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 ALPP 0 genome.wustl.edu 37 2 233243713 233243713 + Missense_Mutation SNP G G A TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 2 233243713 233243713 G A SNP ALPP ENST00000392027 human ensembl 69_37n +1 known missense c.109 p.E37K 0.035 superfamily_Alkaline_phosphatase_core pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPP HGNC ENSG00000163283 136 1 0.73 90 32 26.23 - - - BIRC6 0 genome.wustl.edu 37 2 32774504 32774504 + Missense_Mutation SNP C C T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 2 32774504 32774504 C T SNP BIRC6 ENST00000421745 human ensembl 69_37n +1 known missense c.13100 p.S4367F 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 54 0 0.00 63 14 18.18 - - - BRWD1 0 genome.wustl.edu 37 21 40597087 40597087 + Missense_Mutation SNP C C G TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 21 40597087 40597087 C G SNP BRWD1 ENST00000333229 human ensembl 69_37n -1 known missense c.3245 p.W1082S 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors BRWD1 HGNC ENSG00000185658 36 0 0.00 15 3 16.67 - - - C14orf159 0 genome.wustl.edu 37 14 91681803 91681803 + Nonsense_Mutation SNP C C G TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 14 91681803 91681803 C G SNP C14orf159 ENST00000256324 human ensembl 69_37n +1 known nonsense c.1619 p.S540* 0.053 pirsf_UPF0317_mt pfam_DUF1445,pirsf_UPF0317_mt - no_errors C14orf159 HGNC ENSG00000133943 89 0 0.00 43 23 34.85 - - - C5orf44 0 genome.wustl.edu 37 5 64925401 64925401 + RNA SNP T T A TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 5 64925401 64925401 T A SNP C5orf44 ENST00000514404 human ensembl 69_37n +1 putative rna NULL NULL 0.687 - - - no_errors C5orf44 HGNC ENSG00000113597 39 0 0.00 5 14 73.68 - - - CACNB2 0 genome.wustl.edu 37 10 18803948 18803948 + Missense_Mutation SNP C C T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 10 18803948 18803948 C T SNP CACNB2 ENST00000352115 human ensembl 69_37n +1 known missense c.710 p.A237V 1.000 superfamily_SH3_domain pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b2su - no_errors CACNB2 HGNC ENSG00000165995 41 0 0.00 54 6 10.00 - - - CALML3 0 genome.wustl.edu 37 10 5567450 5567450 + Silent SNP C C T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 10 5567450 5567450 C T SNP CALML3 ENST00000315238 human ensembl 69_37n +1 known silent c.402 p.D134 0.849 pfam_EF-hand,pfam_EF-hand_Ca_insen,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,pfam_EF-hand_Ca_insen,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CALML3 HGNC ENSG00000178363 34 0 0.00 51 7 12.07 - - - CC2D1A 0 genome.wustl.edu 37 19 14029770 14029770 + Missense_Mutation SNP G G A TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 19 14029770 14029770 G A SNP CC2D1A ENST00000318003 human ensembl 69_37n +1 known missense c.1064 p.R355Q 1.000 smart_DM14 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep - no_errors CC2D1A HGNC ENSG00000132024 86 0 0.00 145 21 12.65 - - - CC2D1A 0 genome.wustl.edu 37 19 14030750 14030750 + Missense_Mutation SNP G G A TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 19 14030750 14030750 G A SNP CC2D1A ENST00000318003 human ensembl 69_37n +1 known missense c.1342 p.E448K 0.980 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep - no_errors CC2D1A HGNC ENSG00000132024 53 0 0.00 57 13 18.57 - - - CCDC169 0 genome.wustl.edu 37 13 36855373 36855373 + RNA SNP C C G TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 13 36855373 36855373 C G SNP CCDC169 ENST00000477250 human ensembl 69_37n -1 known rna NULL NULL 0.004 - - - no_errors CCDC169 HGNC ENSG00000242715 8 0 0.00 3 8 72.73 - - - CCDC85B 0 genome.wustl.edu 37 11 65658674 65658674 + Silent SNP C C T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 11 65658674 65658674 C T SNP CCDC85B ENST00000312579 human ensembl 69_37n +1 known silent c.420 p.L140 1.000 pfam_DUF2216_coiled-coil pfam_DUF2216_coiled-coil - no_errors CCDC85B HGNC ENSG00000175602 20 0 0.00 16 7 30.43 - - - CD247 0 genome.wustl.edu 37 1 167404209 167404210 + RNA INS - - T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 1 167404209 167404210 - T INS CD247 ENST00000483825 human ensembl 69_37n -1 known rna NULL NULL 0.000:0.000 - - - no_errors CD247 HGNC ENSG00000198821 47 0 0.00 41 6 12.77 - - - CDT1 0 genome.wustl.edu 37 16 88872978 88872978 + Missense_Mutation SNP G G T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 16 88872978 88872978 G T SNP CDT1 ENST00000301019 human ensembl 69_37n +1 known missense c.1018 p.V340L 1.000 pfam_CDT1_Gemini-bd-like pfam_CDT1_Gemini-bd-like - no_errors CDT1 HGNC ENSG00000167513 36 0 0.00 31 11 26.19 - - - CPNE4 0 genome.wustl.edu 37 3 131268919 131268919 + Nonsense_Mutation SNP G G A TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 3 131268919 131268919 G A SNP CPNE4 ENST00000502818 human ensembl 69_37n -1 known nonsense c.1228 p.Q410* 1.000 pfam_Copine,smart_VWF_A pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting - no_errors CPNE4 HGNC ENSG00000196353 46 0 0.00 19 5 20.83 - - - CRYL1 0 genome.wustl.edu 37 13 21013828 21013828 + Frame_Shift_Del DEL A A - TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 13 21013828 21013828 A - DEL CRYL1 ENST00000298248 human ensembl 69_37n -1 known frame_shift_del c.342 p.D114fs 0.001 pfam_3-OHacyl-CoA_DH_NAD-bd pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like - no_errors CRYL1 HGNC ENSG00000165475 24 0 0.00 19 6 23.08 - - - DAB2 0 genome.wustl.edu 37 5 39377343 39377343 + Missense_Mutation SNP T T C TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 5 39377343 39377343 T C SNP DAB2 ENST00000320816 human ensembl 69_37n -1 known missense c.1546 p.T516A 0.000 NULL pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom - no_errors DAB2 HGNC ENSG00000153071 33 0 0.00 25 10 28.57 - - - DCAF10 0 genome.wustl.edu 37 9 37862230 37862230 + RNA SNP C C G TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 9 37862230 37862230 C G SNP DCAF10 ENST00000483167 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors DCAF10 HGNC ENSG00000122741 43 0 0.00 34 6 15.00 - - - DDR1 0 genome.wustl.edu 37 6 30859162 30859162 + Missense_Mutation SNP C C T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 6 30859162 30859162 C T SNP DDR1 ENST00000376575 human ensembl 69_37n +1 known missense c.571 p.L191F 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom - no_errors DDR1 HGNC ENSG00000204580 47 0 0.00 55 10 15.38 - - - DDX1 0 genome.wustl.edu 37 2 15761226 15761226 + Missense_Mutation SNP G G C TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 2 15761226 15761226 G C SNP DDX1 ENST00000233084 human ensembl 69_37n +1 known missense c.1433 p.G478A 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,pfam_Helicase_C,superfamily_ConA-like_lec_gl,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,smart_Helicase_C,pfscan_B30.2/SPRY,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX1 HGNC ENSG00000079785 34 0 0.00 39 10 20.41 - - - DDX21 0 genome.wustl.edu 37 10 70728850 70728850 + Missense_Mutation SNP G G C TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 10 70728850 70728850 G C SNP DDX21 ENST00000354185 human ensembl 69_37n +1 known missense c.1209 p.K403N 1.000 smart_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX21 HGNC ENSG00000165732 49 0 0.00 20 8 28.57 - - - DDX60 0 genome.wustl.edu 37 4 169227774 169227774 + Missense_Mutation SNP G G C TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 4 169227774 169227774 G C SNP DDX60 ENST00000393743 human ensembl 69_37n -1 known missense c.362 p.T121R 0.759 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 37 0 0.00 9 16 64.00 - - - DEPDC5 0 genome.wustl.edu 37 22 32289734 32289734 + Missense_Mutation SNP G G T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 22 32289734 32289734 G T SNP DEPDC5 ENST00000266091 human ensembl 69_37n +1 known missense c.4134 p.E1378D 1.000 NULL pfam_DUF3608,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 34 0 0.00 2 16 88.89 - - - DGAT2 0 genome.wustl.edu 37 11 75508201 75508201 + Splice_Site SNP A A T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 11 75508201 75508201 A T SNP DGAT2 ENST00000228027 human ensembl 69_37n +1 known splice_site c.635-2 e6-2 1.000 - - - no_errors DGAT2 HGNC ENSG00000062282 51 0 0 49 8 14.04 - - - DNAH17 0 genome.wustl.edu 37 17 76565585 76565585 + Missense_Mutation SNP C C G TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 17 76565585 76565585 C G SNP DNAH17 ENST00000389840 human ensembl 69_37n -1 known missense c.1069 p.E357Q 0.973 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 62 0 0.00 41 21 33.87 - - - DNAJB12 0 genome.wustl.edu 37 10 74096348 74096348 + Missense_Mutation SNP C C G TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 10 74096348 74096348 C G SNP DNAJB12 ENST00000338820 human ensembl 69_37n -1 known missense c.1042 p.E348Q 0.999 pfam_DUF1977_DnaJ-like pfam_DUF1977_DnaJ-like,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,prints_Hsp_DnaJ,pfscan_DnaJ_N - no_errors DNAJB12 HGNC ENSG00000148719 73 0 0.00 32 4 11.11 - - - ENDOV 0 genome.wustl.edu 37 17 78389493 78389493 + Missense_Mutation SNP G G A TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 17 78389493 78389493 G A SNP ENDOV ENST00000518137 human ensembl 69_37n +1 known missense c.100 p.E34K 0.979 NULL pfam_Endonuclease-V - no_errors ENDOV HGNC ENSG00000173818 62 0 0.00 35 13 27.08 - - - ENSG00000242294 0 genome.wustl.edu 37 7 99933775 99933775 + RNA SNP G G C TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 7 99933775 99933775 G C SNP ENSG00000242294 ENST00000414292 human ensembl 69_37n +1 known rna NULL NULL 0.024 - - - no_errors CTB-161A2.3 Clone_based_vega_gene ENSG00000242294 134 0 0.00 90 22 19.64 - - - EPB41L3 0 genome.wustl.edu 37 18 5577341 5577342 + Frame_Shift_Del DEL AG AG - TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 18 5577341 5577342 AG - DEL EPB41L3 ENST00000582592 human ensembl 69_37n -1 putative frame_shift_del c.43_42 p.L15fs 0.995:1.000 NULL NULL - no_stop_codon:bad_bp_length_for_coding_region EPB41L3 HGNC ENSG00000082397 15 0 0.00 2 2 50.00 - - - FABP6 0 genome.wustl.edu 37 5 159661862 159661862 + Silent SNP G G A TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 5 159661862 159661862 G A SNP FABP6 ENST00000393980 human ensembl 69_37n +1 known silent c.426 p.V142 0.000 superfamily_Calycin-like superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP6 HGNC ENSG00000170231 92 0 0.00 52 27 33.75 - - - FAHD2A 0 genome.wustl.edu 37 2 96071355 96071355 + Nonsense_Mutation SNP C C T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 2 96071355 96071355 C T SNP FAHD2A ENST00000233379 human ensembl 69_37n +1 known nonsense c.49 p.Q17* 0.962 NULL pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel - no_errors FAHD2A HGNC ENSG00000115042 117 0 0.00 187 27 12.62 - - - FAM115C 0 genome.wustl.edu 37 7 143417625 143417625 + Missense_Mutation SNP G G C TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 7 143417625 143417625 G C SNP FAM115C ENST00000518791 human ensembl 69_37n +1 putative missense c.916 p.G306R 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FAM115C HGNC ENSG00000170379 32 0 0.00 1 2 66.67 - - - FAM75D5 0 genome.wustl.edu 37 9 84534225 84534225 + RNA SNP C C T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 9 84534225 84534225 C T SNP FAM75D5 ENST00000527857 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors FAM75D5 HGNC ENSG00000240632 32 0 0.00 8 14 63.64 - - - FAT2 0 genome.wustl.edu 37 5 150946114 150946114 + Silent SNP A A G TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 5 150946114 150946114 A G SNP FAT2 ENST00000261800 human ensembl 69_37n -1 known silent c.2379 p.Y793 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 72 0 0.00 7 43 86.00 - - - FBXW7 0 genome.wustl.edu 37 4 153249385 153249385 + Missense_Mutation SNP G G A TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 4 153249385 153249385 G A SNP FBXW7 ENST00000281708 human ensembl 69_37n -1 known missense c.1393 p.R465C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW7 HGNC ENSG00000109670 65 0 0.00 8 45 84.91 - - - FCRL1 0 genome.wustl.edu 37 1 157771340 157771340 + Missense_Mutation SNP A A C TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 1 157771340 157771340 A C SNP FCRL1 ENST00000368176 human ensembl 69_37n -1 known missense c.914 p.L305R 0.055 NULL pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL1 HGNC ENSG00000163534 36 0 0.00 36 13 26.53 - - - FOCAD 0 genome.wustl.edu 37 9 20944725 20944725 + Silent SNP G G T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 9 20944725 20944725 G T SNP FOCAD ENST00000338382 human ensembl 69_37n +1 known silent c.3507 p.L1169 0.979 superfamily_ARM-type_fold pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 105 0 0.00 79 17 17.71 - - - FOXR2 0 genome.wustl.edu 37 X 55650935 55650935 + Missense_Mutation SNP G G C TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 X 55650935 55650935 G C SNP FOXR2 ENST00000339140 human ensembl 69_37n +1 known missense c.791 p.R264T 0.002 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXR2 HGNC ENSG00000189299 26 0 0.00 15 11 42.31 - - - GEMIN5 0 genome.wustl.edu 37 5 154316741 154316741 + Silent SNP T T G TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 5 154316741 154316741 T G SNP GEMIN5 ENST00000285873 human ensembl 69_37n -1 known silent c.171 p.I57 1.000 pfam_WD40_repeat,smart_WD40_repeat pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors GEMIN5 HGNC ENSG00000082516 84 0 0.00 32 19 37.25 - - - GRIK4 0 genome.wustl.edu 37 11 120852906 120852906 + Nonsense_Mutation SNP G G A TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 11 120852906 120852906 G A SNP GRIK4 ENST00000527524 human ensembl 69_37n +1 known nonsense c.2487 p.W829* 1.000 prints_NMDA_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 74 0 0.00 68 16 19.05 - - - HERC2 0 genome.wustl.edu 37 15 28436380 28436380 + Missense_Mutation SNP C C G TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 15 28436380 28436380 C G SNP HERC2 ENST00000261609 human ensembl 69_37n -1 known missense c.8462 p.R2821P 1.000 pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 28 0 0.00 13 3 18.75 - - - HLX 0 genome.wustl.edu 37 1 221054585 221054585 + Silent SNP A A C TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 1 221054585 221054585 A C SNP HLX ENST00000366903 human ensembl 69_37n +1 known silent c.642 p.S214 0.003 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors HLX HGNC ENSG00000136630 67 0 0.00 56 11 16.18 - - - IGF2R 0 genome.wustl.edu 37 6 160484554 160484554 + Missense_Mutation SNP C C T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 6 160484554 160484554 C T SNP IGF2R ENST00000356956 human ensembl 69_37n +1 known missense c.3778 p.R1260W 0.997 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 36 0 0.00 43 6 12.24 - - - IGHA2 0 genome.wustl.edu 37 14 106053516 106053516 + Missense_Mutation SNP C C T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 14 106053516 106053516 C T SNP IGHA2 ENST00000390539 human ensembl 69_37n -1 known missense c.781 p.E261K 0.000 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like - no_start_codon IGHA2 HGNC ENSG00000211890 53 0 0.00 14 15 51.72 - - - INF2 0 genome.wustl.edu 37 14 105173281 105173281 + Missense_Mutation SNP C C T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 14 105173281 105173281 C T SNP INF2 ENST00000392634 human ensembl 69_37n +1 known missense c.878 p.S293L 1.000 pfam_Drf_FH3,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_WH2_dom,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 19 0 0.00 7 6 46.15 - - - ITGB2 0 genome.wustl.edu 37 21 46311893 46311893 + Missense_Mutation SNP C C T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 21 46311893 46311893 C T SNP ITGB2 ENST00000302347 human ensembl 69_37n -1 known missense c.1243 p.V415I 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB2 HGNC ENSG00000160255 37 0 0.00 26 11 29.73 - - - KANK1 0 genome.wustl.edu 37 9 711061 711061 + Missense_Mutation SNP G G A TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 9 711061 711061 G A SNP KANK1 ENST00000382297 human ensembl 69_37n +1 known missense c.295 p.D99N 1.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 33 0 0.00 29 10 25.64 - - - KBTBD13 0 genome.wustl.edu 37 15 65370332 65370332 + Silent SNP C C T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 15 65370332 65370332 C T SNP KBTBD13 ENST00000432196 human ensembl 69_37n +1 known silent c.1179 p.L393 0.918 NULL pfam_Kelch_1,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KBTBD13 HGNC ENSG00000234438 30 0 0.00 24 11 31.43 - - - KLHL36 0 genome.wustl.edu 37 16 84690686 84690686 + Silent SNP C C T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 16 84690686 84690686 C T SNP KLHL36 ENST00000564996 human ensembl 69_37n +1 known silent c.273 p.G91 0.995 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL36 HGNC ENSG00000135686 52 0 0.00 32 14 30.43 - - - KLHL7 0 genome.wustl.edu 37 7 23145615 23145615 + RNA SNP G G A TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 7 23145615 23145615 G A SNP KLHL7 ENST00000459661 human ensembl 69_37n +1 known rna NULL NULL 0.094 - - - no_errors KLHL7 HGNC ENSG00000122550 35 0 0.00 40 6 13.04 - - - LARP1 0 genome.wustl.edu 37 5 154169917 154169917 + Missense_Mutation SNP G G A TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 5 154169917 154169917 G A SNP LARP1 ENST00000336314 human ensembl 69_37n +1 known missense c.238 p.A80T 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC ENSG00000155506 89 0 0.00 34 18 34.62 - - - LIG3 0 genome.wustl.edu 37 17 33310218 33310218 + Missense_Mutation SNP G G A TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 17 33310218 33310218 G A SNP LIG3 ENST00000378526 human ensembl 69_37n +1 known missense c.194 p.R65K 0.995 NULL pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,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_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG3 HGNC ENSG00000005156 41 0 0.00 32 6 15.79 - - - LPHN1 0 genome.wustl.edu 37 19 14263405 14263405 + Missense_Mutation SNP C C G TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 19 14263405 14263405 C G SNP LPHN1 ENST00000340736 human ensembl 69_37n -1 known missense c.3459 p.W1153C 1.000 pfam_GPCR_2_latrophilin_rcpt_C pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN1 HGNC ENSG00000072071 69 0 0.00 86 13 13.13 - - - LRRC49 0 genome.wustl.edu 37 15 71302313 71302313 + Missense_Mutation SNP G G C TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 15 71302313 71302313 G C SNP LRRC49 ENST00000260382 human ensembl 69_37n +1 known missense c.1575 p.Q525H 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC49 HGNC ENSG00000137821 47 0 0.00 27 5 15.62 - - - LSR 0 genome.wustl.edu 37 19 35749961 35749961 + Missense_Mutation SNP G G A TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 19 35749961 35749961 G A SNP LSR ENST00000361790 human ensembl 69_37n +1 known missense c.712 p.V238I 1.000 smart_Ig_sub pfam_LISCH7,smart_Ig_sub,pfscan_Ig-like - no_errors LSR HGNC ENSG00000105699 32 0 0.00 14 43 75.44 - - - MAP4K1 0 genome.wustl.edu 37 19 39098647 39098647 + Nonsense_Mutation SNP G G C TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 19 39098647 39098647 G C SNP MAP4K1 ENST00000591921 human ensembl 69_37n -1 novel nonsense c.125 p.S42* 0.033 NULL pfam_Citron,smart_Citron - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MAP4K1 HGNC ENSG00000104814 74 0 0.00 99 16 13.91 - - - MAST1 0 genome.wustl.edu 37 19 12962763 12962763 + Missense_Mutation SNP G G C TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 19 12962763 12962763 G C SNP MAST1 ENST00000251472 human ensembl 69_37n +1 known missense c.790 p.E264Q 1.000 pfam_MA_Ser/Thr_Kinase_dom,superfamily_MAST_pre-PK_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST1 HGNC ENSG00000105613 27 0 0.00 35 7 16.67 - - - MED15 0 genome.wustl.edu 37 22 20907442 20907442 + Missense_Mutation SNP A A G TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 22 20907442 20907442 A G SNP MED15 ENST00000423862 human ensembl 69_37n +1 novel missense c.121 p.I41V 1.000 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MED15 HGNC ENSG00000099917 66 0 0.00 37 7 15.91 - - - MEIS1 0 genome.wustl.edu 37 2 66798489 66798489 + Missense_Mutation SNP G G A TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 2 66798489 66798489 G A SNP MEIS1 ENST00000407092 human ensembl 69_37n +1 known missense c.1226 p.R409H 1.000 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors MEIS1 HGNC ENSG00000143995 42 0 0.00 45 11 19.64 - - - METTL1 0 genome.wustl.edu 37 12 58162854 58162854 + Missense_Mutation SNP G G A TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 12 58162854 58162854 G A SNP METTL1 ENST00000548504 human ensembl 69_37n -1 novel missense c.349 p.P117S 1.000 pfam_tRNA_(Gua-N-7)_MeTrfase pfam_tRNA_(Gua-N-7)_MeTrfase - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region METTL1 HGNC ENSG00000037897 54 0 0.00 31 7 18.42 - - - MIR4313 0 genome.wustl.edu 37 15 76054333 76054333 + RNA SNP A A G TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 15 76054333 76054333 A G SNP MIR4313 ENST00000561777 human ensembl 69_37n -1 known rna NULL NULL 0.012 - - - no_errors MIR4313 HGNC ENSG00000261043 10 0 0.00 1 5 83.33 - - - MLC1 0 genome.wustl.edu 37 22 50500033 50500033 + Silent SNP G G A TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 22 50500033 50500033 G A SNP MLC1 ENST00000311597 human ensembl 69_37n -1 known silent c.1113 p.V371 0.008 NULL NULL - no_errors MLC1 HGNC ENSG00000100427 55 0 0.00 9 31 77.50 - - - MLL 0 genome.wustl.edu 37 11 118343199 118343199 + Missense_Mutation SNP G G A TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 11 118343199 118343199 G A SNP MLL ENST00000389506 human ensembl 69_37n +1 known missense c.1325 p.R442Q 1.000 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors MLL HGNC ENSG00000118058 19 0 0.00 13 6 31.58 - - - MN1 0 genome.wustl.edu 37 22 28194924 28194925 + In_Frame_Ins INS - - TGT TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 22 28194924 28194925 - TGT INS MN1 ENST00000302326 human ensembl 69_37n -1 known in_frame_ins c.1608_1607 p.540in_frame_insQ 0.997:0.998 NULL NULL - no_errors MN1 HGNC ENSG00000169184 50 0 0.00 30 7 18.92 - - - MOV10L1 0 genome.wustl.edu 37 22 50591516 50591516 + Missense_Mutation SNP C C A TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 22 50591516 50591516 C A SNP MOV10L1 ENST00000262794 human ensembl 69_37n +1 known missense c.2935 p.L979M 1.000 NULL superfamily_NA-bd_OB-fold-like - no_errors MOV10L1 HGNC ENSG00000073146 94 0 0.00 53 22 29.33 - - - MPHOSPH10 0 genome.wustl.edu 37 2 71371571 71371571 + Missense_Mutation SNP A A C TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 2 71371571 71371571 A C SNP MPHOSPH10 ENST00000244230 human ensembl 69_37n +1 known missense c.1460 p.E487A 1.000 pfam_Mpp10,pirsf_snoRNP_Mpp10 pfam_Mpp10,pirsf_snoRNP_Mpp10 - no_errors MPHOSPH10 HGNC ENSG00000124383 52 0 0.00 48 17 26.15 - - - MYBBP1A 0 genome.wustl.edu 37 17 4452659 4452659 + Missense_Mutation SNP C C T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 17 4452659 4452659 C T SNP MYBBP1A ENST00000573116 human ensembl 69_37n -1 known missense c.1156 p.D386N 1.000 pfam_DNA_pol_V,superfamily_ARM-type_fold pfam_DNA_pol_V,superfamily_ARM-type_fold - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MYBBP1A HGNC ENSG00000132382 32 0 0.00 27 4 12.90 - - - NDRG2 0 genome.wustl.edu 37 14 21486165 21486165 + Missense_Mutation SNP G G A TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 14 21486165 21486165 G A SNP NDRG2 ENST00000553593 human ensembl 69_37n -1 putative missense c.677 p.S226F 1.000 pfam_Ndr pfam_Ndr - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NDRG2 HGNC ENSG00000165795 68 0 0.00 49 15 23.44 - - - NFATC3 0 genome.wustl.edu 37 16 68225648 68225648 + Missense_Mutation SNP A A T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 16 68225648 68225648 A T SNP NFATC3 ENST00000346183 human ensembl 69_37n +1 known missense c.3076 p.I1026F 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC3 HGNC ENSG00000072736 71 0 0.00 38 11 22.45 - - - NFKBIB 0 genome.wustl.edu 37 19 39395737 39395737 + Missense_Mutation SNP G G A TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 19 39395737 39395737 G A SNP NFKBIB ENST00000313582 human ensembl 69_37n +1 known missense c.262 p.D88N 0.998 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors NFKBIB HGNC ENSG00000104825 81 0 0.00 115 13 10.16 - - - NLRC3 0 genome.wustl.edu 37 16 3602234 3602234 + Missense_Mutation SNP C C G TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 16 3602234 3602234 C G SNP NLRC3 ENST00000448023 human ensembl 69_37n -1 known missense c.2455 p.D819H 0.997 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 67 0 0.00 31 12 27.91 - - - NOTCH3 0 genome.wustl.edu 37 19 15296369 15296369 + Silent SNP G G C TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 19 15296369 15296369 G C SNP NOTCH3 ENST00000263388 human ensembl 69_37n -1 known silent c.2073 p.L691 0.970 smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Notch,pfscan_EG-like_dom pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 44 0 0.00 52 8 13.33 - - - NUMBL 0 genome.wustl.edu 37 19 41173889 41173889 + Silent SNP C C T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 19 41173889 41173889 C T SNP NUMBL ENST00000252891 human ensembl 69_37n -1 known silent c.1314 p.Q438 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 NUMBL HGNC ENSG00000105245 24 0 0.00 30 19 38.78 - - - OR4S2 0 genome.wustl.edu 37 11 55419048 55419048 + Silent SNP G G A TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 11 55419048 55419048 G A SNP OR4S2 ENST00000312422 human ensembl 69_37n +1 known silent c.669 p.L223 0.044 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4S2 HGNC ENSG00000174982 116 0 0.00 74 18 19.57 - - - OR51G2 0 genome.wustl.edu 37 11 4936482 4936482 + Missense_Mutation SNP C C T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 11 4936482 4936482 C T SNP OR51G2 ENST00000322013 human ensembl 69_37n -1 known missense c.412 p.V138I 0.649 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR51G2 HGNC ENSG00000176893 26 0 0.00 15 10 40.00 - - - OR5L1 0 genome.wustl.edu 37 11 55579451 55579451 + Missense_Mutation SNP G G T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 11 55579451 55579451 G T SNP OR5L1 ENST00000333973 human ensembl 69_37n +1 known missense c.509 p.R170I 0.002 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR5L1 HGNC ENSG00000186117 99 0 0.00 48 15 23.81 - - - PCDHGA4 0 genome.wustl.edu 37 5 140736344 140736344 + Missense_Mutation SNP G G C TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 5 140736344 140736344 G C SNP PCDHGA4 ENST00000571252 human ensembl 69_37n +1 known missense c.1577 p.R526T 0.818 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA4 HGNC ENSG00000262576 43 0 0.00 28 12 30.00 - - - PDIA5 0 genome.wustl.edu 37 3 122880757 122880757 + Missense_Mutation SNP C C G TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 3 122880757 122880757 C G SNP PDIA5 ENST00000316218 human ensembl 69_37n +1 known missense c.1510 p.L504V 1.000 NULL pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors PDIA5 HGNC ENSG00000065485 44 0 0.00 19 5 20.83 - - - PLCL2 0 genome.wustl.edu 37 3 17053215 17053215 + Missense_Mutation SNP G G A TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 3 17053215 17053215 G A SNP PLCL2 ENST00000418129 human ensembl 69_37n +1 known missense c.1999 p.D667N 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL2 HGNC ENSG00000154822 53 0 0.00 35 7 16.67 - - - PNPLA6 0 genome.wustl.edu 37 19 7621587 7621587 + Missense_Mutation SNP C C T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 19 7621587 7621587 C T SNP PNPLA6 ENST00000414982 human ensembl 69_37n +1 known missense c.3287 p.S1096L 1.000 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC ENSG00000032444 79 0 0.00 129 19 12.84 - - - POLR2J3 0 genome.wustl.edu 37 7 102182031 102182031 + Missense_Mutation SNP G G A TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 7 102182031 102182031 G A SNP POLR2J3 ENST00000379357 human ensembl 69_37n -1 known missense c.191 p.T64M 0.968 NULL NULL - no_errors POLR2J3 HGNC ENSG00000168255 8 0 0.00 1 3 75.00 - - - POLR3A 0 genome.wustl.edu 37 10 79745033 79745033 + Missense_Mutation SNP G G A TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 10 79745033 79745033 G A SNP POLR3A ENST00000372371 human ensembl 69_37n -1 known missense c.3137 p.T1046I 1.000 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N - no_errors POLR3A HGNC ENSG00000148606 38 0 0.00 14 14 50.00 - - - POU5F1 0 genome.wustl.edu 37 6 31133443 31133443 + Missense_Mutation SNP C C G TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 6 31133443 31133443 C G SNP POU5F1 ENST00000259915 human ensembl 69_37n -1 known missense c.562 p.E188Q 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_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 POU5F1 HGNC ENSG00000204531 48 0 0.00 46 7 13.21 - - - PPM1M 0 genome.wustl.edu 37 3 52282678 52282678 + Missense_Mutation SNP G G A TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 3 52282678 52282678 G A SNP PPM1M ENST00000457351 human ensembl 69_37n +1 known missense c.940 p.D314N 0.997 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1M HGNC ENSG00000164088 43 0 0.00 20 13 39.39 - - - PRAMEF18 0 genome.wustl.edu 37 1 13474983 13474983 + Silent SNP G G A TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 1 13474983 13474983 G A SNP PRAMEF18 ENST00000376126 human ensembl 69_37n -1 known silent c.1146 p.F382 0.004 NULL NULL - no_errors PRAMEF18 HGNC ENSG00000204491 149 0 0.00 94 35 27.13 - - - PRDM9 0 genome.wustl.edu 37 5 23527492 23527492 + Missense_Mutation SNP A A T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 5 23527492 23527492 A T SNP PRDM9 ENST00000296682 human ensembl 69_37n +1 known missense c.2295 p.R765S 0.003 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 46 0 0.00 77 10 11.49 - - - PRIC285 0 genome.wustl.edu 37 20 62202569 62202569 + RNA SNP A A C TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 20 62202569 62202569 A C SNP PRIC285 ENST00000479540 human ensembl 69_37n -1 known rna NULL NULL 0.993 - - - no_errors RP4-697K14.7 Clone_based_vega_gene ENSG00000130589 32 0 0.00 67 9 11.84 - - - PSG6 0 genome.wustl.edu 37 19 43414865 43414865 + Missense_Mutation SNP C C G TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 19 43414865 43414865 C G SNP PSG6 ENST00000292125 human ensembl 69_37n -1 known missense c.573 p.R191S 0.002 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG6 HGNC ENSG00000170848 157 0 0.00 190 55 22.45 - - - RGS4 0 genome.wustl.edu 37 1 163042526 163042526 + RNA SNP C C T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 1 163042526 163042526 C T SNP RGS4 ENST00000491263 human ensembl 69_37n +1 known rna NULL NULL 0.028 - - - no_errors RGS4 HGNC ENSG00000117152 56 0 0.00 45 7 13.21 - - - RHOA 0 genome.wustl.edu 37 3 49449842 49449842 + RNA SNP G G C TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 3 49449842 49449842 G C SNP RHOA ENST00000265538 human ensembl 69_37n -1 known rna NULL NULL 0.284 - - - no_errors RHOA HGNC ENSG00000067560 34 0 0.00 21 6 22.22 - - - ROBO2 0 genome.wustl.edu 37 3 77147378 77147378 + Missense_Mutation SNP T T G TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 3 77147378 77147378 T G SNP ROBO2 ENST00000461745 human ensembl 69_37n +1 known missense c.275 p.F92C 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO2 HGNC ENSG00000185008 78 0 0.00 16 16 50.00 - - - RP1 0 genome.wustl.edu 37 8 55540482 55540482 + Missense_Mutation SNP C C T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 8 55540482 55540482 C T SNP RP1 ENST00000220676 human ensembl 69_37n +1 known missense c.4040 p.S1347F 0.032 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 60 0 0.00 66 10 13.16 - - - RPTOR 0 genome.wustl.edu 37 17 78933918 78933918 + Frame_Shift_Del DEL C C - TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 17 78933918 78933918 C - DEL RPTOR ENST00000306801 human ensembl 69_37n +1 known frame_shift_del c.3518 p.C1174fs 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 50 0 0.00 32 31 49.21 - - - RTL1 0 genome.wustl.edu 37 14 101350192 101350192 + Frame_Shift_Del DEL C C - TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 14 101350192 101350192 C - DEL RTL1 ENST00000534062 human ensembl 69_37n -1 known frame_shift_del c.934 p.V312fs 0.931 pfam_Retrotrans_gag pfam_Retrotrans_gag,superfamily_Peptidase_aspartic - no_errors RTL1 HGNC ENSG00000254656 37 0 0.00 11 2 15.38 - - - SAA2 0 genome.wustl.edu 37 11 18269511 18269511 + Silent SNP G G T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 11 18269511 18269511 G T SNP SAA2 ENST00000256733 human ensembl 69_37n -1 known silent c.48 p.V16 0.030 pirsf_Serum_amyloid_A pfam_Serum_amyloid_A,smart_Serum_amyloid_A,pirsf_Serum_amyloid_A,prints_Serum_amyloid_A - no_errors SAA2 HGNC ENSG00000134339 109 0 0.00 81 9 10.00 - - - SEPT2 0 genome.wustl.edu 37 2 242275429 242275429 + Missense_Mutation SNP T T C TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 2 242275429 242275429 T C SNP SEPT2 ENST00000360051 human ensembl 69_37n +1 known missense c.257 p.V86A 0.998 pfam_Cell_div_GTP-bd,pirsf_Septin,prints_Septin2 pfam_Cell_div_GTP-bd,pirsf_Septin,prints_Septin2 - no_errors SEPT2 HGNC ENSG00000168385 59 0 0.00 38 9 19.15 - - - SH3BP1 0 genome.wustl.edu 37 22 38046694 38046694 + Silent SNP T T G TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 22 38046694 38046694 T G SNP SH3BP1 ENST00000357436 human ensembl 69_37n +1 known silent c.1560 p.A520 0.004 NULL pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors SH3BP1 HGNC ENSG00000100092 76 0 0.00 10 44 81.48 - - - SHISA9 0 genome.wustl.edu 37 16 13329149 13329149 + Frame_Shift_Del DEL G G - TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 16 13329149 13329149 G - DEL SHISA9 ENST00000558583 human ensembl 69_37n +1 known frame_shift_del c.1281 p.G428fs 1.000 NULL NULL - no_errors SHISA9 HGNC ENSG00000237515 61 0 0.00 37 12 24.49 - - - SLC12A3 0 genome.wustl.edu 37 16 56936397 56936397 + Missense_Mutation SNP G G A TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 16 56936397 56936397 G A SNP SLC12A3 ENST00000438926 human ensembl 69_37n +1 known missense c.2860 p.E954K 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A3 HGNC ENSG00000070915 27 0 0.00 9 16 64.00 - - - SLC35E3 0 genome.wustl.edu 37 12 69158496 69158496 + Silent SNP C C T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 12 69158496 69158496 C T SNP SLC35E3 ENST00000398004 human ensembl 69_37n +1 known silent c.768 p.F256 0.997 pfam_DUF250,pfam_DMT pfam_DUF250,pfam_DMT - no_errors SLC35E3 HGNC ENSG00000175782 92 0 0.00 118 16 11.94 - - - SMURF2 0 genome.wustl.edu 37 17 62558993 62558993 + Missense_Mutation SNP G G C TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 17 62558993 62558993 G C SNP SMURF2 ENST00000262435 human ensembl 69_37n -1 known missense c.1108 p.R370G 1.000 superfamily_HECT pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors SMURF2 HGNC ENSG00000108854 78 0 0.00 82 15 15.46 - - - SNAI1 0 genome.wustl.edu 37 20 48604479 48604479 + Silent SNP C C G TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 20 48604479 48604479 C G SNP SNAI1 ENST00000244050 human ensembl 69_37n +1 known silent c.681 p.L227 0.994 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI1 HGNC ENSG00000124216 41 0 0.00 68 12 15.00 - - - SSPO 0 genome.wustl.edu 37 7 149477329 149477329 + RNA SNP G G A TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 7 149477329 149477329 G A SNP SSPO ENST00000262089 human ensembl 69_37n +1 known rna NULL NULL 0.999 - - - no_errors SSPO HGNC ENSG00000197558 34 0 0.00 19 16 45.71 - - - STK32A 0 genome.wustl.edu 37 5 146619205 146619205 + Missense_Mutation SNP C C T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 5 146619205 146619205 C T SNP STK32A ENST00000397936 human ensembl 69_37n +1 known missense c.8 p.A3V 1.000 NULL 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 STK32A HGNC ENSG00000169302 49 0 0.00 11 19 63.33 - - - STX3 0 genome.wustl.edu 37 11 59554574 59554574 + Missense_Mutation SNP A A G TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 11 59554574 59554574 A G SNP STX3 ENST00000337979 human ensembl 69_37n +1 known missense c.179 p.Y60C 1.000 pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX3 HGNC ENSG00000166900 60 0 0.00 15 46 75.41 - - - TAB3 0 genome.wustl.edu 37 X 30877660 30877660 + Missense_Mutation SNP G G C TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 X 30877660 30877660 G C SNP TAB3 ENST00000288422 human ensembl 69_37n -1 known missense c.46 p.L16V 1.000 pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB3 HGNC ENSG00000157625 61 0 0.00 33 8 19.51 - - - TIMM44 0 genome.wustl.edu 37 19 7998980 7998980 + Silent SNP G G A TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 19 7998980 7998980 G A SNP TIMM44 ENST00000270538 human ensembl 69_37n -1 known silent c.537 p.L179 0.936 pirsf_Tim44,tigrfam_Tim44 pfam_Tim44-related/Ribosome_L45,smart_Tim44-related/Ribosome_L45,pirsf_Tim44,tigrfam_Tim44 - no_errors TIMM44 HGNC ENSG00000104980 50 0 0.00 39 10 20.41 - - - TMPRSS11A 0 genome.wustl.edu 37 4 68797734 68797734 + Silent SNP G G A TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 4 68797734 68797734 G A SNP TMPRSS11A ENST00000334830 human ensembl 69_37n -1 known silent c.306 p.I102 1.000 pirsf_Pept_S1A_HAT/DESC1,pfam_SEA pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1_S6,pfam_SEA,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS11A HGNC ENSG00000187054 76 0 0.00 35 5 12.50 - - - TMPRSS13 0 genome.wustl.edu 37 11 117780640 117780640 + Silent SNP C C T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 11 117780640 117780640 C T SNP TMPRSS13 ENST00000445164 human ensembl 69_37n -1 known silent c.990 p.A330 0.006 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_TMPRSS13,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_TMPRSS13,prints_Peptidase_S1A,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6 - no_errors TMPRSS13 HGNC ENSG00000137747 22 0 0.00 27 15 35.71 - - - TRRAP 0 genome.wustl.edu 37 7 98565273 98565273 + Missense_Mutation SNP G G A TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 7 98565273 98565273 G A SNP TRRAP ENST00000456197 human ensembl 69_37n +1 novel missense c.6608 p.R2203K 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TRRAP HGNC ENSG00000196367 45 0 0.00 25 13 34.21 - - - TTN 0 genome.wustl.edu 37 2 179623810 179623810 + Missense_Mutation SNP C C T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 2 179623810 179623810 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.10204 p.E3402K 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 60 0 0.00 39 6 13.33 - - - TUBB8 0 genome.wustl.edu 37 10 93104 93104 + Missense_Mutation SNP C C T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 10 93104 93104 C T SNP TUBB8 ENST00000328974 human ensembl 69_37n -1 known missense c.1228 p.E410K 1.000 superfamily_Tub_FtsZ_C,prints_Gamma_tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB8 HGNC ENSG00000173876 81 0 0.00 50 34 40.48 - - - USP24 0 genome.wustl.edu 37 1 55566622 55566622 + Missense_Mutation SNP C C T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 1 55566622 55566622 C T SNP USP24 ENST00000294383 human ensembl 69_37n -1 known missense c.5161 p.D1721N 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19 - no_errors USP24 HGNC ENSG00000162402 59 0 0.00 25 27 51.92 - - - VLDLR 0 genome.wustl.edu 37 9 2650444 2650444 + Missense_Mutation SNP G G A TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 9 2650444 2650444 G A SNP VLDLR ENST00000382100 human ensembl 69_37n +1 known missense c.2179 p.D727N 1.000 superfamily_Growth_fac_rcpt,smart_EGF-like pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors VLDLR HGNC ENSG00000147852 48 0 0.00 29 12 29.27 - - - VPS13B 0 genome.wustl.edu 37 8 100779156 100779156 + Missense_Mutation SNP G G A TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 8 100779156 100779156 G A SNP VPS13B ENST00000358544 human ensembl 69_37n +1 known missense c.7280 p.R2427K 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 50 0 0.00 50 6 10.71 - - - VSIG1 0 genome.wustl.edu 37 X 107320311 107320311 + Silent SNP C C T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 X 107320311 107320311 C T SNP VSIG1 ENST00000415430 human ensembl 69_37n +1 known silent c.972 p.S324 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors VSIG1 HGNC ENSG00000101842 43 0 0.00 6 15 71.43 - - - YAF2 0 genome.wustl.edu 37 12 42629602 42629602 + Missense_Mutation SNP G G T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 12 42629602 42629602 G T SNP YAF2 ENST00000555248 human ensembl 69_37n -1 known missense c.350 p.A117D 0.992 NULL pfam_Znf_RanBP2,pfam_Uncharacterised_FAM123,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors YAF2 HGNC ENSG00000015153 63 0 0.00 18 33 64.71 - - - ZIC1 0 genome.wustl.edu 37 3 147128862 147128862 + Missense_Mutation SNP C C G TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 3 147128862 147128862 C G SNP ZIC1 ENST00000282928 human ensembl 69_37n +1 known missense c.963 p.I321M 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC1 HGNC ENSG00000152977 40 0 0.00 18 14 43.75 - - - ZNF142 0 genome.wustl.edu 37 2 219507867 219507867 + Silent SNP G G A TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 2 219507867 219507867 G A SNP ZNF142 ENST00000411696 human ensembl 69_37n -1 known silent c.3372 p.I1124 0.306 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 66 0 0.00 83 15 15.31 - - - ZNF146 0 genome.wustl.edu 37 19 36727858 36727858 + Silent SNP A A T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 19 36727858 36727858 A T SNP ZNF146 ENST00000443387 human ensembl 69_37n +1 known silent c.516 p.I172 0.955 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF146 HGNC ENSG00000167635 40 0 0.00 29 7 18.42 - - - ZNF527 0 genome.wustl.edu 37 19 37880273 37880273 + Missense_Mutation SNP C C T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 19 37880273 37880273 C T SNP ZNF527 ENST00000436120 human ensembl 69_37n +1 known missense c.1322 p.P441L 0.998 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 ZNF527 HGNC ENSG00000189164 29 0 0.00 46 18 28.12 - - - ZNF679 0 genome.wustl.edu 37 7 63727200 63727200 + Frame_Shift_Del DEL A A - TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afd1023-472c-4d73-a303-980c4e755a5d dfbfaff6-e80b-4c47-8539-5ef2723f6ed9 7 63727200 63727200 A - DEL ZNF679 ENST00000255746 human ensembl 69_37n +1 known frame_shift_del c.1189 p.N397fs 0.139 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 ZNF679 HGNC ENSG00000197123 48 0 0.00 15 2 11.76 - - -