 37 17 7681676 7681676 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 7681676 7681676 C T SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known silent c.5430 p.T1810 0.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 54 0 0 45 25 35.7143 NPTX1 0 genome.wustl.edu 37 17 78445606 78445606 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 78445606 78445606 C A SNP NPTX1 ENST00000306773 human ensembl 74_37 -1 known missense c.1003 p.G335C 0.992 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTX1 HGNC ENSG00000171246 58 0 0 44 4 8.33333 RPTOR 0 genome.wustl.edu 37 17 78867514 78867514 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 78867514 78867514 C T SNP RPTOR ENST00000306801 human ensembl 74_37 +1 known silent c.2250 p.G750 0.623 superfamily_ARM-type_fold pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 49 0 0 40 16 28.5714 GUCY2D 0 genome.wustl.edu 37 17 7907470 7907470 + Missense_Mutation SNP A A C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 7907470 7907470 A C SNP GUCY2D ENST00000254854 human ensembl 74_37 +1 known missense c.1022 p.Q341P 0.966 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors GUCY2D HGNC ENSG00000132518 16 0 0 17 6 26.087 AATK 0 genome.wustl.edu 37 17 79095065 79095065 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 79095065 79095065 G A SNP AATK ENST00000326724 human ensembl 74_37 -1 known missense c.2671 p.R891C 0.911 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AATK HGNC ENSG00000181409 29 0 0 11 7 38.8889 GPS1 0 genome.wustl.edu 37 17 80014952 80014952 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 80014952 80014952 G A SNP GPS1 ENST00000355130 human ensembl 74_37 +1 known silent c.1533 p.Q511 1.000 NULL pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom - no_errors GPS1 HGNC ENSG00000169727 100 0 0 56 25 30.8642 PER1 0 genome.wustl.edu 37 17 8053891 8053891 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 8053891 8053891 G A SNP PER1 ENST00000317276 human ensembl 74_37 -1 known missense c.134 p.T45I 0.948 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER1 HGNC ENSG00000179094 113 1 0.877193 71 40 36.036 PFAS 0 genome.wustl.edu 37 17 8170401 8170401 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 8170401 8170401 G A SNP PFAS ENST00000314666 human ensembl 74_37 +1 known missense c.3023 p.R1008Q 1.000 superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth - no_errors PFAS HGNC ENSG00000178921 26 0 0 21 11 34.375 ELP2 0 genome.wustl.edu 37 18 33726216 33726216 + Nonsense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 18 33726216 33726216 C T SNP ELP2 ENST00000358232 human ensembl 74_37 +1 known nonsense c.997 p.R333* 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ELP2 HGNC ENSG00000134759 212 0 0 198 11 5.26316 KIAA1328 0 genome.wustl.edu 37 18 34753044 34753044 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 18 34753044 34753044 G A SNP KIAA1328 ENST00000280020 human ensembl 74_37 +1 known missense c.1523 p.R508Q 0.940 NULL NULL - no_errors KIAA1328 HGNC ENSG00000150477 71 0 0 57 29 33.7209 CELF4 0 genome.wustl.edu 37 18 35145354 35145354 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 18 35145354 35145354 G A SNP CELF4 ENST00000420428 human ensembl 74_37 -1 known missense c.251 p.T84M 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF4 HGNC ENSG00000101489 116 0 0 67 34 33.6634 SETBP1 0 genome.wustl.edu 37 18 42531385 42531385 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 18 42531385 42531385 G T SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.2080 p.A694S 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 61 0 0 39 26 40 TCEB3B 0 genome.wustl.edu 37 18 44561456 44561456 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 18 44561456 44561456 C T SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known silent c.180 p.Q60 0.001 pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 14 0 0 13 3 18.75 WDR7 0 genome.wustl.edu 37 18 54446705 54446705 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 18 54446705 54446705 C A SNP WDR7 ENST00000254442 human ensembl 74_37 +1 known missense c.2991 p.D997E 1.000 NULL pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 106 0 0 80 34 29.8246 ZCCHC2 0 genome.wustl.edu 37 18 60241471 60241471 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 18 60241471 60241471 G A SNP ZCCHC2 ENST00000269499 human ensembl 74_37 +1 known missense c.2157 p.M719I 1.000 NULL pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC2 HGNC ENSG00000141664 159 0 0 100 36 26.4706 SERPINB8 0 genome.wustl.edu 37 18 61654276 61654276 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 18 61654276 61654276 G A SNP SERPINB8 ENST00000353706 human ensembl 74_37 +1 known missense c.889 p.A297T 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB8 HGNC ENSG00000166401 53 0 0 29 19 39.5833 ADNP2 0 genome.wustl.edu 37 18 77893766 77893766 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 18 77893766 77893766 G A SNP ADNP2 ENST00000262198 human ensembl 74_37 +1 known missense c.470 p.C157Y 0.997 smart_Znf_C2H2-like superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 40 0 0 34 10 22.7273 CDKN2D 0 genome.wustl.edu 37 19 10677827 10677827 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 10677827 10677827 G A SNP CDKN2D ENST00000335766 human ensembl 74_37 -1 known silent c.408 p.D136 0.621 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2D HGNC ENSG00000129355 83 0 0 69 23 25 BEST2 0 genome.wustl.edu 37 19 12866954 12866954 + Splice_Site SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 12866954 12866954 G T SNP BEST2 ENST00000042931 human ensembl 74_37 +1 known splice_site c.949-1 e8-1 1.000 - - - no_errors BEST2 HGNC ENSG00000039987 129 0 0 135 16 10.596 HOOK2 0 genome.wustl.edu 37 19 12874211 12874211 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 12874211 12874211 C T SNP HOOK2 ENST00000397668 human ensembl 74_37 -1 known missense c.2045 p.R682Q 0.006 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_UBA-like - no_errors HOOK2 HGNC ENSG00000095066 72 0 0 61 4 6.15385 APC2 0 genome.wustl.edu 37 19 1460308 1460308 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 1460308 1460308 G A SNP APC2 ENST00000233607 human ensembl 74_37 +1 known missense c.1432 p.V478I 0.989 superfamily_ARM-type_fold,smart_Armadillo pfam_APC_basic_dom,pfam_APC_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo - no_errors APC2 HGNC ENSG00000115266 89 0 0 77 7 8.33333 APC2 0 genome.wustl.edu 37 19 1466430 1466430 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 1466430 1466430 G A SNP APC2 ENST00000233607 human ensembl 74_37 +1 known missense c.3130 p.A1044T 0.011 NULL pfam_APC_basic_dom,pfam_APC_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo - no_errors APC2 HGNC ENSG00000115266 14 0 0 9 9 50 OR7A5 0 genome.wustl.edu 37 19 14938705 14938705 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 14938705 14938705 C T SNP OR7A5 ENST00000322301 human ensembl 74_37 -1 known missense c.349 p.V117M 0.005 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 OR7A5 HGNC ENSG00000188269 91 0 0 78 6 7.14286 MBD3 0 genome.wustl.edu 37 19 1578416 1578416 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 1578416 1578416 C A SNP MBD3 ENST00000156825 human ensembl 74_37 -1 known missense c.799 p.A267S 0.000 superfamily_ARM-type_fold pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD3 HGNC ENSG00000071655 23 0 0 15 7 31.8182 TCF3 0 genome.wustl.edu 37 19 1615385 1615385 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 1615385 1615385 C T SNP TCF3 ENST00000262965 human ensembl 74_37 -1 known missense c.1721 p.R574H 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF3 HGNC ENSG00000071564 123 1 0.806452 74 25 25.2525 CALR3 0 genome.wustl.edu 37 19 16593516 16593516 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 16593516 16593516 C T SNP CALR3 ENST00000269881 human ensembl 74_37 -1 known silent c.759 p.A253 0.001 pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,pirsf_Calreticulin,prints_Calret/calnex pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,pirsf_Calreticulin,prints_Calret/calnex - no_errors CALR3 HGNC ENSG00000269058 47 0 0 24 8 25 RPSAP58 0 genome.wustl.edu 37 19 24010328 24010328 + Missense_Mutation SNP T T A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 24010328 24010328 T A SNP RPSAP58 ENST00000354585 human ensembl 74_37 +1 known missense c.365 p.L122H 0.997 pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2,tigrfam_Ribosomal_S2_euk/arc pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2,tigrfam_Ribosomal_S2_euk/arc - no_errors RPSAP58 HGNC ENSG00000205246 40 0 0 32 15 31.9149 TMPRSS9 0 genome.wustl.edu 37 19 2424144 2424144 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 2424144 2424144 G A SNP TMPRSS9 ENST00000332578 human ensembl 74_37 +1 known missense c.2504 p.R835H 0.181 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS9 HGNC ENSG00000178297 8 0 0 4 3 42.8571 ZNF536 0 genome.wustl.edu 37 19 30935847 30935847 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 30935847 30935847 A G SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.1378 p.M460V 0.152 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 44 0 0 30 18 37.5 CHST8 0 genome.wustl.edu 37 19 34263386 34263386 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 34263386 34263386 C T SNP CHST8 ENST00000262622 human ensembl 74_37 +1 known silent c.693 p.S231 0.790 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST8 HGNC ENSG00000124302 68 0 0 51 28 35.443 KIAA0355 0 genome.wustl.edu 37 19 34832706 34832706 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 34832706 34832706 C T SNP KIAA0355 ENST00000299505 human ensembl 74_37 +1 known missense c.1867 p.R623C 0.728 NULL NULL - no_errors KIAA0355 HGNC ENSG00000166398 59 0 0 42 14 25 UBA2 0 genome.wustl.edu 37 19 34957932 34957932 + RNA SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 34957932 34957932 C A SNP UBA2 ENST00000588585 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors UBA2 HGNC ENSG00000126261 44 0 0 25 4 13.7931 CD22 0 genome.wustl.edu 37 19 35831914 35831914 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 35831914 35831914 C T SNP CD22 ENST00000085219 human ensembl 74_37 +1 known silent c.1380 p.G460 0.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CD22 HGNC ENSG00000012124 47 0 0 24 20 45.4545 GIPC3 0 genome.wustl.edu 37 19 3589552 3589552 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 3589552 3589552 C T SNP GIPC3 ENST00000322315 human ensembl 74_37 +1 known missense c.704 p.A235V 0.995 pirsf_UCP038083_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ - no_errors GIPC3 HGNC ENSG00000179855 61 0 0 23 18 43.9024 KRTDAP 0 genome.wustl.edu 37 19 35979569 35979569 + Nonsense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 35979569 35979569 G A SNP KRTDAP ENST00000338897 human ensembl 74_37 -1 known nonsense c.163 p.R55* 0.000 NULL NULL - no_errors KRTDAP HGNC ENSG00000188508 130 0 0 96 46 32.3944 HKR1 0 genome.wustl.edu 37 19 37854373 37854373 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 37854373 37854373 G A SNP HKR1 ENST00000324411 human ensembl 74_37 +1 known missense c.1676 p.G559D 0.973 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 HKR1 HGNC ENSG00000181666 43 0 0 33 5 13.1579 SIPA1L3 0 genome.wustl.edu 37 19 38655327 38655327 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 38655327 38655327 G A SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known missense c.3989 p.R1330Q 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 38 0 0 18 7 28 CATSPERG 0 genome.wustl.edu 37 19 38852388 38852388 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 38852388 38852388 C T SNP CATSPERG ENST00000409235 human ensembl 74_37 +1 known missense c.1981 p.R661W 0.391 NULL NULL - no_errors CATSPERG HGNC ENSG00000099338 17 0 0 12 3 20 SIRT2 0 genome.wustl.edu 37 19 39384074 39384074 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 39384074 39384074 C A SNP SIRT2 ENST00000249396 human ensembl 74_37 -1 known missense c.206 p.R69L 0.955 pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom - no_errors SIRT2 HGNC ENSG00000068903 33 0 0 27 6 18.1818 ZNF780B 0 genome.wustl.edu 37 19 40540359 40540359 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 40540359 40540359 C T SNP ZNF780B ENST00000434248 human ensembl 74_37 -1 known missense c.2407 p.V803I 0.979 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 ZNF780B HGNC ENSG00000128000 57 0 0 46 9 16.3636 AKT2 0 genome.wustl.edu 37 19 40762934 40762934 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 40762934 40762934 C T SNP AKT2 ENST00000392038 human ensembl 74_37 -1 known missense c.74 p.R25Q 0.981 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom - no_errors AKT2 HGNC ENSG00000105221 67 0 0 53 14 20.8955 TMIGD2 0 genome.wustl.edu 37 19 4292666 4292666 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 4292666 4292666 C T SNP TMIGD2 ENST00000301272 human ensembl 74_37 -1 known missense c.779 p.R260K 0.002 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors TMIGD2 HGNC ENSG00000167664 82 0 0 57 22 27.8481 FSD1 0 genome.wustl.edu 37 19 4318365 4318365 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 4318365 4318365 G A SNP FSD1 ENST00000221856 human ensembl 74_37 +1 known silent c.822 p.A274 0.979 superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors FSD1 HGNC ENSG00000105255 36 0 0 20 15 42.8571 PSG2 0 genome.wustl.edu 37 19 43579693 43579693 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 43579693 43579693 C T SNP PSG2 ENST00000406487 human ensembl 74_37 -1 known silent c.522 p.P174 0.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG2 HGNC ENSG00000242221 260 0 0 173 85 32.9457 IRGQ 0 genome.wustl.edu 37 19 44097037 44097037 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 44097037 44097037 G A SNP IRGQ ENST00000422989 human ensembl 74_37 -1 known missense c.1013 p.P338L 0.970 NULL superfamily_P-loop_NTPase - no_errors IRGQ HGNC ENSG00000167378 188 0 0 91 54 37.2414 SEMA6B 0 genome.wustl.edu 37 19 4557220 4557220 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 4557220 4557220 G A SNP SEMA6B ENST00000301293 human ensembl 74_37 -1 known silent c.261 p.R87 0.854 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom - no_errors SEMA6B HGNC ENSG00000167680 42 0 0 16 6 27.2727 RSPH6A 0 genome.wustl.edu 37 19 46313976 46313976 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 46313976 46313976 G A SNP RSPH6A ENST00000221538 human ensembl 74_37 -1 known missense c.773 p.T258M 0.937 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH6A HGNC ENSG00000104941 51 0 0 30 28 48.2759 PNMAL2 0 genome.wustl.edu 37 19 46997563 46997563 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 46997563 46997563 C T SNP PNMAL2 ENST00000599531 human ensembl 74_37 -1 known missense c.1160 p.R387H 0.313 NULL NULL - no_errors PNMAL2 HGNC ENSG00000204851 24 0 0 18 5 21.7391 LIG1 0 genome.wustl.edu 37 19 48646810 48646810 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 48646810 48646810 C T SNP LIG1 ENST00000263274 human ensembl 74_37 -1 known missense c.904 p.V302M 1.000 pfam_DNA_ligase_ATP-dep_N,superfamily_DNA_ligase_ATP-dep_N pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_ATP-dep_C,superfamily_DNA_ligase_ATP-dep_N,superfamily_NA-bd_OB-fold,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG1 HGNC ENSG00000105486 122 0 0 76 34 30.9091 GRIN2D 0 genome.wustl.edu 37 19 48919394 48919394 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 48919394 48919394 T C SNP GRIN2D ENST00000263269 human ensembl 74_37 +1 known missense c.1717 p.S573P 1.000 pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2D HGNC ENSG00000105464 40 0 0 45 3 6.25 TULP2 0 genome.wustl.edu 37 19 49391323 49391323 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 49391323 49391323 G A SNP TULP2 ENST00000221399 human ensembl 74_37 -1 known missense c.832 p.R278W 1.000 superfamily_Tubby_C-like pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N - no_errors TULP2 HGNC ENSG00000104804 35 0 0 17 12 41.3793 PPFIA3 0 genome.wustl.edu 37 19 49632105 49632105 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 49632105 49632105 C T SNP PPFIA3 ENST00000334186 human ensembl 74_37 +1 known silent c.343 p.L115 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 86 0 0 56 13 18.8406 TEAD2 0 genome.wustl.edu 37 19 49863251 49863251 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 49863251 49863251 C T SNP TEAD2 ENST00000311227 human ensembl 74_37 -1 known missense c.82 p.G28S 0.867 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD2 HGNC ENSG00000074219 108 0 0 46 27 36.9863 SLC17A7 0 genome.wustl.edu 37 19 49934335 49934335 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 49934335 49934335 G A SNP SLC17A7 ENST00000221485 human ensembl 74_37 -1 known silent c.1326 p.N442 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A7 HGNC ENSG00000104888 40 0 0 30 17 36.1702 TSKS 0 genome.wustl.edu 37 19 50250722 50250722 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 50250722 50250722 C T SNP TSKS ENST00000246801 human ensembl 74_37 -1 known missense c.587 p.C196Y 1.000 NULL NULL - no_errors TSKS HGNC ENSG00000126467 93 0 0 76 4 5 EMC10 0 genome.wustl.edu 37 19 50983973 50983973 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 50983973 50983973 C T SNP EMC10 ENST00000334976 human ensembl 74_37 +1 known silent c.538 p.L180 1.000 NULL NULL - no_errors EMC10 HGNC ENSG00000161671 12 0 0 7 3 30 CLEC11A 0 genome.wustl.edu 37 19 51228606 51228606 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 51228606 51228606 C T SNP CLEC11A ENST00000250340 human ensembl 74_37 +1 known missense c.854 p.P285L 0.996 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC11A HGNC ENSG00000105472 17 0 0 13 4 23.5294 SIGLEC12 0 genome.wustl.edu 37 19 51994931 51994931 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 51994931 51994931 G A SNP SIGLEC12 ENST00000291707 human ensembl 74_37 -1 known silent c.1752 p.I584 0.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC12 HGNC ENSG00000254521 107 0 0 88 34 27.8689 SIGLEC12 0 genome.wustl.edu 37 19 52002839 52002839 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 52002839 52002839 C T SNP SIGLEC12 ENST00000291707 human ensembl 74_37 -1 known missense c.940 p.V314M 0.000 pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC12 HGNC ENSG00000254521 48 0 0 38 14 26.9231 ZNF808 0 genome.wustl.edu 37 19 53058467 53058467 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 53058467 53058467 C T SNP ZNF808 ENST00000359798 human ensembl 74_37 +1 known silent c.2298 p.N766 0.001 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 ZNF808 HGNC ENSG00000198482 204 0 0 133 72 35.122 ZNF320 0 genome.wustl.edu 37 19 53384108 53384108 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 53384108 53384108 C T SNP ZNF320 ENST00000391781 human ensembl 74_37 -1 known missense c.1271 p.R424H 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF320 HGNC ENSG00000182986 70 0 0 51 15 22.7273 ZNF816 0 genome.wustl.edu 37 19 53454224 53454224 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 53454224 53454224 C A SNP ZNF816 ENST00000357666 human ensembl 74_37 -1 known missense c.804 p.Q268H 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF816 HGNC ENSG00000180257 134 0 0 67 47 41.2281 TNNT1 0 genome.wustl.edu 37 19 55658533 55658533 + RNA SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 55658533 55658533 C T SNP TNNT1 ENST00000592920 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors TNNT1 HGNC ENSG00000105048 26 0 0 19 13 40.625 PPP6R1 0 genome.wustl.edu 37 19 55758396 55758396 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 55758396 55758396 C T SNP PPP6R1 ENST00000412770 human ensembl 74_37 -1 known missense c.76 p.E26K 0.997 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R1 HGNC ENSG00000105063 117 0 0 80 30 27.2727 FIZ1 0 genome.wustl.edu 37 19 56104137 56104137 + Silent SNP C C G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 56104137 56104137 C G SNP FIZ1 ENST00000221665 human ensembl 74_37 -1 known silent c.1170 p.A390 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FIZ1 HGNC ENSG00000179943 20 0 0 6 4 40 EPN1 0 genome.wustl.edu 37 19 56200241 56200241 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 56200241 56200241 T C SNP EPN1 ENST00000411543 human ensembl 74_37 +1 known missense c.817 p.S273P 0.984 NULL pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN1 HGNC ENSG00000063245 8 0 0 1 2 66.6667 NLRP11 0 genome.wustl.edu 37 19 56303726 56303726 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 56303726 56303726 G A SNP NLRP11 ENST00000443188 human ensembl 74_37 -1 known silent c.2454 p.Y818 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP11 HGNC ENSG00000179873 119 0 0 83 41 33.0645 ZNF444 0 genome.wustl.edu 37 19 56671208 56671208 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 56671208 56671208 G A SNP ZNF444 ENST00000337080 human ensembl 74_37 +1 known missense c.622 p.A208T 0.044 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF444 HGNC ENSG00000167685 11 0 0 7 3 30 PRR22 0 genome.wustl.edu 37 19 5783938 5783938 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 5783938 5783938 A G SNP PRR22 ENST00000419421 human ensembl 74_37 -1 known missense c.320 p.V107A 0.025 NULL NULL - no_errors PRR22 HGNC ENSG00000212123 8 0 0 3 3 50 ZNF606 0 genome.wustl.edu 37 19 58511153 58511153 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 58511153 58511153 G T SNP ZNF606 ENST00000547121 human ensembl 74_37 -1 putative missense c.200 p.P67H 0.012 NULL NULL - no_errors ZNF606 HGNC ENSG00000166704 58 0 0 50 6 10.7143 ZSCAN18 0 genome.wustl.edu 37 19 58596096 58596096 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 58596096 58596096 C T SNP ZSCAN18 ENST00000600404 human ensembl 74_37 -1 known missense c.1657 p.V553M 0.000 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN18 HGNC ENSG00000121413 15 0 0 7 3 30 ZNF497 0 genome.wustl.edu 37 19 58867569 58867569 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 58867569 58867569 G T SNP ZNF497 ENST00000311044 human ensembl 74_37 -1 known missense c.1433 p.P478H 0.942 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF497 HGNC ENSG00000174586 23 0 0 23 8 25.8065 MZF1 0 genome.wustl.edu 37 19 59074762 59074762 + Silent SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 59074762 59074762 T C SNP MZF1 ENST00000215057 human ensembl 74_37 -1 known silent c.882 p.S294 0.279 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors MZF1 HGNC ENSG00000099326 11 0 0 7 2 22.2222 TUBB4A 0 genome.wustl.edu 37 19 6496189 6496189 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 6496189 6496189 C T SNP TUBB4A ENST00000598006 human ensembl 74_37 -1 putative missense c.278 p.R93Q 0.035 NULL superfamily_Tubulin_FtsZ_GTPase - no_errors TUBB4A HGNC ENSG00000104833 116 0 0 73 17 18.8889 INSR 0 genome.wustl.edu 37 19 7152853 7152853 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 7152853 7152853 C T SNP INSR ENST00000302850 human ensembl 74_37 -1 known silent c.2115 p.S705 0.000 pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSR HGNC ENSG00000171105 99 0 0 113 7 5.83333 SNAPC2 0 genome.wustl.edu 37 19 7987008 7987008 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 7987008 7987008 T C SNP SNAPC2 ENST00000221573 human ensembl 74_37 +1 known missense c.461 p.L154P 0.003 pfam_SnAPC_su2-like pfam_SnAPC_su2-like - no_errors SNAPC2 HGNC ENSG00000104976 133 0 0 87 39 30.9524 CERS4 0 genome.wustl.edu 37 19 8326868 8326868 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 8326868 8326868 G A SNP CERS4 ENST00000251363 human ensembl 74_37 +1 known missense c.1060 p.A354T 0.003 pirsf_Longevity_assurance_LAG1_LAC1 pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS4 HGNC ENSG00000090661 48 0 0 26 11 29.7297 MUC16 0 genome.wustl.edu 37 19 9067365 9067365 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 9067365 9067365 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.20081 p.A6694V 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 193 0 0 139 53 27.6042 ZNF560 0 genome.wustl.edu 37 19 9578460 9578460 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 9578460 9578460 G A SNP ZNF560 ENST00000301480 human ensembl 74_37 -1 known missense c.1163 p.P388L 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF560 HGNC ENSG00000198028 100 0 0 76 28 26.9231 SLC9A4 0 genome.wustl.edu 37 2 103149045 103149045 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 103149045 103149045 G T SNP SLC9A4 ENST00000295269 human ensembl 74_37 +1 known missense c.2295 p.E765D 0.191 NULL pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC ENSG00000180251 31 0 0 18 10 35.7143 ZC3H6 0 genome.wustl.edu 37 2 113082135 113082135 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 113082135 113082135 C A SNP ZC3H6 ENST00000343936 human ensembl 74_37 +1 known missense c.1747 p.Q583K 0.987 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H6 HGNC ENSG00000188177 24 0 0 15 6 28.5714 DPP10 0 genome.wustl.edu 37 2 116497367 116497367 + Silent SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 116497367 116497367 A G SNP DPP10 ENST00000393147 human ensembl 74_37 +1 known silent c.762 p.R254 0.992 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 116 0 0 99 37 27.2059 MAP3K2 0 genome.wustl.edu 37 2 128083333 128083333 + Silent SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 128083333 128083333 A G SNP MAP3K2 ENST00000344908 human ensembl 74_37 -1 known silent c.648 p.S216 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K2 HGNC ENSG00000169967 114 0 0 91 7 7.14286 AMMECR1L 0 genome.wustl.edu 37 2 128628889 128628889 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 128628889 128628889 C T SNP AMMECR1L ENST00000272647 human ensembl 74_37 -1 known missense c.452 p.R151H 1.000 pfam_AMMECR1_domain,superfamily_AMMECR1_domain,pfscan_AMMECR1_domain,tigrfam_AMMECR1 pfam_AMMECR1_domain,superfamily_AMMECR1_domain,pfscan_AMMECR1_domain,tigrfam_AMMECR1 - no_errors AMMECR1L HGNC ENSG00000144233 52 0 0 33 13 28.2609 MYCN 0 genome.wustl.edu 37 2 16082936 16082936 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 16082936 16082936 G T SNP MYCN ENST00000281043 human ensembl 74_37 +1 known missense c.750 p.K250N 0.947 pfam_Tscrpt_reg_Myc_N pfam_Tscrpt_reg_Myc_N,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc - no_errors MYCN HGNC ENSG00000134323 18 0 0 13 3 18.75 MLK7-AS1 0 genome.wustl.edu 37 2 174074407 174074407 + RNA SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 174074407 174074407 A G SNP MLK7-AS1 ENST00000423106 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MLK7-AS1 HGNC ENSG00000238133 10 0 0 8 16 66.6667 KIAA1715 0 genome.wustl.edu 37 2 176857066 176857066 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 176857066 176857066 G A SNP KIAA1715 ENST00000544803 human ensembl 74_37 -1 known silent c.150 p.S50 0.272 NULL pfam_DUF2296 - no_errors KIAA1715 HGNC ENSG00000144320 57 0 0 17 10 37.037 HOXD13 0 genome.wustl.edu 37 2 176958155 176958155 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 176958155 176958155 G A SNP HOXD13 ENST00000392539 human ensembl 74_37 +1 putative silent c.537 p.P179 0.976 NULL pfam_Homeobox_dom,pfam_HoxA13_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOXD13 HGNC ENSG00000128714 47 0 0 28 24 46.1538 RAD51AP2 0 genome.wustl.edu 37 2 17698848 17698848 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 17698848 17698848 C T SNP RAD51AP2 ENST00000399080 human ensembl 74_37 -1 known missense c.835 p.A279T 0.001 NULL NULL - no_errors RAD51AP2 HGNC ENSG00000214842 69 0 0 28 13 31.7073 HOXD4 0 genome.wustl.edu 37 2 177016381 177016381 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 177016381 177016381 T C SNP HOXD4 ENST00000306324 human ensembl 74_37 +1 known missense c.20 p.M7T 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXD4 HGNC ENSG00000170166 85 0 0 47 14 22.9508 TTN 0 genome.wustl.edu 37 2 179416766 179416766 + Silent SNP A A T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 179416766 179416766 A T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.83157 p.P27719 0.998 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 65 0 0 51 3 5.55556 TTN 0 genome.wustl.edu 37 2 179439492 179439492 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 179439492 179439492 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.63663 p.T21221 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 84 0 0 50 23 31.5068 TTN 0 genome.wustl.edu 37 2 179481660 179481660 + Missense_Mutation SNP T T G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 179481660 179481660 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.40252 p.S13418R 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 143 0 0 107 43 28.6667 ASNSD1 0 genome.wustl.edu 37 2 190531174 190531174 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 190531174 190531174 T C SNP ASNSD1 ENST00000260952 human ensembl 74_37 +1 known missense c.316 p.S106P 0.226 NULL pfam_Asn_synthase - no_errors ASNSD1 HGNC ENSG00000138381 89 0 0 72 13 15.2941 MYT1L 0 genome.wustl.edu 37 2 1906931 1906931 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 1906931 1906931 G A SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known silent c.1953 p.Y651 1.000 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 84 0 0 50 21 29.5775 DNAH7 0 genome.wustl.edu 37 2 196759791 196759791 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 196759791 196759791 C T SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.4805 p.R1602H 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 57 0 0 28 8 22.2222 MYT1L 0 genome.wustl.edu 37 2 1983518 1983518 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 1983518 1983518 C T SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known missense c.32 p.R11H 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 50 0 0 31 7 18.4211 ALS2CR11 0 genome.wustl.edu 37 2 202436664 202436664 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 202436664 202436664 G A SNP ALS2CR11 ENST00000286195 human ensembl 74_37 -1 known missense c.833 p.T278I 0.872 NULL superfamily_C2_dom - no_errors ALS2CR11 HGNC ENSG00000155754 79 0 0 26 15 36.5854 ACADL 0 genome.wustl.edu 37 2 211069401 211069401 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 211069401 211069401 G A SNP ACADL ENST00000233710 human ensembl 74_37 -1 known silent c.774 p.T258 0.984 superfamily_AcylCoA_DH/oxidase_NM_dom pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADL HGNC ENSG00000115361 77 0 0 53 4 7.01754 ERBB4 0 genome.wustl.edu 37 2 212615400 212615400 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 212615400 212615400 G A SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.586 p.R196C 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 82 0 0 40 18 31.0345 OBSL1 0 genome.wustl.edu 37 2 220430066 220430066 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 220430066 220430066 G A SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.2305 p.R769C 0.553 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 82 0 0 57 25 30.4878 OBSL1 0 genome.wustl.edu 37 2 220434995 220434995 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 220434995 220434995 G A SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known silent c.960 p.A320 0.012 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 15 0 0 8 6 42.8571 CHRNG 0 genome.wustl.edu 37 2 233409277 233409277 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 233409277 233409277 G A SNP CHRNG ENST00000389494 human ensembl 74_37 +1 known silent c.1236 p.A412 0.263 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNG HGNC ENSG00000196811 39 0 0 18 11 37.931 UGT1A8 0 genome.wustl.edu 37 2 234669110 234669110 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 234669110 234669110 C T SNP UGT1A8 ENST00000305208 human ensembl 74_37 +1 known silent c.177 p.V59 0.008 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A8 HGNC ENSG00000242366 89 0 0 67 36 34.9515 GBX2 0 genome.wustl.edu 37 2 237075034 237075034 + Nonsense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 237075034 237075034 G A SNP GBX2 ENST00000551105 human ensembl 74_37 -1 novel nonsense c.607 p.R203* 0.917 NULL NULL - no_errors GBX2 HGNC ENSG00000168505 123 0 0 73 43 37.069 COL6A3 0 genome.wustl.edu 37 2 238274488 238274488 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 238274488 238274488 C T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known silent c.5691 p.P1897 0.003 smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 77 0 0 63 18 22.2222 MFSD2B 0 genome.wustl.edu 37 2 24247037 24247037 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 24247037 24247037 C T SNP MFSD2B ENST00000338315 human ensembl 74_37 +1 known silent c.1386 p.G462 0.015 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors MFSD2B HGNC ENSG00000205639 30 0 0 20 8 28.5714 SLC5A6 0 genome.wustl.edu 37 2 27423328 27423328 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 27423328 27423328 G A SNP SLC5A6 ENST00000310574 human ensembl 74_37 -1 known silent c.1884 p.C628 0.948 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A6 HGNC ENSG00000138074 42 0 0 16 13 44.8276 ALK 0 genome.wustl.edu 37 2 29462672 29462672 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 29462672 29462672 G A SNP ALK ENST00000389048 human ensembl 74_37 -1 known silent c.2229 p.G743 0.718 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 59 0 0 44 18 29.0323 SPTBN1 0 genome.wustl.edu 37 2 54858256 54858256 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 54858256 54858256 C T SNP SPTBN1 ENST00000356805 human ensembl 74_37 +1 known silent c.3072 p.S1024 0.009 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 85 0 0 46 29 38.6667 USP34 0 genome.wustl.edu 37 2 61575984 61575984 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 61575984 61575984 G A SNP USP34 ENST00000398571 human ensembl 74_37 -1 known silent c.1581 p.S527 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 66 0 0 40 6 13.0435 ADD2 0 genome.wustl.edu 37 2 70905913 70905913 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 70905913 70905913 T C SNP ADD2 ENST00000264436 human ensembl 74_37 -1 known missense c.1306 p.T436A 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 159 1 0.625 163 9 5.23256 PRADC1 0 genome.wustl.edu 37 2 73456645 73456645 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 73456645 73456645 G A SNP PRADC1 ENST00000258083 human ensembl 74_37 -1 known silent c.222 p.C74 0.993 pfam_Protease-assoc_domain pfam_Protease-assoc_domain - no_errors PRADC1 HGNC ENSG00000135617 128 0 0 125 7 5.30303 FBXO41 0 genome.wustl.edu 37 2 73492583 73492583 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 73492583 73492583 C T SNP FBXO41 ENST00000295133 human ensembl 74_37 -1 known missense c.1574 p.R525H 1.000 NULL superfamily_F-box_dom - no_errors FBXO41 HGNC ENSG00000163013 15 0 0 9 5 35.7143 ALMS1 0 genome.wustl.edu 37 2 73679208 73679208 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 73679208 73679208 C A SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.5551 p.P1851T 0.000 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 76 0 0 59 13 18.0556 DCTN1 0 genome.wustl.edu 37 2 74597749 74597749 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 74597749 74597749 C T SNP DCTN1 ENST00000361874 human ensembl 74_37 -1 known silent c.1047 p.K349 0.998 NULL pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,superfamily_P-loop_NTPase,pfscan_CAP-Gly_domain - no_errors DCTN1 HGNC ENSG00000204843 114 0 0 76 29 27.619 LRRTM4 0 genome.wustl.edu 37 2 77746782 77746782 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 77746782 77746782 G A SNP LRRTM4 ENST00000409911 human ensembl 74_37 -1 known silent c.216 p.N72 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 94 0 0 58 28 32.5581 TEKT4 0 genome.wustl.edu 37 2 95537568 95537568 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 95537568 95537568 C T SNP TEKT4 ENST00000295201 human ensembl 74_37 +1 known missense c.244 p.R82C 1.000 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT4 HGNC ENSG00000163060 21 0 0 9 5 35.7143 ZAP70 0 genome.wustl.edu 37 2 98354293 98354293 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 98354293 98354293 G A SNP ZAP70 ENST00000264972 human ensembl 74_37 +1 known missense c.1556 p.R519H 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ZAP70 HGNC ENSG00000115085 204 0 0 156 46 22.7723 ESF1 0 genome.wustl.edu 37 20 13763472 13763472 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 20 13763472 13763472 G A SNP ESF1 ENST00000202816 human ensembl 74_37 -1 known silent c.315 p.I105 0.023 NULL pfam_NUC153 - no_errors ESF1 HGNC ENSG00000089048 16 0 0 4 3 42.8571 NAA20 0 genome.wustl.edu 37 20 20007472 20007472 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 20 20007472 20007472 G A SNP NAA20 ENST00000334982 human ensembl 74_37 +1 known missense c.214 p.G72R 1.000 pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA20 HGNC ENSG00000173418 159 0 0 107 33 23.5714 GZF1 0 genome.wustl.edu 37 20 23345920 23345920 + Silent SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 20 23345920 23345920 A G SNP GZF1 ENST00000338121 human ensembl 74_37 +1 known silent c.900 p.E300 0.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors GZF1 HGNC ENSG00000125812 45 0 0 25 9 26.4706 TMC2 0 genome.wustl.edu 37 20 2575544 2575544 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 20 2575544 2575544 G A SNP TMC2 ENST00000358864 human ensembl 74_37 +1 known missense c.1007 p.R336Q 1.000 NULL pfam_TMC - no_errors TMC2 HGNC ENSG00000149488 90 0 0 86 6 6.52174 PTPRA 0 genome.wustl.edu 37 20 3001963 3001963 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 20 3001963 3001963 C T SNP PTPRA ENST00000425918 human ensembl 74_37 +1 known silent c.1083 p.C361 1.000 pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRA HGNC ENSG00000132670 93 0 0 63 16 20.2532 CBFA2T2 0 genome.wustl.edu 37 20 32232360 32232360 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 20 32232360 32232360 G A SNP CBFA2T2 ENST00000346541 human ensembl 74_37 +1 known missense c.1723 p.V575M 0.244 prints_MTGR1 pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTGR1 - no_errors CBFA2T2 HGNC ENSG00000078699 84 0 0 90 5 5.26316 EIF6 0 genome.wustl.edu 37 20 33868473 33868473 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 20 33868473 33868473 T C SNP EIF6 ENST00000374436 human ensembl 74_37 -1 known missense c.353 p.H118R 1.000 pfam_eIF6,smart_eIF6,pirsf_eIF6,tigrfam_eIF6 pfam_eIF6,smart_eIF6,pirsf_eIF6,tigrfam_eIF6 - no_errors EIF6 HGNC ENSG00000242372 23 0 0 26 2 7.14286 CEP250 0 genome.wustl.edu 37 20 34067839 34067839 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 20 34067839 34067839 C T SNP CEP250 ENST00000397527 human ensembl 74_37 +1 known missense c.2455 p.R819W 0.829 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 92 0 0 60 25 29.4118 ATRN 0 genome.wustl.edu 37 20 3557644 3557644 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 20 3557644 3557644 G A SNP ATRN ENST00000262919 human ensembl 74_37 +1 known missense c.2353 p.E785K 1.000 smart_Plexin-like_fold pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRN HGNC ENSG00000088812 69 0 0 46 21 31.3433 ATRN 0 genome.wustl.edu 37 20 3562942 3562942 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 20 3562942 3562942 G A SNP ATRN ENST00000262919 human ensembl 74_37 +1 known missense c.2705 p.R902Q 0.983 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRN HGNC ENSG00000088812 93 0 0 62 31 33.3333 SRC 0 genome.wustl.edu 37 20 36024669 36024669 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 20 36024669 36024669 C A SNP SRC ENST00000360723 human ensembl 74_37 +1 known missense c.676 p.R226S 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors SRC HGNC ENSG00000197122 93 0 0 62 29 31.8681 SIGLEC1 0 genome.wustl.edu 37 20 3675116 3675116 + Missense_Mutation SNP A A T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 20 3675116 3675116 A T SNP SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known missense c.3008 p.L1003H 0.992 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,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 9 0 0 5 3 37.5 ACTR5 0 genome.wustl.edu 37 20 37384640 37384640 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 20 37384640 37384640 G A SNP ACTR5 ENST00000243903 human ensembl 74_37 +1 known silent c.1134 p.A378 0.033 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR5 HGNC ENSG00000101442 26 0 0 23 10 30.303 CHD6 0 genome.wustl.edu 37 20 40112160 40112160 + Splice_Site SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 20 40112160 40112160 C A SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known splice_site c.2258-1 e15-1 1.000 - - - no_errors CHD6 HGNC ENSG00000124177 14 0 0 9 5 35.7143 OSER1 0 genome.wustl.edu 37 20 42825845 42825845 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 20 42825845 42825845 G A SNP OSER1 ENST00000255174 human ensembl 74_37 -1 known silent c.726 p.H242 0.036 NULL pfam_DUF776 - no_errors OSER1 HGNC ENSG00000132823 82 0 0 45 24 34.7826 SEMG2 0 genome.wustl.edu 37 20 43850895 43850895 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 20 43850895 43850895 C T SNP SEMG2 ENST00000372769 human ensembl 74_37 +1 known missense c.622 p.R208C 0.000 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG2 HGNC ENSG00000124157 83 0 0 43 18 29.5082 MATN4 0 genome.wustl.edu 37 20 43926884 43926884 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 20 43926884 43926884 C T SNP MATN4 ENST00000372754 human ensembl 74_37 -1 known missense c.1475 p.R492H 0.997 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_VWF_A - no_errors MATN4 HGNC ENSG00000124159 84 0 0 65 5 7.14286 PREX1 0 genome.wustl.edu 37 20 47253137 47253137 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 20 47253137 47253137 G A SNP PREX1 ENST00000371941 human ensembl 74_37 -1 known missense c.4031 p.A1344V 0.988 NULL pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC ENSG00000124126 25 0 0 15 7 31.8182 STAU1 0 genome.wustl.edu 37 20 47741116 47741116 + Silent SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 20 47741116 47741116 C A SNP STAU1 ENST00000371856 human ensembl 74_37 -1 known silent c.618 p.R206 1.000 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors STAU1 HGNC ENSG00000124214 76 0 0 43 22 33.8462 ZNF217 0 genome.wustl.edu 37 20 52193262 52193262 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 20 52193262 52193262 C T SNP ZNF217 ENST00000302342 human ensembl 74_37 -1 known missense c.2041 p.D681N 0.133 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF217 HGNC ENSG00000171940 200 0 0 138 48 25.8065 TFAP2C 0 genome.wustl.edu 37 20 55206438 55206438 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 20 55206438 55206438 T C SNP TFAP2C ENST00000201031 human ensembl 74_37 +1 known missense c.226 p.Y76H 1.000 NULL pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_gamma - no_errors TFAP2C HGNC ENSG00000087510 28 0 0 22 3 12 LAMA5 0 genome.wustl.edu 37 20 60913608 60913608 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 20 60913608 60913608 C T SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.1534 p.V512M 0.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,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,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 16 0 0 12 6 33.3333 TPD52L2 0 genome.wustl.edu 37 20 62500698 62500698 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 20 62500698 62500698 G A SNP TPD52L2 ENST00000217121 human ensembl 74_37 +1 known silent c.69 p.T23 0.002 NULL pfam_TPD52 - no_errors TPD52L2 HGNC ENSG00000101150 112 0 0 78 29 27.1028 MYT1 0 genome.wustl.edu 37 20 62848507 62848507 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 20 62848507 62848507 G A SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known silent c.1719 p.L573 1.000 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 92 0 0 57 33 36.6667 PLCB1 0 genome.wustl.edu 37 20 8639224 8639224 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 20 8639224 8639224 G T SNP PLCB1 ENST00000338037 human ensembl 74_37 +1 known missense c.735 p.M245I 1.000 pirsf_PLC-beta,pfam_PLipase_C_EF-hand-like pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 103 0 0 50 18 26.4706 BAGE2 0 genome.wustl.edu 37 21 11039011 11039011 + RNA SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 21 11039011 11039011 T C SNP BAGE2 ENST00000470054 human ensembl 74_37 -1 known rna NULL NULL 0.737 - - - no_errors BAGE2 HGNC ENSG00000187172 498 1 0.200401 397 25 5.92417 BAGE2 0 genome.wustl.edu 37 21 11049460 11049460 + RNA SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 21 11049460 11049460 G A SNP BAGE2 ENST00000470054 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors BAGE2 HGNC ENSG00000187172 148 0 0 132 7 5.03597 SAMSN1 0 genome.wustl.edu 37 21 15882784 15882784 + Splice_Site SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 21 15882784 15882784 T C SNP SAMSN1 ENST00000400566 human ensembl 74_37 -1 known splice_site c.410-2 e5-2 1.000 - - - no_errors SAMSN1 HGNC ENSG00000155307 79 0 0 59 21 26.25 GABPA 0 genome.wustl.edu 37 21 27137089 27137089 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 21 27137089 27137089 G A SNP GABPA ENST00000354828 human ensembl 74_37 +1 known missense c.1127 p.R376H 1.000 pfam_Ets_dom,smart_Ets_dom,pirsf_TF_GA-bd_asu,pfscan_Ets_dom,prints_Ets_dom pfam_GABP_asu_N,pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pirsf_TF_GA-bd_asu,pfscan_Ets_dom,prints_Ets_dom - no_errors GABPA HGNC ENSG00000154727 63 0 0 29 15 34.0909 LTN1 0 genome.wustl.edu 37 21 30325581 30325581 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 21 30325581 30325581 A G SNP LTN1 ENST00000389194 human ensembl 74_37 -1 known missense c.3335 p.V1112A 0.190 NULL pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 69 0 0 44 17 27.8689 BRWD1 0 genome.wustl.edu 37 21 40587277 40587277 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 21 40587277 40587277 G A SNP BRWD1 ENST00000333229 human ensembl 74_37 -1 known missense c.3671 p.A1224V 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 59 0 0 29 3 9.375 CBS 0 genome.wustl.edu 37 21 44488617 44488617 + Splice_Site SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 21 44488617 44488617 A G SNP CBS ENST00000398168 human ensembl 74_37 -1 known splice_site c.316+2 e2+2 1.000 - - - no_errors CBS HGNC ENSG00000160200 80 0 0 34 17 33.3333 ICOSLG 0 genome.wustl.edu 37 21 45657063 45657063 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 21 45657063 45657063 G A SNP ICOSLG ENST00000344330 human ensembl 74_37 -1 known silent c.93 p.S31 0.044 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors ICOSLG HGNC ENSG00000160223 69 0 0 41 20 32.7869 DIP2A 0 genome.wustl.edu 37 21 47987520 47987520 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 21 47987520 47987520 C T SNP DIP2A ENST00000318711 human ensembl 74_37 +1 known silent c.4704 p.V1568 0.894 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 91 0 0 69 21 23.3333 TPTEP1 0 genome.wustl.edu 37 22 17178529 17178529 + RNA SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 22 17178529 17178529 C T SNP TPTEP1 ENST00000558085 human ensembl 74_37 +1 known rna NULL NULL 0.093 - - - no_errors TPTEP1 HGNC ENSG00000100181 67 0 0 54 13 19.403 ENSG00000161103 0 genome.wustl.edu 37 22 18846040 18846040 + RNA SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 22 18846040 18846040 T C SNP ENSG00000161103 ENST00000412938 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AC008132.13 Clone_based_vega_gene ENSG00000161103 70 0 0 46 8 14.8148 SCARF2 0 genome.wustl.edu 37 22 20783851 20783851 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 22 20783851 20783851 C T SNP SCARF2 ENST00000405555 human ensembl 74_37 -1 known missense c.1396 p.A466T 1.000 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF2 HGNC ENSG00000244486 47 0 0 26 11 29.7297 PPIL2 0 genome.wustl.edu 37 22 22035655 22035655 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 22 22035655 22035655 G A SNP PPIL2 ENST00000412327 human ensembl 74_37 +1 known silent c.363 p.T121 0.789 pfam_Rtf2_RING-finger pfam_Cyclophilin-like_PPIase_dom,pfam_Rtf2_RING-finger,superfamily_Cyclophilin-like_PPIase_dom,smart_Ubox_domain,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL2 HGNC ENSG00000100023 83 0 0 50 24 32.4324 GNAZ 0 genome.wustl.edu 37 22 23437850 23437850 + RNA SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 22 23437850 23437850 G A SNP GNAZ ENST00000492538 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GNAZ HGNC ENSG00000128266 15 0 0 15 3 16.6667 CABIN1 0 genome.wustl.edu 37 22 24563190 24563190 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 22 24563190 24563190 A G SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known missense c.5591 p.Y1864C 1.000 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 35 0 0 24 6 20 SEZ6L 0 genome.wustl.edu 37 22 26743798 26743798 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 22 26743798 26743798 G A SNP SEZ6L ENST00000248933 human ensembl 74_37 +1 known missense c.2326 p.G776S 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 SEZ6L HGNC ENSG00000100095 103 0 0 63 28 30.7692 KREMEN1 0 genome.wustl.edu 37 22 29534746 29534746 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 22 29534746 29534746 A G SNP KREMEN1 ENST00000327813 human ensembl 74_37 +1 known missense c.1099 p.S367G 1.000 pirsf_Kremen pirsf_Kremen,pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB_dom,superfamily_Kringle-like,superfamily_CUB_dom,superfamily_Scorpion_toxin-like,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB_dom,pfscan_CUB_dom,pfscan_Kringle,pfscan_WSC_carb-bd - no_errors KREMEN1 HGNC ENSG00000183762 106 0 0 86 7 7.52688 THOC5 0 genome.wustl.edu 37 22 29940500 29940500 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 22 29940500 29940500 C A SNP THOC5 ENST00000397871 human ensembl 74_37 -1 known missense c.189 p.Q63H 0.997 NULL pfam_THO_Thoc5 - no_errors THOC5 HGNC ENSG00000100296 134 0 0 82 49 37.4046 C22orf42 0 genome.wustl.edu 37 22 32546324 32546324 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 22 32546324 32546324 G A SNP C22orf42 ENST00000382097 human ensembl 74_37 -1 known silent c.636 p.D212 0.005 NULL NULL - no_errors C22orf42 HGNC ENSG00000205856 144 0 0 95 39 29.1045 MYH9 0 genome.wustl.edu 37 22 36684413 36684413 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 22 36684413 36684413 G A SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.4817 p.S1606L 0.999 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 81 0 0 61 25 29.0698 MYH9 0 genome.wustl.edu 37 22 36693034 36693034 + Nonsense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 22 36693034 36693034 G A SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known nonsense c.3127 p.R1043* 1.000 superfamily_Prefoldin pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 44 0 0 30 20 40 CSF2RB 0 genome.wustl.edu 37 22 37332596 37332596 + Silent SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 22 37332596 37332596 G T SNP CSF2RB ENST00000262825 human ensembl 74_37 +1 known silent c.1488 p.G496 0.000 pirsf_IL3_rcpt_beta pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC ENSG00000100368 55 0 0 32 14 30.4348 IL2RB 0 genome.wustl.edu 37 22 37524250 37524250 + Silent SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 22 37524250 37524250 G T SNP IL2RB ENST00000216223 human ensembl 74_37 -1 known silent c.1542 p.S514 0.000 NULL superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL2RB HGNC ENSG00000100385 59 0 0 43 12 21.8182 NPTXR 0 genome.wustl.edu 37 22 39222674 39222674 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 22 39222674 39222674 C T SNP NPTXR ENST00000333039 human ensembl 74_37 -1 known missense c.929 p.R310Q 1.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTXR HGNC ENSG00000221890 56 0 0 37 21 36.2069 PDGFB 0 genome.wustl.edu 37 22 39621798 39621798 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 22 39621798 39621798 G T SNP PDGFB ENST00000331163 human ensembl 74_37 -1 known missense c.656 p.P219H 1.000 NULL pfam_PDGF/VEGF_dom,pfam_PDGF_N,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFB HGNC ENSG00000100311 33 0 0 12 12 50 PDGFB 0 genome.wustl.edu 37 22 39631827 39631827 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 22 39631827 39631827 C T SNP PDGFB ENST00000331163 human ensembl 74_37 -1 known missense c.116 p.R39H 1.000 pfam_PDGF_N pfam_PDGF/VEGF_dom,pfam_PDGF_N,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFB HGNC ENSG00000100311 43 0 0 29 10 25.641 ENTHD1 0 genome.wustl.edu 37 22 40140075 40140075 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 22 40140075 40140075 A G SNP ENTHD1 ENST00000325157 human ensembl 74_37 -1 known missense c.1433 p.V478A 0.000 NULL pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors ENTHD1 HGNC ENSG00000176177 65 0 0 48 4 7.69231 TTLL1 0 genome.wustl.edu 37 22 43442449 43442449 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 22 43442449 43442449 G A SNP TTLL1 ENST00000266254 human ensembl 74_37 -1 known missense c.1109 p.P370L 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL1 HGNC ENSG00000100271 235 0 0 220 21 8.71369 KIAA0930 0 genome.wustl.edu 37 22 45595911 45595911 + Silent SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 22 45595911 45595911 G T SNP KIAA0930 ENST00000251993 human ensembl 74_37 -1 known silent c.873 p.T291 0.995 NULL pfam_DUF2045 - no_errors KIAA0930 HGNC ENSG00000100364 38 0 0 47 5 9.61538 PKDREJ 0 genome.wustl.edu 37 22 46657156 46657156 + Silent SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 22 46657156 46657156 C A SNP PKDREJ ENST00000253255 human ensembl 74_37 -1 known silent c.2064 p.V688 0.000 pfam_PKD/REJ-like,pfscan_REJ-like pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2 - no_errors PKDREJ HGNC ENSG00000130943 97 0 0 90 15 14.2857 CELSR1 0 genome.wustl.edu 37 22 46760632 46760632 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 22 46760632 46760632 C T SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known silent c.8556 p.G2852 0.683 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 22 0 0 22 4 15.3846 TUBGCP6 0 genome.wustl.edu 37 22 50660233 50660233 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 22 50660233 50660233 G A SNP TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known missense c.2555 p.S852L 0.000 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 46 0 0 30 17 36.1702 PVRL3 0 genome.wustl.edu 37 3 110831167 110831167 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 110831167 110831167 G A SNP PVRL3 ENST00000485303 human ensembl 74_37 +1 known missense c.451 p.V151I 1.000 pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors PVRL3 HGNC ENSG00000177707 119 0 0 60 16 21.0526 HCLS1 0 genome.wustl.edu 37 3 121350739 121350739 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 121350739 121350739 C T SNP HCLS1 ENST00000314583 human ensembl 74_37 -1 known missense c.1415 p.G472D 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors HCLS1 HGNC ENSG00000180353 80 0 0 55 26 32.0988 CASR 0 genome.wustl.edu 37 3 122002860 122002860 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 122002860 122002860 A G SNP CASR ENST00000498619 human ensembl 74_37 +1 known missense c.2089 p.S697G 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 70 0 0 63 4 5.97015 DTX3L 0 genome.wustl.edu 37 3 122284875 122284875 + Silent SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 122284875 122284875 T C SNP DTX3L ENST00000296161 human ensembl 74_37 +1 known silent c.357 p.H119 0.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3L HGNC ENSG00000163840 55 0 0 52 4 7.14286 PARP14 0 genome.wustl.edu 37 3 122422609 122422609 + Silent SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 122422609 122422609 C A SNP PARP14 ENST00000474629 human ensembl 74_37 +1 known silent c.3102 p.S1034 0.058 smart_Macro_dom,pfscan_Macro_dom pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 22 0 0 8 2 20 RYK 0 genome.wustl.edu 37 3 133878114 133878114 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 133878114 133878114 C T SNP RYK ENST00000427044 human ensembl 74_37 -1 known missense c.1112 p.R371Q 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RYK HGNC ENSG00000163785 35 0 0 25 9 26.4706 AMOTL2 0 genome.wustl.edu 37 3 134089854 134089854 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 134089854 134089854 C T SNP AMOTL2 ENST00000249883 human ensembl 74_37 -1 known missense c.422 p.R141Q 0.000 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL2 HGNC ENSG00000114019 9 0 0 3 3 50 COMMD2 0 genome.wustl.edu 37 3 149459487 149459487 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 149459487 149459487 T C SNP COMMD2 ENST00000473414 human ensembl 74_37 -1 known missense c.421 p.R141G 1.000 pfam_HCaRG pfam_HCaRG - no_errors COMMD2 HGNC ENSG00000114744 112 0 0 73 30 29.1262 P2RY1 0 genome.wustl.edu 37 3 152554180 152554180 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 152554180 152554180 C T SNP P2RY1 ENST00000305097 human ensembl 74_37 +1 known silent c.609 p.Y203 0.467 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y1_rcpt,prints_GPCR_Rhodpsn - no_errors P2RY1 HGNC ENSG00000169860 130 0 0 90 23 20.354 SH3BP5-AS1 0 genome.wustl.edu 37 3 15297933 15297933 + RNA SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 15297933 15297933 A G SNP SH3BP5-AS1 ENST00000420195 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SH3BP5-AS1 HGNC ENSG00000224660 32 0 0 26 2 7.14286 SLITRK3 0 genome.wustl.edu 37 3 164906366 164906366 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 164906366 164906366 G A SNP SLITRK3 ENST00000241274 human ensembl 74_37 -1 known silent c.2253 p.C751 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC ENSG00000121871 100 0 0 40 11 21.5686 BCHE 0 genome.wustl.edu 37 3 165548346 165548346 + Missense_Mutation SNP T T G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 165548346 165548346 T G SNP BCHE ENST00000264381 human ensembl 74_37 -1 known missense c.476 p.K159T 0.989 pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 62 0 0 25 20 44.4444 PLD1 0 genome.wustl.edu 37 3 171330108 171330108 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 171330108 171330108 G A SNP PLD1 ENST00000351298 human ensembl 74_37 -1 known missense c.2843 p.A948V 1.000 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 90 0 0 39 38 49.3506 ACTL6A 0 genome.wustl.edu 37 3 179305773 179305773 + Missense_Mutation SNP A A C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 179305773 179305773 A C SNP ACTL6A ENST00000429709 human ensembl 74_37 +1 known missense c.1265 p.Q422P 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL6A HGNC ENSG00000136518 46 0 0 20 6 23.0769 KLHL6 0 genome.wustl.edu 37 3 183273234 183273234 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 183273234 183273234 C T SNP KLHL6 ENST00000341319 human ensembl 74_37 -1 known missense c.208 p.A70T 0.376 pfam_BTB_POZ,superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL6 HGNC ENSG00000172578 134 0 0 90 58 39.1892 SATB1 0 genome.wustl.edu 37 3 18391065 18391065 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 18391065 18391065 G A SNP SATB1 ENST00000417717 human ensembl 74_37 -1 known missense c.1985 p.T662M 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB1 HGNC ENSG00000182568 55 0 0 27 12 30.7692 SNORD2 0 genome.wustl.edu 37 3 186502615 186502615 + RNA SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 186502615 186502615 C T SNP SNORD2 ENST00000459163 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORD2 HGNC ENSG00000238942 119 0 0 64 31 32.6316 LPP 0 genome.wustl.edu 37 3 188242523 188242523 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 188242523 188242523 G A SNP LPP ENST00000312675 human ensembl 74_37 +1 known missense c.377 p.S126N 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LPP HGNC ENSG00000145012 152 1 0.653595 106 43 28.8591 CCDC50 0 genome.wustl.edu 37 3 191097971 191097971 + Nonsense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 191097971 191097971 G T SNP CCDC50 ENST00000392456 human ensembl 74_37 +1 known nonsense c.1000 p.E334* 0.948 NULL NULL - no_errors CCDC50 HGNC ENSG00000152492 32 0 0 26 9 25.7143 KCNH8 0 genome.wustl.edu 37 3 19389429 19389429 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 19389429 19389429 C T SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known silent c.783 p.D261 1.000 pfam_Ion_trans_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 97 0 0 55 22 28.5714 KCNH8 0 genome.wustl.edu 37 3 19554720 19554720 + Nonsense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 19554720 19554720 G T SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known nonsense c.2338 p.E780* 0.988 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 82 0 0 52 29 35.8025 VILL 0 genome.wustl.edu 37 3 38045884 38045884 + Nonsense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 38045884 38045884 G A SNP VILL ENST00000283713 human ensembl 74_37 +1 known nonsense c.1944 p.W648* 1.000 pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors VILL HGNC ENSG00000136059 53 0 0 34 11 24.4444 SCN5A 0 genome.wustl.edu 37 3 38591857 38591857 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 38591857 38591857 G A SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known silent c.6006 p.A2002 0.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 158 0 0 80 30 27.2727 NKTR 0 genome.wustl.edu 37 3 42674107 42674107 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 42674107 42674107 A G SNP NKTR ENST00000232978 human ensembl 74_37 +1 known missense c.565 p.R189G 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 NKTR HGNC ENSG00000114857 25 0 0 14 5 26.3158 CDCP1 0 genome.wustl.edu 37 3 45153659 45153659 + Nonsense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 45153659 45153659 C A SNP CDCP1 ENST00000296129 human ensembl 74_37 -1 known nonsense c.571 p.G191* 0.997 NULL superfamily_CUB_dom - no_errors CDCP1 HGNC ENSG00000163814 106 0 0 109 7 6.03448 LIMD1 0 genome.wustl.edu 37 3 45637136 45637136 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 45637136 45637136 C T SNP LIMD1 ENST00000273317 human ensembl 74_37 +1 known silent c.765 p.S255 0.001 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMD1 HGNC ENSG00000144791 80 0 0 56 14 20 LTF 0 genome.wustl.edu 37 3 46497878 46497878 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 46497878 46497878 G A SNP LTF ENST00000231751 human ensembl 74_37 -1 known missense c.218 p.A73V 0.912 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors LTF HGNC ENSG00000012223 50 0 0 36 12 25 KIF9 0 genome.wustl.edu 37 3 47277592 47277592 + Nonsense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 47277592 47277592 G A SNP KIF9 ENST00000265529 human ensembl 74_37 -1 known nonsense c.2149 p.Q717* 0.986 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF9 HGNC ENSG00000088727 97 0 0 56 26 31.7073 ITPR1 0 genome.wustl.edu 37 3 4816936 4816936 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 4816936 4816936 G A SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known missense c.5945 p.R1982H 1.000 pfam_RIH_assoc-dom pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 156 0 0 123 9 6.81818 ZNF589 0 genome.wustl.edu 37 3 48310025 48310025 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 48310025 48310025 G T SNP ZNF589 ENST00000354698 human ensembl 74_37 +1 known missense c.844 p.G282W 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF589 HGNC ENSG00000164048 94 0 0 62 17 21.519 MANF 0 genome.wustl.edu 37 3 51425198 51425198 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 51425198 51425198 G T SNP MANF ENST00000528157 human ensembl 74_37 +1 known missense c.253 p.A85S 1.000 pfam_Armet_prot,superfamily_Saposin-like pfam_Armet_prot,superfamily_Saposin-like - no_errors MANF HGNC ENSG00000145050 18 0 0 10 2 16.6667 NISCH 0 genome.wustl.edu 37 3 52523363 52523363 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 52523363 52523363 G A SNP NISCH ENST00000345716 human ensembl 74_37 +1 known missense c.3125 p.R1042H 0.004 NULL pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC ENSG00000010322 47 0 0 36 16 30.7692 CACNA1D 0 genome.wustl.edu 37 3 53766961 53766961 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 53766961 53766961 G A SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known missense c.2653 p.A885T 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 52 0 0 44 4 8.33333 CCDC66 0 genome.wustl.edu 37 3 56651334 56651334 + Nonsense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 56651334 56651334 C T SNP CCDC66 ENST00000394672 human ensembl 74_37 +1 known nonsense c.2038 p.Q680* 0.000 NULL NULL - no_errors CCDC66 HGNC ENSG00000180376 40 0 0 17 10 37.037 FLNB 0 genome.wustl.edu 37 3 58121816 58121816 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 58121816 58121816 C T SNP FLNB ENST00000295956 human ensembl 74_37 +1 known silent c.4782 p.Y1594 0.635 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 40 0 0 37 15 28.8462 CNTN3 0 genome.wustl.edu 37 3 74418379 74418379 + Nonsense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 74418379 74418379 G A SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known nonsense c.907 p.R303* 0.738 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 33 0 0 24 12 33.3333 CHMP2B 0 genome.wustl.edu 37 3 87276641 87276641 + RNA SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 87276641 87276641 C T SNP CHMP2B ENST00000472024 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CHMP2B HGNC ENSG00000083937 60 0 0 54 8 12.9032 THUMPD3 0 genome.wustl.edu 37 3 9426229 9426229 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 9426229 9426229 G A SNP THUMPD3 ENST00000345094 human ensembl 74_37 +1 known missense c.1381 p.V461I 0.011 pfam_RNA_methylase_dom pfam_RNA_methylase_dom,pfam_THUMP,smart_THUMP,pfscan_THUMP - no_errors THUMPD3 HGNC ENSG00000134077 253 0 0 167 81 32.6613 OR5K1 0 genome.wustl.edu 37 3 98188635 98188635 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 98188635 98188635 G T SNP OR5K1 ENST00000332650 human ensembl 74_37 +1 known missense c.215 p.C72F 0.033 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 OR5K1 HGNC ENSG00000232382 240 1 0.414938 167 61 26.7544 CXXC4 0 genome.wustl.edu 37 4 105412446 105412446 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 4 105412446 105412446 G A SNP CXXC4 ENST00000394767 human ensembl 74_37 -1 known missense c.514 p.H172Y 1.000 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors CXXC4 HGNC ENSG00000168772 106 0 0 72 39 35.1351 FAT4 0 genome.wustl.edu 37 4 126370366 126370366 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 4 126370366 126370366 A G SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.8195 p.D2732G 1.000 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 75 0 0 50 20 28.5714 FAT4 0 genome.wustl.edu 37 4 126412392 126412392 + Silent SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 4 126412392 126412392 C A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.14415 p.I4805 1.000 NULL 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 80 0 0 40 18 31.0345 PCDH10 0 genome.wustl.edu 37 4 134071731 134071731 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 4 134071731 134071731 G A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.436 p.A146T 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 104 0 0 62 32 34.0426 CC2D2A 0 genome.wustl.edu 37 4 15569074 15569074 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 4 15569074 15569074 C A SNP CC2D2A ENST00000413206 human ensembl 74_37 +1 known missense c.3257 p.P1086Q 0.932 superfamily_C2_dom,smart_C2_dom superfamily_C2_dom,smart_C2_dom - no_errors CC2D2A HGNC ENSG00000048342 75 0 0 31 11 26.1905 NPY5R 0 genome.wustl.edu 37 4 164272323 164272323 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 4 164272323 164272323 C A SNP NPY5R ENST00000338566 human ensembl 74_37 +1 known missense c.898 p.P300T 0.698 pfam_GPCR_Rhodpsn,prints_NPY5_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_NPY5_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors NPY5R HGNC ENSG00000164129 81 0 0 48 17 26.1538 NPY5R 0 genome.wustl.edu 37 4 164272327 164272327 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 4 164272327 164272327 A G SNP NPY5R ENST00000338566 human ensembl 74_37 +1 known missense c.902 p.E301G 0.008 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_NPY5_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors NPY5R HGNC ENSG00000164129 80 0 0 47 17 26.5625 SORBS2 0 genome.wustl.edu 37 4 186559238 186559238 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 4 186559238 186559238 G A SNP SORBS2 ENST00000393528 human ensembl 74_37 -1 putative missense c.901 p.R301C 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SORBS2 HGNC ENSG00000154556 102 1 0.970874 67 6 8.21918 HTT 0 genome.wustl.edu 37 4 3230455 3230455 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 4 3230455 3230455 G A SNP HTT ENST00000355072 human ensembl 74_37 +1 known silent c.7962 p.T2654 0.062 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 52 0 0 45 10 18.1818 ENSG00000248840 0 genome.wustl.edu 37 4 3314551 3314551 + RNA SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 4 3314551 3314551 G A SNP ENSG00000248840 ENST00000600073 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors RP11-357G3.2 Clone_based_vega_gene ENSG00000248840 18 0 0 12 4 25 EVC 0 genome.wustl.edu 37 4 5733298 5733298 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 4 5733298 5733298 C T SNP EVC ENST00000264956 human ensembl 74_37 +1 known silent c.531 p.S177 0.648 NULL NULL - no_errors EVC HGNC ENSG00000072840 67 0 0 47 22 31.8841 EPHA5 0 genome.wustl.edu 37 4 66189927 66189927 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 4 66189927 66189927 G A SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known missense c.3019 p.R1007W 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_SAM pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 64 0 0 53 24 31.1688 NPFFR2 0 genome.wustl.edu 37 4 73012934 73012934 + Missense_Mutation SNP T T G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 4 73012934 73012934 T G SNP NPFFR2 ENST00000308744 human ensembl 74_37 +1 known missense c.974 p.L325R 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPFF_rcpt_2,prints_NPFF_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPFFR2 HGNC ENSG00000056291 57 0 0 29 16 35.5556 EREG 0 genome.wustl.edu 37 4 75245185 75245185 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 4 75245185 75245185 G A SNP EREG ENST00000244869 human ensembl 74_37 +1 known missense c.88 p.V30I 0.006 NULL pfscan_EG-like_dom - no_errors EREG HGNC ENSG00000124882 158 0 0 84 32 27.5862 USO1 0 genome.wustl.edu 37 4 76731599 76731599 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 4 76731599 76731599 G T SNP USO1 ENST00000538159 human ensembl 74_37 +1 known missense c.2517 p.E839D 0.960 pfam_Uso1_p115_C,superfamily_ARM-type_fold pfam_Vesicle_Uso1_P115_head,pfam_Uso1_p115_C,superfamily_ARM-type_fold,superfamily_t-SNARE - no_errors USO1 HGNC ENSG00000138768 15 0 0 10 4 28.5714 FRAS1 0 genome.wustl.edu 37 4 79328882 79328882 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 4 79328882 79328882 G A SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.4195 p.D1399N 1.000 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 67 0 0 51 26 33.7662 HNRNPDL 0 genome.wustl.edu 37 4 83347709 83347709 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 4 83347709 83347709 C A SNP HNRNPDL ENST00000295470 human ensembl 74_37 -1 known missense c.1099 p.G367C 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPDL HGNC ENSG00000152795 106 0 0 85 13 13.2653 CPZ 0 genome.wustl.edu 37 4 8603164 8603164 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 4 8603164 8603164 T C SNP CPZ ENST00000360986 human ensembl 74_37 +1 known missense c.436 p.C146R 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Frizzled_dom - no_errors CPZ HGNC ENSG00000109625 9 0 0 6 7 53.8462 ARHGAP24 0 genome.wustl.edu 37 4 86915861 86915861 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 4 86915861 86915861 A G SNP ARHGAP24 ENST00000395184 human ensembl 74_37 +1 known missense c.1054 p.K352E 1.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP24 HGNC ENSG00000138639 107 0 0 89 21 19.0909 DRD5 0 genome.wustl.edu 37 4 9783746 9783746 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 4 9783746 9783746 G A SNP DRD5 ENST00000304374 human ensembl 74_37 +1 known silent c.93 p.A31 0.007 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_D5_rcpt,prints_Dopamine_rcpt - no_errors DRD5 HGNC ENSG00000169676 12 0 0 10 5 33.3333 ST8SIA4 0 genome.wustl.edu 37 5 100147820 100147820 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 100147820 100147820 T C SNP ST8SIA4 ENST00000231461 human ensembl 74_37 -1 known missense c.811 p.N271D 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA4 HGNC ENSG00000113532 50 0 0 34 13 27.6596 CAMK4 0 genome.wustl.edu 37 5 110809009 110809009 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 110809009 110809009 C T SNP CAMK4 ENST00000282356 human ensembl 74_37 +1 known missense c.626 p.A209V 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMK4 HGNC ENSG00000152495 131 0 0 66 12 15.3846 APC 0 genome.wustl.edu 37 5 112162834 112162834 + Nonsense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 112162834 112162834 C T SNP APC ENST00000257430 human ensembl 74_37 +1 known nonsense c.1438 p.Q480* 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 55 0 0 35 19 35.1852 PGGT1B 0 genome.wustl.edu 37 5 114588851 114588851 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 114588851 114588851 A G SNP PGGT1B ENST00000419445 human ensembl 74_37 -1 known missense c.242 p.V81A 1.000 superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors PGGT1B HGNC ENSG00000164219 69 0 0 68 5 6.84932 ADAMTS19 0 genome.wustl.edu 37 5 128984551 128984551 + Missense_Mutation SNP T T A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 128984551 128984551 T A SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known missense c.2046 p.N682K 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 114 0 0 81 31 27.6786 CHSY3 0 genome.wustl.edu 37 5 129243994 129243994 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 129243994 129243994 G A SNP CHSY3 ENST00000305031 human ensembl 74_37 +1 known missense c.1027 p.V343M 1.000 pfam_Chond_GalNAc,pfam_Fringe-like pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY3 HGNC ENSG00000198108 62 0 0 54 13 19.403 TIFAB 0 genome.wustl.edu 37 5 134785283 134785283 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 134785283 134785283 A G SNP TIFAB ENST00000537858 human ensembl 74_37 -1 known missense c.347 p.V116A 0.000 superfamily_SMAD_FHA_domain pfam_FHA_dom,superfamily_SMAD_FHA_domain - no_errors TIFAB HGNC ENSG00000255833 111 0 0 62 32 34.0426 DNAH5 0 genome.wustl.edu 37 5 13829793 13829793 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 13829793 13829793 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known silent c.6270 p.R2090 0.883 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 59 0 0 34 11 24.4444 DNAH5 0 genome.wustl.edu 37 5 13830149 13830149 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 13830149 13830149 G T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.6235 p.L2079I 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 45 0 0 27 2 6.89655 PCDHA10 0 genome.wustl.edu 37 5 140237829 140237829 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 140237829 140237829 G A SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known silent c.2196 p.P732 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 34 0 0 17 10 37.037 PCDHB4 0 genome.wustl.edu 37 5 140503167 140503167 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 140503167 140503167 C T SNP PCDHB4 ENST00000194152 human ensembl 74_37 +1 known silent c.1587 p.R529 0.003 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC ENSG00000081818 87 0 0 65 25 27.7778 PCDHB8 0 genome.wustl.edu 37 5 140559327 140559327 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 140559327 140559327 C T SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known missense c.1712 p.A571V 0.086 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 118 0 0 107 16 13.0081 PCDHB16 0 genome.wustl.edu 37 5 140563551 140563551 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 140563551 140563551 G A SNP PCDHB16 ENST00000361016 human ensembl 74_37 +1 known missense c.1417 p.V473I 0.190 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC ENSG00000196963 175 0 0 193 11 5.39216 PCDHGB7 0 genome.wustl.edu 37 5 140799030 140799030 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 140799030 140799030 G A SNP PCDHGB7 ENST00000398594 human ensembl 74_37 +1 known missense c.1604 p.R535H 0.361 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 48 0 0 30 14 31.8182 PCDH1 0 genome.wustl.edu 37 5 141243291 141243291 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 141243291 141243291 C T SNP PCDH1 ENST00000287008 human ensembl 74_37 -1 known missense c.2605 p.A869T 0.749 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 304 0 0 211 100 32.1543 TRIO 0 genome.wustl.edu 37 5 14401083 14401083 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 14401083 14401083 G T SNP TRIO ENST00000344204 human ensembl 74_37 +1 known missense c.4626 p.L1542F 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 63 0 0 47 3 6 TRIO 0 genome.wustl.edu 37 5 14485239 14485239 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 14485239 14485239 C T SNP TRIO ENST00000344204 human ensembl 74_37 +1 known missense c.6719 p.S2240L 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 108 0 0 70 30 30 TRIO 0 genome.wustl.edu 37 5 14504593 14504593 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 14504593 14504593 G A SNP TRIO ENST00000344204 human ensembl 74_37 +1 known missense c.8503 p.D2835N 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_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 227 0 0 198 67 25.283 TCERG1 0 genome.wustl.edu 37 5 145878172 145878172 + Silent SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 145878172 145878172 C A SNP TCERG1 ENST00000296702 human ensembl 74_37 +1 known silent c.2305 p.R769 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 38 0 0 30 3 9.09091 GPR151 0 genome.wustl.edu 37 5 145895064 145895064 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 145895064 145895064 G A SNP GPR151 ENST00000311104 human ensembl 74_37 -1 known missense c.613 p.L205F 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR151 HGNC ENSG00000173250 37 0 0 20 10 33.3333 PPP2R2B 0 genome.wustl.edu 37 5 145969461 145969461 + RNA SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 145969461 145969461 G T SNP PPP2R2B ENST00000530902 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PPP2R2B HGNC ENSG00000156475 81 0 0 36 20 35.7143 PDE6A 0 genome.wustl.edu 37 5 149274815 149274815 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 149274815 149274815 G A SNP PDE6A ENST00000255266 human ensembl 74_37 -1 known silent c.1659 p.Y553 1.000 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6A HGNC ENSG00000132915 121 1 0.819672 75 42 35.8974 LPCAT1 0 genome.wustl.edu 37 5 1501615 1501615 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 1501615 1501615 G A SNP LPCAT1 ENST00000283415 human ensembl 74_37 -1 known missense c.239 p.A80V 0.232 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors LPCAT1 HGNC ENSG00000153395 31 0 0 24 14 36.8421 FAT2 0 genome.wustl.edu 37 5 150892047 150892047 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 150892047 150892047 C T SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.11584 p.A3862T 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 80 0 0 54 29 34.9398 FAT2 0 genome.wustl.edu 37 5 150948063 150948063 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 150948063 150948063 G T SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.430 p.L144M 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 108 0 0 86 37 30.0813 MAT2B 0 genome.wustl.edu 37 5 162945228 162945228 + Silent SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 162945228 162945228 A G SNP MAT2B ENST00000321757 human ensembl 74_37 +1 known silent c.864 p.Q288 0.011 pfam_dTDP_dehydrorham_reduct pfam_dTDP_dehydrorham_reduct,pfam_Epimerase_deHydtase,pfam_Polysac_CapD-like,pfam_3Beta_OHSteriod_DH/Estase - no_errors MAT2B HGNC ENSG00000038274 25 0 0 23 10 30.303 TENM2 0 genome.wustl.edu 37 5 167673928 167673928 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 167673928 167673928 C T SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known missense c.5984 p.S1995L 0.997 superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 64 0 0 59 16 21.3333 RARS 0 genome.wustl.edu 37 5 167937620 167937620 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 167937620 167937620 C T SNP RARS ENST00000231572 human ensembl 74_37 +1 known missense c.1381 p.R461C 1.000 pfam_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,pfam_Arg-tRNA-synth_N,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia - no_errors RARS HGNC ENSG00000113643 45 0 0 33 3 8.33333 DOCK2 0 genome.wustl.edu 37 5 169267846 169267846 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 169267846 169267846 A G SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.2789 p.H930R 0.936 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 46 0 0 33 9 21.4286 GRK6 0 genome.wustl.edu 37 5 176861093 176861093 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 176861093 176861093 G A SNP GRK6 ENST00000528793 human ensembl 74_37 +1 known missense c.917 p.R306H 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_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK6 HGNC ENSG00000198055 27 0 0 13 6 31.5789 FLT4 0 genome.wustl.edu 37 5 180048836 180048836 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 180048836 180048836 G T SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known missense c.1726 p.L576M 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-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_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 122 0 0 105 32 23.3577 FLT4 0 genome.wustl.edu 37 5 180056346 180056346 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 180056346 180056346 C T SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known missense c.898 p.V300I 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-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_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 61 0 0 47 20 29.8507 TRIM7 0 genome.wustl.edu 37 5 180630566 180630566 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 180630566 180630566 C A SNP TRIM7 ENST00000274773 human ensembl 74_37 -1 known missense c.597 p.K199N 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM7 HGNC ENSG00000146054 64 0 0 36 23 38.9831 IRX2 0 genome.wustl.edu 37 5 2748541 2748541 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 2748541 2748541 C T SNP IRX2 ENST00000302057 human ensembl 74_37 -1 known silent c.1281 p.A427 0.971 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX2 HGNC ENSG00000170561 11 0 0 2 4 66.6667 RXFP3 0 genome.wustl.edu 37 5 33937043 33937043 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 33937043 33937043 G A SNP RXFP3 ENST00000330120 human ensembl 74_37 +1 known silent c.198 p.P66 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 79 0 0 46 23 33.3333 IRX1 0 genome.wustl.edu 37 5 3600194 3600194 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 3600194 3600194 G A SNP IRX1 ENST00000302006 human ensembl 74_37 +1 known missense c.1132 p.A378T 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX1 HGNC ENSG00000170549 23 0 0 16 16 50 DAB2 0 genome.wustl.edu 37 5 39377057 39377057 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 39377057 39377057 A G SNP DAB2 ENST00000320816 human ensembl 74_37 -1 known missense c.1832 p.M611T 0.006 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB2 HGNC ENSG00000153071 153 0 0 129 54 29.5082 AHRR 0 genome.wustl.edu 37 5 433983 433983 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 433983 433983 G A SNP AHRR ENST00000316418 human ensembl 74_37 +1 known silent c.1194 p.E398 0.000 NULL pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors AHRR HGNC ENSG00000063438 25 0 0 9 7 43.75 ANKRA2 0 genome.wustl.edu 37 5 72857049 72857049 + Silent SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 72857049 72857049 A G SNP ANKRA2 ENST00000296785 human ensembl 74_37 -1 known silent c.354 p.S118 0.997 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 ANKRA2 HGNC ENSG00000164331 86 0 0 38 26 40.625 HOMER1 0 genome.wustl.edu 37 5 78693429 78693429 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 78693429 78693429 G T SNP HOMER1 ENST00000334082 human ensembl 74_37 -1 known missense c.716 p.A239E 1.000 NULL pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors HOMER1 HGNC ENSG00000152413 144 0 0 69 22 24.1758 VCAN 0 genome.wustl.edu 37 5 82835533 82835533 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 82835533 82835533 G A SNP VCAN ENST00000265077 human ensembl 74_37 +1 known silent c.6711 p.P2237 0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 57 0 0 38 18 32.1429 CCNH 0 genome.wustl.edu 37 5 86695286 86695286 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 86695286 86695286 C T SNP CCNH ENST00000256897 human ensembl 74_37 -1 known missense c.797 p.R266K 0.931 superfamily_Cyclin-like,pirsf_CyclinC,tigrfam_CyclinH/Ccl1 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_CyclinC,tigrfam_CyclinH/Ccl1 - no_errors CCNH HGNC ENSG00000134480 208 0 0 121 47 27.9762 HDDC2 0 genome.wustl.edu 37 6 125619888 125619888 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 125619888 125619888 G T SNP HDDC2 ENST00000398153 human ensembl 74_37 -1 known missense c.281 p.P94H 1.000 pfam_HD_domain,smart_HD/PDEase_dom pfam_HD_domain,smart_HD/PDEase_dom - no_errors HDDC2 HGNC ENSG00000111906 86 0 0 54 24 30.7692 TMEM200A 0 genome.wustl.edu 37 6 130762378 130762378 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 130762378 130762378 G A SNP TMEM200A ENST00000296978 human ensembl 74_37 +1 known missense c.811 p.G271S 0.000 NULL pfam_DUF2371_TMEM200 - no_errors TMEM200A HGNC ENSG00000164484 130 0 0 83 31 27.193 MOXD1 0 genome.wustl.edu 37 6 132643931 132643931 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 132643931 132643931 T C SNP MOXD1 ENST00000367963 human ensembl 74_37 -1 known missense c.1192 p.R398G 1.000 superfamily_PHM/PNGase_F_dom pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors MOXD1 HGNC ENSG00000079931 49 0 0 44 17 27.8689 HIVEP2 0 genome.wustl.edu 37 6 143093193 143093193 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 143093193 143093193 C T SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known missense c.2683 p.E895K 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 54 0 0 32 11 25.5814 UTRN 0 genome.wustl.edu 37 6 144780470 144780470 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 144780470 144780470 G A SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.2687 p.R896H 0.001 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,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 61 0 0 52 18 25.7143 SYNE1 0 genome.wustl.edu 37 6 152476161 152476161 + Nonsense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 152476161 152476161 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known nonsense c.23995 p.R7999* 0.997 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 139 1 0.714286 92 25 21.3675 LPAL2 0 genome.wustl.edu 37 6 160908436 160908436 + RNA SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 160908436 160908436 G T SNP LPAL2 ENST00000335388 human ensembl 74_37 -1 known rna NULL NULL 0.926 - - - no_errors LPAL2 HGNC ENSG00000213071 89 0 0 61 4 6.15385 FRMD1 0 genome.wustl.edu 37 6 168461723 168461723 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 168461723 168461723 G A SNP FRMD1 ENST00000283309 human ensembl 74_37 -1 known missense c.1060 p.R354W 1.000 pfscan_FERM_domain pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD1 HGNC ENSG00000153303 34 0 0 9 7 43.75 MRS2 0 genome.wustl.edu 37 6 24418358 24418358 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 24418358 24418358 C T SNP MRS2 ENST00000443868 human ensembl 74_37 +1 known silent c.892 p.L298 1.000 NULL NULL - no_errors MRS2 HGNC ENSG00000124532 158 0 0 93 34 26.7717 ZNF322 0 genome.wustl.edu 37 6 26638628 26638628 + Missense_Mutation SNP A A C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 26638628 26638628 A C SNP ZNF322 ENST00000415922 human ensembl 74_37 -1 known missense c.154 p.F52V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF322 HGNC ENSG00000181315 443 0 0 230 74 24.3421 OR2J2 0 genome.wustl.edu 37 6 29141713 29141713 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 29141713 29141713 C A SNP OR2J2 ENST00000377167 human ensembl 74_37 +1 known missense c.301 p.Q101K 0.789 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2J2 HGNC ENSG00000204700 196 0 0 106 50 32.0513 HLA-J 0 genome.wustl.edu 37 6 29976077 29976077 + RNA SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 29976077 29976077 G A SNP HLA-J ENST00000462773 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors HLA-J HGNC ENSG00000204622 71 0 0 55 5 8.33333 PPP1R18 0 genome.wustl.edu 37 6 30647115 30647115 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 30647115 30647115 A G SNP PPP1R18 ENST00000274853 human ensembl 74_37 -1 known missense c.1663 p.S555P 0.994 NULL NULL - no_errors PPP1R18 HGNC ENSG00000146112 54 0 0 57 3 5 MDC1 0 genome.wustl.edu 37 6 30672422 30672422 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 30672422 30672422 C T SNP MDC1 ENST00000376406 human ensembl 74_37 -1 known missense c.4538 p.R1513Q 0.000 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 171 0 0 125 52 29.3785 VWA7 0 genome.wustl.edu 37 6 31734483 31734483 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 31734483 31734483 C T SNP VWA7 ENST00000447450 human ensembl 74_37 -1 known missense c.1921 p.G641R 0.000 NULL NULL - no_errors VWA7 HGNC ENSG00000204396 103 0 0 93 5 5.10204 EHMT2 0 genome.wustl.edu 37 6 31857080 31857080 + Nonsense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 31857080 31857080 G A SNP EHMT2 ENST00000395728 human ensembl 74_37 -1 known nonsense c.1210 p.R404* 1.000 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 28 0 0 21 7 25 SKIV2L 0 genome.wustl.edu 37 6 31931727 31931727 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 31931727 31931727 G A SNP SKIV2L ENST00000375394 human ensembl 74_37 +1 known missense c.1685 p.R562H 0.829 superfamily_P-loop_NTPase,pirsf_RNA_helicase_ATP-dep_SK12/DOB1 pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L HGNC ENSG00000204351 311 0 0 206 79 27.7193 C4B 0 genome.wustl.edu 37 6 31997400 31997400 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 31997400 31997400 C T SNP C4B ENST00000435363 human ensembl 74_37 +1 known missense c.3734 p.P1245L 0.000 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_TIMP-like_OB-fold,superfamily_Anaphylatoxin_comp_syst,superfamily_Invasin/intimin_cell_adhesion,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom - no_errors C4B HGNC ENSG00000224389 50 0 0 24 7 22.5806 TNXB 0 genome.wustl.edu 37 6 32036744 32036744 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 32036744 32036744 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known silent c.5757 p.D1919 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 157 0 0 106 51 32.4841 HLA-DMB 0 genome.wustl.edu 37 6 32903313 32903313 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 32903313 32903313 T C SNP HLA-DMB ENST00000418107 human ensembl 74_37 -1 known missense c.739 p.S247G 0.519 NULL pfam_Ig_C1-set,pfam_MHC_II_b_N,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DMB HGNC ENSG00000242574 189 0 0 108 49 31.2102 TAPBP 0 genome.wustl.edu 37 6 33281220 33281220 + Silent SNP C C G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 33281220 33281220 C G SNP TAPBP ENST00000426633 human ensembl 74_37 -1 known silent c.243 p.R81 0.394 NULL pfam_Ig_C1-set,pfscan_Ig-like_dom,prints_Tapasin - no_errors TAPBP HGNC ENSG00000231925 13 0 0 12 5 29.4118 GRM4 0 genome.wustl.edu 37 6 34101144 34101144 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 34101144 34101144 G A SNP GRM4 ENST00000374181 human ensembl 74_37 -1 known missense c.130 p.R44C 1.000 superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_4 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B - no_errors GRM4 HGNC ENSG00000124493 43 0 0 33 3 8.33333 MTCH1 0 genome.wustl.edu 37 6 36946316 36946316 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 36946316 36946316 C T SNP MTCH1 ENST00000373627 human ensembl 74_37 -1 known missense c.478 p.A160T 1.000 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 MTCH1 HGNC ENSG00000137409 150 0 0 101 34 25.1852 MOCS1 0 genome.wustl.edu 37 6 39881119 39881119 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 39881119 39881119 C T SNP MOCS1 ENST00000340692 human ensembl 74_37 -1 known silent c.699 p.A233 1.000 pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_MoaA pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C - no_errors MOCS1 HGNC ENSG00000124615 75 0 0 55 23 29.4872 PRPF4B 0 genome.wustl.edu 37 6 4056600 4056600 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 4056600 4056600 G A SNP PRPF4B ENST00000337659 human ensembl 74_37 +1 known missense c.2512 p.A838T 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRPF4B HGNC ENSG00000112739 144 0 0 77 33 30 TREM1 0 genome.wustl.edu 37 6 41243898 41243898 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 41243898 41243898 G T SNP TREM1 ENST00000244709 human ensembl 74_37 -1 known missense c.670 p.L224M 0.043 NULL pfam_Ig_V-set,smart_Ig_sub - no_errors TREM1 HGNC ENSG00000124731 78 0 0 63 19 23.1707 NCR2 0 genome.wustl.edu 37 6 41309825 41309825 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 41309825 41309825 G A SNP NCR2 ENST00000373089 human ensembl 74_37 +1 known silent c.582 p.V194 0.002 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors NCR2 HGNC ENSG00000096264 143 0 0 105 48 31.3725 CYP39A1 0 genome.wustl.edu 37 6 46607365 46607365 + Missense_Mutation SNP T T A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 46607365 46607365 T A SNP CYP39A1 ENST00000275016 human ensembl 74_37 -1 known missense c.354 p.K118N 0.073 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP39A1 HGNC ENSG00000146233 30 0 0 24 10 29.4118 FARS2 0 genome.wustl.edu 37 6 5369396 5369396 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 5369396 5369396 G A SNP FARS2 ENST00000274680 human ensembl 74_37 +1 known missense c.593 p.R198Q 1.000 pfam_Phenylalanyl-tRNA_Synthase,pfscan_aa-tRNA-synth_II pfam_Phenylalanyl-tRNA_Synthase,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_mito - no_errors FARS2 HGNC ENSG00000145982 46 0 0 26 11 29.7297 FILIP1 0 genome.wustl.edu 37 6 76024734 76024734 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 76024734 76024734 T C SNP FILIP1 ENST00000237172 human ensembl 74_37 -1 known missense c.814 p.T272A 0.248 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 121 0 0 68 41 37.6147 MYO6 0 genome.wustl.edu 37 6 76582940 76582940 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 76582940 76582940 G T SNP MYO6 ENST00000369981 human ensembl 74_37 +1 known missense c.2000 p.R667L 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 49 0 0 23 13 36.1111 LCA5 0 genome.wustl.edu 37 6 80223368 80223368 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 80223368 80223368 C T SNP LCA5 ENST00000369846 human ensembl 74_37 -1 known missense c.281 p.R94Q 1.000 NULL NULL - no_errors LCA5 HGNC ENSG00000135338 226 0 0 141 53 27.3196 BCKDHB 0 genome.wustl.edu 37 6 80881109 80881109 + Splice_Site SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 80881109 80881109 T C SNP BCKDHB ENST00000320393 human ensembl 74_37 +1 known splice_site c.742+2 e6+2 1.000 - - - no_errors BCKDHB HGNC ENSG00000083123 38 0 0 10 5 33.3333 SNX14 0 genome.wustl.edu 37 6 86256893 86256893 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 86256893 86256893 G A SNP SNX14 ENST00000314673 human ensembl 74_37 -1 known missense c.1045 p.R349C 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Phox,superfamily_Regulat_G_prot_signal_superfam,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX14 HGNC ENSG00000135317 36 0 0 30 7 18.9189 SNX14 0 genome.wustl.edu 37 6 86283982 86283982 + Silent SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 86283982 86283982 T C SNP SNX14 ENST00000314673 human ensembl 74_37 -1 known silent c.255 p.K85 1.000 NULL pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Phox,superfamily_Regulat_G_prot_signal_superfam,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX14 HGNC ENSG00000135317 138 0 0 45 19 29.6875 ZNF292 0 genome.wustl.edu 37 6 87925676 87925676 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 87925676 87925676 T C SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known missense c.224 p.L75S 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 52 0 0 32 2 5.88235 EPHA7 0 genome.wustl.edu 37 6 93982022 93982022 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 93982022 93982022 G A SNP EPHA7 ENST00000369303 human ensembl 74_37 -1 known silent c.1443 p.Y481 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA7 HGNC ENSG00000135333 217 0 0 139 56 28.7179 TSC22D4 0 genome.wustl.edu 37 7 100064674 100064674 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 100064674 100064674 G A SNP TSC22D4 ENST00000300181 human ensembl 74_37 -1 known missense c.1096 p.R366C 0.989 pfam_TSC-22_Dip_Bun pfam_TSC-22_Dip_Bun - no_errors TSC22D4 HGNC ENSG00000166925 25 0 0 17 11 39.2857 CUX1 0 genome.wustl.edu 37 7 101671385 101671385 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 101671385 101671385 G A SNP CUX1 ENST00000360264 human ensembl 74_37 +1 known missense c.182 p.R61H 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 61 0 0 27 2 6.89655 CUX1 0 genome.wustl.edu 37 7 101870917 101870917 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 101870917 101870917 G A SNP CUX1 ENST00000360264 human ensembl 74_37 +1 known missense c.3434 p.R1145Q 1.000 pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 91 0 0 38 25 39.6825 ORAI2 0 genome.wustl.edu 37 7 102087196 102087196 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 102087196 102087196 C T SNP ORAI2 ENST00000356387 human ensembl 74_37 +1 known silent c.462 p.T154 0.759 pfam_CRAC_channel pfam_CRAC_channel - no_errors ORAI2 HGNC ENSG00000160991 180 0 0 171 35 16.9903 PMPCB 0 genome.wustl.edu 37 7 102948086 102948086 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 102948086 102948086 C T SNP PMPCB ENST00000249269 human ensembl 74_37 +1 known silent c.780 p.F260 0.999 pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors PMPCB HGNC ENSG00000105819 66 0 0 38 19 33.3333 RELN 0 genome.wustl.edu 37 7 103113285 103113285 + Nonsense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 103113285 103113285 G A SNP RELN ENST00000424685 human ensembl 74_37 -1 known nonsense c.10357 p.R3453* 1.000 NULL pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 69 0 0 50 27 35.0649 RELN 0 genome.wustl.edu 37 7 103124242 103124242 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 103124242 103124242 T C SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.10039 p.S3347G 1.000 NULL pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 85 0 0 77 40 34.188 ATXN7L1 0 genome.wustl.edu 37 7 105429099 105429099 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 105429099 105429099 G A SNP ATXN7L1 ENST00000419735 human ensembl 74_37 -1 known silent c.306 p.C102 1.000 NULL pfam_SCA7_dom - no_errors ATXN7L1 HGNC ENSG00000146776 58 0 0 51 22 30.137 LRRN3 0 genome.wustl.edu 37 7 110764026 110764026 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 110764026 110764026 C T SNP LRRN3 ENST00000308478 human ensembl 74_37 +1 known missense c.1198 p.P400S 1.000 smart_Cys-rich_flank_reg_C pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN3 HGNC ENSG00000173114 68 0 0 52 24 31.5789 THSD7A 0 genome.wustl.edu 37 7 11675852 11675852 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 11675852 11675852 C A SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known missense c.927 p.Q309H 1.000 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 113 0 0 65 35 35 GRM8 0 genome.wustl.edu 37 7 126173502 126173502 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 126173502 126173502 G T SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known missense c.1934 p.T645K 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 59 0 0 38 18 32.1429 FSCN3 0 genome.wustl.edu 37 7 127235874 127235874 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 127235874 127235874 C T SNP FSCN3 ENST00000265825 human ensembl 74_37 +1 known missense c.658 p.R220W 0.979 superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN3 HGNC ENSG00000106328 81 0 0 88 5 5.37634 FLNC 0 genome.wustl.edu 37 7 128470957 128470957 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 128470957 128470957 G A SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.266 p.R89H 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 71 0 0 52 12 18.75 CNTNAP2 0 genome.wustl.edu 37 7 146741062 146741062 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 146741062 146741062 G A SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.466 p.A156T 0.997 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 167 0 0 127 45 26.1628 SSPO 0 genome.wustl.edu 37 7 149500830 149500830 + RNA SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 149500830 149500830 C T SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.928 - - - no_errors SSPO HGNC ENSG00000197558 11 0 0 6 5 45.4545 GIMAP7 0 genome.wustl.edu 37 7 150217082 150217082 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 150217082 150217082 G A SNP GIMAP7 ENST00000313543 human ensembl 74_37 +1 known missense c.20 p.R7H 0.000 superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP7 HGNC ENSG00000179144 62 0 0 36 25 40.9836 ASB10 0 genome.wustl.edu 37 7 150883931 150883931 + Missense_Mutation SNP C C G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 150883931 150883931 C G SNP ASB10 ENST00000422024 human ensembl 74_37 -1 known missense c.422 p.R141T 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB10 HGNC ENSG00000146926 16 0 0 21 5 19.2308 NUB1 0 genome.wustl.edu 37 7 151065014 151065014 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 151065014 151065014 A G SNP NUB1 ENST00000568733 human ensembl 74_37 +1 known missense c.1127 p.H376R 1.000 superfamily_UBA-like pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors NUB1 HGNC ENSG00000013374 15 0 0 4 2 33.3333 PRKAG2 0 genome.wustl.edu 37 7 151329217 151329217 + Missense_Mutation SNP A A C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 151329217 151329217 A C SNP PRKAG2 ENST00000287878 human ensembl 74_37 -1 known missense c.692 p.L231R 0.993 NULL pfam_CBS_dom,smart_CBS_dom - no_errors PRKAG2 HGNC ENSG00000106617 41 0 0 17 7 29.1667 INTS1 0 genome.wustl.edu 37 7 1514368 1514368 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 1514368 1514368 G A SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known missense c.6221 p.A2074V 1.000 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 8 0 0 5 4 44.4444 INTS1 0 genome.wustl.edu 37 7 1533409 1533409 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 1533409 1533409 C T SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known silent c.2433 p.A811 0.478 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 8 0 0 3 2 40 DFNA5 0 genome.wustl.edu 37 7 24784260 24784260 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 24784260 24784260 C T SNP DFNA5 ENST00000342947 human ensembl 74_37 -1 known missense c.325 p.V109I 0.109 pfam_Gasdermin pfam_Gasdermin - no_errors DFNA5 HGNC ENSG00000105928 62 0 0 32 23 41.8182 WIPF3 0 genome.wustl.edu 37 7 29915533 29915533 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 29915533 29915533 C T SNP WIPF3 ENST00000242140 human ensembl 74_37 +1 known missense c.178 p.R60C 0.203 pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF3 HGNC ENSG00000122574 55 0 0 52 5 8.77193 C7orf41 0 genome.wustl.edu 37 7 30197086 30197086 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 30197086 30197086 G A SNP C7orf41 ENST00000324453 human ensembl 74_37 +1 known silent c.318 p.A106 0.001 NULL NULL - no_errors C7orf41 HGNC ENSG00000180354 232 1 0.429185 146 65 30.8057 KIAA0895 0 genome.wustl.edu 37 7 36396457 36396457 + Missense_Mutation SNP G G C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 36396457 36396457 G C SNP KIAA0895 ENST00000415803 human ensembl 74_37 -1 known missense c.882 p.I294M 0.000 NULL NULL - no_errors KIAA0895 HGNC ENSG00000164542 19 0 0 13 5 27.7778 KIAA0895 0 genome.wustl.edu 37 7 36396613 36396613 + Missense_Mutation SNP G G C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 36396613 36396613 G C SNP KIAA0895 ENST00000297063 human ensembl 74_37 -1 known missense c.765 p.F255L 1.000 NULL pfam_DUF1704 - no_errors KIAA0895 HGNC ENSG00000164542 68 0 0 46 25 35.2113 KIAA0895 0 genome.wustl.edu 37 7 36397160 36397160 + Missense_Mutation SNP G G C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 36397160 36397160 G C SNP KIAA0895 ENST00000297063 human ensembl 74_37 -1 known missense c.218 p.S73C 0.850 NULL pfam_DUF1704 - no_errors KIAA0895 HGNC ENSG00000164542 47 0 0 26 14 35 NME8 0 genome.wustl.edu 37 7 37901736 37901736 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 37901736 37901736 C T SNP NME8 ENST00000199447 human ensembl 74_37 +1 known missense c.377 p.A126V 0.000 NULL pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase - no_errors NME8 HGNC ENSG00000086288 36 0 0 29 9 23.6842 SDK1 0 genome.wustl.edu 37 7 4188998 4188998 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 4188998 4188998 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.4528 p.R1510W 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 16 0 0 7 4 36.3636 CCM2 0 genome.wustl.edu 37 7 45115406 45115406 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 45115406 45115406 G A SNP CCM2 ENST00000381112 human ensembl 74_37 +1 known missense c.1148 p.S383N 1.000 NULL pfscan_PTB/PI_dom - no_errors CCM2 HGNC ENSG00000136280 76 0 0 52 15 22.3881 TNS3 0 genome.wustl.edu 37 7 47333332 47333332 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 47333332 47333332 G A SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known silent c.3771 p.F1257 0.008 pfam_SH2,smart_SH2,pfscan_SH2 pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 104 0 0 83 21 20.1923 TMEM248 0 genome.wustl.edu 37 7 66413644 66413644 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 66413644 66413644 A G SNP TMEM248 ENST00000341567 human ensembl 74_37 +1 known missense c.559 p.T187A 1.000 NULL NULL - no_errors TMEM248 HGNC ENSG00000106609 62 0 0 52 3 5.45455 HIP1 0 genome.wustl.edu 37 7 75168711 75168711 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 75168711 75168711 C T SNP HIP1 ENST00000336926 human ensembl 74_37 -1 known missense c.2993 p.R998H 1.000 pfam_ILWEQ_dom,smart_ILWEQ_dom,pfscan_ILWEQ_dom pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom - no_errors HIP1 HGNC ENSG00000127946 292 0 0 191 58 23.2932 MAGI2 0 genome.wustl.edu 37 7 77814969 77814969 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 77814969 77814969 G T SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known missense c.2288 p.T763N 1.000 superfamily_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI2 HGNC ENSG00000187391 91 0 0 74 27 26.7327 GRM3 0 genome.wustl.edu 37 7 86468840 86468840 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 86468840 86468840 C T SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known silent c.2010 p.F670 0.949 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 116 0 0 113 8 6.61157 ABCB4 0 genome.wustl.edu 37 7 87076415 87076415 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 87076415 87076415 G T SNP ABCB4 ENST00000265723 human ensembl 74_37 -1 known missense c.940 p.L314M 0.986 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,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB4 HGNC ENSG00000005471 66 0 0 34 3 8.10811 SLC25A13 0 genome.wustl.edu 37 7 95906629 95906629 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 95906629 95906629 C T SNP SLC25A13 ENST00000416240 human ensembl 74_37 -1 known missense c.91 p.G31S 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A13 HGNC ENSG00000004864 45 0 0 27 8 22.8571 RIMS2 0 genome.wustl.edu 37 8 105161049 105161049 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 8 105161049 105161049 C T SNP RIMS2 ENST00000436393 human ensembl 74_37 +1 novel missense c.3361 p.R1121C 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors RIMS2 HGNC ENSG00000176406 94 0 0 68 20 22.7273 DCSTAMP 0 genome.wustl.edu 37 8 105361503 105361503 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 8 105361503 105361503 G T SNP DCSTAMP ENST00000297581 human ensembl 74_37 +1 known missense c.723 p.K241N 0.994 NULL pfam_DC_STAMP-like,superfamily_ABC1_TM_dom - no_errors DCSTAMP HGNC ENSG00000164935 82 0 0 44 16 26.6667 CTSB 0 genome.wustl.edu 37 8 11703216 11703216 + Silent SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 8 11703216 11703216 G T SNP CTSB ENST00000345125 human ensembl 74_37 -1 known silent c.876 p.P292 0.998 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Propeptide_C1A,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSB HGNC ENSG00000164733 61 0 0 39 19 32.7586 FER1L6 0 genome.wustl.edu 37 8 125083798 125083798 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 8 125083798 125083798 G A SNP FER1L6 ENST00000399018 human ensembl 74_37 +1 known missense c.4018 p.G1340R 0.898 superfamily_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 65 0 0 47 27 36.4865 ENSG00000223697 0 genome.wustl.edu 37 8 133851615 133851615 + RNA SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 8 133851615 133851615 A G SNP ENSG00000223697 ENST00000429151 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AF230666.2 Clone_based_vega_gene ENSG00000223697 97 0 0 73 30 29.1262 TG 0 genome.wustl.edu 37 8 133898733 133898733 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 8 133898733 133898733 G A SNP TG ENST00000220616 human ensembl 74_37 +1 known silent c.1116 p.L372 1.000 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 132 1 0.75188 92 47 33.8129 WISP1 0 genome.wustl.edu 37 8 134239730 134239730 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 8 134239730 134239730 G A SNP WISP1 ENST00000250160 human ensembl 74_37 +1 known missense c.881 p.R294H 0.075 pfam_Cys_knot,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP1 HGNC ENSG00000104415 95 0 0 86 8 8.51064 KCNK9 0 genome.wustl.edu 37 8 140631311 140631311 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 8 140631311 140631311 C T SNP KCNK9 ENST00000303015 human ensembl 74_37 -1 known silent c.315 p.A105 0.037 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK9,prints_2pore_dom_K_chnl - no_errors KCNK9 HGNC ENSG00000169427 24 0 0 19 11 36.6667 SCRT1 0 genome.wustl.edu 37 8 145557213 145557213 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 8 145557213 145557213 G A SNP SCRT1 ENST00000332135 human ensembl 74_37 -1 known silent c.681 p.C227 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SCRT1 HGNC ENSG00000170616 20 0 0 8 10 55.5556 LRRC14 0 genome.wustl.edu 37 8 145749487 145749487 + RNA SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 8 145749487 145749487 G T SNP LRRC14 ENST00000528528 human ensembl 74_37 +1 known rna NULL NULL 0.022 - - - no_errors LRRC14 HGNC ENSG00000160959 167 0 0 113 37 24.6667 TUSC3 0 genome.wustl.edu 37 8 15601103 15601103 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 8 15601103 15601103 G A SNP TUSC3 ENST00000503731 human ensembl 74_37 +1 known missense c.919 p.D307N 1.000 pfam_OligosaccharylTrfase_OST3/OST6 pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TUSC3 HGNC ENSG00000104723 157 0 0 78 36 31.5789 NAT2 0 genome.wustl.edu 37 8 18258064 18258064 + Missense_Mutation SNP A A C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 8 18258064 18258064 A C SNP NAT2 ENST00000286479 human ensembl 74_37 +1 known missense c.551 p.K184T 0.000 pfam_Arylamine_N-AcTrfase pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase - no_errors NAT2 HGNC ENSG00000156006 64 0 0 22 19 46.3415 ATP6V1B2 0 genome.wustl.edu 37 8 20072357 20072357 + Missense_Mutation SNP G G C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 8 20072357 20072357 G C SNP ATP6V1B2 ENST00000276390 human ensembl 74_37 +1 known missense c.956 p.G319A 1.000 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,superfamily_P-loop_NTPase,tigrfam_ATPase_V1-cplx_bsu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B2 HGNC ENSG00000147416 63 0 0 61 8 11.5942 NEFM 0 genome.wustl.edu 37 8 24771944 24771944 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 8 24771944 24771944 C T SNP NEFM ENST00000221166 human ensembl 74_37 +1 known missense c.638 p.A213V 0.998 pfam_IF,prints_Keratin_I pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 26 0 0 13 9 40.9091 SCARA5 0 genome.wustl.edu 37 8 27779236 27779236 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 8 27779236 27779236 G A SNP SCARA5 ENST00000354914 human ensembl 74_37 -1 known silent c.768 p.S256 0.986 NULL pfam_SRCR,pfam_Collagen,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors SCARA5 HGNC ENSG00000168079 11 0 0 5 3 37.5 KIF13B 0 genome.wustl.edu 37 8 28976394 28976394 + Silent SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 8 28976394 28976394 A G SNP KIF13B ENST00000524189 human ensembl 74_37 -1 known silent c.3651 p.H1217 1.000 pfam_Kinesin-like pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 132 0 0 101 14 12.1739 KAT6A 0 genome.wustl.edu 37 8 41836217 41836217 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 8 41836217 41836217 C T SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.986 p.R329Q 1.000 superfamily_Znf_FYVE_PHD pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 228 0 0 149 56 27.3171 KAT6A 0 genome.wustl.edu 37 8 41839431 41839431 + Nonsense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 8 41839431 41839431 G A SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known nonsense c.751 p.R251* 0.998 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 40 0 0 40 8 16.6667 PLAG1 0 genome.wustl.edu 37 8 57080658 57080658 + Silent SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 8 57080658 57080658 T C SNP PLAG1 ENST00000316981 human ensembl 74_37 -1 known silent c.171 p.T57 1.000 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAG1 HGNC ENSG00000181690 57 0 0 32 11 25.5814 MIR124-2 0 genome.wustl.edu 37 8 65291742 65291742 + RNA SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 8 65291742 65291742 G A SNP MIR124-2 ENST00000385081 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR124-2 HGNC ENSG00000207816 44 0 0 20 14 41.1765 CYP7B1 0 genome.wustl.edu 37 8 65527633 65527633 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 8 65527633 65527633 C A SNP CYP7B1 ENST00000310193 human ensembl 74_37 -1 known missense c.1007 p.G336V 0.986 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP7B1 HGNC ENSG00000172817 86 0 0 67 28 29.4737 SULF1 0 genome.wustl.edu 37 8 70476305 70476305 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 8 70476305 70476305 G A SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known missense c.95 p.G32E 1.000 pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 96 0 0 82 6 6.81818 STAU2 0 genome.wustl.edu 37 8 74515987 74515987 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 8 74515987 74515987 G A SNP STAU2 ENST00000524300 human ensembl 74_37 -1 known missense c.1003 p.P335S 1.000 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors STAU2 HGNC ENSG00000040341 92 0 0 55 18 24.6575 ZFHX4 0 genome.wustl.edu 37 8 77768138 77768138 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 8 77768138 77768138 C A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.8981 p.P2994H 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 20 0 0 12 5 29.4118 DPY19L4 0 genome.wustl.edu 37 8 95751977 95751977 + Nonsense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 8 95751977 95751977 G A SNP DPY19L4 ENST00000414645 human ensembl 74_37 +1 known nonsense c.570 p.W190* 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L4 HGNC ENSG00000156162 263 0 0 179 53 22.8448 C9orf156 0 genome.wustl.edu 37 9 100678467 100678467 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 100678467 100678467 A G SNP C9orf156 ENST00000375119 human ensembl 74_37 -1 known missense c.230 p.L77P 1.000 pfam_UPF0066,superfamily_UPF0066_YaeB,tigrfam_UPF0066 pfam_UPF0066,superfamily_UPF0066_YaeB,tigrfam_UPF0066 - no_errors C9orf156 HGNC ENSG00000136932 46 0 0 28 4 12.5 ANKS6 0 genome.wustl.edu 37 9 101547146 101547146 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 101547146 101547146 C T SNP ANKS6 ENST00000375018 human ensembl 74_37 -1 known missense c.875 p.R292K 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS6 HGNC ENSG00000165138 74 0 0 38 15 28.3019 COL15A1 0 genome.wustl.edu 37 9 101747954 101747954 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 101747954 101747954 G A SNP COL15A1 ENST00000375001 human ensembl 74_37 +1 known missense c.208 p.G70R 0.181 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 43 0 0 41 17 29.3103 ABCA1 0 genome.wustl.edu 37 9 107589231 107589231 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 107589231 107589231 C T SNP ABCA1 ENST00000374736 human ensembl 74_37 -1 known missense c.2335 p.A779T 0.396 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 45 0 0 44 15 25.4237 ACTL7A 0 genome.wustl.edu 37 9 111625036 111625036 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 111625036 111625036 C T SNP ACTL7A ENST00000333999 human ensembl 74_37 +1 known missense c.434 p.T145I 0.750 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL7A HGNC ENSG00000187003 52 0 0 40 20 33.3333 PTPN3 0 genome.wustl.edu 37 9 112207536 112207536 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 112207536 112207536 C T SNP PTPN3 ENST00000374541 human ensembl 74_37 -1 known silent c.450 p.A150 0.755 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN3 HGNC ENSG00000070159 65 0 0 44 14 24.1379 SVEP1 0 genome.wustl.edu 37 9 113245948 113245948 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 113245948 113245948 C A SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.1956 p.W652C 1.000 pfam_Hyalin,pfscan_Hyalin pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 37 0 0 15 14 48.2759 PTGR1 0 genome.wustl.edu 37 9 114345823 114345823 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 114345823 114345823 C T SNP PTGR1 ENST00000309195 human ensembl 74_37 -1 known missense c.424 p.G142R 1.000 superfamily_GroES-like,smart_PKS_ER,tigrfam_B4_12hDH pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER,tigrfam_B4_12hDH - no_errors PTGR1 HGNC ENSG00000106853 177 0 0 158 9 5.38922 ZNF618 0 genome.wustl.edu 37 9 116750765 116750765 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 116750765 116750765 A G SNP ZNF618 ENST00000374126 human ensembl 74_37 +1 known missense c.242 p.K81R 1.000 NULL superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF618 HGNC ENSG00000157657 28 0 0 22 11 33.3333 PAPPA 0 genome.wustl.edu 37 9 119130012 119130012 + Nonsense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 119130012 119130012 G A SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known nonsense c.4584 p.W1528* 1.000 NULL pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 58 0 0 40 13 24.5283 DAB2IP 0 genome.wustl.edu 37 9 124532938 124532938 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 124532938 124532938 G A SNP DAB2IP ENST00000408936 human ensembl 74_37 +1 known silent c.2013 p.P671 0.007 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 44 0 0 31 15 32.6087 ZBTB6 0 genome.wustl.edu 37 9 125673938 125673938 + Silent SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 125673938 125673938 T C SNP ZBTB6 ENST00000373659 human ensembl 74_37 -1 known silent c.414 p.Q138 0.166 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB6 HGNC ENSG00000186130 74 0 0 56 4 6.66667 ENSG00000234921 0 genome.wustl.edu 37 9 126794688 126794688 + RNA SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 126794688 126794688 G A SNP ENSG00000234921 ENST00000429482 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-85O21.5 Clone_based_vega_gene ENSG00000234921 92 0 0 51 28 35.443 TBC1D13 0 genome.wustl.edu 37 9 131568559 131568559 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 131568559 131568559 G A SNP TBC1D13 ENST00000372648 human ensembl 74_37 +1 known missense c.1106 p.G369E 1.000 superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D13 HGNC ENSG00000107021 82 0 0 55 16 22.5352 GFI1B 0 genome.wustl.edu 37 9 135862760 135862760 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 135862760 135862760 G A SNP GFI1B ENST00000339463 human ensembl 74_37 +1 known silent c.192 p.P64 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GFI1B HGNC ENSG00000165702 48 0 0 45 14 23.7288 SARDH 0 genome.wustl.edu 37 9 136597638 136597638 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 136597638 136597638 C A SNP SARDH ENST00000371872 human ensembl 74_37 -1 known missense c.417 p.E139D 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C - no_errors SARDH HGNC ENSG00000123453 224 0 0 155 49 24.0196 RXRA 0 genome.wustl.edu 37 9 137328340 137328340 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 137328340 137328340 G A SNP RXRA ENST00000481739 human ensembl 74_37 +1 known silent c.1269 p.P423 0.003 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_COUP_TF pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Nuc_recep-AF1,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoic_acid_rcpt - no_errors RXRA HGNC ENSG00000186350 91 0 0 72 6 7.69231 CAMSAP1 0 genome.wustl.edu 37 9 138713536 138713536 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 138713536 138713536 C T SNP CAMSAP1 ENST00000409386 human ensembl 74_37 -1 known missense c.3004 p.V1002M 0.010 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 23 0 0 15 11 42.3077 SLC34A3 0 genome.wustl.edu 37 9 140127502 140127502 + Silent SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 140127502 140127502 A G SNP SLC34A3 ENST00000361134 human ensembl 74_37 +1 known silent c.495 p.V165 0.997 pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A3 HGNC ENSG00000198569 46 0 0 24 4 14.2857 CACNA1B 0 genome.wustl.edu 37 9 140773613 140773613 + Splice_Site SNP T T A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 140773613 140773613 T A SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known splice_site c.390+2 e2+2 1.000 - - - no_errors CACNA1B HGNC ENSG00000148408 22 0 0 18 3 14.2857 ENSG00000265194 0 genome.wustl.edu 37 9 21861867 21861867 + RNA SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 21861867 21861867 C A SNP ENSG00000265194 ENST00000581788 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-70L8.4 Clone_based_vega_gene ENSG00000265194 8 0 0 4 4 50 DDX58 0 genome.wustl.edu 37 9 32526164 32526164 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 32526164 32526164 T C SNP DDX58 ENST00000379883 human ensembl 74_37 -1 known missense c.1 p.M1V 0.957 superfamily_DEATH-like_dom pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX58 HGNC ENSG00000107201 34 0 0 22 13 37.1429 DOCK8 0 genome.wustl.edu 37 9 332438 332438 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 332438 332438 C T SNP DOCK8 ENST00000453981 human ensembl 74_37 +1 known missense c.1085 p.A362V 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 67 0 0 51 3 5.55556 PGM5 0 genome.wustl.edu 37 9 70993152 70993152 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 70993152 70993152 C T SNP PGM5 ENST00000396396 human ensembl 74_37 +1 known missense c.299 p.S100L 1.000 pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 39 0 0 56 12 17.6471 AGTPBP1 0 genome.wustl.edu 37 9 88190328 88190328 + Silent SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 88190328 88190328 T C SNP AGTPBP1 ENST00000376109 human ensembl 74_37 -1 known silent c.3441 p.L1147 0.997 NULL pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC ENSG00000135049 136 0 0 58 22 27.5 ROR2 0 genome.wustl.edu 37 9 94493197 94493197 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 94493197 94493197 G A SNP ROR2 ENST00000375708 human ensembl 74_37 -1 known missense c.1178 p.S393L 0.827 pirsf_Tyr_kinase_rcpt_ROR,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR2 HGNC ENSG00000169071 122 0 0 74 36 32.7273 ASPN 0 genome.wustl.edu 37 9 95219673 95219673 + Missense_Mutation SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 95219673 95219673 A G SNP ASPN ENST00000375544 human ensembl 74_37 -1 known missense c.1040 p.I347T 1.000 pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors ASPN HGNC ENSG00000106819 66 0 0 63 13 17.1053 ZNF484 0 genome.wustl.edu 37 9 95609710 95609710 + Silent SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 95609710 95609710 T C SNP ZNF484 ENST00000395506 human ensembl 74_37 -1 known silent c.1365 p.S455 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF484 HGNC ENSG00000127081 63 0 0 42 13 23.6364 SUSD3 0 genome.wustl.edu 37 9 95838255 95838255 + Splice_Site SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 95838255 95838255 G A SNP SUSD3 ENST00000375472 human ensembl 74_37 +1 known splice_site c.277+1 e2+1 0.994 - - - no_errors SUSD3 HGNC ENSG00000157303 49 0 0 47 4 7.84314 PTCH1 0 genome.wustl.edu 37 9 98244469 98244469 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 98244469 98244469 G A SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known missense c.601 p.H201Y 1.000 tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 52 0 0 15 11 42.3077 MT-ND5 0 genome.wustl.edu 37 MT 13970 13970 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 MT 13970 13970 G A SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.1634 p.S545N NULL pfam_NADH_DH_su5_C pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 25 0 0 0 6 100 CSTF2 0 genome.wustl.edu 37 X 100077380 100077380 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 X 100077380 100077380 C T SNP CSTF2 ENST00000415585 human ensembl 74_37 +1 known missense c.278 p.A93V 1.000 pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2 HGNC ENSG00000101811 36 0 0 35 10 22.2222 PLP1 0 genome.wustl.edu 37 X 103041710 103041710 + RNA SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 X 103041710 103041710 C T SNP PLP1 ENST00000465975 human ensembl 74_37 +1 putative rna NULL NULL 0.998 - - - no_errors PLP1 HGNC ENSG00000123560 40 0 0 13 27 67.5 DCAF12L1 0 genome.wustl.edu 37 X 125685490 125685490 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 X 125685490 125685490 C T SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known missense c.1102 p.G368S 0.996 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 33 0 0 22 5 18.5185 IGSF1 0 genome.wustl.edu 37 X 130408768 130408768 + Missense_Mutation SNP G G T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 X 130408768 130408768 G T SNP IGSF1 ENST00000370903 human ensembl 74_37 -1 known missense c.3571 p.P1191T 0.989 smart_Ig_sub,smart_Ig_sub2 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF1 HGNC ENSG00000147255 123 0 0 83 9 9.78261 LDOC1 0 genome.wustl.edu 37 X 140271020 140271020 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 X 140271020 140271020 G A SNP LDOC1 ENST00000370526 human ensembl 74_37 -1 known missense c.187 p.R63W 0.957 NULL NULL - no_errors LDOC1 HGNC ENSG00000182195 32 0 0 7 20 74.0741 CXorf40B 0 genome.wustl.edu 37 X 149101879 149101879 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 X 149101879 149101879 G A SNP CXorf40B ENST00000355203 human ensembl 74_37 -1 known missense c.214 p.L72F 0.009 superfamily_PUA-like_domain superfamily_PUA-like_domain - no_errors CXorf40B HGNC ENSG00000197021 123 0 0 57 42 42.4242 CXorf40B 0 genome.wustl.edu 37 X 149101975 149101975 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 X 149101975 149101975 C T SNP CXorf40B ENST00000355203 human ensembl 74_37 -1 known missense c.118 p.A40T 0.982 superfamily_PUA-like_domain superfamily_PUA-like_domain - no_errors CXorf40B HGNC ENSG00000197021 48 0 0 10 24 70.5882 ZNF185 0 genome.wustl.edu 37 X 152085675 152085675 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 X 152085675 152085675 G A SNP ZNF185 ENST00000370270 human ensembl 74_37 +1 known silent c.225 p.R75 0.237 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZNF185 HGNC ENSG00000147394 43 0 0 35 11 23.913 ASMTL 0 genome.wustl.edu 37 X 1537979 1537979 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 X 1537979 1537979 C T SNP ASMTL ENST00000381317 human ensembl 74_37 -1 known missense c.1274 p.R425Q 0.240 pfam_O_MeTrfase_2 pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf - no_errors ASMTL HGNC ENSG00000169093 19 0 0 13 2 13.3333 CTAG2 0 genome.wustl.edu 37 X 153881608 153881608 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 X 153881608 153881608 G A SNP CTAG2 ENST00000369585 human ensembl 74_37 -1 known missense c.182 p.P61L 0.000 NULL pfam_EKC/KEOPS_Pcc1 - no_errors CTAG2 HGNC ENSG00000126890 10 0 0 2 5 71.4286 BRCC3 0 genome.wustl.edu 37 X 154305518 154305518 + Missense_Mutation SNP T T C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 X 154305518 154305518 T C SNP BRCC3 ENST00000399042 human ensembl 74_37 +1 known missense c.269 p.V90A 1.000 pfam_JAB_MPN_dom,smart_JAB_MPN_dom pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors BRCC3 HGNC ENSG00000185515 54 0 0 19 26 57.7778 P2RY8 0 genome.wustl.edu 37 X 1584882 1584882 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 X 1584882 1584882 C A SNP P2RY8 ENST00000381297 human ensembl 74_37 -1 known missense c.570 p.W190C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors P2RY8 HGNC ENSG00000182162 62 0 0 52 4 7.14286 PCYT1B 0 genome.wustl.edu 37 X 24608251 24608251 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 X 24608251 24608251 G A SNP PCYT1B ENST00000379144 human ensembl 74_37 -1 known silent c.375 p.T125 0.004 pfam_Cyt_trans-like,tigrfam_Cyt_trans-like pfam_Cyt_trans-like,tigrfam_Cyt_trans-like - no_errors PCYT1B HGNC ENSG00000102230 33 0 0 7 22 75.8621 FAM47B 0 genome.wustl.edu 37 X 34962029 34962029 + Missense_Mutation SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 X 34962029 34962029 C T SNP FAM47B ENST00000329357 human ensembl 74_37 +1 known missense c.1081 p.R361W 0.001 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 27 0 0 11 13 54.1667 DDX3X 0 genome.wustl.edu 37 X 41201759 41201759 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 X 41201759 41201759 G A SNP DDX3X ENST00000399959 human ensembl 74_37 +1 known missense c.296 p.R99H 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX3X HGNC ENSG00000215301 45 0 0 43 3 6.52174 AR 0 genome.wustl.edu 37 X 66765081 66765081 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 X 66765081 66765081 C T SNP AR ENST00000374690 human ensembl 74_37 +1 known silent c.93 p.R31 1.000 pfam_Andrgn_rcpt,prints_Andrgn_rcpt pfam_Andrgn_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_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 30 0 0 9 18 66.6667 MED12 0 genome.wustl.edu 37 X 70360635 70360635 + Silent SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 X 70360635 70360635 G A SNP MED12 ENST00000333646 human ensembl 74_37 +1 known silent c.6204 p.Q2068 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 18 0 0 23 3 11.5385 MED12 0 genome.wustl.edu 37 X 70360647 70360647 + Silent SNP A A G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 X 70360647 70360647 A G SNP MED12 ENST00000333646 human ensembl 74_37 +1 known silent c.6216 p.Q2072 0.341 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 17 0 0 21 3 12.5 RPS6KA6 0 genome.wustl.edu 37 X 83403075 83403075 + Missense_Mutation SNP C C A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 X 83403075 83403075 C A SNP RPS6KA6 ENST00000262752 human ensembl 74_37 -1 known missense c.315 p.K105N 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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA6 HGNC ENSG00000072133 23 0 0 5 8 61.5385 PCDH11X 0 genome.wustl.edu 37 X 91133952 91133952 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 X 91133952 91133952 C T SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known silent c.2713 p.L905 0.984 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 71 0 0 64 5 7.24638 PCDH11X 0 genome.wustl.edu 37 X 91873424 91873424 + Silent SNP C C T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 X 91873424 91873424 C T SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known silent c.3529 p.L1177 0.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 74 0 0 40 34 45.9459 USP9Y 0 genome.wustl.edu 37 Y 14951943 14951943 + Missense_Mutation SNP G G A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 Y 14951943 14951943 G A SNP USP9Y ENST00000338981 human ensembl 74_37 +1 known missense c.5491 p.V1831I 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,superfamily_Glycoside_hydrolase_SF,pfscan_Peptidase_C19/C67 - no_errors USP9Y HGNC ENSG00000114374 65 0 0 15 37 71.1538 ENSG00000269175 0 genome.wustl.edu 37 1 101456192 101456193 + Frame_Shift_Ins INS - - A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 101456192 101456193 - A INS ENSG00000269175 ENST00000593496 human ensembl 74_37 +1 known frame_shift_ins c.186_187 p.R65fs 0.576:0.002 NULL NULL - no_errors AC093157.1 Clone_based_ensembl_gene ENSG00000269175 30 0 0 25 3 10.7143 GPR61 0 genome.wustl.edu 37 1 110086456 110086456 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 110086456 110086456 C - DEL GPR61 ENST00000404129 human ensembl 74_37 +1 known frame_shift_del c.812 p.Q273fs 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR61 HGNC ENSG00000156097 66 0 0 53 14 20.8955 OVGP1 0 genome.wustl.edu 37 1 111959067 111959068 + Frame_Shift_Ins INS - - T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 111959067 111959068 - T INS OVGP1 ENST00000369732 human ensembl 74_37 -1 known frame_shift_ins c.1034_1033 p.R345fs 0.069:0.157 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors OVGP1 HGNC ENSG00000085465 141 0 0 127 29 18.5897 PHTF1 0 genome.wustl.edu 37 1 114280758 114280761 + Frame_Shift_Del DEL CAAA CAAA - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 CAAA CAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 114280758 114280761 CAAA - DEL PHTF1 ENST00000369604 human ensembl 74_37 -1 known frame_shift_del c.305_302 p.V101fs 1.000:1.000:0.996:1.000 pfam_TF_homeodomain_male pfam_TF_homeodomain_male - no_errors PHTF1 HGNC ENSG00000116793 56 0 0 33 6 15.3846 SPAG17 0 genome.wustl.edu 37 1 118514590 118514590 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 118514590 118514590 A - DEL SPAG17 ENST00000336338 human ensembl 74_37 -1 known frame_shift_del c.6222 p.F2074fs 0.223 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 80 0 0 48 14 22.5806 AADACL3 0 genome.wustl.edu 37 1 12785494 12785494 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 12785494 12785494 G - DEL AADACL3 ENST00000359318 human ensembl 74_37 +1 known frame_shift_del c.584 p.C195fs 0.040 NULL pfam_AB_hydrolase_3 - no_errors AADACL3 HGNC ENSG00000188984 217 0 0 146 30 17.0455 SEMA6C 0 genome.wustl.edu 37 1 151110223 151110225 + In_Frame_Del DEL GAA GAA - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 151110223 151110225 GAA - DEL SEMA6C ENST00000368913 human ensembl 74_37 -1 known in_frame_del c.720_718 p.F240in_frame_del 1.000:1.000:1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom - no_errors SEMA6C HGNC ENSG00000143434 148 0 0 113 14 11.0236 TDRD10 0 genome.wustl.edu 37 1 154493908 154493908 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 154493908 154493908 C - DEL TDRD10 ENST00000368480 human ensembl 74_37 +1 known frame_shift_del c.322 p.K110fs 0.000 NULL pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TDRD10 HGNC ENSG00000163239 287 1 0.347222 215 41 16.0156 KCNN3 0 genome.wustl.edu 37 1 154842106 154842106 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 154842106 154842106 G - DEL KCNN3 ENST00000271915 human ensembl 74_37 -1 novel frame_shift_del c.335 p.P112fs 0.918 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 44 0 0 16 6 27.2727 LAMTOR2 0 genome.wustl.edu 37 1 156028246 156028246 + RNA DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 156028246 156028246 G - DEL LAMTOR2 ENST00000463371 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LAMTOR2 HGNC ENSG00000116586 10 0 0 8 6 42.8571 LOC100131825 0 genome.wustl.edu 37 1 159166613 159166613 + RNA DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 159166613 159166613 T - DEL LOC100131825 ENST00000415675 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTA-134P22.2 Clone_based_vega_gene ENSG00000225670 22 0 0 8 3 27.2727 KCNJ10 0 genome.wustl.edu 37 1 160012018 160012018 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 160012018 160012018 G - DEL KCNJ10 ENST00000368089 human ensembl 74_37 -1 known frame_shift_del c.305 p.P102fs 0.995 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir 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_Kir1.2,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ10 HGNC ENSG00000177807 94 0 0 87 5 5.43478 PLEKHM2 0 genome.wustl.edu 37 1 16011068 16011070 + In_Frame_Del DEL GGT GGT - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 GGT GGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 16011068 16011070 GGT - DEL PLEKHM2 ENST00000375799 human ensembl 74_37 +1 known in_frame_del c.15_17 p.V6in_frame_del 1.000:1.000:1.000 NULL pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run - no_errors PLEKHM2 HGNC ENSG00000116786 26 0 0 15 3 16.6667 ARHGAP30 0 genome.wustl.edu 37 1 161021106 161021106 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 161021106 161021106 G - DEL ARHGAP30 ENST00000368013 human ensembl 74_37 -1 known frame_shift_del c.1418 p.P473fs 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 41 0 0 48 8 14.2857 DEDD 0 genome.wustl.edu 37 1 161091815 161091817 + RNA DEL AAA AAA - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 161091815 161091817 AAA - DEL DEDD ENST00000486041 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000:1.000 - - - no_errors DEDD HGNC ENSG00000158796 18 0 0 6 6 50 DDX59 0 genome.wustl.edu 37 1 200594042 200594042 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 200594042 200594042 T - DEL DDX59 ENST00000447706 human ensembl 74_37 -1 known frame_shift_del c.1730 p.N577fs 0.001 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Znf_HIT,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX59 HGNC ENSG00000118197 57 0 0 48 6 11.1111 USP48 0 genome.wustl.edu 37 1 22033386 22033387 + Frame_Shift_Del DEL AA AA - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 22033386 22033387 AA - DEL USP48 ENST00000529637 human ensembl 74_37 -1 novel frame_shift_del c.1975_1974 p.S659fs 0.000:0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 29 0 0 15 4 21.0526 TCEB3 0 genome.wustl.edu 37 1 24078404 24078404 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 24078404 24078404 A - DEL TCEB3 ENST00000418390 human ensembl 74_37 +1 known frame_shift_del c.1387 p.N465fs 0.998 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom - no_errors TCEB3 HGNC ENSG00000011007 116 1 0.854701 74 27 26.7327 OR14C36 0 genome.wustl.edu 37 1 248512384 248512384 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 248512384 248512384 T - DEL OR14C36 ENST00000317861 human ensembl 74_37 +1 known frame_shift_del c.308 p.F105fs 0.004 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 OR14C36 HGNC ENSG00000177174 34 0 0 28 5 15.1515 WDTC1 0 genome.wustl.edu 37 1 27621108 27621108 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 27621108 27621108 G - DEL WDTC1 ENST00000319394 human ensembl 74_37 +1 known frame_shift_del c.861 p.E290fs 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 57 0 0 45 11 19.6429 RAB42 0 genome.wustl.edu 37 1 28920547 28920547 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 28920547 28920547 G - DEL RAB42 ENST00000373826 human ensembl 74_37 +1 known frame_shift_del c.236 p.G81fs 1.000 superfamily_P-loop_NTPase pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RAB42 HGNC ENSG00000188060 54 0 0 42 11 20.7547 ENSG00000271554 0 genome.wustl.edu 37 1 36475027 36475027 + RNA DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 36475027 36475027 A - DEL ENSG00000271554 ENST00000479395 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors RP4-665N4.8 Clone_based_vega_gene ENSG00000271554 21 0 0 23 6 20.6897 SMAP2 0 genome.wustl.edu 37 1 40878733 40878734 + Frame_Shift_Ins INS - - A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 40878733 40878734 - A INS SMAP2 ENST00000372718 human ensembl 74_37 +1 known frame_shift_ins c.448_449 p.L153fs 1.000:1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP2 HGNC ENSG00000084070 60 0 0 36 12 25 CLDN19 0 genome.wustl.edu 37 1 43200768 43200768 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 43200768 43200768 G - DEL CLDN19 ENST00000296387 human ensembl 74_37 -1 known frame_shift_del c.664 p.L222fs 1.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN19 HGNC ENSG00000164007 46 0 0 30 7 18.9189 TESK2 0 genome.wustl.edu 37 1 45812430 45812432 + In_Frame_Del DEL CAT CAT - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 CAT CAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 45812430 45812432 CAT - DEL TESK2 ENST00000372086 human ensembl 74_37 -1 known in_frame_del c.814_812 p.D271in_frame_del 1.000:0.999:1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TESK2 HGNC ENSG00000070759 42 0 0 34 9 20.9302 CYP4X1 0 genome.wustl.edu 37 1 47489498 47489500 + In_Frame_Del DEL CTC CTC - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 47489498 47489500 CTC - DEL CYP4X1 ENST00000371901 human ensembl 74_37 +1 known in_frame_del c.9_11 p.S4in_frame_del 0.054:0.964:0.988 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4X1 HGNC ENSG00000186377 66 0 0 44 9 16.9811 DOCK7 0 genome.wustl.edu 37 1 62941104 62941105 + RNA DEL AA AA - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 62941104 62941105 AA - DEL DOCK7 ENST00000467758 human ensembl 74_37 -1 known rna NULL NULL 0.057:0.079 - - - no_errors DOCK7 HGNC ENSG00000116641 15 0 0 4 3 42.8571 ENSG00000252404 0 genome.wustl.edu 37 1 9142938 9142940 + RNA DEL ACA ACA - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 ACA ACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 1 9142938 9142940 ACA - DEL ENSG00000252404 ENST00000516595 human ensembl 74_37 +1 novel rna NULL NULL 0.023:0.021:0.026 - - - no_errors SCARNA16 RFAM ENSG00000252404 22 0 0 10 2 16.6667 NOLC1 0 genome.wustl.edu 37 10 103919299 103919299 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 103919299 103919299 A - DEL NOLC1 ENST00000405356 human ensembl 74_37 +1 known frame_shift_del c.863 p.K290fs 0.998 NULL pfam_SRP40_C,pfscan_LisH_dimerisation - no_errors NOLC1 HGNC ENSG00000166197 50 0 0 33 5 13.1579 PSD 0 genome.wustl.edu 37 10 104176197 104176197 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 104176197 104176197 G - DEL PSD ENST00000020673 human ensembl 74_37 -1 known frame_shift_del c.599 p.P200fs 0.881 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 24 0 0 10 2 16.6667 OAT 0 genome.wustl.edu 37 10 126091634 126091634 + RNA DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 126091634 126091634 A - DEL OAT ENST00000471127 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors OAT HGNC ENSG00000065154 171 1 0.581395 63 21 25 FAM196A 0 genome.wustl.edu 37 10 128974289 128974289 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 128974289 128974289 T - DEL FAM196A ENST00000522781 human ensembl 74_37 -1 known frame_shift_del c.371 p.K124fs 0.991 NULL NULL - no_errors FAM196A HGNC ENSG00000188916 57 0 0 30 8 21.0526 ENSG00000235939 0 genome.wustl.edu 37 10 50680934 50680934 + RNA DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 50680934 50680934 A - DEL ENSG00000235939 ENST00000423283 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-123B3.2 Clone_based_vega_gene ENSG00000235939 28 0 0 16 7 30.4348 NCOA4 0 genome.wustl.edu 37 10 51581288 51581289 + Frame_Shift_Ins INS - - A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 51581288 51581289 - A INS NCOA4 ENST00000452682 human ensembl 74_37 +1 known frame_shift_ins c.438_439 p.P147fs 0.986:1.000 pfam_ARA70 pfam_ARA70 - no_errors NCOA4 HGNC ENSG00000138293 121 0 0 76 22 22.449 DDX50 0 genome.wustl.edu 37 10 70673882 70673882 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 70673882 70673882 A - DEL DDX50 ENST00000373585 human ensembl 74_37 +1 known frame_shift_del c.1011 p.K339fs 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,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 - no_errors DDX50 HGNC ENSG00000107625 51 0 0 29 15 34.0909 KIAA1279 0 genome.wustl.edu 37 10 70775814 70775815 + Frame_Shift_Ins INS - - A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 70775814 70775815 - A INS KIAA1279 ENST00000361983 human ensembl 74_37 +1 known frame_shift_ins c.1508_1509 p.I506fs 0.805:0.024 pfam_KBP pfam_KBP - no_errors KIAA1279 HGNC ENSG00000198954 41 0 0 42 10 19.2308 C10orf54 0 genome.wustl.edu 37 10 73511467 73511467 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 73511467 73511467 G - DEL C10orf54 ENST00000394957 human ensembl 74_37 -1 known frame_shift_del c.856 p.L286fs 0.979 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors C10orf54 HGNC ENSG00000107738 42 0 0 25 8 24.2424 ZSWIM8 0 genome.wustl.edu 37 10 75560546 75560546 + RNA DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 75560546 75560546 C - DEL ZSWIM8 ENST00000603195 human ensembl 74_37 +1 known rna NULL NULL 0.749 - - - no_errors ZSWIM8 HGNC ENSG00000214655 26 0 0 19 5 20.8333 ATP5C1 0 genome.wustl.edu 37 10 7849654 7849654 + RNA DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 7849654 7849654 T - DEL ATP5C1 ENST00000465936 human ensembl 74_37 +1 known rna NULL NULL 0.586 - - - no_errors ATP5C1 HGNC ENSG00000165629 117 0 0 60 14 18.9189 IDE 0 genome.wustl.edu 37 10 94243044 94243045 + Frame_Shift_Ins INS - - A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 94243044 94243045 - A INS IDE ENST00000265986 human ensembl 74_37 -1 known frame_shift_ins c.1707_1706 p.L569fs 1.000:1.000 superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors IDE HGNC ENSG00000119912 50 0 0 16 3 15.7895 ZNF518A 0 genome.wustl.edu 37 10 97918856 97918856 + RNA DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 10 97918856 97918856 A - DEL ZNF518A ENST00000316045 human ensembl 74_37 +1 known rna NULL NULL 0.867 - - - no_errors ZNF518A HGNC ENSG00000177853 30 0 0 10 9 47.3684 REXO2 0 genome.wustl.edu 37 11 114320750 114320750 + RNA DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 114320750 114320750 T - DEL REXO2 ENST00000544507 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors REXO2 HGNC ENSG00000076043 74 0 0 48 13 21.3115 HYOU1 0 genome.wustl.edu 37 11 118918525 118918526 + Frame_Shift_Ins INS - - C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 118918525 118918526 - C INS HYOU1 ENST00000404233 human ensembl 74_37 -1 known frame_shift_ins c.2516_2515 p.A839fs 1.000:1.000 NULL pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC ENSG00000149428 77 0 0 46 14 23.3333 DPAGT1 0 genome.wustl.edu 37 11 118969143 118969143 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 118969143 118969143 A - DEL DPAGT1 ENST00000354202 human ensembl 74_37 -1 known frame_shift_del c.698 p.F233fs 1.000 pfam_Glycosyl_transferase_4 pfam_Glycosyl_transferase_4 - no_errors DPAGT1 HGNC ENSG00000172269 108 0 0 122 29 19.2053 VWA5A 0 genome.wustl.edu 37 11 124005694 124005694 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 124005694 124005694 G - DEL VWA5A ENST00000392748 human ensembl 74_37 +1 known frame_shift_del c.1312 p.G439fs 0.871 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors VWA5A HGNC ENSG00000110002 100 0 0 75 15 16.6667 CCDC15 0 genome.wustl.edu 37 11 124845049 124845049 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 124845049 124845049 A - DEL CCDC15 ENST00000344762 human ensembl 74_37 +1 known frame_shift_del c.574 p.K194fs 0.000 NULL NULL - no_errors CCDC15 HGNC ENSG00000149548 28 0 0 28 6 17.6471 PAX6 0 genome.wustl.edu 37 11 31812317 31812317 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 31812317 31812317 G - DEL PAX6 ENST00000379107 human ensembl 74_37 -1 known frame_shift_del c.1166 p.P389fs 1.000 NULL pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX6 HGNC ENSG00000007372 77 0 0 66 15 18.5185 APIP 0 genome.wustl.edu 37 11 34910341 34910341 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 34910341 34910341 T - DEL APIP ENST00000278359 human ensembl 74_37 -1 known frame_shift_del c.334 p.S112fs 1.000 pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N,tigrfam_MethylthioRu-1-P_deHdtase_MtnB pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N,tigrfam_MethylthioRu-1-P_deHdtase_MtnB - no_errors APIP HGNC ENSG00000149089 79 0 0 47 7 12.963 OR51E2 0 genome.wustl.edu 37 11 4703475 4703475 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 4703475 4703475 A - DEL OR51E2 ENST00000396950 human ensembl 74_37 -1 known frame_shift_del c.467 p.F156fs 0.027 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51E2 HGNC ENSG00000167332 71 0 0 74 8 9.7561 TRIM51 0 genome.wustl.edu 37 11 55653610 55653610 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 55653610 55653610 A - DEL TRIM51 ENST00000449290 human ensembl 74_37 +1 known frame_shift_del c.423 p.M144fs 0.001 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 47 0 0 19 8 29.6296 OR5B21 0 genome.wustl.edu 37 11 58275490 58275490 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 58275490 58275490 A - DEL OR5B21 ENST00000360374 human ensembl 74_37 -1 known frame_shift_del c.89 p.L30fs 0.001 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5B21 HGNC ENSG00000198283 163 0 0 120 30 20 PITPNM1 0 genome.wustl.edu 37 11 67267649 67267649 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 67267649 67267649 G - DEL PITPNM1 ENST00000356404 human ensembl 74_37 -1 known frame_shift_del c.884 p.P295fs 0.012 NULL pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 67 0 0 49 12 19.6721 OR2D3 0 genome.wustl.edu 37 11 6942990 6942991 + Frame_Shift_Ins INS - - T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 6942990 6942991 - T INS OR2D3 ENST00000317834 human ensembl 74_37 +1 known frame_shift_ins c.758_759 p.S255fs 0.465:0.013 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2D3 HGNC ENSG00000178358 54 0 0 24 11 31.4286 KRTAP5-8 0 genome.wustl.edu 37 11 71249165 71249165 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 71249165 71249165 G - DEL KRTAP5-8 ENST00000398534 human ensembl 74_37 +1 known frame_shift_del c.64 p.G23fs 0.980 NULL NULL - no_errors KRTAP5-8 HGNC ENSG00000241233 186 0 0 156 17 9.82659 SYTL2 0 genome.wustl.edu 37 11 85435356 85435356 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 85435356 85435356 G - DEL SYTL2 ENST00000359152 human ensembl 74_37 -1 known frame_shift_del c.3716 p.P1239fs 0.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYTL2 HGNC ENSG00000137501 103 1 0.961538 91 7 7.14286 HEPHL1 0 genome.wustl.edu 37 11 93754625 93754626 + Frame_Shift_Ins INS - - T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 11 93754625 93754626 - T INS HEPHL1 ENST00000315765 human ensembl 74_37 +1 known frame_shift_ins c.91_92 p.G32fs 0.997:0.999 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPHL1 HGNC ENSG00000181333 156 0 0 125 25 16.6667 ACACB 0 genome.wustl.edu 37 12 109671600 109671600 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 109671600 109671600 C - DEL ACACB ENST00000338432 human ensembl 74_37 +1 known frame_shift_del c.4187 p.L1398fs 0.001 pfam_AcCoA_COase_cen pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 152 0 0 108 7 6.08696 RNF10 0 genome.wustl.edu 37 12 121014514 121014514 + RNA DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 121014514 121014514 T - DEL RNF10 ENST00000535470 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors RNF10 HGNC ENSG00000022840 103 0 0 71 21 22.8261 ULK1 0 genome.wustl.edu 37 12 132401026 132401027 + Frame_Shift_Ins INS - - C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 132401026 132401027 - C INS ULK1 ENST00000321867 human ensembl 74_37 +1 known frame_shift_ins c.1962_1963 p.R656fs 0.001:0.993 pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ENSG00000177169 94 0 0 71 9 11.25 DCP1B 0 genome.wustl.edu 37 12 2062122 2062122 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 2062122 2062122 A - DEL DCP1B ENST00000280665 human ensembl 74_37 -1 known frame_shift_del c.984 p.F328fs 0.000 NULL pfam_DCP1 - no_errors DCP1B HGNC ENSG00000151065 77 0 0 62 22 26.1905 ST8SIA1 0 genome.wustl.edu 37 12 22486986 22486986 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 22486986 22486986 C - DEL ST8SIA1 ENST00000396037 human ensembl 74_37 -1 known frame_shift_del c.181 p.V61fs 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA1 HGNC ENSG00000111728 117 0 0 108 29 21.1679 ABCD2 0 genome.wustl.edu 37 12 39997743 39997745 + In_Frame_Del DEL CTC CTC - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 39997743 39997745 CTC - DEL ABCD2 ENST00000308666 human ensembl 74_37 -1 known in_frame_del c.1471_1469 p.G490in_frame_del 1.000:1.000:1.000 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCD2 HGNC ENSG00000173208 153 0 0 61 23 27.381 LRP1 0 genome.wustl.edu 37 12 57572242 57572242 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 57572242 57572242 G - DEL LRP1 ENST00000243077 human ensembl 74_37 +1 known frame_shift_del c.4462 p.E1490fs 1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 126 0 0 116 33 22.1477 XPOT 0 genome.wustl.edu 37 12 64812755 64812755 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 64812755 64812755 T - DEL XPOT ENST00000332707 human ensembl 74_37 +1 known frame_shift_del c.370 p.F126fs 1.000 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 103 1 0.961538 41 27 39.7059 GPR162 0 genome.wustl.edu 37 12 6936082 6936082 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 6936082 6936082 C - DEL GPR162 ENST00000311268 human ensembl 74_37 +1 known frame_shift_del c.1480 p.P495fs 0.999 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR162,prints_GCR_153/162 - no_errors GPR162 HGNC ENSG00000250510 139 0 0 70 26 27.0833 VEZT 0 genome.wustl.edu 37 12 95650969 95650969 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 95650969 95650969 T - DEL VEZT ENST00000436874 human ensembl 74_37 +1 known frame_shift_del c.212 p.S74fs 0.065 NULL NULL - no_errors VEZT HGNC ENSG00000028203 21 0 0 23 6 20.6897 TMPO 0 genome.wustl.edu 37 12 98941485 98941486 + Frame_Shift_Ins INS - - A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 12 98941485 98941486 - A INS TMPO ENST00000556029 human ensembl 74_37 +1 known frame_shift_ins c.1214_1215 p.G409fs 0.990:0.976 NULL pfam_LEM-like_dom,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom,pfscan_LEM-like_dom - no_errors TMPO HGNC ENSG00000120802 60 0 0 51 6 10.5263 CLYBL 0 genome.wustl.edu 37 13 100543659 100543660 + Frame_Shift_Ins INS - - A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 13 100543659 100543660 - A INS CLYBL ENST00000339105 human ensembl 74_37 +1 known frame_shift_ins c.1015_1016 p.*341fs 1.000:1.000 NULL pfam_Aldehyde-lyase_domain,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,pirsf_Citrate_lyase_beta - no_errors CLYBL HGNC ENSG00000125246 78 0 0 47 19 28.7879 COL4A2 0 genome.wustl.edu 37 13 111114439 111114439 + RNA DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 13 111114439 111114439 T - DEL COL4A2 ENST00000478681 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors COL4A2 HGNC ENSG00000134871 29 0 0 29 11 27.5 PSPC1 0 genome.wustl.edu 37 13 20277345 20277346 + Frame_Shift_Del DEL AA AA - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 13 20277345 20277346 AA - DEL PSPC1 ENST00000338910 human ensembl 74_37 -1 known frame_shift_del c.1542_1541 p.F514fs 1.000:1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors PSPC1 HGNC ENSG00000121390 161 0 0 104 17 14.0496 KLF5 0 genome.wustl.edu 37 13 73636730 73636730 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 13 73636730 73636730 A - DEL KLF5 ENST00000377687 human ensembl 74_37 +1 known frame_shift_del c.993 p.I332fs 0.238 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF5 HGNC ENSG00000102554 200 0 0 127 48 27.4286 PCK2 0 genome.wustl.edu 37 14 24567477 24567479 + In_Frame_Del DEL CTT CTT - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 14 24567477 24567479 CTT - DEL PCK2 ENST00000216780 human ensembl 74_37 +1 known in_frame_del c.341_343 p.S115in_frame_del 0.997:1.000:1.000 pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP - no_errors PCK2 HGNC ENSG00000100889 53 0 0 55 22 28.5714 DAAM1 0 genome.wustl.edu 37 14 59835592 59835592 + RNA DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 14 59835592 59835592 T - DEL DAAM1 ENST00000553966 human ensembl 74_37 +1 known rna NULL NULL 0.059 - - - no_errors DAAM1 HGNC ENSG00000100592 19 0 0 21 4 16 RBM25 0 genome.wustl.edu 37 14 73572607 73572608 + Frame_Shift_Del DEL AG AG - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 14 73572607 73572608 AG - DEL RBM25 ENST00000261973 human ensembl 74_37 +1 known frame_shift_del c.1195_1196 p.E402fs 0.998:1.000 NULL pfam_PWI_dom,pfam_RRM_dom,superfamily_PWI_dom,smart_RRM_dom,smart_PWI_dom,pfscan_RRM_dom - no_errors RBM25 HGNC ENSG00000119707 18 0 0 6 2 25 LTBP2 0 genome.wustl.edu 37 14 75016599 75016599 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 14 75016599 75016599 C - DEL LTBP2 ENST00000261978 human ensembl 74_37 -1 known frame_shift_del c.1756 p.V586fs 0.339 pfam_TB_dom,superfamily_TB_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 177 0 0 157 28 15.1351 OCA2 0 genome.wustl.edu 37 15 28200305 28200305 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 15 28200305 28200305 T - DEL OCA2 ENST00000354638 human ensembl 74_37 -1 known frame_shift_del c.1841 p.K614fs 1.000 pfam_Cit_transptr-like_dom,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 139 1 0.714286 96 7 6.79612 TJP1 0 genome.wustl.edu 37 15 30065503 30065504 + Frame_Shift_Ins INS - - A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 15 30065503 30065504 - A INS TJP1 ENST00000346128 human ensembl 74_37 -1 known frame_shift_ins c.142_141 p.Q47fs 1.000:1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 131 0 0 102 20 16.3934 PLA2G4E 0 genome.wustl.edu 37 15 42302330 42302331 + Frame_Shift_Ins INS - - C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 15 42302330 42302331 - C INS PLA2G4E ENST00000413860 human ensembl 74_37 -1 known frame_shift_ins c.116_115 p.A39fs 0.000:0.000 pfscan_C2_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4E HGNC ENSG00000188089 88 0 0 59 13 18.0556 TRPM7 0 genome.wustl.edu 37 15 50931657 50931658 + Frame_Shift_Ins INS - - C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 15 50931657 50931658 - C INS TRPM7 ENST00000313478 human ensembl 74_37 -1 known frame_shift_ins c.624_623 p.V209fs 1.000:1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM7 HGNC ENSG00000092439 112 0 0 66 29 30.5263 SCAPER 0 genome.wustl.edu 37 15 77064150 77064150 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 15 77064150 77064150 T - DEL SCAPER ENST00000324767 human ensembl 74_37 -1 known frame_shift_del c.1181 p.N394fs 0.000 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 168 0 0 122 25 17.0068 C15orf40 0 genome.wustl.edu 37 15 83674353 83674354 + Frame_Shift_Ins INS - - T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 15 83674353 83674354 - T INS C15orf40 ENST00000513601 human ensembl 74_37 -1 known frame_shift_ins c.458_457 p.T153fs 0.010:0.000 NULL pfam_DUF167,superfamily_DUF167 - no_errors C15orf40 HGNC ENSG00000169609 93 0 0 58 20 25.641 AKAP13 0 genome.wustl.edu 37 15 86278855 86278855 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 15 86278855 86278855 A - DEL AKAP13 ENST00000361243 human ensembl 74_37 +1 known frame_shift_del c.7518 p.K2508fs 0.998 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 77 0 0 47 18 27.6923 SLCO3A1 0 genome.wustl.edu 37 15 92706441 92706441 + RNA DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 15 92706441 92706441 A - DEL SLCO3A1 ENST00000555549 human ensembl 74_37 +1 known rna NULL NULL 0.813 - - - no_errors SLCO3A1 HGNC ENSG00000176463 24 0 0 13 8 38.0952 ZC3H7A 0 genome.wustl.edu 37 16 11846657 11846657 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 11846657 11846657 T - DEL ZC3H7A ENST00000355758 human ensembl 74_37 -1 known frame_shift_del c.2594 p.N865fs 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H7A HGNC ENSG00000122299 129 0 0 88 23 20.7207 SNX29 0 genome.wustl.edu 37 16 12492337 12492338 + Frame_Shift_Del DEL AG AG - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 12492337 12492338 AG - DEL SNX29 ENST00000306030 human ensembl 74_37 +1 known frame_shift_del c.779_780 p.S261fs 1.000:1.000 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX29 HGNC ENSG00000048471 154 0 0 86 23 21.1009 NOMO1 0 genome.wustl.edu 37 16 14989451 14989451 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 14989451 14989451 C - DEL NOMO1 ENST00000287667 human ensembl 74_37 +1 known frame_shift_del c.3618 p.P1207fs 0.998 NULL pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO1 HGNC ENSG00000103512 686 0 0 610 73 10.6881 TMC5 0 genome.wustl.edu 37 16 19455473 19455474 + Frame_Shift_Ins INS - - G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 19455473 19455474 - G INS TMC5 ENST00000396229 human ensembl 74_37 +1 known frame_shift_ins c.859_860 p.E289fs 0.000:0.000 NULL pfam_TMC - no_errors TMC5 HGNC ENSG00000103534 123 0 0 109 28 20.438 ENSG00000261312 0 genome.wustl.edu 37 16 19718153 19718153 + RNA DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 19718153 19718153 A - DEL ENSG00000261312 ENST00000565916 human ensembl 74_37 +1 known rna NULL NULL 0.126 - - - no_errors AC002550.5 Clone_based_vega_gene ENSG00000261312 83 0 0 63 16 20.2532 SNORA64 0 genome.wustl.edu 37 16 2013100 2013101 + RNA DEL GA GA - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 2013100 2013101 GA - DEL SNORA64 ENST00000384674 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.000 - - - no_errors SNORA64 HGNC ENSG00000207405 34 0 0 20 7 25.9259 IL21R 0 genome.wustl.edu 37 16 27460530 27460530 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 27460530 27460530 C - DEL IL21R ENST00000337929 human ensembl 74_37 +1 known frame_shift_del c.1543 p.R517fs 0.552 NULL superfamily_Fibronectin_type3 - no_errors IL21R HGNC ENSG00000103522 91 0 0 73 13 15.1163 GTF3C1 0 genome.wustl.edu 37 16 27489822 27489822 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 27489822 27489822 T - DEL GTF3C1 ENST00000356183 human ensembl 74_37 -1 known frame_shift_del c.4227 p.D1410fs 0.975 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 121 0 0 96 7 6.79612 ATXN2L 0 genome.wustl.edu 37 16 28847356 28847356 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 28847356 28847356 C - DEL ATXN2L ENST00000395547 human ensembl 74_37 +1 known frame_shift_del c.2998 p.Q1002fs 0.998 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 99 0 0 87 23 20.9091 MAZ 0 genome.wustl.edu 37 16 29818054 29818054 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 29818054 29818054 C - DEL MAZ ENST00000219782 human ensembl 74_37 +1 known frame_shift_del c.32 p.F14fs 0.006 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MAZ HGNC ENSG00000103495 28 0 0 23 5 17.8571 GLYR1 0 genome.wustl.edu 37 16 4862228 4862229 + Frame_Shift_Ins INS - - C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 4862228 4862229 - C INS GLYR1 ENST00000321919 human ensembl 74_37 -1 known frame_shift_ins c.1141_1140 p.R380fs 0.990:0.170 pfam_6PGDH_NADP-bd pfam_6PGDH_NADP-bd,pfam_PWWP_dom,superfamily_6-PGluconate_DH_C-like,smart_PWWP_dom,pfscan_PWWP_dom - no_errors GLYR1 HGNC ENSG00000140632 56 0 0 32 6 15.7895 CHTF18 0 genome.wustl.edu 37 16 842546 842546 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 842546 842546 G - DEL CHTF18 ENST00000317063 human ensembl 74_37 +1 known frame_shift_del c.2019 p.L676fs 0.441 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors CHTF18 HGNC ENSG00000127586 35 0 0 28 6 17.6471 ZC3H18 0 genome.wustl.edu 37 16 88691141 88691141 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 16 88691141 88691141 C - DEL ZC3H18 ENST00000301011 human ensembl 74_37 +1 known frame_shift_del c.2030 p.R680fs 0.568 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 34 0 0 27 8 22.8571 CRK 0 genome.wustl.edu 37 17 1326755 1326756 + RNA DEL AA AA - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 1326755 1326756 AA - DEL CRK ENST00000572145 human ensembl 74_37 -1 known rna NULL NULL 0.352:0.023 - - - no_errors CRK HGNC ENSG00000167193 43 0 0 23 19 45.2381 UBBP4 0 genome.wustl.edu 37 17 21731489 21731489 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 21731489 21731489 C - DEL UBBP4 ENST00000578713 human ensembl 74_37 +1 putative frame_shift_del c.564 p.D191fs 1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBBP4 HGNC ENSG00000263563 55 0 0 31 9 22.5 KIAA0100 0 genome.wustl.edu 37 17 26971123 26971123 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 26971123 26971123 A - DEL KIAA0100 ENST00000528896 human ensembl 74_37 -1 known frame_shift_del c.151 p.W51fs 1.000 pfam_FMP27_N pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 124 0 0 91 27 22.8814 CCDC103 0 genome.wustl.edu 37 17 42980014 42980015 + Frame_Shift_Del DEL AG AG - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 42980014 42980015 AG - DEL CCDC103 ENST00000410006 human ensembl 74_37 +1 known frame_shift_del c.558_559 p.S190fs 0.000:0.999 NULL NULL - no_errors CCDC103 HGNC ENSG00000167131 48 0 0 40 9 18.3673 KANSL1 0 genome.wustl.edu 37 17 44248899 44248899 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 44248899 44248899 C - DEL KANSL1 ENST00000262419 human ensembl 74_37 -1 known frame_shift_del c.611 p.G204fs 1.000 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 371 0 0 267 49 15.5063 FAM117A 0 genome.wustl.edu 37 17 47788753 47788754 + Frame_Shift_Ins INS - - G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 47788753 47788754 - G INS FAM117A ENST00000240364 human ensembl 74_37 -1 known frame_shift_ins c.1226_1225 p.L409fs 0.001:0.003 NULL NULL - no_errors FAM117A HGNC ENSG00000121104 54 0 0 26 5 16.129 RNF167 0 genome.wustl.edu 37 17 4844271 4844272 + Frame_Shift_Ins INS - - G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 4844271 4844272 - G INS RNF167 ENST00000262482 human ensembl 74_37 +1 known frame_shift_ins c.67_68 p.L25fs 0.429:0.511 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF167 HGNC ENSG00000108523 55 0 0 39 18 31.5789 PSMD12 0 genome.wustl.edu 37 17 65340757 65340757 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 65340757 65340757 T - DEL PSMD12 ENST00000356126 human ensembl 74_37 -1 known frame_shift_del c.1048 p.R350fs 0.987 pfam_PCI_dom,smart_PCI_dom pfam_PCI_dom,smart_PCI_dom - no_errors PSMD12 HGNC ENSG00000197170 62 0 0 47 13 21.6667 ENSG00000272884 0 genome.wustl.edu 37 17 7344777 7344778 + RNA DEL TC TC - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 7344777 7344778 TC - DEL ENSG00000272884 ENST00000575331 human ensembl 74_37 +1 known rna NULL NULL 0.982:0.987 - - - no_errors RP11-104H15.10 Clone_based_vega_gene ENSG00000272884 46 0 0 17 14 45.1613 TMC8 0 genome.wustl.edu 37 17 76134523 76134524 + Frame_Shift_Ins INS - - T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 17 76134523 76134524 - T INS TMC8 ENST00000318430 human ensembl 74_37 +1 known frame_shift_ins c.1627_1628 p.L544fs 0.979:0.951 NULL pfam_TMC - no_errors TMC8 HGNC ENSG00000167895 129 0 0 103 30 22.5564 DTNA 0 genome.wustl.edu 37 18 32395860 32395860 + RNA DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 18 32395860 32395860 T - DEL DTNA ENST00000592114 human ensembl 74_37 +1 known rna NULL NULL 0.029 - - - no_errors DTNA HGNC ENSG00000134769 59 0 0 39 18 31.5789 SMAD7 0 genome.wustl.edu 37 18 46474794 46474795 + Frame_Shift_Ins INS - - G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 18 46474794 46474795 - G INS SMAD7 ENST00000262158 human ensembl 74_37 -1 known frame_shift_ins c.627_626 p.P210fs 1.000:1.000 superfamily_SMAD_FHA_domain pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,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 SMAD7 HGNC ENSG00000101665 65 0 0 45 8 15.0943 C19orf26 0 genome.wustl.edu 37 19 1231033 1231034 + Frame_Shift_Ins INS - - G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 1231033 1231034 - G INS C19orf26 ENST00000590083 human ensembl 74_37 -1 known frame_shift_ins c.1221_1220 p.R408fs 0.000:0.001 NULL NULL - no_errors C19orf26 HGNC ENSG00000099625 26 0 0 31 7 18.4211 FBXW9 0 genome.wustl.edu 37 19 12800973 12800974 + Frame_Shift_Ins INS - - C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 12800973 12800974 - C INS FBXW9 ENST00000380339 human ensembl 74_37 -1 known frame_shift_ins c.925_924 p.P308fs 0.001:0.002 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW9 HGNC ENSG00000132004 27 0 0 29 7 19.4444 KLHL26 0 genome.wustl.edu 37 19 18780032 18780032 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 18780032 18780032 C - DEL KLHL26 ENST00000300976 human ensembl 74_37 +1 known frame_shift_del c.1825 p.R610fs 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL26 HGNC ENSG00000167487 75 0 0 55 13 19.1176 CRTC1 0 genome.wustl.edu 37 19 18887993 18887993 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 18887993 18887993 C - DEL CRTC1 ENST00000338797 human ensembl 74_37 +1 known frame_shift_del c.1754 p.S588fs 1.000 NULL NULL - no_errors CRTC1 HGNC ENSG00000105662 89 0 0 73 19 20.6522 TLE2 0 genome.wustl.edu 37 19 3013795 3013796 + Frame_Shift_Ins INS - - G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 3013795 3013796 - G INS TLE2 ENST00000262953 human ensembl 74_37 -1 known frame_shift_ins c.745_744 p.S248fs 1.000:1.000 NULL pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Groucho_enhance,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TLE2 HGNC ENSG00000065717 112 0 0 68 28 29.1667 TSHZ3 0 genome.wustl.edu 37 19 31768896 31768896 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 31768896 31768896 G - DEL TSHZ3 ENST00000240587 human ensembl 74_37 -1 known frame_shift_del c.1803 p.M602fs 0.958 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 160 0 0 117 37 24.026 C19orf33 0 genome.wustl.edu 37 19 38795555 38795557 + In_Frame_Del DEL AGG AGG - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 38795555 38795557 AGG - DEL C19orf33 ENST00000301246 human ensembl 74_37 +1 known in_frame_del c.272_274 p.E92in_frame_del 0.000:0.000:0.001 NULL NULL - no_errors C19orf33 HGNC ENSG00000167644 23 0 0 16 4 20 LMTK3 0 genome.wustl.edu 37 19 49002564 49002564 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 49002564 49002564 G - DEL LMTK3 ENST00000270238 human ensembl 74_37 -1 known frame_shift_del c.1849 p.L617fs 1.000 smart_Ser/Thr_dual-sp_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK3 HGNC ENSG00000142235 8 0 0 1 4 80 BAX 0 genome.wustl.edu 37 19 49458971 49458971 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 49458971 49458971 G - DEL BAX ENST00000293288 human ensembl 74_37 +1 known frame_shift_del c.114 p.E41fs 0.588 NULL pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam - no_errors BAX HGNC ENSG00000087088 108 1 0.917431 68 26 27.6596 MIR525 0 genome.wustl.edu 37 19 54200830 54200830 + RNA DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 54200830 54200830 A - DEL MIR525 ENST00000384978 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors MIR525 HGNC ENSG00000207711 82 0 0 56 17 23.2877 LILRB1 0 genome.wustl.edu 37 19 55147140 55147140 + RNA DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 55147140 55147140 C - DEL LILRB1 ENST00000462628 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LILRB1 HGNC ENSG00000104972 73 0 0 58 17 22.6667 PPP1R12C 0 genome.wustl.edu 37 19 55607456 55607456 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 55607456 55607456 G - DEL PPP1R12C ENST00000263433 human ensembl 74_37 -1 known frame_shift_del c.1116 p.I373fs 0.157 pirsf_Pase-1_reg_su_12A/B/C_euk pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12C HGNC ENSG00000125503 61 0 0 38 18 32.1429 ENSG00000269275 0 genome.wustl.edu 37 19 55889294 55889294 + RNA DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 55889294 55889294 G - DEL ENSG00000269275 ENST00000595064 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2105E13.15 Clone_based_vega_gene ENSG00000269275 33 0 0 23 8 25.8065 ZSCAN18 0 genome.wustl.edu 37 19 58596141 58596141 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 58596141 58596141 G - DEL ZSCAN18 ENST00000600404 human ensembl 74_37 -1 known frame_shift_del c.1612 p.R538fs 0.000 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN18 HGNC ENSG00000121413 8 0 0 8 3 27.2727 ACSBG2 0 genome.wustl.edu 37 19 6147615 6147615 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 6147615 6147615 A - DEL ACSBG2 ENST00000252669 human ensembl 74_37 +1 known frame_shift_del c.226 p.K77fs 0.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSBG2 HGNC ENSG00000130377 274 0 0 222 45 16.8539 OR7E24 0 genome.wustl.edu 37 19 9361741 9361741 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 19 9361741 9361741 T - DEL OR7E24 ENST00000456448 human ensembl 74_37 +1 known frame_shift_del c.22 p.F11fs 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7E24 HGNC ENSG00000237521 14 0 0 6 5 45.4545 CD8BP 0 genome.wustl.edu 37 2 107107415 107107416 + RNA INS - - A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 107107415 107107416 - A INS CD8BP ENST00000416057 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors CD8BP HGNC ENSG00000254126 74 0 0 55 22 28.5714 SEPT10 0 genome.wustl.edu 37 2 110301828 110301828 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 110301828 110301828 T - DEL SEPT10 ENST00000356688 human ensembl 74_37 -1 putative frame_shift_del c.1506 p.K502fs 0.004 NULL pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase - no_errors SEPT10 HGNC ENSG00000186522 39 0 0 22 8 26.6667 SAP130 0 genome.wustl.edu 37 2 128767857 128767859 + In_Frame_Del DEL AGT AGT - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 AGT AGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 128767857 128767859 AGT - DEL SAP130 ENST00000357702 human ensembl 74_37 -1 known in_frame_del c.933_931 p.T311in_frame_del 0.908:0.990:0.962 NULL NULL - no_errors SAP130 HGNC ENSG00000136715 91 0 0 63 19 23.1707 LRP1B 0 genome.wustl.edu 37 2 141032034 141032034 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 141032034 141032034 C - DEL LRP1B ENST00000389484 human ensembl 74_37 -1 known frame_shift_del c.13101 p.H4368fs 0.016 smart_EG-like_dom 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 115 0 0 83 19 18.6275 ACVR2A 0 genome.wustl.edu 37 2 148680608 148680608 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 148680608 148680608 T - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.1144 p.L383fs 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_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 306 0 0 238 70 22.7273 XIRP2 0 genome.wustl.edu 37 2 168101959 168101960 + Frame_Shift_Ins INS - - T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 168101959 168101960 - T INS XIRP2 ENST00000295237 human ensembl 74_37 +1 known frame_shift_ins c.4057_4058 p.E1355fs 1.000:1.000 pfam_Actin-binding_Xin_repeat pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 85 0 0 69 14 16.8675 SMC6 0 genome.wustl.edu 37 2 17913083 17913084 + Frame_Shift_Del DEL AC AC - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 17913083 17913084 AC - DEL SMC6 ENST00000381272 human ensembl 74_37 -1 known frame_shift_del c.484_483 p.Y162fs 1.000:0.957 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors SMC6 HGNC ENSG00000163029 85 0 0 51 19 27.1429 KCNS3 0 genome.wustl.edu 37 2 18112530 18112530 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 18112530 18112530 G - DEL KCNS3 ENST00000304101 human ensembl 74_37 +1 known frame_shift_del c.255 p.K87fs 0.895 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3 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_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS3 HGNC ENSG00000170745 168 0 0 104 28 21.2121 COL5A2 0 genome.wustl.edu 37 2 189899775 189899775 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 189899775 189899775 T - DEL COL5A2 ENST00000374866 human ensembl 74_37 -1 known frame_shift_del c.4220 p.N1407fs 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 90 0 0 56 17 23.2877 SGOL2 0 genome.wustl.edu 37 2 201437004 201437004 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 201437004 201437004 T - DEL SGOL2 ENST00000357799 human ensembl 74_37 +1 known frame_shift_del c.1935 p.F648fs 0.016 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 130 1 0.763359 56 17 23.2877 BMPR2 0 genome.wustl.edu 37 2 203420130 203420130 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 203420130 203420130 A - DEL BMPR2 ENST00000374580 human ensembl 74_37 +1 known frame_shift_del c.1742 p.N583fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR2 HGNC ENSG00000204217 103 0 0 74 16 17.7778 ABI2 0 genome.wustl.edu 37 2 204193211 204193213 + RNA DEL GAG GAG - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 204193211 204193213 GAG - DEL ABI2 ENST00000376135 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000:1.000 - - - no_errors ABI2 HGNC ENSG00000138443 11 0 0 4 2 33.3333 HEATR5B 0 genome.wustl.edu 37 2 37208634 37208635 + Frame_Shift_Ins INS - - A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 37208634 37208635 - A INS HEATR5B ENST00000233099 human ensembl 74_37 -1 known frame_shift_ins c.6215_6214 p.*2072fs 0.999:1.000 NULL superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 36 0 0 26 6 18.75 SOS1 0 genome.wustl.edu 37 2 39222520 39222520 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 39222520 39222520 T - DEL SOS1 ENST00000402219 human ensembl 74_37 -1 known frame_shift_del c.3090 p.K1030fs 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS1 HGNC ENSG00000115904 107 1 0.925926 70 18 20.4545 MAP4K3 0 genome.wustl.edu 37 2 39552896 39552897 + Frame_Shift_Ins INS - - T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 39552896 39552897 - T INS MAP4K3 ENST00000263881 human ensembl 74_37 -1 known frame_shift_ins c.782_781 p.R261fs 1.000:1.000 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_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K3 HGNC ENSG00000011566 93 0 0 41 9 18 PSME4 0 genome.wustl.edu 37 2 54093345 54093345 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 54093345 54093345 T - DEL PSME4 ENST00000404125 human ensembl 74_37 -1 known frame_shift_del c.5413 p.T1805fs 1.000 pfam_DUF3437,superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 136 0 0 105 44 29.5302 MTIF2 0 genome.wustl.edu 37 2 55464461 55464461 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 55464461 55464461 T - DEL MTIF2 ENST00000263629 human ensembl 74_37 -1 known frame_shift_del c.1974 p.K658fs 0.996 superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom - no_errors MTIF2 HGNC ENSG00000085760 92 0 0 55 25 31.25 SUCLG1 0 genome.wustl.edu 37 2 84650857 84650857 + RNA DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 84650857 84650857 T - DEL SUCLG1 ENST00000491123 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors SUCLG1 HGNC ENSG00000163541 22 0 0 4 4 50 EIF2AK3 0 genome.wustl.edu 37 2 88874268 88874269 + Frame_Shift_Ins INS - - CT TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 2 88874268 88874269 - CT INS EIF2AK3 ENST00000303236 human ensembl 74_37 -1 known frame_shift_ins c.2733_2732 p.S912fs 0.922:0.973 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EIF2AK3 HGNC ENSG00000172071 118 0 0 89 6 6.31579 BTBD3 0 genome.wustl.edu 37 20 11899210 11899210 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 20 11899210 11899210 C - DEL BTBD3 ENST00000378226 human ensembl 74_37 +1 known frame_shift_del c.287 p.P97fs 1.000 superfamily_BTB/POZ_fold pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD3 HGNC ENSG00000132640 169 0 0 186 22 10.5769 CD93 0 genome.wustl.edu 37 20 23065992 23065992 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 20 23065992 23065992 C - DEL CD93 ENST00000246006 human ensembl 74_37 -1 known frame_shift_del c.838 p.D280fs 0.033 pirsf_CD93/CD141,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CD93 HGNC ENSG00000125810 202 0 0 137 38 21.7143 SLC4A11 0 genome.wustl.edu 37 20 3215425 3215425 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 20 3215425 3215425 A - DEL SLC4A11 ENST00000380059 human ensembl 74_37 -1 known frame_shift_del c.333 p.F111fs 1.000 NULL pfam_HCO3_transpt_C,pfam_PTS_EIIA_type-2_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk - no_errors SLC4A11 HGNC ENSG00000088836 76 0 0 45 17 27.4194 SYCP2 0 genome.wustl.edu 37 20 58444990 58444990 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 20 58444990 58444990 T - DEL SYCP2 ENST00000357552 human ensembl 74_37 -1 known frame_shift_del c.3604 p.I1202fs 0.000 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 45 0 0 19 4 17.3913 MTG2 0 genome.wustl.edu 37 20 60770930 60770931 + Frame_Shift_Del DEL CA CA - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 20 60770930 60770931 CA - DEL MTG2 ENST00000370823 human ensembl 74_37 +1 known frame_shift_del c.277_278 p.H93fs 1.000:1.000 pfam_GTP1_OBG_dom,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,tigrfam_GTP-bd_Obg/CgtA pfam_GTP1_OBG_dom,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain,tigrfam_GTP-bd_Obg/CgtA,tigrfam_Small_GTP-bd_dom - no_errors MTG2 HGNC ENSG00000101181 59 0 0 37 15 28.8462 DIDO1 0 genome.wustl.edu 37 20 61511207 61511207 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 20 61511207 61511207 G - DEL DIDO1 ENST00000266070 human ensembl 74_37 -1 known frame_shift_del c.6101 p.P2034fs 0.795 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 36 0 0 46 12 20.6897 COL18A1 0 genome.wustl.edu 37 21 46888672 46888673 + Frame_Shift_Ins INS - - G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 21 46888672 46888673 - G INS COL18A1 ENST00000359759 human ensembl 74_37 +1 known frame_shift_ins c.1868_1869 p.A626fs 0.996:0.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 15 0 0 13 2 13.3333 C22orf24 0 genome.wustl.edu 37 22 32334105 32334105 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 22 32334105 32334105 A - DEL C22orf24 ENST00000543051 human ensembl 74_37 -1 known frame_shift_del c.149 p.F50fs 0.000 NULL NULL - no_errors C22orf24 HGNC ENSG00000128254 115 0 0 108 6 5.26316 SREBF2 0 genome.wustl.edu 37 22 42271637 42271637 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 22 42271637 42271637 C - DEL SREBF2 ENST00000361204 human ensembl 74_37 +1 known frame_shift_del c.1295 p.P434fs 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF2 HGNC ENSG00000198911 124 1 0.8 83 25 23.1481 SAMM50 0 genome.wustl.edu 37 22 44392208 44392209 + RNA INS - - T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 22 44392208 44392209 - T INS SAMM50 ENST00000493621 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors SAMM50 HGNC ENSG00000100347 633 1 0.157729 533 42 7.30435 ARHGAP8 0 genome.wustl.edu 37 22 45127647 45127649 + In_Frame_Del DEL CTT CTT - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 22 45127647 45127649 CTT - DEL ARHGAP8 ENST00000517296 human ensembl 74_37 +1 known in_frame_del c.360_362 p.F123in_frame_del 0.996:1.000:1.000 pfam_HbrB pfam_RhoGAP_dom,pfam_HbrB,pfam_CRAL-TRIO_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CRAL-TRIO_dom,smart_RhoGAP_dom,pfscan_CRAL-TRIO_dom,pfscan_RhoGAP_dom - no_errors ARHGAP8 HGNC ENSG00000241484 61 0 0 52 15 22.3881 TRMU 0 genome.wustl.edu 37 22 46746285 46746285 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 22 46746285 46746285 G - DEL TRMU ENST00000290846 human ensembl 74_37 +1 known frame_shift_del c.576 p.G194fs 0.998 pfam_tRNA-specific_2-thiouridylase,tigrfam_tRNA-specific_2-thiouridylase pfam_tRNA-specific_2-thiouridylase,pfam_ThiI_C_dom,pfam_NAD/GMP_synthase,tigrfam_tRNA-specific_2-thiouridylase - no_errors TRMU HGNC ENSG00000100416 131 0 0 123 8 6.10687 TBC1D23 0 genome.wustl.edu 37 3 100039735 100039736 + Frame_Shift_Ins INS - - A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 100039735 100039736 - A INS TBC1D23 ENST00000394144 human ensembl 74_37 +1 known frame_shift_ins c.1938_1939 p.H649fs 1.000:1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Rhodanese-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Rhodanese-like_dom - no_errors TBC1D23 HGNC ENSG00000036054 65 0 0 44 9 16.9811 MORC1 0 genome.wustl.edu 37 3 108682418 108682419 + Frame_Shift_Ins INS - - T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 108682418 108682419 - T INS MORC1 ENST00000232603 human ensembl 74_37 -1 known frame_shift_ins c.2642_2641 p.I881fs 0.154:0.062 NULL pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 37 0 0 16 5 23.8095 ZBTB20 0 genome.wustl.edu 37 3 114058003 114058003 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 114058003 114058003 G - DEL ZBTB20 ENST00000474710 human ensembl 74_37 -1 known frame_shift_del c.2075 p.P692fs 0.678 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 49 0 0 31 15 32.6087 POLQ 0 genome.wustl.edu 37 3 121207489 121207489 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 121207489 121207489 A - DEL POLQ ENST00000264233 human ensembl 74_37 -1 known frame_shift_del c.4289 p.L1430fs 0.152 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 37 0 0 19 7 26.9231 ILDR1 0 genome.wustl.edu 37 3 121712444 121712444 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 121712444 121712444 C - DEL ILDR1 ENST00000344209 human ensembl 74_37 -1 known frame_shift_del c.1152 p.P385fs 0.001 NULL pfam_LISCH7,smart_Ig_sub - no_errors ILDR1 HGNC ENSG00000145103 91 0 0 77 17 18.0851 IQSEC1 0 genome.wustl.edu 37 3 12977232 12977232 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 12977232 12977232 G - DEL IQSEC1 ENST00000273221 human ensembl 74_37 -1 known frame_shift_del c.1326 p.R443fs 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC1 HGNC ENSG00000144711 40 0 0 26 8 23.5294 NUP210 0 genome.wustl.edu 37 3 13438890 13438890 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 13438890 13438890 G - DEL NUP210 ENST00000254508 human ensembl 74_37 -1 known frame_shift_del c.403 p.L135fs 0.996 superfamily_Cadherin-like pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 61 0 0 46 20 30.303 MSL2 0 genome.wustl.edu 37 3 135870433 135870433 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 135870433 135870433 T - DEL MSL2 ENST00000309993 human ensembl 74_37 -1 known frame_shift_del c.1290 p.D431fs 1.000 NULL pfscan_Znf_RING - no_errors MSL2 HGNC ENSG00000174579 116 0 0 59 15 20.2703 FAIM 0 genome.wustl.edu 37 3 138340266 138340266 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 138340266 138340266 A - DEL FAIM ENST00000338446 human ensembl 74_37 +1 known frame_shift_del c.98 p.M35fs 0.997 pfam_FAIM pfam_FAIM - no_errors FAIM HGNC ENSG00000158234 126 0 0 64 18 21.9512 GALNT15 0 genome.wustl.edu 37 3 16217061 16217062 + Frame_Shift_Ins INS - - G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 16217061 16217062 - G INS GALNT15 ENST00000339732 human ensembl 74_37 +1 known frame_shift_ins c.403_404 p.A137fs 0.999:0.998 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT15 HGNC ENSG00000131386 34 0 0 27 11 28.9474 ABCC5 0 genome.wustl.edu 37 3 183665256 183665257 + Frame_Shift_Ins INS - - A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 183665256 183665257 - A INS ABCC5 ENST00000334444 human ensembl 74_37 -1 known frame_shift_ins c.3270_3269 p.L1090fs 1.000:1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC5 HGNC ENSG00000114770 26 0 0 18 2 10 SGOL1 0 genome.wustl.edu 37 3 20212755 20212755 + RNA DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 20212755 20212755 A - DEL SGOL1 ENST00000460637 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors SGOL1 HGNC ENSG00000129810 25 0 0 14 4 22.2222 DYNC1LI1 0 genome.wustl.edu 37 3 32571049 32571050 + Frame_Shift_Ins INS - - T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 32571049 32571050 - T INS DYNC1LI1 ENST00000273130 human ensembl 74_37 -1 known frame_shift_ins c.1289_1288 p.I430fs 1.000:1.000 pfam_Dynein_light_int_chain pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase - no_errors DYNC1LI1 HGNC ENSG00000144635 42 0 0 24 4 14.2857 WDR48 0 genome.wustl.edu 37 3 39135499 39135501 + In_Frame_Del DEL AAG AAG - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 39135499 39135501 AAG - DEL WDR48 ENST00000302313 human ensembl 74_37 +1 known in_frame_del c.1880_1882 p.E629in_frame_del 1.000:1.000:1.000 pfam_DUF3337 pfam_DUF3337,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 WDR48 HGNC ENSG00000114742 79 0 0 44 20 31.25 GORASP1 0 genome.wustl.edu 37 3 39145036 39145038 + In_Frame_Del DEL CTC CTC - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 39145036 39145038 CTC - DEL GORASP1 ENST00000319283 human ensembl 74_37 -1 known in_frame_del c.72_70 p.E24in_frame_del 1.000:1.000:1.000 pfam_GRASP55/65_PDZ,superfamily_PDZ pfam_GRASP55/65_PDZ,superfamily_PDZ - no_errors GORASP1 HGNC ENSG00000114745 66 0 0 48 14 22.5806 XIRP1 0 genome.wustl.edu 37 3 39227535 39227535 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 39227535 39227535 C - DEL XIRP1 ENST00000340369 human ensembl 74_37 -1 known frame_shift_del c.3402 p.W1135fs 0.997 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 180 0 0 135 32 19.1617 GLT8D1 0 genome.wustl.edu 37 3 52730572 52730572 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 3 52730572 52730572 C - DEL GLT8D1 ENST00000266014 human ensembl 74_37 -1 known frame_shift_del c.433 p.E145fs 0.994 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GLT8D1 HGNC ENSG00000016864 67 0 0 47 17 26.5625 USP38 0 genome.wustl.edu 37 4 144135592 144135593 + Frame_Shift_Ins INS - - A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 4 144135592 144135593 - A INS USP38 ENST00000307017 human ensembl 74_37 +1 known frame_shift_ins c.2463_2464 p.L823fs 1.000:1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP38 HGNC ENSG00000170185 105 0 0 64 18 21.9512 CPEB2 0 genome.wustl.edu 37 4 15067858 15067858 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 4 15067858 15067858 T - DEL CPEB2 ENST00000538197 human ensembl 74_37 +1 known frame_shift_del c.2959 p.C989fs 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB2 HGNC ENSG00000137449 159 0 0 158 33 17.2775 TKTL2 0 genome.wustl.edu 37 4 164394544 164394544 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 4 164394544 164394544 G - DEL TKTL2 ENST00000280605 human ensembl 74_37 -1 known frame_shift_del c.343 p.R115fs 0.001 pfam_Transketolase_N pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL2 HGNC ENSG00000151005 55 0 0 50 13 20.6349 GPR125 0 genome.wustl.edu 37 4 22389604 22389605 + Frame_Shift_Del DEL TC TC - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 4 22389604 22389605 TC - DEL GPR125 ENST00000334304 human ensembl 74_37 -1 known frame_shift_del c.3690_3689 p.R1230fs 0.297:1.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR125 HGNC ENSG00000152990 106 0 0 107 25 18.9394 RBPJ 0 genome.wustl.edu 37 4 26417146 26417146 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 4 26417146 26417146 A - DEL RBPJ ENST00000342295 human ensembl 74_37 +1 known frame_shift_del c.244 p.E85fs 1.000 pfam_LAG1_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,pfam_IPT,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJ HGNC ENSG00000168214 112 0 0 83 23 21.6981 POLR2B 0 genome.wustl.edu 37 4 57871589 57871589 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 4 57871589 57871589 A - DEL POLR2B ENST00000314595 human ensembl 74_37 +1 known frame_shift_del c.1078 p.A362fs 1.000 pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5 - no_errors POLR2B HGNC ENSG00000047315 138 0 0 59 16 21.3333 PCGF3 0 genome.wustl.edu 37 4 728799 728799 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 4 728799 728799 C - DEL PCGF3 ENST00000362003 human ensembl 74_37 +1 known frame_shift_del c.189 p.L65fs 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF3 HGNC ENSG00000185619 50 0 0 17 4 19.0476 ANTXR2 0 genome.wustl.edu 37 4 80905990 80905990 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 4 80905990 80905990 C - DEL ANTXR2 ENST00000307333 human ensembl 74_37 -1 known frame_shift_del c.1069 p.A357fs 0.559 pirsf_Anthrax_toxin_rcpt pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_C,pfam_Anthrax_toxin_rcpt_extracel,pfam_VWF_A,superfamily_Ig_E-set,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR2 HGNC ENSG00000163297 23 0 0 22 3 12 ABCG2 0 genome.wustl.edu 37 4 89052270 89052271 + Frame_Shift_Ins INS - - T TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 4 89052270 89052271 - T INS ABCG2 ENST00000237612 human ensembl 74_37 -1 known frame_shift_ins c.474_473 p.N158fs 1.000:1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG2 HGNC ENSG00000118777 177 0 0 144 27 15.7895 GRID2 0 genome.wustl.edu 37 4 93225753 93225753 + RNA DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 4 93225753 93225753 A - DEL GRID2 ENST00000505687 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GRID2 HGNC ENSG00000152208 18 0 0 9 5 35.7143 APC 0 genome.wustl.edu 37 5 112164566 112164566 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 112164566 112164566 T - DEL APC ENST00000257430 human ensembl 74_37 +1 known frame_shift_del c.1640 p.L548fs 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 67 0 0 43 9 17.3077 DNAH5 0 genome.wustl.edu 37 5 13701426 13701426 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 13701426 13701426 A - DEL DNAH5 ENST00000265104 human ensembl 74_37 -1 known frame_shift_del c.13458 p.F4486fs 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 119 0 0 81 21 20.5882 RBM27 0 genome.wustl.edu 37 5 145647320 145647320 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 145647320 145647320 A - DEL RBM27 ENST00000265271 human ensembl 74_37 +1 known frame_shift_del c.2440 p.K816fs 1.000 NULL pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 68 0 0 48 6 11.1111 LARP1 0 genome.wustl.edu 37 5 154173390 154173390 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 154173390 154173390 C - DEL LARP1 ENST00000336314 human ensembl 74_37 +1 known frame_shift_del c.668 p.T226fs 0.999 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC ENSG00000155506 291 0 0 244 56 18.6667 ZFR 0 genome.wustl.edu 37 5 32403482 32403482 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 32403482 32403482 T - DEL ZFR ENST00000265069 human ensembl 74_37 -1 known frame_shift_del c.1245 p.K415fs 1.000 NULL pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR HGNC ENSG00000056097 127 0 0 109 8 6.83761 ADAMTS12 0 genome.wustl.edu 37 5 33881400 33881401 + Frame_Shift_Ins INS - - A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 5 33881400 33881401 - A INS ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known frame_shift_ins c.313_312 p.N104fs 1.000:0.991 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 152 0 0 105 27 20.4545 SOBP 0 genome.wustl.edu 37 6 107955431 107955431 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 107955431 107955431 C - DEL SOBP ENST00000317357 human ensembl 74_37 +1 known frame_shift_del c.1383 p.P463fs 1.000 NULL NULL - no_errors SOBP HGNC ENSG00000112320 34 0 0 17 5 22.7273 ENSG00000229036 0 genome.wustl.edu 37 6 143811978 143811978 + RNA DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 143811978 143811978 A - DEL ENSG00000229036 ENST00000589563 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP1-20N2.6 Clone_based_vega_gene ENSG00000229036 36 0 0 39 4 9.30233 RMND1 0 genome.wustl.edu 37 6 151766726 151766726 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 151766726 151766726 T - DEL RMND1 ENST00000367303 human ensembl 74_37 -1 known frame_shift_del c.221 p.K74fs 0.000 NULL pfam_DUF155 - no_errors RMND1 HGNC ENSG00000155906 268 0 0 215 12 5.28634 IGF2R 0 genome.wustl.edu 37 6 160485488 160485488 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 160485488 160485488 G - DEL IGF2R ENST00000356956 human ensembl 74_37 +1 known frame_shift_del c.3942 p.D1317fs 0.125 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 192 0 0 150 19 11.2426 RBM24 0 genome.wustl.edu 37 6 17292449 17292450 + RNA DEL AA AA - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 17292449 17292450 AA - DEL RBM24 ENST00000508508 human ensembl 74_37 +1 known rna NULL NULL 0.915:0.719 - - - no_errors RBM24 HGNC ENSG00000112183 19 0 0 10 3 23.0769 HIST1H1B 0 genome.wustl.edu 37 6 27835239 27835241 + In_Frame_Del DEL CTT CTT - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 27835239 27835241 CTT - DEL HIST1H1B ENST00000331442 human ensembl 74_37 -1 known in_frame_del c.69_67 p.K23in_frame_del 0.386:1.000:1.000 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1B HGNC ENSG00000184357 52 0 0 28 9 24.3243 GPX5 0 genome.wustl.edu 37 6 28497212 28497212 + RNA DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 28497212 28497212 A - DEL GPX5 ENST00000442674 human ensembl 74_37 +1 known rna NULL NULL 0.025 - - - no_errors GPX5 HGNC ENSG00000224586 75 0 0 39 5 11.3636 MRPS18B 0 genome.wustl.edu 37 6 30587710 30587712 + In_Frame_Del DEL GTT GTT - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 GTT GTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 30587710 30587712 GTT - DEL MRPS18B ENST00000259873 human ensembl 74_37 +1 known in_frame_del c.298_300 p.V101in_frame_del 0.985:0.997:0.995 superfamily_Ribosomal_S18 pfam_Ribosomal_S18,superfamily_Ribosomal_S18 - no_errors MRPS18B HGNC ENSG00000204568 182 0 0 116 20 14.7059 STK38 0 genome.wustl.edu 37 6 36465583 36465583 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 36465583 36465583 A - DEL STK38 ENST00000229812 human ensembl 74_37 -1 known frame_shift_del c.1146 p.F382fs 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors STK38 HGNC ENSG00000112079 91 0 0 33 13 28.2609 SMAP1 0 genome.wustl.edu 37 6 71546674 71546674 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 71546674 71546674 A - DEL SMAP1 ENST00000370455 human ensembl 74_37 +1 known frame_shift_del c.607 p.S205fs 0.970 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP1 HGNC ENSG00000112305 26 0 0 15 5 25 TTK 0 genome.wustl.edu 37 6 80751910 80751910 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 6 80751910 80751910 A - DEL TTK ENST00000369798 human ensembl 74_37 +1 known frame_shift_del c.2565 p.K857fs 0.011 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 TTK HGNC ENSG00000112742 73 0 0 23 4 14.8148 MEPCE 0 genome.wustl.edu 37 7 100028067 100028068 + Frame_Shift_Ins INS - - G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 100028067 100028068 - G INS MEPCE ENST00000310512 human ensembl 74_37 +1 known frame_shift_ins c.426_427 p.G145fs 0.466:0.496 NULL pfam_Bin3 - no_errors MEPCE HGNC ENSG00000146834 34 0 0 18 10 35.7143 GIGYF1 0 genome.wustl.edu 37 7 100284335 100284337 + In_Frame_Del DEL CCT CCT - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 100284335 100284337 CCT - DEL GIGYF1 ENST00000275732 human ensembl 74_37 -1 known in_frame_del c.631_629 p.E210in_frame_del 1.000:0.992:0.999 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 31 0 0 41 4 8.88889 CBLL1 0 genome.wustl.edu 37 7 107395909 107395909 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 107395909 107395909 A - DEL CBLL1 ENST00000440859 human ensembl 74_37 +1 known frame_shift_del c.413 p.K140fs 1.000 pfscan_Znf_RING pfscan_Znf_RING - no_errors CBLL1 HGNC ENSG00000105879 269 2 0.738007 117 29 19.863 LAMB4 0 genome.wustl.edu 37 7 107745044 107745045 + Frame_Shift_Del DEL AC AC - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 107745044 107745045 AC - DEL LAMB4 ENST00000205386 human ensembl 74_37 -1 known frame_shift_del c.891_890 p.C297fs 0.983:1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 301 1 0.331126 259 56 17.7778 ATG9B 0 genome.wustl.edu 37 7 150720306 150720307 + RNA INS - - G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 150720306 150720307 - G INS ATG9B ENST00000473698 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.007 - - - no_errors ATG9B HGNC ENSG00000181652 135 1 0.735294 139 22 13.6646 ABCB4 0 genome.wustl.edu 37 7 87074282 87074282 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 87074282 87074282 A - DEL ABCB4 ENST00000265723 human ensembl 74_37 -1 known frame_shift_del c.1015 p.S339fs 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,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB4 HGNC ENSG00000005471 32 0 0 19 6 24 MTERF 0 genome.wustl.edu 37 7 91509448 91509449 + RNA INS - - AA TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 7 91509448 91509449 - AA INS MTERF ENST00000481516 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.003 - - - no_errors MTERF HGNC ENSG00000127989 27 0 0 18 5 21.7391 FAM135B 0 genome.wustl.edu 37 8 139151232 139151232 + Frame_Shift_Del DEL T T - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 8 139151232 139151232 T - DEL FAM135B ENST00000395297 human ensembl 74_37 -1 known frame_shift_del c.3898 p.T1300fs 1.000 pfam_DUF676_lipase-like pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 86 0 0 61 16 20.7792 EPPK1 0 genome.wustl.edu 37 8 144941378 144941378 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 8 144941378 144941378 C - DEL EPPK1 ENST00000525985 human ensembl 74_37 -1 known frame_shift_del c.6044 p.G2015fs 0.996 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 36 0 0 21 14 40 PLEC 0 genome.wustl.edu 37 8 144995352 144995352 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 8 144995352 144995352 C - DEL PLEC ENST00000322810 human ensembl 74_37 -1 known frame_shift_del c.9048 p.C3017fs 0.002 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 91 0 0 69 14 16.8675 OPLAH 0 genome.wustl.edu 37 8 145113719 145113720 + Frame_Shift_Del DEL GA GA - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 8 145113719 145113720 GA - DEL OPLAH ENST00000426825 human ensembl 74_37 -1 known frame_shift_del c.544_543 p.G183fs 0.559:0.439 pfam_Hydant_A_N pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 14 0 0 9 4 30.7692 TUBBP1 0 genome.wustl.edu 37 8 30209504 30209504 + RNA DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 8 30209504 30209504 A - DEL TUBBP1 ENST00000518096 human ensembl 74_37 +1 known rna NULL NULL 0.026 - - - no_errors TUBBP1 HGNC ENSG00000127589 47 0 0 36 11 23.4043 WRN 0 genome.wustl.edu 37 8 30915970 30915971 + Frame_Shift_Ins INS - - A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 8 30915970 30915971 - A INS WRN ENST00000298139 human ensembl 74_37 +1 known frame_shift_ins c.7_8 p.L6fs 0.148:0.139 NULL pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 34 0 0 16 8 33.3333 XKR4 0 genome.wustl.edu 37 8 56270310 56270311 + Frame_Shift_Ins INS - - A TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 8 56270310 56270311 - A INS XKR4 ENST00000327381 human ensembl 74_37 +1 known frame_shift_ins c.879_880 p.M294fs 1.000:1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 173 0 0 115 27 19.0141 COL27A1 0 genome.wustl.edu 37 9 117069907 117069907 + RNA DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 117069907 117069907 C - DEL COL27A1 ENST00000468565 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors COL27A1 HGNC ENSG00000196739 83 0 0 43 15 25.8621 FNBP1 0 genome.wustl.edu 37 9 132678318 132678318 + RNA DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 132678318 132678318 A - DEL FNBP1 ENST00000462766 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors FNBP1 HGNC ENSG00000187239 11 0 0 11 5 31.25 NTNG2 0 genome.wustl.edu 37 9 135116231 135116232 + RNA INS - - G TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 135116231 135116232 - G INS NTNG2 ENST00000490694 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors NTNG2 HGNC ENSG00000196358 18 0 0 14 2 12.5 WDR5 0 genome.wustl.edu 37 9 137019598 137019598 + Frame_Shift_Del DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 137019598 137019598 C - DEL WDR5 ENST00000358625 human ensembl 74_37 +1 known frame_shift_del c.642 p.V217fs 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR5 HGNC ENSG00000196363 484 1 0.206186 376 51 11.9438 PSIP1 0 genome.wustl.edu 37 9 15472612 15472613 + RNA DEL AA AA - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 15472612 15472613 AA - DEL PSIP1 ENST00000495873 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors PSIP1 HGNC ENSG00000164985 56 0 0 42 11 20.7547 ADAMTSL1 0 genome.wustl.edu 37 9 18680350 18680350 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 18680350 18680350 G - DEL ADAMTSL1 ENST00000327883 human ensembl 74_37 +1 known frame_shift_del c.1177 p.G395fs 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_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 70 0 0 42 11 20.7547 UHRF2 0 genome.wustl.edu 37 9 6499822 6499822 + RNA DEL C C - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 6499822 6499822 C - DEL UHRF2 ENST00000492853 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors UHRF2 HGNC ENSG00000147854 41 0 0 31 11 26.1905 TMEM252 0 genome.wustl.edu 37 9 71152337 71152338 + Frame_Shift_Del DEL CT CT - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 71152337 71152338 CT - DEL TMEM252 ENST00000377311 human ensembl 74_37 -1 known frame_shift_del c.351_350 p.E117fs 0.001:0.001 NULL NULL - no_errors TMEM252 HGNC ENSG00000181778 48 0 0 35 3 7.89474 VPS13A 0 genome.wustl.edu 37 9 79999547 79999548 + In_Frame_Ins INS - - TGA TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 9 79999547 79999548 - TGA INS VPS13A ENST00000357409 human ensembl 74_37 +1 known in_frame_ins c.9236_9237 p.3083in_frame_insD 1.000:0.999 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 73 0 0 62 7 10.1449 ENSG00000234050 0 genome.wustl.edu 37 X 102193128 102193129 + RNA DEL CT CT - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 X 102193128 102193129 CT - DEL ENSG00000234050 ENST00000413528 human ensembl 74_37 -1 known rna NULL NULL 0.005:0.002 - - - no_errors LL0XNC01-237H1.3 Clone_based_vega_gene ENSG00000234050 22 0 0 11 12 52.1739 GPC4 0 genome.wustl.edu 37 X 132439923 132439923 + Frame_Shift_Del DEL G G - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 X 132439923 132439923 G - DEL GPC4 ENST00000370828 human ensembl 74_37 -1 known frame_shift_del c.1032 p.K345fs 0.073 pfam_Glypican pfam_Glypican - no_errors GPC4 HGNC ENSG00000076716 210 1 0.473934 130 59 31.2169 DKC1 0 genome.wustl.edu 37 X 154005089 154005091 + In_Frame_Del DEL AAG AAG - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 X 154005089 154005091 AAG - DEL DKC1 ENST00000369550 human ensembl 74_37 +1 known in_frame_del c.1492_1494 p.K501in_frame_del 0.284:0.284:0.273 NULL pfam_Dyskerin-like,pfam_PsdUridine_synth,pfam_PUA,superfamily_PsdUridine_synth_cat_dom,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,tigrfam_tRNA_PsdUridine_synth_B_fam,tigrfam_Uncharacterised_CHP00451 - no_errors DKC1 HGNC ENSG00000130826 14 0 0 6 3 33.3333 CNKSR2 0 genome.wustl.edu 37 X 21609256 21609256 + Frame_Shift_Del DEL A A - TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 X 21609256 21609256 A - DEL CNKSR2 ENST00000379510 human ensembl 74_37 +1 known frame_shift_del c.1774 p.K593fs 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR2 HGNC ENSG00000149970 63 0 0 16 18 52.9412 FAM155B 0 genome.wustl.edu 37 X 68725612 68725613 + Frame_Shift_Ins INS - - C TCGA-BR-7703-01A-11D-2053-08 TCGA-BR-7703-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 12b64874-014c-4891-baf0-ad25f27d871f 2c7c8b56-3521-48af-81e5-7788523b61c8 X 68725612 68725613 - C INS FAM155B ENST00000252338 human ensembl 74_37 +1 known frame_shift_ins c.487_488 p.L166fs 0.069:0.029 NULL NULL - no_errors FAM155B HGNC ENSG00000130054 56 0 0 24 15 38.4615