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 TCHH 0 genome.wustl.edu 37 1 152084187 152084187 + Silent SNP C C T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 1 152084187 152084187 C T SNP TCHH ENST00000368804 human ensembl 74_37 -1 known silent c.1506 p.R502 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 151 1 0.657895 214 12 5.30973 CRABP2 0 genome.wustl.edu 37 1 156675185 156675185 + Missense_Mutation SNP T T A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 1 156675185 156675185 T A SNP CRABP2 ENST00000368221 human ensembl 74_37 -1 known missense c.54 p.E18D 0.436 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors CRABP2 HGNC ENSG00000143320 171 0 0 100 42 29.5775 CROCC 0 genome.wustl.edu 37 1 17250856 17250856 + Missense_Mutation SNP C C T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 1 17250856 17250856 C T SNP CROCC ENST00000375541 human ensembl 74_37 +1 known missense c.233 p.S78L 0.962 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC ENSG00000058453 61 0 0 53 13 19.697 SYT14 0 genome.wustl.edu 37 1 210329223 210329223 + Missense_Mutation SNP A A C TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 1 210329223 210329223 A C SNP SYT14 ENST00000422431 human ensembl 74_37 +1 known missense c.1457 p.H486P 1.000 superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT14 HGNC ENSG00000143469 75 0 0 56 17 23.2877 KCNH1 0 genome.wustl.edu 37 1 211192300 211192300 + Missense_Mutation SNP A A T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 1 211192300 211192300 A T SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known missense c.857 p.L286H 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 119 0 0 94 29 23.5772 ZBTB40 0 genome.wustl.edu 37 1 22828817 22828817 + Missense_Mutation SNP G G T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 1 22828817 22828817 G T SNP ZBTB40 ENST00000375647 human ensembl 74_37 +1 known missense c.1050 p.L350F 1.000 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 ZBTB40 HGNC ENSG00000184677 49 0 0 32 15 31.9149 GJC2 0 genome.wustl.edu 37 1 228346653 228346653 + Silent SNP C C G TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 1 228346653 228346653 C G SNP GJC2 ENST00000366714 human ensembl 74_37 +1 known silent c.1194 p.T398 0.048 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJC2 HGNC ENSG00000198835 16 0 0 22 5 18.5185 FAM213B 0 genome.wustl.edu 37 1 2520061 2520061 + Missense_Mutation SNP A A C TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 1 2520061 2520061 A C SNP FAM213B ENST00000419916 human ensembl 74_37 +1 known missense c.547 p.K183Q 1.000 NULL superfamily_Thioredoxin-like_fold - no_errors FAM213B HGNC ENSG00000157870 154 0 0 131 43 24.7126 ZSCAN20 0 genome.wustl.edu 37 1 33960894 33960894 + Missense_Mutation SNP G G A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 1 33960894 33960894 G A SNP ZSCAN20 ENST00000361328 human ensembl 74_37 +1 known missense c.2950 p.E984K 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN20 HGNC ENSG00000121903 84 0 0 59 11 15.7143 PODN 0 genome.wustl.edu 37 1 53544289 53544289 + Silent SNP C C T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 1 53544289 53544289 C T SNP PODN ENST00000312553 human ensembl 74_37 +1 known silent c.1251 p.N417 0.924 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors PODN HGNC ENSG00000174348 119 0 0 128 12 8.57143 CHD5 0 genome.wustl.edu 37 1 6202574 6202574 + Missense_Mutation SNP C C T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 1 6202574 6202574 C T SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known missense c.2135 p.R712H 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,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 CHD5 HGNC ENSG00000116254 90 0 0 70 24 25.5319 PDE4B 0 genome.wustl.edu 37 1 66821300 66821300 + Silent SNP T T C TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 1 66821300 66821300 T C SNP PDE4B ENST00000329654 human ensembl 74_37 +1 known silent c.838 p.L280 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4B HGNC ENSG00000184588 41 0 0 20 5 20 MCOLN3 0 genome.wustl.edu 37 1 85510984 85510984 + Silent SNP G G A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 1 85510984 85510984 G A SNP MCOLN3 ENST00000370589 human ensembl 74_37 -1 known silent c.60 p.C20 0.267 NULL pfam_PKD1_2_channel - no_errors MCOLN3 HGNC ENSG00000055732 51 0 0 48 20 29.4118 COL17A1 0 genome.wustl.edu 37 10 105794506 105794506 + Silent SNP G G A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 10 105794506 105794506 G A SNP COL17A1 ENST00000353479 human ensembl 74_37 -1 known silent c.3639 p.I1213 0.269 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 26 0 0 19 6 24 ADD3 0 genome.wustl.edu 37 10 111885521 111885521 + RNA SNP C C T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 10 111885521 111885521 C T SNP ADD3 ENST00000488799 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ADD3 HGNC ENSG00000148700 31 0 0 15 8 34.7826 CHST15 0 genome.wustl.edu 37 10 125804385 125804385 + Silent SNP A A G TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 10 125804385 125804385 A G SNP CHST15 ENST00000346248 human ensembl 74_37 -1 known silent c.597 p.C199 0.993 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors CHST15 HGNC ENSG00000182022 51 0 0 62 7 10.1449 KIAA1217 0 genome.wustl.edu 37 10 24832059 24832059 + Nonsense_Mutation SNP C C A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 10 24832059 24832059 C A SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known nonsense c.3860 p.S1287* 0.003 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 74 0 0 40 19 32.2034 FRMPD2 0 genome.wustl.edu 37 10 49482599 49482599 + Silent SNP T T C TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 10 49482599 49482599 T C SNP FRMPD2 ENST00000374201 human ensembl 74_37 -1 known silent c.12 p.L4 0.007 NULL pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 123 0 0 102 40 28.169 SAR1A 0 genome.wustl.edu 37 10 71921335 71921335 + RNA SNP C C T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 10 71921335 71921335 C T SNP SAR1A ENST00000477464 human ensembl 74_37 -1 known rna NULL NULL 0.362 - - - no_errors SAR1A HGNC ENSG00000079332 49 0 0 26 17 39.5349 ADAMTS8 0 genome.wustl.edu 37 11 130289118 130289118 + Missense_Mutation SNP T T C TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 11 130289118 130289118 T C SNP ADAMTS8 ENST00000257359 human ensembl 74_37 -1 known missense c.790 p.N264D 0.998 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS8,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS8 HGNC ENSG00000134917 192 0 0 167 14 7.73481 TUT1 0 genome.wustl.edu 37 11 62342958 62342958 + Missense_Mutation SNP C C T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 11 62342958 62342958 C T SNP TUT1 ENST00000308436 human ensembl 74_37 -1 known missense c.2347 p.A783T 0.000 NULL pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC ENSG00000149016 130 0 0 104 51 32.9032 FAT3 0 genome.wustl.edu 37 11 92088531 92088531 + Missense_Mutation SNP G G A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 11 92088531 92088531 G A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.3253 p.G1085S 1.000 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 79 0 0 47 6 11.3208 OVCH1 0 genome.wustl.edu 37 12 29614836 29614836 + Missense_Mutation SNP T T G TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 12 29614836 29614836 T G SNP OVCH1 ENST00000318184 human ensembl 74_37 -1 known missense c.2231 p.K744T 0.080 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors OVCH1 HGNC ENSG00000187950 122 0 0 79 5 5.95238 OR11H6 0 genome.wustl.edu 37 14 20692369 20692369 + Nonsense_Mutation SNP G G A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 14 20692369 20692369 G A SNP OR11H6 ENST00000315519 human ensembl 74_37 +1 known nonsense c.501 p.W167* 1.000 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 OR11H6 HGNC ENSG00000176219 85 0 0 43 18 29.5082 CHD8 0 genome.wustl.edu 37 14 21883749 21883749 + Missense_Mutation SNP C C T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 14 21883749 21883749 C T SNP CHD8 ENST00000399982 human ensembl 74_37 -1 known missense c.1952 p.R651Q 1.000 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 82 0 0 64 4 5.88235 TMEM229B 0 genome.wustl.edu 37 14 67940343 67940343 + Missense_Mutation SNP C C T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 14 67940343 67940343 C T SNP TMEM229B ENST00000357461 human ensembl 74_37 -1 known missense c.298 p.A100T 1.000 pfam_DUF1113_TMEM229 pfam_DUF1113_TMEM229 - no_errors TMEM229B HGNC ENSG00000198133 9 0 0 10 6 37.5 DIO2 0 genome.wustl.edu 37 14 80677629 80677629 + Missense_Mutation SNP C C T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 14 80677629 80677629 C T SNP DIO2 ENST00000422005 human ensembl 74_37 -1 known missense c.187 p.V63I 1.000 pfam_Iodothyronine_deiodinase pfam_Iodothyronine_deiodinase - no_errors DIO2 HGNC ENSG00000211448 53 0 0 25 18 41.8605 DNM1P46 0 genome.wustl.edu 37 15 100340097 100340097 + RNA SNP C C T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 15 100340097 100340097 C T SNP DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 0.994 - - - no_errors DNM1P46 HGNC ENSG00000182397 22 0 0 25 5 16.6667 TRPM1 0 genome.wustl.edu 37 15 31334372 31334372 + Silent SNP G G A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 15 31334372 31334372 G A SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known silent c.1920 p.D640 0.903 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 40 0 0 36 3 7.69231 METTL9 0 genome.wustl.edu 37 16 21629391 21629391 + Missense_Mutation SNP T T A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 16 21629391 21629391 T A SNP METTL9 ENST00000358154 human ensembl 74_37 +1 known missense c.562 p.Y188N 1.000 pfam_DREV_MeTrfase,pfam_Methyltransf_12,pfam_Methyltransf_11 pfam_DREV_MeTrfase,pfam_Methyltransf_12,pfam_Methyltransf_11 - no_errors METTL9 HGNC ENSG00000197006 80 0 0 63 4 5.97015 VWA3A 0 genome.wustl.edu 37 16 22155629 22155629 + Missense_Mutation SNP A A G TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 16 22155629 22155629 A G SNP VWA3A ENST00000389398 human ensembl 74_37 +1 known missense c.2654 p.N885S 0.894 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3A HGNC ENSG00000175267 51 0 0 34 3 8.10811 TRIM16L 0 genome.wustl.edu 37 17 18638508 18638508 + Missense_Mutation SNP C C A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 17 18638508 18638508 C A SNP TRIM16L ENST00000395902 human ensembl 74_37 +1 known missense c.944 p.T315K 0.730 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY - no_errors TRIM16L HGNC ENSG00000108448 112 0 0 110 40 26.6667 ALDH3A1 0 genome.wustl.edu 37 17 19643782 19643782 + Silent SNP G G A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 17 19643782 19643782 G A SNP ALDH3A1 ENST00000225740 human ensembl 74_37 -1 known silent c.816 p.Y272 0.033 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3A1 HGNC ENSG00000108602 134 0 0 103 33 24.2647 CORO6 0 genome.wustl.edu 37 17 27943176 27943176 + Silent SNP G G A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 17 27943176 27943176 G A SNP CORO6 ENST00000345068 human ensembl 74_37 -1 known silent c.1080 p.D360 0.995 pfam_DUF1900 pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO6 HGNC ENSG00000167549 54 0 0 36 5 12.1951 ATAD5 0 genome.wustl.edu 37 17 29219667 29219667 + Missense_Mutation SNP G G C TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 17 29219667 29219667 G C SNP ATAD5 ENST00000321990 human ensembl 74_37 +1 known missense c.4301 p.G1434A 0.002 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 89 0 0 53 31 36.9048 KRT28 0 genome.wustl.edu 37 17 38954584 38954584 + Missense_Mutation SNP C C T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 17 38954584 38954584 C T SNP KRT28 ENST00000306658 human ensembl 74_37 -1 known missense c.593 p.R198Q 0.991 pfam_IF,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT28 HGNC ENSG00000173908 109 0 0 103 34 24.8175 EZH1 0 genome.wustl.edu 37 17 40870044 40870044 + Missense_Mutation SNP C C T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 17 40870044 40870044 C T SNP EZH1 ENST00000428826 human ensembl 74_37 -1 known missense c.973 p.E325K 1.000 NULL pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH1 HGNC ENSG00000108799 40 0 0 29 9 23.6842 KIF19 0 genome.wustl.edu 37 17 72346598 72346598 + Missense_Mutation SNP G G T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 17 72346598 72346598 G T SNP KIF19 ENST00000389916 human ensembl 74_37 +1 known missense c.1272 p.E424D 0.999 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF19 HGNC ENSG00000196169 24 0 0 21 3 12.5 DNAH17-AS1 0 genome.wustl.edu 37 17 76496420 76496420 + Missense_Mutation SNP G G A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 17 76496420 76496420 G A SNP DNAH17-AS1 ENST00000598378 human ensembl 74_37 +1 known missense c.352 p.V118I 0.998 NULL NULL - no_errors DNAH17-AS1 HGNC ENSG00000268470 24 0 0 14 8 36.3636 ENGASE 0 genome.wustl.edu 37 17 77082045 77082045 + Silent SNP C C T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 17 77082045 77082045 C T SNP ENGASE ENST00000579016 human ensembl 74_37 +1 known silent c.1846 p.L616 0.022 NULL pfam_Glyco_hydro_85,pfscan_BRCT_dom - no_errors ENGASE HGNC ENSG00000167280 62 0 0 57 13 18.5714 STX8 0 genome.wustl.edu 37 17 9471725 9471725 + Missense_Mutation SNP C C T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 17 9471725 9471725 C T SNP STX8 ENST00000306357 human ensembl 74_37 -1 known missense c.80 p.R27Q 0.997 NULL pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX8 HGNC ENSG00000170310 30 0 0 21 13 38.2353 KATNAL2 0 genome.wustl.edu 37 18 44627365 44627365 + Missense_Mutation SNP G G A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 18 44627365 44627365 G A SNP KATNAL2 ENST00000245121 human ensembl 74_37 +1 known missense c.1390 p.E464K 1.000 NULL pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors KATNAL2 HGNC ENSG00000167216 49 0 0 28 13 31.7073 DSEL 0 genome.wustl.edu 37 18 65179255 65179255 + Missense_Mutation SNP C C T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 18 65179255 65179255 C T SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.2621 p.G874E 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 248 0 0 170 56 24.7788 ELL 0 genome.wustl.edu 37 19 18561438 18561438 + Silent SNP C C T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 19 18561438 18561438 C T SNP ELL ENST00000262809 human ensembl 74_37 -1 known silent c.1314 p.R438 0.172 NULL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL HGNC ENSG00000105656 16 0 0 12 6 33.3333 ZNF737 0 genome.wustl.edu 37 19 20735356 20735356 + Missense_Mutation SNP C C A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 19 20735356 20735356 C A SNP ZNF737 ENST00000427401 human ensembl 74_37 -1 known missense c.151 p.D51Y 0.073 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF737 HGNC ENSG00000237440 81 0 0 45 9 16.6667 DOT1L 0 genome.wustl.edu 37 19 2217887 2217887 + Silent SNP C C T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 19 2217887 2217887 C T SNP DOT1L ENST00000398665 human ensembl 74_37 +1 known silent c.2661 p.S887 0.997 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 25 0 0 21 8 27.5862 ZNF729 0 genome.wustl.edu 37 19 22497338 22497338 + Missense_Mutation SNP G G T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 19 22497338 22497338 G T SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel missense c.1119 p.E373D 0.994 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 ZNF729 HGNC ENSG00000196350 67 0 0 29 8 21.6216 ATP4A 0 genome.wustl.edu 37 19 36050082 36050082 + Silent SNP G G A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 19 36050082 36050082 G A SNP ATP4A ENST00000262623 human ensembl 74_37 -1 known silent c.1068 p.S356 0.959 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP4A HGNC ENSG00000105675 207 0 0 116 59 33.7143 ZNF382 0 genome.wustl.edu 37 19 37117675 37117675 + Missense_Mutation SNP A A C TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 19 37117675 37117675 A C SNP ZNF382 ENST00000292928 human ensembl 74_37 +1 known missense c.876 p.E292D 0.996 NULL 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 ZNF382 HGNC ENSG00000161298 163 0 0 123 22 15.1724 ZNF383 0 genome.wustl.edu 37 19 37734283 37734283 + Missense_Mutation SNP G G A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 19 37734283 37734283 G A SNP ZNF383 ENST00000352998 human ensembl 74_37 +1 known missense c.1145 p.R382H 0.001 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 ZNF383 HGNC ENSG00000188283 99 0 0 49 18 26.8657 LIG1 0 genome.wustl.edu 37 19 48624487 48624487 + Silent SNP G G A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 19 48624487 48624487 G A SNP LIG1 ENST00000263274 human ensembl 74_37 -1 known silent c.2325 p.Y775 0.953 pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep 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 145 0 0 123 47 27.6471 ALDH16A1 0 genome.wustl.edu 37 19 49967996 49967996 + Silent SNP G G A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 19 49967996 49967996 G A SNP ALDH16A1 ENST00000293350 human ensembl 74_37 +1 known silent c.1545 p.P515 0.000 superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH - no_errors ALDH16A1 HGNC ENSG00000161618 277 0 0 198 69 25.8427 KLK1 0 genome.wustl.edu 37 19 51322476 51322476 + Missense_Mutation SNP C C T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 19 51322476 51322476 C T SNP KLK1 ENST00000301420 human ensembl 74_37 -1 known missense c.763 p.E255K 0.001 superfamily_Trypsin-like_Pept_dom,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors KLK1 HGNC ENSG00000167748 99 0 0 78 26 25 NLRP4 0 genome.wustl.edu 37 19 56369527 56369527 + Silent SNP G G A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 19 56369527 56369527 G A SNP NLRP4 ENST00000301295 human ensembl 74_37 +1 known silent c.768 p.P256 0.000 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC ENSG00000160505 142 1 0.699301 108 31 22.3022 ZNF416 0 genome.wustl.edu 37 19 58084322 58084322 + Missense_Mutation SNP T T C TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 19 58084322 58084322 T C SNP ZNF416 ENST00000196489 human ensembl 74_37 -1 known missense c.950 p.H317R 0.564 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 ZNF416 HGNC ENSG00000083817 84 0 0 43 20 31.746 A1BG-AS1 0 genome.wustl.edu 37 19 58864711 58864711 + RNA SNP G G A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 19 58864711 58864711 G A SNP A1BG-AS1 ENST00000593374 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors A1BG-AS1 HGNC ENSG00000268895 26 0 0 27 9 25 LRP1B 0 genome.wustl.edu 37 2 141272252 141272252 + Missense_Mutation SNP C C T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 2 141272252 141272252 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.8239 p.D2747N 0.577 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 114 0 0 66 15 18.5185 CPS1 0 genome.wustl.edu 37 2 211540487 211540487 + Silent SNP C C T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 2 211540487 211540487 C T SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known silent c.4215 p.N1405 0.993 pfam_MGS-like_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 88 0 0 45 22 32.8358 TNS1 0 genome.wustl.edu 37 2 218712774 218712774 + Silent SNP C C T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 2 218712774 218712774 C T SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known silent c.2091 p.P697 0.037 NULL 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_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 76 0 0 52 11 17.4603 SLC4A1AP 0 genome.wustl.edu 37 2 27887266 27887266 + Missense_Mutation SNP G G C TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 2 27887266 27887266 G C SNP SLC4A1AP ENST00000326019 human ensembl 74_37 +1 known missense c.647 p.R216T 1.000 pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom pfam_FHA_dom,pfam_dsRNA-bd_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors SLC4A1AP HGNC ENSG00000163798 66 0 0 69 26 27.3684 SIRPB1 0 genome.wustl.edu 37 20 1552595 1552595 + Missense_Mutation SNP G G T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 20 1552595 1552595 G T SNP SIRPB1 ENST00000381605 human ensembl 74_37 -1 known missense c.522 p.F174L 0.996 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors SIRPB1 HGNC ENSG00000101307 128 0 0 142 43 23.2432 OVOL2 0 genome.wustl.edu 37 20 18005465 18005465 + Missense_Mutation SNP C C T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 20 18005465 18005465 C T SNP OVOL2 ENST00000278780 human ensembl 74_37 -1 known missense c.643 p.V215I 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OVOL2 HGNC ENSG00000125850 52 0 0 64 22 25.5814 E2F1 0 genome.wustl.edu 37 20 32265097 32265097 + Missense_Mutation SNP C C T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 20 32265097 32265097 C T SNP E2F1 ENST00000343380 human ensembl 74_37 -1 known missense c.880 p.D294N 1.000 NULL pfam_E2F_TDP - no_errors E2F1 HGNC ENSG00000101412 64 0 0 61 15 19.7368 KCNB1 0 genome.wustl.edu 37 20 47991181 47991181 + Missense_Mutation SNP G G A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 20 47991181 47991181 G A SNP KCNB1 ENST00000371741 human ensembl 74_37 -1 known missense c.916 p.R306C 1.000 pfam_Ion_trans_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB1 HGNC ENSG00000158445 81 0 0 83 23 21.6981 ARFRP1 0 genome.wustl.edu 37 20 62331989 62331989 + Silent SNP T T G TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 20 62331989 62331989 T G SNP ARFRP1 ENST00000324228 human ensembl 74_37 -1 known silent c.483 p.R161 0.151 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_Gprotein_alpha_su,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom - no_errors ARFRP1 HGNC ENSG00000101246 32 0 0 58 6 9.375 SCAF4 0 genome.wustl.edu 37 21 33065757 33065757 + Nonsense_Mutation SNP G G A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 21 33065757 33065757 G A SNP SCAF4 ENST00000286835 human ensembl 74_37 -1 known nonsense c.1363 p.R455* 0.991 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 63 0 0 31 13 29.5455 SUSD2 0 genome.wustl.edu 37 22 24581841 24581841 + Missense_Mutation SNP G G T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 22 24581841 24581841 G T SNP SUSD2 ENST00000358321 human ensembl 74_37 +1 known missense c.1283 p.R428L 1.000 pfam_AMOP,smart_AMOP,pfscan_AMOP pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Sushi_SCR_CCP,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD2 HGNC ENSG00000099994 23 0 0 13 5 27.7778 SERHL2 0 genome.wustl.edu 37 22 42951058 42951058 + Missense_Mutation SNP G G A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 22 42951058 42951058 G A SNP SERHL2 ENST00000327678 human ensembl 74_37 +1 known missense c.137 p.S46N 1.000 NULL pfam_AB_hydrolase_1,prints_AB_hydrolase_1 - no_errors SERHL2 HGNC ENSG00000183569 16 0 0 12 4 25 ARHGAP31 0 genome.wustl.edu 37 3 119087339 119087339 + Silent SNP T T G TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 3 119087339 119087339 T G SNP ARHGAP31 ENST00000264245 human ensembl 74_37 +1 known silent c.324 p.T108 0.892 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 70 0 0 46 17 26.9841 CP 0 genome.wustl.edu 37 3 148897410 148897410 + Missense_Mutation SNP G G A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 3 148897410 148897410 G A SNP CP ENST00000264613 human ensembl 74_37 -1 known missense c.2594 p.S865F 1.000 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin - no_errors CP HGNC ENSG00000047457 42 0 0 43 22 33.8462 CP 0 genome.wustl.edu 37 3 148897421 148897421 + Missense_Mutation SNP G G C TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 3 148897421 148897421 G C SNP CP ENST00000264613 human ensembl 74_37 -1 known missense c.2583 p.I861M 1.000 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin - no_errors CP HGNC ENSG00000047457 41 0 0 40 20 33.3333 GHSR 0 genome.wustl.edu 37 3 172165518 172165518 + Missense_Mutation SNP G G A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 3 172165518 172165518 G A SNP GHSR ENST00000241256 human ensembl 74_37 -1 known missense c.686 p.T229M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS-R,prints_GPCR_Rhodpsn - no_errors GHSR HGNC ENSG00000121853 79 0 0 82 54 39.7059 PIK3CA 0 genome.wustl.edu 37 3 178928079 178928079 + Missense_Mutation SNP G G A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 3 178928079 178928079 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1357 p.E453K 1.000 pfam_PI3K_C2_dom,superfamily_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,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 PIK3CA HGNC ENSG00000121879 92 0 0 61 72 54.1353 PIK3CA 0 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,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 PIK3CA HGNC ENSG00000121879 51 0 0 32 39 54.9296 CDCP1 0 genome.wustl.edu 37 3 45152099 45152099 + Missense_Mutation SNP A A G TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 3 45152099 45152099 A G SNP CDCP1 ENST00000296129 human ensembl 74_37 -1 known missense c.890 p.L297P 0.842 NULL superfamily_CUB_dom - no_errors CDCP1 HGNC ENSG00000163814 184 0 0 120 46 27.7108 CELSR3 0 genome.wustl.edu 37 3 48696662 48696662 + Nonsense_Mutation SNP G G A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 3 48696662 48696662 G A SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known nonsense c.3406 p.Q1136* 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,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 CELSR3 HGNC ENSG00000008300 96 0 0 97 28 22.4 PRDM5 0 genome.wustl.edu 37 4 121702362 121702362 + Missense_Mutation SNP T T G TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 4 121702362 121702362 T G SNP PRDM5 ENST00000264808 human ensembl 74_37 -1 known missense c.1379 p.K460T 1.000 pirsf_Znf_PRDM5,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM5 HGNC ENSG00000138738 89 0 0 52 20 27.7778 FAT4 0 genome.wustl.edu 37 4 126389829 126389829 + Missense_Mutation SNP A A G TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 4 126389829 126389829 A G SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.12062 p.D4021G 0.999 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G 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 101 0 0 62 32 34.0426 PCDH10 0 genome.wustl.edu 37 4 134072673 134072673 + Missense_Mutation SNP G G A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 4 134072673 134072673 G A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.1378 p.A460T 1.000 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 PCDH10 HGNC ENSG00000138650 174 0 0 177 77 30.315 DCHS2 0 genome.wustl.edu 37 4 155254497 155254497 + Missense_Mutation SNP C C T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 4 155254497 155254497 C T SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.1366 p.G456S 0.513 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 103 0 0 111 33 22.9167 FGA 0 genome.wustl.edu 37 4 155507816 155507816 + Silent SNP C C T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 4 155507816 155507816 C T SNP FGA ENST00000302053 human ensembl 74_37 -1 known silent c.765 p.P255 0.658 NULL pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGA HGNC ENSG00000171560 162 1 0.613497 140 40 22.2222 MAP9 0 genome.wustl.edu 37 4 156294393 156294393 + Missense_Mutation SNP C C A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 4 156294393 156294393 C A SNP MAP9 ENST00000311277 human ensembl 74_37 -1 known missense c.376 p.V126L 0.000 NULL NULL - no_errors MAP9 HGNC ENSG00000164114 71 0 0 46 25 35.2113 MIR218-1 0 genome.wustl.edu 37 4 20529995 20529995 + RNA SNP G G A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 4 20529995 20529995 G A SNP MIR218-1 ENST00000384999 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR218-1 HGNC ENSG00000207732 50 0 0 38 15 28.3019 PDGFRA 0 genome.wustl.edu 37 4 55161419 55161419 + Missense_Mutation SNP G G A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 4 55161419 55161419 G A SNP PDGFRA ENST00000257290 human ensembl 74_37 +1 known missense c.3250 p.V1084M 1.000 NULL pirsf_Tyr_kinase_CSF1/PDGF_rcpt,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 - no_errors PDGFRA HGNC ENSG00000134853 150 0 0 133 9 6.33803 EVC 0 genome.wustl.edu 37 4 5798905 5798905 + Missense_Mutation SNP G G T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 4 5798905 5798905 G T SNP EVC ENST00000264956 human ensembl 74_37 +1 known missense c.2043 p.E681D 1.000 NULL NULL - no_errors EVC HGNC ENSG00000072840 37 0 0 36 14 28 PCDHB6 0 genome.wustl.edu 37 5 140530585 140530585 + Silent SNP A A G TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 5 140530585 140530585 A G SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known silent c.747 p.Q249 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 69 0 0 71 4 5.33333 GABRA6 0 genome.wustl.edu 37 5 161128646 161128646 + Missense_Mutation SNP C C A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 5 161128646 161128646 C A SNP GABRA6 ENST00000274545 human ensembl 74_37 +1 known missense c.1229 p.A410D 0.692 superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA6 HGNC ENSG00000145863 103 0 0 76 33 30.2752 NSD1 0 genome.wustl.edu 37 5 176719013 176719013 + Missense_Mutation SNP A A T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 5 176719013 176719013 A T SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known missense c.6317 p.K2106M 1.000 superfamily_Znf_FYVE_PHD pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 44 0 0 23 3 11.5385 HNRNPAB 0 genome.wustl.edu 37 5 177637620 177637620 + Missense_Mutation SNP A A C TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 5 177637620 177637620 A C SNP HNRNPAB ENST00000358344 human ensembl 74_37 +1 known missense c.995 p.Y332S 1.000 NULL pfam_RRM_dom,pfam_CARG-binding_factor_N,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPAB HGNC ENSG00000197451 69 0 0 38 18 32.1429 CDH18 0 genome.wustl.edu 37 5 19473796 19473796 + Missense_Mutation SNP G G A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 5 19473796 19473796 G A SNP CDH18 ENST00000274170 human ensembl 74_37 -1 known missense c.1912 p.R638C 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH18 HGNC ENSG00000145526 262 0 0 181 65 26.4228 RXFP3 0 genome.wustl.edu 37 5 33936946 33936946 + Missense_Mutation SNP C C T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 5 33936946 33936946 C T SNP RXFP3 ENST00000330120 human ensembl 74_37 +1 known missense c.101 p.A34V 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 138 0 0 108 56 34.1463 IRX1 0 genome.wustl.edu 37 5 3599908 3599908 + Missense_Mutation SNP G G T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 5 3599908 3599908 G T SNP IRX1 ENST00000302006 human ensembl 74_37 +1 known missense c.846 p.L282F 0.228 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX1 HGNC ENSG00000170549 12 0 0 17 7 29.1667 HCN1 0 genome.wustl.edu 37 5 45396783 45396783 + Nonsense_Mutation SNP G G T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 5 45396783 45396783 G T SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known nonsense c.1041 p.Y347* 0.734 pfam_Ion_trans_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 99 0 0 66 21 24.1379 SEMA5A 0 genome.wustl.edu 37 5 9380056 9380056 + Missense_Mutation SNP C C T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 5 9380056 9380056 C T SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known missense c.3 p.M1I 1.000 NULL pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 100 0 0 83 32 27.8261 NUP43 0 genome.wustl.edu 37 6 150067675 150067675 + Missense_Mutation SNP A A G TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 6 150067675 150067675 A G SNP NUP43 ENST00000367403 human ensembl 74_37 -1 known missense c.140 p.V47A 0.675 NULL superfamily_WD40_repeat_dom - no_errors NUP43 HGNC ENSG00000120253 101 0 0 85 7 7.6087 GABBR1 0 genome.wustl.edu 37 6 29591798 29591798 + Missense_Mutation SNP C C A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 6 29591798 29591798 C A SNP GABBR1 ENST00000377034 human ensembl 74_37 -1 known missense c.661 p.D221Y 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Peripla_BP_I,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C - no_errors GABBR1 HGNC ENSG00000204681 60 0 0 37 14 27.451 RREB1 0 genome.wustl.edu 37 6 7230680 7230680 + Missense_Mutation SNP G G T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 6 7230680 7230680 G T SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known missense c.2348 p.G783V 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 21 0 0 34 5 12.8205 SPAM1 0 genome.wustl.edu 37 7 123594445 123594445 + Missense_Mutation SNP C C T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 7 123594445 123594445 C T SNP SPAM1 ENST00000340011 human ensembl 74_37 +1 known missense c.821 p.A274V 0.038 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors SPAM1 HGNC ENSG00000106304 106 0 0 81 25 23.5849 SSPO 0 genome.wustl.edu 37 7 149489292 149489292 + RNA SNP C C T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 7 149489292 149489292 C T SNP SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SSPO HGNC ENSG00000197558 32 0 0 30 7 18.9189 KMT2C 0 genome.wustl.edu 37 7 151878863 151878863 + Nonsense_Mutation SNP G G A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 7 151878863 151878863 G A SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known nonsense c.6082 p.R2028* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 156 0 0 92 35 27.5591 KMT2C 0 genome.wustl.edu 37 7 151970925 151970925 + Missense_Mutation SNP C C T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 7 151970925 151970925 C T SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.877 p.A293T 1.000 smart_Znf_PHD pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 111 0 0 91 10 9.90099 ZNF716 0 genome.wustl.edu 37 7 57528997 57528997 + Missense_Mutation SNP T T C TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 7 57528997 57528997 T C SNP ZNF716 ENST00000420713 human ensembl 74_37 +1 known missense c.830 p.V277A 0.876 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 ZNF716 HGNC ENSG00000182111 21 0 0 24 4 14.2857 COL1A2 0 genome.wustl.edu 37 7 94056548 94056548 + Missense_Mutation SNP C C A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 7 94056548 94056548 C A SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known missense c.3208 p.H1070N 0.931 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 37 0 0 33 6 15.3846 DPYS 0 genome.wustl.edu 37 8 105405182 105405182 + Missense_Mutation SNP A A C TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 8 105405182 105405182 A C SNP DPYS ENST00000351513 human ensembl 74_37 -1 known missense c.1273 p.F425V 1.000 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYS HGNC ENSG00000147647 122 0 0 116 28 19.4444 ZFP41 0 genome.wustl.edu 37 8 144332286 144332286 + Silent SNP G G A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 8 144332286 144332286 G A SNP ZFP41 ENST00000330701 human ensembl 74_37 +1 known silent c.273 p.E91 0.064 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP41 HGNC ENSG00000181638 134 0 0 118 34 22.3684 ADAM18 0 genome.wustl.edu 37 8 39550198 39550198 + Missense_Mutation SNP G G T TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 8 39550198 39550198 G T SNP ADAM18 ENST00000265707 human ensembl 74_37 +1 known missense c.1901 p.G634V 1.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM18 HGNC ENSG00000168619 70 0 0 40 6 13.0435 PRKDC 0 genome.wustl.edu 37 8 48743232 48743232 + Silent SNP G G A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 8 48743232 48743232 G A SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known silent c.8328 p.H2776 0.000 NULL 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 79 0 0 71 51 41.8033 FCN1 0 genome.wustl.edu 37 9 137804877 137804877 + Silent SNP G G A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 9 137804877 137804877 G A SNP FCN1 ENST00000371806 human ensembl 74_37 -1 known silent c.453 p.D151 0.987 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,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FCN1 HGNC ENSG00000085265 30 0 0 17 6 26.087 KIAA1984 0 genome.wustl.edu 37 9 139699029 139699029 + Missense_Mutation SNP A A C TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 9 139699029 139699029 A C SNP KIAA1984 ENST00000338005 human ensembl 74_37 +1 known missense c.742 p.K248Q 0.985 NULL NULL - no_errors KIAA1984 HGNC ENSG00000213213 75 0 0 44 27 38.0282 FRMD3 0 genome.wustl.edu 37 9 86004624 86004624 + Splice_Site SNP C C G TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 9 86004624 86004624 C G SNP FRMD3 ENST00000304195 human ensembl 74_37 -1 known splice_site c.148-1 e2-1 1.000 - - - no_errors FRMD3 HGNC ENSG00000172159 53 0 0 30 15 33.3333 POTEB 0 genome.wustl.edu 37 GL000213.1 108181 108181 + Missense_Mutation SNP C C A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 GL000213.1 108181 108181 C A SNP POTEB ENST00000327822 human ensembl 74_37 -1 known missense c.1600 p.A534S NULL 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 BX072566.1 Clone_based_ensembl_gene ENSG00000237375 42 0 0 18 18 50 IGSF1 0 genome.wustl.edu 37 X 130408109 130408109 + Silent SNP A A G TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 X 130408109 130408109 A G SNP IGSF1 ENST00000370903 human ensembl 74_37 -1 known silent c.3838 p.L1280 0.996 NULL pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF1 HGNC ENSG00000147255 137 0 0 57 62 52.1008 IGBP1 0 genome.wustl.edu 37 X 69366563 69366563 + Missense_Mutation SNP G G A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 X 69366563 69366563 G A SNP IGBP1 ENST00000342206 human ensembl 74_37 +1 known missense c.563 p.R188H 0.000 pfam_TAP42-like pfam_TAP42-like - no_errors IGBP1 HGNC ENSG00000089289 62 0 0 36 4 10 ATP7A 0 genome.wustl.edu 37 X 77245091 77245091 + Missense_Mutation SNP T T A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 X 77245091 77245091 T A SNP ATP7A ENST00000341514 human ensembl 74_37 +1 known missense c.973 p.S325T 0.000 pfam_HeavyMe-assoc_HMA,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,tigrfam_HMA_Cu_ion-bd pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,prints_HG_scavenger,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC ENSG00000165240 172 0 0 123 11 8.20896 GPR174 0 genome.wustl.edu 37 X 78426685 78426685 + Missense_Mutation SNP T T A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 X 78426685 78426685 T A SNP GPR174 ENST00000276077 human ensembl 74_37 +1 known missense c.181 p.L61I 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR174 HGNC ENSG00000147138 16 0 0 5 10 66.6667 LGR6 0 genome.wustl.edu 37 1 202183358 202183358 + Frame_Shift_Del DEL G G - TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 1 202183358 202183358 G - DEL LGR6 ENST00000439764 human ensembl 74_37 +1 known frame_shift_del c.76 p.A26fs 0.004 NULL pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn - no_errors LGR6 HGNC ENSG00000133067 12 0 0 10 12 54.5455 KMT2D 0 genome.wustl.edu 37 12 49431910 49431911 + Frame_Shift_Ins INS - - A TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 12 49431910 49431911 - A INS KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_ins c.9229_9228 p.N3076fs 1.000:0.996 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 58 0 0 42 16 27.5862 DNM1P46 0 genome.wustl.edu 37 15 100340123 100340125 + RNA DEL AGA AGA - TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 15 100340123 100340125 AGA - DEL DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 0.899:0.883:0.880 - - - no_errors DNM1P46 HGNC ENSG00000182397 25 0 0 30 6 16.6667 ANKFY1 0 genome.wustl.edu 37 17 4086813 4086832 + Frame_Shift_Del DEL GAGCCCAGCAGCTGGGCTGC GAGCCCAGCAGCTGGGCTGC - TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 GAGCCCAGCAGCTGGGCTGC GAGCCCAGCAGCTGGGCTGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 17 4086813 4086832 GAGCCCAGCAGCTGGGCTGC - DEL ANKFY1 ENST00000570535 human ensembl 74_37 -1 known frame_shift_del c.1958_1939 p.A647fs 0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.991:1.000:1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt - no_errors ANKFY1 HGNC ENSG00000185722 82 0 0 67 10 12.987 ME2 0 genome.wustl.edu 37 18 48422198 48422198 + Frame_Shift_Del DEL C C - TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 18 48422198 48422198 C - DEL ME2 ENST00000321341 human ensembl 74_37 +1 known frame_shift_del c.8 p.R4fs 0.999 NULL pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME2 HGNC ENSG00000082212 57 0 0 37 7 15.9091 MYBPC2 0 genome.wustl.edu 37 19 50963366 50963367 + Frame_Shift_Ins INS - - G TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 19 50963366 50963367 - G INS MYBPC2 ENST00000357701 human ensembl 74_37 +1 known frame_shift_ins c.2861_2862 p.A955fs 1.000:1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 MYBPC2 HGNC ENSG00000086967 10 0 0 6 4 40 IGSF10 0 genome.wustl.edu 37 3 151164364 151164364 + Frame_Shift_Del DEL T T - TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 3 151164364 151164364 T - DEL IGSF10 ENST00000282466 human ensembl 74_37 -1 known frame_shift_del c.3405 p.V1136fs 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 298 0 0 180 221 55.1122 SEC24A 0 genome.wustl.edu 37 5 134060780 134060783 + Frame_Shift_Del DEL AATG AATG - TCGA-BR-8676-01A-11D-2394-08 TCGA-BR-8676-10A-01D-2394-08 AATG AATG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8bb64cc8-686e-4772-a260-9c927470a90a bd265d39-285a-4bbb-9f49-08e1c80878d2 5 134060780 134060783 AATG - DEL SEC24A ENST00000398844 human ensembl 74_37 +1 known frame_shift_del c.3278_3281 p.K1093fs 1.000:1.000:1.000:1.000 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24A HGNC ENSG00000113615 38 0 0 28 4 12.5