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 CAP1 0 genome.wustl.edu 37 1 40536131 40536131 + Missense_Mutation SNP G G A TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 1 40536131 40536131 G A SNP CAP1 ENST00000372792 human ensembl 74_37 +1 known missense c.1147 p.D383N 1.000 pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif pfam_Adenylate_cyclase-assoc_CAP_N,pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif - no_errors CAP1 HGNC ENSG00000131236 46 0 0 26 3 10.3448 MKNK1 0 genome.wustl.edu 37 1 47027164 47027164 + Missense_Mutation SNP G G T TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 1 47027164 47027164 G T SNP MKNK1 ENST00000371946 human ensembl 74_37 -1 known missense c.1114 p.P372T 1.000 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_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 MKNK1 HGNC ENSG00000079277 37 0 0 28 2 6.66667 SGIP1 0 genome.wustl.edu 37 1 67199453 67199453 + Missense_Mutation SNP A A G TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 1 67199453 67199453 A G SNP SGIP1 ENST00000237247 human ensembl 74_37 +1 known missense c.2014 p.N672D 1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 31 0 0 29 4 12.1212 OR4X1 0 genome.wustl.edu 37 11 48286169 48286169 + Missense_Mutation SNP T T A TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 11 48286169 48286169 T A SNP OR4X1 ENST00000320048 human ensembl 74_37 +1 known missense c.757 p.S253T 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4X1 HGNC ENSG00000176567 54 0 0 51 4 7.27273 OR9G1 0 genome.wustl.edu 37 11 56468225 56468225 + Missense_Mutation SNP G G A TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 11 56468225 56468225 G A SNP OR9G1 ENST00000312153 human ensembl 74_37 +1 known missense c.362 p.R121H 0.998 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 OR9G1 HGNC ENSG00000174914 63 0 0 61 5 7.57576 DNM1P47 0 genome.wustl.edu 37 15 102292726 102292726 + RNA SNP G G A TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 15 102292726 102292726 G A SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 19 0 0 9 4 30.7692 KIAA1199 0 genome.wustl.edu 37 15 81225778 81225778 + Missense_Mutation SNP A A G TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 15 81225778 81225778 A G SNP KIAA1199 ENST00000220244 human ensembl 74_37 +1 known missense c.2986 p.I996V 0.963 superfamily_Pectin_lyase_fold/virulence pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 41 0 0 39 5 11.3636 CDH1 0 genome.wustl.edu 37 16 68842463 68842463 + Missense_Mutation SNP T T C TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 16 68842463 68842463 T C SNP CDH1 ENST00000261769 human ensembl 74_37 +1 known missense c.524 p.L175P 0.996 pfam_Cadherin,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 16 0 0 19 8 29.6296 KRTAP4-11 0 genome.wustl.edu 37 17 39274343 39274343 + Silent SNP A A G TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 17 39274343 39274343 A G SNP KRTAP4-11 ENST00000391413 human ensembl 74_37 -1 known silent c.225 p.C75 0.188 NULL pfam_Keratin-assoc - no_errors KRTAP4-11 HGNC ENSG00000212721 51 0 0 53 3 5.35714 ZNF521 0 genome.wustl.edu 37 18 22807194 22807194 + Missense_Mutation SNP C C G TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 18 22807194 22807194 C G SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.688 p.G230R 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 20 0 0 20 3 13.0435 UPF1 0 genome.wustl.edu 37 19 18956872 18956872 + Missense_Mutation SNP C C G TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 19 18956872 18956872 C G SNP UPF1 ENST00000599848 human ensembl 74_37 +1 known missense c.315 p.F105L 0.977 NULL pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase - no_errors UPF1 HGNC ENSG00000005007 53 0 0 41 4 8.88889 RHPN2 0 genome.wustl.edu 37 19 33490564 33490564 + Missense_Mutation SNP G G T TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 19 33490564 33490564 G T SNP RHPN2 ENST00000254260 human ensembl 74_37 -1 known missense c.1153 p.L385I 1.000 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom - no_errors RHPN2 HGNC ENSG00000131941 29 0 0 22 4 15.3846 SEC1P 0 genome.wustl.edu 37 19 49183667 49183667 + RNA SNP G G A TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 19 49183667 49183667 G A SNP SEC1P ENST00000430145 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SEC1P HGNC ENSG00000232871 26 0 0 27 4 12.9032 DENND1C 0 genome.wustl.edu 37 19 6467600 6467600 + Missense_Mutation SNP G G T TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 19 6467600 6467600 G T SNP DENND1C ENST00000381480 human ensembl 74_37 -1 known missense c.2321 p.P774H 0.000 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 DENND1C HGNC ENSG00000205744 19 0 0 24 2 7.69231 LPPR3 0 genome.wustl.edu 37 19 815788 815788 + Missense_Mutation SNP G G A TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 19 815788 815788 G A SNP LPPR3 ENST00000359894 human ensembl 74_37 -1 known missense c.139 p.P47S 1.000 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR3 Uniprot_gn ENSG00000129951 32 0 0 30 3 9.09091 GPR39 0 genome.wustl.edu 37 2 133174712 133174712 + Missense_Mutation SNP C C G TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 2 133174712 133174712 C G SNP GPR39 ENST00000329321 human ensembl 74_37 +1 known missense c.97 p.L33V 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR39 HGNC ENSG00000183840 35 0 0 29 4 12.1212 TOMM34 0 genome.wustl.edu 37 20 43572195 43572195 + Missense_Mutation SNP G G T TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 20 43572195 43572195 G T SNP TOMM34 ENST00000372813 human ensembl 74_37 -1 known missense c.724 p.Q242K 1.000 pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TOMM34 HGNC ENSG00000025772 36 0 0 46 4 8 TEKT4P2 0 genome.wustl.edu 37 21 9907198 9907198 + RNA SNP C C T TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 21 9907198 9907198 C T SNP TEKT4P2 ENST00000416067 human ensembl 74_37 -1 known rna NULL NULL 0.017 - - - no_errors TEKT4P2 HGNC ENSG00000188681 16 0 0 9 3 25 PHLDB2 0 genome.wustl.edu 37 3 111692580 111692580 + Silent SNP C C T TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 3 111692580 111692580 C T SNP PHLDB2 ENST00000393925 human ensembl 74_37 +1 known silent c.3537 p.D1179 0.999 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 29 0 0 19 3 13.6364 PIK3CB 0 genome.wustl.edu 37 3 138374293 138374293 + Missense_Mutation SNP C C T TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 3 138374293 138374293 C T SNP PIK3CB ENST00000289153 human ensembl 74_37 -1 known missense c.3151 p.E1051K 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CB HGNC ENSG00000051382 37 0 0 29 7 19.4444 ITIH1 0 genome.wustl.edu 37 3 52819116 52819116 + Silent SNP C C T TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 3 52819116 52819116 C T SNP ITIH1 ENST00000273283 human ensembl 74_37 +1 known silent c.1464 p.P488 0.225 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH1 HGNC ENSG00000055957 77 0 0 52 5 8.77193 PCDHB12 0 genome.wustl.edu 37 5 140588900 140588900 + Missense_Mutation SNP G G C TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 5 140588900 140588900 G C SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known missense c.421 p.E141Q 0.895 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 65 0 0 55 6 9.83607 TTBK1 0 genome.wustl.edu 37 6 43214429 43214429 + Missense_Mutation SNP G G A TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 6 43214429 43214429 G A SNP TTBK1 ENST00000259750 human ensembl 74_37 +1 known missense c.31 p.E11K 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTBK1 HGNC ENSG00000146216 36 0 0 21 4 16 COL12A1 0 genome.wustl.edu 37 6 75884763 75884763 + Missense_Mutation SNP T T C TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 6 75884763 75884763 T C SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.2701 p.T901A 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 63 0 0 46 6 11.5385 COL28A1 0 genome.wustl.edu 37 7 7412686 7412686 + Silent SNP G G A TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 7 7412686 7412686 G A SNP COL28A1 ENST00000399429 human ensembl 74_37 -1 known silent c.2851 p.L951 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m - no_errors COL28A1 HGNC ENSG00000215018 34 0 0 29 4 12.1212 RIMS2 0 genome.wustl.edu 37 8 105257239 105257239 + Nonsense_Mutation SNP C C T TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 8 105257239 105257239 C T SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known nonsense c.3430 p.R1144* 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 89 0 0 49 12 19.6721 PHYHIP 0 genome.wustl.edu 37 8 22079030 22079030 + Missense_Mutation SNP G G A TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 8 22079030 22079030 G A SNP PHYHIP ENST00000454243 human ensembl 74_37 -1 known missense c.829 p.R277C 1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PHYHIP HGNC ENSG00000168490 43 0 0 40 6 13.0435 COL5A1 0 genome.wustl.edu 37 9 137622102 137622102 + Silent SNP G G A TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 9 137622102 137622102 G A SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known silent c.945 p.T315 0.111 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 77 0 0 58 8 12.1212 AQP7 0 genome.wustl.edu 37 9 33386510 33386510 + Missense_Mutation SNP C C T TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 9 33386510 33386510 C T SNP AQP7 ENST00000297988 human ensembl 74_37 -1 known missense c.298 p.A100T 0.005 pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_3,tigrfam_MIP - no_errors AQP7 HGNC ENSG00000165269 10 0 0 9 5 35.7143 AQP7 0 genome.wustl.edu 37 9 33386511 33386511 + Silent SNP A A G TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 9 33386511 33386511 A G SNP AQP7 ENST00000297988 human ensembl 74_37 -1 known silent c.297 p.F99 0.013 pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_3,tigrfam_MIP - no_errors AQP7 HGNC ENSG00000165269 10 0 0 9 5 35.7143 FAM74A3 0 genome.wustl.edu 37 9 40715944 40715944 + RNA SNP A A G TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 9 40715944 40715944 A G SNP FAM74A3 ENST00000355345 human ensembl 74_37 +1 known rna NULL NULL 0.987 - - - no_errors FAM74A3 HGNC ENSG00000204844 13 0 0 7 4 36.3636 IPPK 0 genome.wustl.edu 37 9 95396678 95396678 + Missense_Mutation SNP G G A TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 9 95396678 95396678 G A SNP IPPK ENST00000287996 human ensembl 74_37 -1 known missense c.1160 p.A387V 0.991 pfam_Ins_P5_2-kin pfam_Ins_P5_2-kin - no_errors IPPK HGNC ENSG00000127080 28 0 0 27 3 10 RDX 0 genome.wustl.edu 37 11 110106855 110106855 + Frame_Shift_Del DEL T T - TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 11 110106855 110106855 T - DEL RDX ENST00000530749 human ensembl 74_37 -1 known frame_shift_del c.1313 p.K438fs 1.000 pirsf_ERM,pfam_ERM_C_dom,superfamily_Adenylate_cyclase-assoc_CAP_N pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors RDX HGNC ENSG00000137710 40 0 0 24 2 7.69231 CCDC90B 0 genome.wustl.edu 37 11 82984771 82984771 + Frame_Shift_Del DEL A A - TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 11 82984771 82984771 A - DEL CCDC90B ENST00000529073 human ensembl 74_37 -1 putative frame_shift_del c.479 p.L160fs 0.846 pfam_DUF1640 pfam_DUF1640 - no_errors CCDC90B HGNC ENSG00000137500 12 0 0 6 2 25 ARID1B 0 genome.wustl.edu 37 6 157100396 157100397 + In_Frame_Ins INS - - CGC TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 6 157100396 157100397 - CGC INS ARID1B ENST00000367148 human ensembl 74_37 +1 known in_frame_ins c.1333_1334 p.449in_frame_insP 1.000:1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 9 0 0 9 2 18.1818 PRKDC 0 genome.wustl.edu 37 8 48689477 48689477 + Frame_Shift_Del DEL T T - TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 8 48689477 48689477 T - DEL PRKDC ENST00000314191 human ensembl 74_37 -1 known frame_shift_del c.12107 p.N4036fs 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 28 0 0 17 2 10.5263