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 ADGB 0 genome.wustl.edu 37 6 147049874 147049874 + Nonsense_Mutation SNP C C A TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 6 147049874 147049874 C A SNP ADGB ENST00000480328 human ensembl 69_37n +1 known nonsense c.776 p.S259* 0.999 superfamily_Globin-like superfamily_Globin-like,pfscan_IQ_motif_EF-hand-BS - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ADGB HGNC ENSG00000118492 85 0 0.00 87 19 17.92 - - - ARHGAP35 0 genome.wustl.edu 37 19 47503802 47503802 + Frame_Shift_Del DEL T T - TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 19 47503802 47503802 T - DEL ARHGAP35 ENST00000404338 human ensembl 69_37n +1 known frame_shift_del c.4357 p.S1453fs 0.950 NULL pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 55 0 0.00 25 7 21.21 - - - ARHGEF10L 0 genome.wustl.edu 37 1 17975064 17975064 + Missense_Mutation SNP C C G TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 1 17975064 17975064 C G SNP ARHGEF10L ENST00000361221 human ensembl 69_37n +1 known missense c.2288 p.P763R 0.998 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ENSG00000074964 87 0 0.00 40 7 14.89 - - - ATG5 0 genome.wustl.edu 37 6 106649944 106649944 + Missense_Mutation SNP G G A TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 6 106649944 106649944 G A SNP ATG5 ENST00000360666 human ensembl 69_37n -1 known missense c.224 p.S75L 1.000 NULL NULL - no_errors ATG5 HGNC ENSG00000057663 83 0 0.00 80 9 10.11 - - - ATP1B1 0 genome.wustl.edu 37 1 169094132 169094132 + Missense_Mutation SNP G G T TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 1 169094132 169094132 G T SNP ATP1B1 ENST00000367815 human ensembl 69_37n +1 known missense c.237 p.Q79H 0.334 pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu - no_errors ATP1B1 HGNC ENSG00000143153 86 0 0.00 70 8 10.26 - - - C20orf111 0 genome.wustl.edu 37 20 42831600 42831600 + Splice_Site SNP C C A TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 20 42831600 42831600 C A SNP C20orf111 ENST00000255174 human ensembl 69_37n -1 known splice_site c.191+1 e2+1 1.000 - - - no_errors C20orf111 HGNC ENSG00000132823 125 0 0.00 104 29 21.80 - - - CALR3 0 genome.wustl.edu 37 19 16606648 16606648 + Missense_Mutation SNP C C T TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 19 16606648 16606648 C T SNP CALR3 ENST00000269881 human ensembl 69_37n -1 known missense c.107 p.R36Q 1.000 pfam_Calret/calnex,superfamily_ConA-like_lec_gl,pirsf_Calreticulin pfam_Calret/calnex,superfamily_ConA-like_lec_gl,superfamily_Calreticulin/calnexin_P,pirsf_Calreticulin,prints_Calret/calnex - no_errors CALR3 HGNC ENSG00000141979 77 0 0.00 59 14 18.92 - - - CD1B 0 genome.wustl.edu 37 1 158298045 158298045 + Missense_Mutation SNP G G A TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 1 158298045 158298045 G A SNP CD1B ENST00000368168 human ensembl 69_37n -1 known missense c.983 p.S328L 0.062 NULL pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors CD1B HGNC ENSG00000158485 196 0 0.00 127 32 20.13 - - - CEP19 0 genome.wustl.edu 37 3 196434456 196434456 + Missense_Mutation SNP C C A TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 3 196434456 196434456 C A SNP CEP19 ENST00000409690 human ensembl 69_37n -1 known missense c.470 p.C157F 1.000 NULL NULL - no_errors CEP19 HGNC ENSG00000174007 124 0 0.00 98 17 14.66 - - - COL5A3 0 genome.wustl.edu 37 19 10097049 10097049 + Missense_Mutation SNP G G A TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 19 10097049 10097049 G A SNP COL5A3 ENST00000264828 human ensembl 69_37n -1 known missense c.2294 p.P765L 0.074 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 30 0 0.00 11 13 54.17 - - - EFCAB7 0 genome.wustl.edu 37 1 63999242 63999242 + Missense_Mutation SNP G G A TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 1 63999242 63999242 G A SNP EFCAB7 ENST00000371088 human ensembl 69_37n +1 known missense c.604 p.E202K 0.998 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFCAB7 HGNC ENSG00000203965 63 0 0.00 28 22 44.00 - - - EFCAB7 0 genome.wustl.edu 37 1 64011686 64011686 + Missense_Mutation SNP G G C TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 1 64011686 64011686 G C SNP EFCAB7 ENST00000371088 human ensembl 69_37n +1 known missense c.904 p.V302L 0.997 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFCAB7 HGNC ENSG00000203965 77 0 0.00 77 13 14.44 - - - EPB41L5 0 genome.wustl.edu 37 2 120903830 120903830 + Silent SNP T T C TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 2 120903830 120903830 T C SNP EPB41L5 ENST00000263713 human ensembl 69_37n +1 known silent c.1758 p.H586 1.000 NULL pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors EPB41L5 HGNC ENSG00000115109 71 0 0.00 45 16 26.23 - - - FAM217A 0 genome.wustl.edu 37 6 4069649 4069649 + Missense_Mutation SNP C C T TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 6 4069649 4069649 C T SNP FAM217A ENST00000274673 human ensembl 69_37n -1 known missense c.808 p.D270N 0.949 NULL NULL - no_errors FAM217A HGNC ENSG00000145975 147 0 0.00 46 39 45.88 - - - FASTKD2 0 genome.wustl.edu 37 2 207638973 207638973 + Missense_Mutation SNP G G A TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 2 207638973 207638973 G A SNP FASTKD2 ENST00000236980 human ensembl 69_37n +1 known missense c.1279 p.E427K 1.000 NULL pfam_FAST_Leu-rich,pfam_FAST_2,pfam_RAP,smart_RAP - no_errors FASTKD2 HGNC ENSG00000118246 148 1 0.67 46 92 66.19 - - - FMN2 0 genome.wustl.edu 37 1 240370352 240370352 + Missense_Mutation SNP C C T TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 1 240370352 240370352 C T SNP FMN2 ENST00000319653 human ensembl 69_37n +1 known missense c.2240 p.S747F 0.999 NULL pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 47 0 0.00 22 17 43.59 - - - FMN2 0 genome.wustl.edu 37 1 240370552 240370552 + Missense_Mutation SNP C C T TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 1 240370552 240370552 C T SNP FMN2 ENST00000319653 human ensembl 69_37n +1 known missense c.2440 p.P814S 0.626 smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 55 0 0.00 23 17 42.50 - - - GCNT4 0 genome.wustl.edu 37 5 74325091 74325091 + Missense_Mutation SNP G G A TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 5 74325091 74325091 G A SNP GCNT4 ENST00000322348 human ensembl 69_37n -1 known missense c.772 p.P258S 0.877 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT4 HGNC ENSG00000176928 60 0 0.00 45 7 13.46 - - - GOLGA6L6 0 genome.wustl.edu 37 15 20740459 20740461 + In_Frame_Del DEL TCG TCG - TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 TCG TCG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 15 20740459 20740461 TCG - DEL GOLGA6L6 ENST00000427390 human ensembl 69_37n -1 known in_frame_del c.1291_1289 p.AK430in_frame_delE 0.966:0.963:0.960 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors GOLGA6L6 HGNC ENSG00000215405 17 0 0.00 8 8 50.00 - - - GPATCH4 0 genome.wustl.edu 37 1 156568029 156568030 + In_Frame_Ins INS - - CCA TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 1 156568029 156568030 - CCA INS GPATCH4 ENST00000438976 human ensembl 69_37n -1 known in_frame_ins c.251_250 p.84in_frame_insV 0.994:0.999 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH4 HGNC ENSG00000160818 183 0 0.00 118 24 16.90 - - - HPSE2 0 genome.wustl.edu 37 10 100219345 100219346 + Frame_Shift_Ins INS - - G TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 10 100219345 100219346 - G INS HPSE2 ENST00000370552 human ensembl 69_37n -1 known frame_shift_ins c.1765_1764 p.C588fs 1.000:1.000 NULL pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE2 HGNC ENSG00000172987 30 0 0.00 9 2 18.18 - - - INTS4L1 0 genome.wustl.edu 37 7 64649422 64649422 + RNA SNP C C T TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 7 64649422 64649422 C T SNP INTS4L1 ENST00000587624 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors INTS4L1 HGNC ENSG00000164669 43 0 0.00 28 9 24.32 - - - LIG4 0 genome.wustl.edu 37 13 108862458 108862458 + Missense_Mutation SNP C C T TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 13 108862458 108862458 C T SNP LIG4 ENST00000356922 human ensembl 69_37n -1 known missense c.1159 p.E387K 1.000 pfam_DNA_ligase_ATP-dep_cent,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_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG4 HGNC ENSG00000174405 85 0 0.00 84 17 16.83 - - - MASP1 0 genome.wustl.edu 37 3 186970996 186970996 + Silent SNP C C T TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 3 186970996 186970996 C T SNP MASP1 ENST00000296280 human ensembl 69_37n -1 known silent c.852 p.S284 0.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB 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 82 0 0.00 77 16 17.20 - - - MED25 0 genome.wustl.edu 37 19 50335258 50335258 + Silent SNP C C T TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 19 50335258 50335258 C T SNP MED25 ENST00000312865 human ensembl 69_37n +1 known silent c.1296 p.Y432 0.703 pfam_Mediator_Med25 pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box - no_errors MED25 HGNC ENSG00000104973 110 0 0.00 68 8 10.53 - - - NCOA6 0 genome.wustl.edu 37 20 33370003 33370003 + Missense_Mutation SNP G G C TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 20 33370003 33370003 G C SNP NCOA6 ENST00000359003 human ensembl 69_37n -1 known missense c.156 p.F52L 1.000 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 69 0 0.00 65 34 34.34 - - - NCOR1 0 genome.wustl.edu 37 17 16029456 16029457 + Frame_Shift_Ins INS - - T TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 17 16029456 16029457 - T INS NCOR1 ENST00000268712 human ensembl 69_37n -1 known frame_shift_ins c.1574_1573 p.T525fs 1.000:1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 103 0 0.00 44 28 38.89 - - - NUMB 0 genome.wustl.edu 37 14 73753872 73753872 + Missense_Mutation SNP T T A TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 14 73753872 73753872 T A SNP NUMB ENST00000355058 human ensembl 69_37n -1 known missense c.601 p.T201S 1.000 pirsf_Numb/numb-like pfam_Numb_domain,pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pirsf_Numb/numb-like,pfscan_PTyr_interaction_dom - no_errors NUMB HGNC ENSG00000133961 200 0 0.00 105 59 35.98 - - - NUP133 0 genome.wustl.edu 37 1 229622242 229622242 + Missense_Mutation SNP C C G TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 1 229622242 229622242 C G SNP NUP133 ENST00000261396 human ensembl 69_37n -1 known missense c.1376 p.G459A 0.948 NULL pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N - no_errors NUP133 HGNC ENSG00000069248 99 0 0.00 29 28 49.12 - - - PLA2G7 0 genome.wustl.edu 37 6 46672386 46672386 + Missense_Mutation SNP C C T TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 6 46672386 46672386 C T SNP PLA2G7 ENST00000274793 human ensembl 69_37n -1 known missense c.1237 p.D413N 0.670 pfam_PAF_acetylhydro,pirsf_Ac_Ohase_PAF pfam_PAF_acetylhydro,pirsf_Ac_Ohase_PAF - no_errors PLA2G7 HGNC ENSG00000146070 130 0 0.00 106 33 23.74 - - - PLA2G7 0 genome.wustl.edu 37 6 46678354 46678354 + Silent SNP C C T TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 6 46678354 46678354 C T SNP PLA2G7 ENST00000274793 human ensembl 69_37n -1 known silent c.705 p.L235 0.135 pfam_PAF_acetylhydro,pirsf_Ac_Ohase_PAF pfam_PAF_acetylhydro,pirsf_Ac_Ohase_PAF - no_errors PLA2G7 HGNC ENSG00000146070 98 0 0.00 53 30 36.14 - - - RAB19 0 genome.wustl.edu 37 7 140107556 140107556 + Missense_Mutation SNP T T G TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 7 140107556 140107556 T G SNP RAB19 ENST00000275874 human ensembl 69_37n +1 known missense c.110 p.F37C 1.000 pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB19 HGNC ENSG00000146955 110 0 0.00 84 18 17.65 - - - RANBP2 0 genome.wustl.edu 37 2 109347330 109347330 + Missense_Mutation SNP G G A TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 2 109347330 109347330 G A SNP RANBP2 ENST00000283195 human ensembl 69_37n +1 known missense c.241 p.E81K 1.000 pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 178 0 0.00 126 52 29.21 - - - RECQL 0 genome.wustl.edu 37 12 21630747 21630747 + Missense_Mutation SNP A A T TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 12 21630747 21630747 A T SNP RECQL ENST00000421138 human ensembl 69_37n -1 known missense c.857 p.L286Q 1.000 smart_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC ENSG00000004700 66 0 0.00 34 37 52.11 - - - SALL1 0 genome.wustl.edu 37 16 51174727 51174727 + Missense_Mutation SNP C C T TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 16 51174727 51174727 C T SNP SALL1 ENST00000251020 human ensembl 69_37n -1 known missense c.1406 p.R469H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 61 0 0.00 23 8 25.81 - - - SLCO2A1 0 genome.wustl.edu 37 3 133664056 133664056 + Missense_Mutation SNP G G A TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 3 133664056 133664056 G A SNP SLCO2A1 ENST00000481359 human ensembl 69_37n -1 known missense c.1154 p.A385V 1.000 NULL pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO2A1 HGNC ENSG00000174640 75 0 0.00 36 21 36.21 - - - SPRED2 0 genome.wustl.edu 37 2 65571979 65571979 + Silent SNP G G T TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 2 65571979 65571979 G T SNP SPRED2 ENST00000356388 human ensembl 69_37n -1 known silent c.78 p.S26 1.000 pfam_EVH1,smart_EVH1,pfscan_EVH1 pfam_Sprouty,pfam_EVH1,smart_EVH1,pfscan_EVH1 - no_errors SPRED2 HGNC ENSG00000198369 47 0 0.00 41 6 12.77 - - - STK35 0 genome.wustl.edu 37 20 2097463 2097463 + Silent SNP T T C TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 20 2097463 2097463 T C SNP STK35 ENST00000381482 human ensembl 69_37n +1 known silent c.1044 p.I348 0.998 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 STK35 HGNC ENSG00000125834 100 0 0.00 44 29 39.73 - - - TMEM143 0 genome.wustl.edu 37 19 48836505 48836505 + Missense_Mutation SNP G G T TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 19 48836505 48836505 G T SNP TMEM143 ENST00000293261 human ensembl 69_37n -1 known missense c.1351 p.Q451K 0.193 NULL pfam_DUF3754 - no_errors TMEM143 HGNC ENSG00000161558 43 0 0.00 14 5 26.32 - - - TMPRSS9 0 genome.wustl.edu 37 19 2416579 2416579 + Missense_Mutation SNP C C T TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 19 2416579 2416579 C T SNP TMPRSS9 ENST00000332578 human ensembl 69_37n +1 known missense c.1687 p.L563F 0.452 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6 - no_errors TMPRSS9 HGNC ENSG00000178297 28 0 0.00 18 11 37.93 - - - TP53 0 genome.wustl.edu 37 17 7579349 7579349 + Missense_Mutation SNP A A C TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 17 7579349 7579349 A C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.338 p.F113C 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 38 0 0.00 13 8 38.10 - - - TSPAN3 0 genome.wustl.edu 37 15 77346562 77346562 + Missense_Mutation SNP G G T TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 15 77346562 77346562 G T SNP TSPAN3 ENST00000267970 human ensembl 69_37n -1 known missense c.390 p.N130K 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN3 HGNC ENSG00000140391 147 0 0.00 49 48 48.98 - - - VCAN 0 genome.wustl.edu 37 5 82834037 82834037 + Nonsense_Mutation SNP G G T TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 5 82834037 82834037 G T SNP VCAN ENST00000265077 human ensembl 69_37n +1 known nonsense c.5215 p.E1739* 0.001 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EGF-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC ENSG00000038427 49 0 0.00 21 11 34.38 - - - VPS13C 0 genome.wustl.edu 37 15 62277090 62277090 + Missense_Mutation SNP G G C TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 15 62277090 62277090 G C SNP VPS13C ENST00000261517 human ensembl 69_37n -1 known missense c.1687 p.Q563E 0.354 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 109 0 0.00 83 15 15.31 - - - WDR17 0 genome.wustl.edu 37 4 177050008 177050008 + Missense_Mutation SNP A A G TCGA-E9-A1NF-01A-11D-A14G-09 TCGA-E9-A1NF-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cd428bec-fc31-4d2d-9e6c-c8f30608d797 edffc09c-201a-44d1-b758-5d9d64f5f6a6 4 177050008 177050008 A G SNP WDR17 ENST00000280190 human ensembl 69_37n +1 known missense c.982 p.K328E 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC ENSG00000150627 50 0 0.00 44 7 13.73 - - -