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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ABCB8 0 genome.wustl.edu 37 7 150737592 150737592 + Missense_Mutation SNP G G A TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 7 150737592 150737592 G A SNP ABCB8 ENST00000297504 human ensembl 69_37n +1 known missense c.1310 p.R437Q 1.000 superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB8 HGNC ENSG00000197150 34 0 0.00 51 18 26.09 - - - ACTL6B 0 genome.wustl.edu 37 7 100243916 100243916 + Missense_Mutation SNP G G A TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 7 100243916 100243916 G A SNP ACTL6B ENST00000160382 human ensembl 69_37n -1 known missense c.1156 p.R386C 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL6B HGNC ENSG00000077080 58 0 0.00 37 19 33.93 - - - ANKRD44 0 genome.wustl.edu 37 2 197857433 197857433 + RNA SNP T T G TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 2 197857433 197857433 T G SNP ANKRD44 ENST00000486006 human ensembl 69_37n -1 known rna NULL NULL 0.937 - - - no_errors ANKRD44 HGNC ENSG00000065413 39 0 0.00 49 7 12.50 - - - B4GALT6 0 genome.wustl.edu 37 18 29246241 29246244 + Frame_Shift_Del DEL TTTA TTTA - TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 TTTA TTTA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 18 29246241 29246244 TTTA - DEL B4GALT6 ENST00000306851 human ensembl 69_37n -1 known frame_shift_del c.210_207 p.N69fs 1.000:1.000:1.000:0.987 NULL pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met - no_errors B4GALT6 HGNC ENSG00000118276 55 0 0.00 44 17 27.87 - - - C12orf73 0 genome.wustl.edu 37 12 104345123 104345123 + RNA SNP A A G TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 12 104345123 104345123 A G SNP C12orf73 ENST00000543740 human ensembl 69_37n -1 known rna NULL NULL 0.185 - - - no_errors C12orf73 HGNC ENSG00000204954 8 0 0.00 8 7 46.67 - - - CAMK1D 0 genome.wustl.edu 37 10 12856243 12856243 + Missense_Mutation SNP G G C TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 10 12856243 12856243 G C SNP CAMK1D ENST00000378847 human ensembl 69_37n +1 known missense c.691 p.E231Q 1.000 pfam_Prot_kinase_cat_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_cat_dom pfam_Prot_kinase_cat_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_cat_dom - no_errors CAMK1D HGNC ENSG00000183049 45 0 0.00 49 15 23.44 - - - CCDC39 0 genome.wustl.edu 37 3 180426685 180426685 + RNA SNP C C T TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 3 180426685 180426685 C T SNP CCDC39 ENST00000485055 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors CCDC39 HGNC ENSG00000145075 71 0 0.00 39 13 25.00 - - - CDH1 0 genome.wustl.edu 37 16 68845757 68845757 + Nonsense_Mutation SNP C C T TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 16 68845757 68845757 C T SNP CDH1 ENST00000261769 human ensembl 69_37n +1 known nonsense c.1003 p.R335* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 23 0 0.00 17 21 55.26 - - - CNTNAP3B 0 genome.wustl.edu 37 9 43853528 43853528 + Missense_Mutation SNP G G A TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 9 43853528 43853528 G A SNP CNTNAP3B ENST00000377561 human ensembl 69_37n +1 known missense c.1934 p.S645N 0.999 superfamily_Fibrinogen_a/b/g_C pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CNTNAP3B HGNC ENSG00000154529 59 0 0.00 62 9 12.68 - - - DMD 0 genome.wustl.edu 37 X 32482759 32482759 + Missense_Mutation SNP C C T TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 X 32482759 32482759 C T SNP DMD ENST00000357033 human ensembl 69_37n -1 known missense c.3220 p.E1074K 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 60 0 0.00 56 9 13.85 - - - DNAH12 0 genome.wustl.edu 37 3 57410762 57410762 + Missense_Mutation SNP C C T TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 3 57410762 57410762 C T SNP DNAH12 ENST00000495027 human ensembl 69_37n -1 putative missense c.5360 p.R1787H 0.999 NULL pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_stop_codon DNAH12 HGNC ENSG00000174844 41 0 0.00 30 4 11.76 - - - ECHDC3 0 genome.wustl.edu 37 10 11789358 11789358 + Silent SNP T T C TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 10 11789358 11789358 T C SNP ECHDC3 ENST00000379215 human ensembl 69_37n +1 known silent c.181 p.L61 0.998 pfam_Crotonase_core pfam_Crotonase_core - no_errors ECHDC3 HGNC ENSG00000134463 40 0 0.00 30 4 11.76 - - - EIF2AK3 0 genome.wustl.edu 37 2 88889973 88889973 + Missense_Mutation SNP T T G TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 2 88889973 88889973 T G SNP EIF2AK3 ENST00000303236 human ensembl 69_37n -1 known missense c.1153 p.S385R 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EIF2AK3 HGNC ENSG00000172071 41 0 0.00 20 6 23.08 - - - ELFN2 0 genome.wustl.edu 37 22 37769141 37769141 + Missense_Mutation SNP T T C TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 22 37769141 37769141 T C SNP ELFN2 ENST00000349653 human ensembl 69_37n -1 known missense c.2434 p.K812E 1.000 NULL superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG-motif_cell_wall_anchor - no_errors ELFN2 HGNC ENSG00000166897 58 0 0.00 46 26 36.11 - - - FAM26F 0 genome.wustl.edu 37 6 116784535 116784535 + Silent SNP G G A TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 6 116784535 116784535 G A SNP FAM26F ENST00000368605 human ensembl 69_37n +1 known silent c.615 p.L205 0.886 NULL NULL - no_errors FAM26F HGNC ENSG00000188820 81 0 0.00 63 12 16.00 - - - FLNC 0 genome.wustl.edu 37 7 128496897 128496897 + Missense_Mutation SNP C C T TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 7 128496897 128496897 C T SNP FLNC ENST00000325888 human ensembl 69_37n +1 known missense c.7483 p.R2495C 1.000 superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 47 0 0.00 38 6 13.64 - - - GIMAP8 0 genome.wustl.edu 37 7 150164191 150164191 + Silent SNP G G T TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 7 150164191 150164191 G T SNP GIMAP8 ENST00000307271 human ensembl 69_37n +1 known silent c.405 p.R135 0.006 pfam_AIG1 pfam_AIG1 - no_errors GIMAP8 HGNC ENSG00000171115 26 0 0.00 38 5 11.63 - - - GOLGA6L10 0 genome.wustl.edu 37 15 82635183 82635183 + Missense_Mutation SNP A A C TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 15 82635183 82635183 A C SNP GOLGA6L10 ENST00000439287 human ensembl 69_37n -1 known missense c.1387 p.C463G 0.264 NULL NULL - no_errors GOLGA6L10 HGNC ENSG00000205281 33 0 0.00 66 8 10.81 - - - ITIH2 0 genome.wustl.edu 37 10 7773953 7773953 + Silent SNP G G A TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 10 7773953 7773953 G A SNP ITIH2 ENST00000358415 human ensembl 69_37n +1 known silent c.1641 p.A547 0.000 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH2 HGNC ENSG00000151655 14 0 0.00 15 4 21.05 - - - KCNN3 0 genome.wustl.edu 37 1 154842330 154842330 + Silent SNP T T C TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 1 154842330 154842330 T C SNP KCNN3 ENST00000271915 human ensembl 69_37n -1 known silent c.111 p.Q37 0.893 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 40 0 0.00 84 10 10.64 - - - MASP1 0 genome.wustl.edu 37 3 186953629 186953629 + Missense_Mutation SNP C C T TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 3 186953629 186953629 C T SNP MASP1 ENST00000296280 human ensembl 69_37n -1 known missense c.2030 p.R677H 0.988 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6 - no_errors MASP1 HGNC ENSG00000127241 28 0 0.00 25 6 19.35 - - - MLL2 0 genome.wustl.edu 37 12 49443899 49443899 + Nonsense_Mutation SNP C C A TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 12 49443899 49443899 C A SNP MLL2 ENST00000301067 human ensembl 69_37n -1 known nonsense c.3472 p.E1158* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,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 MLL2 HGNC ENSG00000167548 32 0 0.00 46 7 13.21 - - - NCOR1 0 genome.wustl.edu 37 17 15973687 15973688 + Frame_Shift_Del DEL AT AT - TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 AT AT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 17 15973687 15973688 AT - DEL NCOR1 ENST00000268712 human ensembl 69_37n -1 known frame_shift_del c.4305_4304 p.Y1435fs 0.288:0.998 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 50 0 0.00 25 15 35.71 - - - PDE4DIP 0 genome.wustl.edu 37 1 145039922 145039922 + RNA SNP G G C TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 1 145039922 145039922 G C SNP PDE4DIP ENST00000497529 human ensembl 69_37n -1 known rna NULL NULL 0.016 - - - no_errors PDE4DIP HGNC ENSG00000178104 9 0 0.00 10 4 28.57 - - - PITX1 0 genome.wustl.edu 37 5 134364708 134364708 + Missense_Mutation SNP C C T TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 5 134364708 134364708 C T SNP PITX1 ENST00000265340 human ensembl 69_37n -1 known missense c.706 p.G236S 1.000 pirsf_Homeobox_Pitx/unc30 pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeodomain - no_errors PITX1 HGNC ENSG00000069011 83 0 0.00 62 22 26.19 - - - POU3F2 0 genome.wustl.edu 37 6 99283859 99283859 + Missense_Mutation SNP G G C TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 6 99283859 99283859 G C SNP POU3F2 ENST00000328345 human ensembl 69_37n +1 known missense c.1110 p.E370D 1.000 pirsf_Transcription_factor_POU,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_POU pirsf_Transcription_factor_POU,pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU3F2 HGNC ENSG00000184486 40 0 0.00 23 4 14.81 - - - PRKAA1 0 genome.wustl.edu 37 5 40763109 40763109 + Missense_Mutation SNP G G T TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 5 40763109 40763109 G T SNP PRKAA1 ENST00000354209 human ensembl 69_37n -1 known missense c.1496 p.A499D 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PRKAA1 HGNC ENSG00000132356 29 0 0.00 23 4 14.81 - - - PRKCG 0 genome.wustl.edu 37 19 54403868 54403868 + Silent SNP C C T TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 19 54403868 54403868 C T SNP PRKCG ENST00000540413 human ensembl 69_37n +1 known silent c.1440 p.D480 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCG HGNC ENSG00000126583 36 0 0.00 42 6 12.50 - - - SCN4A 0 genome.wustl.edu 37 17 62045591 62045591 + Silent SNP C C T TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 17 62045591 62045591 C T SNP SCN4A ENST00000435607 human ensembl 69_37n -1 known silent c.828 p.L276 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN4A HGNC ENSG00000007314 42 0 0.00 49 20 28.99 - - - SLC29A1 0 genome.wustl.edu 37 6 44197966 44197966 + RNA DEL G G - TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 6 44197966 44197966 G - DEL SLC29A1 ENST00000472176 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors SLC29A1 HGNC ENSG00000112759 40 0 0.00 46 6 11.54 - - - SLC39A13 0 genome.wustl.edu 37 11 47434951 47434952 + Frame_Shift_Ins INS - - C TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 11 47434951 47434952 - C INS SLC39A13 ENST00000362021 human ensembl 69_37n +1 known frame_shift_ins c.538_539 p.N182fs 1.000:1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A13 HGNC ENSG00000165915 55 0 0.00 50 9 15.25 - - - SPP1 0 genome.wustl.edu 37 4 88902647 88902647 + Silent SNP C C T TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 4 88902647 88902647 C T SNP SPP1 ENST00000395080 human ensembl 69_37n +1 known silent c.237 p.N79 0.082 pfam_Osteopontin,smart_Osteopontin,prints_Osteopontin pfam_Osteopontin,smart_Osteopontin,prints_Osteopontin - no_errors SPP1 HGNC ENSG00000118785 29 0 0.00 44 7 13.73 - - - TMEM63B 0 genome.wustl.edu 37 6 44121445 44121445 + Missense_Mutation SNP G G A TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 6 44121445 44121445 G A SNP TMEM63B ENST00000259746 human ensembl 69_37n +1 known missense c.1975 p.D659N 1.000 pfam_DUF221 pfam_DUF221 - no_errors TMEM63B HGNC ENSG00000137216 44 0 0.00 43 13 23.21 - - - TNS4 0 genome.wustl.edu 37 17 38638409 38638409 + Silent SNP C C A TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 17 38638409 38638409 C A SNP TNS4 ENST00000254051 human ensembl 69_37n -1 known silent c.1644 p.L548 1.000 pfscan_SH2 pfam_PTB,pfam_SH2,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2 - no_errors TNS4 HGNC ENSG00000131746 20 0 0.00 18 4 18.18 - - - TSPAN6 0 genome.wustl.edu 37 X 99891533 99891533 + RNA SNP C C T TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 X 99891533 99891533 C T SNP TSPAN6 ENST00000496771 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors TSPAN6 HGNC ENSG00000000003 63 0 0.00 53 6 10.17 - - - XIST 0 genome.wustl.edu 37 X 73070850 73070850 + RNA SNP G G T TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 X 73070850 73070850 G T SNP XIST ENST00000429829 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 49 0 0.00 28 14 33.33 - - - ZNF74 0 genome.wustl.edu 37 22 20760662 20760662 + Missense_Mutation SNP G G A TCGA-A2-A0CO-01A-13D-A228-09 TCGA-A2-A0CO-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 36053173-6839-43ec-8157-75d729085e6b fea38127-979d-4085-a9e1-6965b99458f3 22 20760662 20760662 G A SNP ZNF74 ENST00000356671 human ensembl 69_37n +1 known missense c.1339 p.A447T 0.002 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 ZNF74 HGNC ENSG00000185252 40 0 0.00 41 16 28.07 - - -