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 ADAM21P1 0 genome.wustl.edu 37 14 70714087 70714087 + RNA SNP T T G TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 14 70714087 70714087 T G SNP ADAM21P1 ENST00000530196 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors ADAM21P1 HGNC ENSG00000235812 57 0 0.00 72 15 17.05 - - - AGTPBP1 0 genome.wustl.edu 37 9 88204545 88204545 + Missense_Mutation SNP G G A TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 9 88204545 88204545 G A SNP AGTPBP1 ENST00000376109 human ensembl 69_37n -1 known missense c.2656 p.R886W 1.000 pfam_Peptidase_M14 pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC ENSG00000135049 93 0 0.00 71 28 28.28 - - - AMY1A 0 genome.wustl.edu 37 1 104203222 104203222 + Missense_Mutation SNP T T A TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 1 104203222 104203222 T A SNP AMY1A ENST00000370083 human ensembl 69_37n +1 known missense c.1025 p.F342Y 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY1A HGNC ENSG00000237763 47 0 0.00 25 17 40.48 - - - APBB1IP 0 genome.wustl.edu 37 10 26825123 26825123 + Missense_Mutation SNP T T A TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 10 26825123 26825123 T A SNP APBB1IP ENST00000376236 human ensembl 69_37n +1 known missense c.1021 p.Y341N 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc - no_errors APBB1IP HGNC ENSG00000077420 26 0 0.00 34 11 24.44 - - - ATP13A1 0 genome.wustl.edu 37 19 19766896 19766896 + Missense_Mutation SNP T T C TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 19 19766896 19766896 T C SNP ATP13A1 ENST00000357324 human ensembl 69_37n -1 known missense c.1180 p.I394V 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_unknown-pump-sp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A1 HGNC ENSG00000105726 24 0 0.00 26 10 27.78 - - - C2CD2 0 genome.wustl.edu 37 21 43338233 43338233 + Missense_Mutation SNP G G A TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 21 43338233 43338233 G A SNP C2CD2 ENST00000380486 human ensembl 69_37n -1 known missense c.701 p.T234M 0.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors C2CD2 HGNC ENSG00000157617 32 0 0.00 34 16 32.00 - - - CACNA1C 0 genome.wustl.edu 37 12 2795355 2795355 + Missense_Mutation SNP G G C TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 12 2795355 2795355 G C SNP CACNA1C ENST00000399634 human ensembl 69_37n +1 known missense c.5917 p.E1973Q 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 58 0 0.00 25 26 50.98 - - - CKB 0 genome.wustl.edu 37 14 103988690 103988690 + Silent SNP C C T TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 14 103988690 103988690 C T SNP CKB ENST00000348956 human ensembl 69_37n -1 known silent c.141 p.T47 0.990 pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N - no_errors CKB HGNC ENSG00000166165 22 0 0.00 11 9 45.00 - - - CTSF 0 genome.wustl.edu 37 11 66335548 66335548 + Silent SNP A A G TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 11 66335548 66335548 A G SNP CTSF ENST00000310325 human ensembl 69_37n -1 known silent c.219 p.G73 0.030 NULL pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSF HGNC ENSG00000174080 10 0 0.00 5 6 30.00 - - - CUBN 0 genome.wustl.edu 37 10 16945996 16945996 + Silent SNP G G A TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 10 16945996 16945996 G A SNP CUBN ENST00000377833 human ensembl 69_37n -1 known silent c.8031 p.H2677 0.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 38 0 0.00 34 10 22.73 - - - DCHS2 0 genome.wustl.edu 37 4 155242117 155242117 + Missense_Mutation SNP T T A TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 4 155242117 155242117 T A SNP DCHS2 ENST00000357232 human ensembl 69_37n -1 known missense c.3069 p.R1023S 0.967 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 89 0 0.00 70 25 26.32 - - - DOCK8 0 genome.wustl.edu 37 9 420960 420960 + Missense_Mutation SNP T T A TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 9 420960 420960 T A SNP DOCK8 ENST00000453981 human ensembl 69_37n +1 known missense c.4035 p.S1345R 1.000 NULL pfam_DOCK,pfam_DUF3398,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 20 0 0.00 15 11 42.31 - - - DPCD 0 genome.wustl.edu 37 10 103360972 103360972 + Missense_Mutation SNP C C T TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 10 103360972 103360972 C T SNP DPCD ENST00000370151 human ensembl 69_37n +1 known missense c.283 p.R95C 1.000 NULL NULL - no_errors DPCD HGNC ENSG00000166171 56 0 0.00 23 33 58.93 - - - DUSP16 0 genome.wustl.edu 37 12 12640024 12640024 + Missense_Mutation SNP G G A TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 12 12640024 12640024 G A SNP DUSP16 ENST00000228862 human ensembl 69_37n -1 known missense c.629 p.P210L 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP16 HGNC ENSG00000111266 71 0 0.00 69 18 20.69 - - - EIF5B 0 genome.wustl.edu 37 2 99988165 99988165 + Silent SNP T T A TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 2 99988165 99988165 T A SNP EIF5B ENST00000289371 human ensembl 69_37n +1 known silent c.1524 p.A508 0.990 NULL pfam_ProtSyn_GTP-bd,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_TIF_IF2_dom3,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 86 0 0.00 67 32 32.32 - - - ERMP1 0 genome.wustl.edu 37 9 5830922 5830922 + Missense_Mutation SNP C C G TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 9 5830922 5830922 C G SNP ERMP1 ENST00000339450 human ensembl 69_37n -1 known missense c.445 p.V149L 0.012 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors ERMP1 HGNC ENSG00000099219 97 0 0.00 59 33 35.87 - - - FAM8A1 0 genome.wustl.edu 37 6 17608448 17608448 + Missense_Mutation SNP A A C TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 6 17608448 17608448 A C SNP FAM8A1 ENST00000259963 human ensembl 69_37n +1 known missense c.1120 p.K374Q 1.000 pfam_RDD pfam_RDD - no_errors FAM8A1 HGNC ENSG00000137414 146 0 0.00 186 48 20.51 - - - FBXO18 0 genome.wustl.edu 37 10 5951018 5951018 + Missense_Mutation SNP G G A TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 10 5951018 5951018 G A SNP FBXO18 ENST00000379999 human ensembl 69_37n +1 known missense c.1037 p.R346Q 1.000 NULL pfam_UvrD-like_ATP-bd,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO18 HGNC ENSG00000134452 74 0 0.00 58 11 15.94 - - - FUT4 0 genome.wustl.edu 37 11 94278445 94278445 + Silent SNP C C T TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 11 94278445 94278445 C T SNP FUT4 ENST00000358752 human ensembl 69_37n +1 known silent c.1146 p.T382 0.000 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT4 HGNC ENSG00000196371 9 0 0.00 20 5 20.00 - - - GRIA1 0 genome.wustl.edu 37 5 153026664 153026664 + Missense_Mutation SNP C C G TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 5 153026664 153026664 C G SNP GRIA1 ENST00000448073 human ensembl 69_37n +1 known missense c.427 p.L143V 1.000 pfam_ANF_lig-bd_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 GRIA1 HGNC ENSG00000155511 93 0 0.00 56 26 31.71 - - - ILF2 0 genome.wustl.edu 37 1 153636538 153636538 + Missense_Mutation SNP G G A TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 1 153636538 153636538 G A SNP ILF2 ENST00000361891 human ensembl 69_37n -1 known missense c.725 p.P242L 1.000 pfam_DZF,smart_DZF pfam_DZF,smart_DZF,pfscan_2-5-oligoadenylate_synth_N - no_errors ILF2 HGNC ENSG00000143621 68 0 0.00 82 24 22.64 - - - KCNK5 0 genome.wustl.edu 37 6 39162069 39162069 + Silent SNP G G A TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 6 39162069 39162069 G A SNP KCNK5 ENST00000359534 human ensembl 69_37n -1 known silent c.510 p.G170 0.086 NULL pfam_Ion_trans_2,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK5 HGNC ENSG00000164626 55 0 0.00 58 15 19.48 - - - KIAA1737 0 genome.wustl.edu 37 14 77580648 77580648 + Missense_Mutation SNP A A C TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 14 77580648 77580648 A C SNP KIAA1737 ENST00000361786 human ensembl 69_37n +1 known missense c.1187 p.H396P 0.497 NULL NULL - no_errors KIAA1737 HGNC ENSG00000198894 18 0 0.00 13 7 35.00 - - - KIFC1 0 genome.wustl.edu 37 6 33372827 33372827 + Missense_Mutation SNP C C T TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 6 33372827 33372827 C T SNP KIFC1 ENST00000428849 human ensembl 69_37n +1 known missense c.955 p.P319S 1.000 smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC1 HGNC ENSG00000237649 20 0 0.00 14 6 30.00 - - - KLHL8 0 genome.wustl.edu 37 4 88106441 88106441 + Nonsense_Mutation SNP G G A TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 4 88106441 88106441 G A SNP KLHL8 ENST00000273963 human ensembl 69_37n -1 known nonsense c.727 p.Q243* 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL8 HGNC ENSG00000145332 55 0 0.00 50 36 41.86 - - - LIPN 0 genome.wustl.edu 37 10 90524285 90524285 + Missense_Mutation SNP G G T TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 10 90524285 90524285 G T SNP LIPN ENST00000404459 human ensembl 69_37n +1 known missense c.345 p.W115C 1.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPN HGNC ENSG00000204020 87 0 0.00 50 48 48.98 - - - MGAM 0 genome.wustl.edu 37 7 141794269 141794269 + Silent SNP G G A TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 7 141794269 141794269 G A SNP MGAM ENST00000475668 human ensembl 69_37n +1 putative silent c.7281 p.A2427 0.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 71 0 0.00 47 40 45.98 - - - MTCH1 0 genome.wustl.edu 37 6 36940433 36940433 + Missense_Mutation SNP A A C TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 6 36940433 36940433 A C SNP MTCH1 ENST00000373627 human ensembl 69_37n -1 known missense c.901 p.S301A 1.000 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors MTCH1 HGNC ENSG00000137409 34 0 0.00 30 10 25.00 - - - MUC12 0 genome.wustl.edu 37 7 100637521 100637521 + Missense_Mutation SNP C C G TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 7 100637521 100637521 C G SNP MUC12 ENST00000379442 human ensembl 69_37n +1 known missense c.4106 p.T1369R 0.122 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 56 0 0.00 8 46 85.19 - - - NADKD1 0 genome.wustl.edu 37 5 36195293 36195293 + Missense_Mutation SNP T T C TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 5 36195293 36195293 T C SNP NADKD1 ENST00000397338 human ensembl 69_37n -1 known missense c.793 p.M265V 1.000 pirsf_ATP-NAD-like_euk pirsf_ATP-NAD-like_euk - no_errors NADKD1 HGNC ENSG00000152620 119 0 0.00 72 75 51.02 - - - NPR2 0 genome.wustl.edu 37 9 35794041 35794041 + Missense_Mutation SNP C C T TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 9 35794041 35794041 C T SNP NPR2 ENST00000342694 human ensembl 69_37n +1 known missense c.814 p.R272W 0.999 pfam_ANF_lig-bd_rcpt pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors NPR2 HGNC ENSG00000159899 52 0 0.00 14 38 73.08 - - - NRXN2 0 genome.wustl.edu 37 11 64416348 64416348 + Silent SNP A A G TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 11 64416348 64416348 A G SNP NRXN2 ENST00000265459 human ensembl 69_37n -1 known silent c.3141 p.N1047 0.891 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 24 0 0.00 22 13 37.14 - - - OR56A4 0 genome.wustl.edu 37 11 6024337 6024337 + Silent SNP C C T TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 11 6024337 6024337 C T SNP OR56A4 ENST00000330728 human ensembl 69_37n -1 known silent c.42 p.Q14 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR56A4 HGNC ENSG00000183389 78 0 0.00 75 21 21.88 - - - PLD5 0 genome.wustl.edu 37 1 242253225 242253225 + Missense_Mutation SNP G G T TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 1 242253225 242253225 G T SNP PLD5 ENST00000536534 human ensembl 69_37n -1 known missense c.1542 p.F514L 0.994 NULL smart_PLipase_D/transphosphatidylase - no_errors PLD5 HGNC ENSG00000180287 210 0 0.00 238 33 12.13 - - - PPM1D 0 genome.wustl.edu 37 17 58725291 58725291 + Missense_Mutation SNP G G A TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 17 58725291 58725291 G A SNP PPM1D ENST00000305921 human ensembl 69_37n +1 known missense c.865 p.V289M 1.000 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1D HGNC ENSG00000170836 83 0 0.00 111 29 20.71 - - - PTPRB 0 genome.wustl.edu 37 12 70974895 70974895 + Silent SNP G G A TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 12 70974895 70974895 G A SNP PTPRB ENST00000334414 human ensembl 69_37n -1 known silent c.2499 p.S833 0.001 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 77 0 0.00 42 49 53.85 - - - RAB14 0 genome.wustl.edu 37 9 123943767 123943767 + Silent SNP A A G TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 9 123943767 123943767 A G SNP RAB14 ENST00000373840 human ensembl 69_37n -1 known silent c.555 p.A185 0.945 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_Gtr1_RagA,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 RAB14 HGNC ENSG00000119396 46 0 0.00 14 44 75.86 - - - SCN11A 0 genome.wustl.edu 37 3 38892206 38892206 + Missense_Mutation SNP T T C TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 3 38892206 38892206 T C SNP SCN11A ENST00000302328 human ensembl 69_37n -1 known missense c.4093 p.S1365G 0.006 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 88 0 0.00 52 62 54.39 - - - SIRT2 0 genome.wustl.edu 37 19 39369929 39369929 + Missense_Mutation SNP G G A TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 19 39369929 39369929 G A SNP SIRT2 ENST00000249396 human ensembl 69_37n -1 known missense c.1036 p.R346W 0.998 pirsf_NAD-dep_deAcase_SIR2_euk pfam_NAD-dep_deAcase_sirtuin,pirsf_NAD-dep_deAcase_SIR2_euk,pfscan_NAD-dep_deAcase_sirtuin - no_errors SIRT2 HGNC ENSG00000068903 41 0 0.00 19 9 32.14 - - - SLC7A11 0 genome.wustl.edu 37 4 139144461 139144461 + Missense_Mutation SNP T T G TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 4 139144461 139144461 T G SNP SLC7A11 ENST00000280612 human ensembl 69_37n -1 known missense c.538 p.N180H 1.000 pfam_AA-permease_dom,pfam_AA_transpt_TM,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter pfam_AA-permease_dom,pfam_AA_transpt_TM,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter - no_errors SLC7A11 HGNC ENSG00000151012 81 0 0.00 86 23 21.10 - - - SPRY2 0 genome.wustl.edu 37 13 80910967 80910967 + Missense_Mutation SNP G G A TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 13 80910967 80910967 G A SNP SPRY2 ENST00000377102 human ensembl 69_37n -1 known missense c.874 p.R292C 1.000 pfam_Sprouty pfam_Sprouty - no_errors SPRY2 HGNC ENSG00000136158 52 0 0.00 10 15 60.00 - - - SRRM4 0 genome.wustl.edu 37 12 119591417 119591417 + Missense_Mutation SNP C C T TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 12 119591417 119591417 C T SNP SRRM4 ENST00000267260 human ensembl 69_37n +1 known missense c.1354 p.R452C 0.987 NULL NULL - no_errors SRRM4 HGNC ENSG00000139767 29 0 0.00 9 7 43.75 - - - TAF4 0 genome.wustl.edu 37 20 60578311 60578311 + Silent SNP G G C TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 20 60578311 60578311 G C SNP TAF4 ENST00000252996 human ensembl 69_37n -1 known silent c.2391 p.A797 0.026 NULL pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4 HGNC ENSG00000130699 75 0 0.00 63 23 26.74 - - - TCF7L2 0 genome.wustl.edu 37 10 114925317 114925317 + Frame_Shift_Del DEL A A - TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 10 114925317 114925317 A - DEL TCF7L2 ENST00000355995 human ensembl 69_37n +1 known frame_shift_del c.1446 p.K485fs 1.000 NULL pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TCF7L2 HGNC ENSG00000148737 9 0 0.00 7 2 22.22 - - - THBS1 0 genome.wustl.edu 37 15 39874617 39874619 + In_Frame_Del DEL GAA GAA - TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 15 39874617 39874619 GAA - DEL THBS1 ENST00000260356 human ensembl 69_37n +1 known in_frame_del c.291_293 p.K99in_frame_del 1.000:1.000:1.000 superfamily_ConA-like_lec_gl,smart_Laminin_G pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS1 HGNC ENSG00000137801 47 0 0.00 34 11 24.44 - - - TICRR 0 genome.wustl.edu 37 15 90167690 90167690 + Missense_Mutation SNP A A C TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 15 90167690 90167690 A C SNP TICRR ENST00000268138 human ensembl 69_37n +1 known missense c.4149 p.K1383N 0.001 NULL NULL - no_errors TICRR HGNC ENSG00000140534 49 0 0.00 41 13 24.07 - - - TP53 0 genome.wustl.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 17 7578212 7578212 G A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known nonsense c.637 p.R213* 0.893 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor 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 141 0 0.00 28 32 53.33 - - - TREML1 0 genome.wustl.edu 37 6 41122014 41122014 + Missense_Mutation SNP G G C TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 6 41122014 41122014 G C SNP TREML1 ENST00000426005 human ensembl 69_37n -1 known missense c.13 p.L5V 0.429 NULL pfam_Ig_V-set - no_errors TREML1 HGNC ENSG00000161911 30 0 0.00 51 8 13.56 - - - TRIM61 0 genome.wustl.edu 37 4 165890903 165890903 + Silent SNP T T C TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 4 165890903 165890903 T C SNP TRIM61 ENST00000329314 human ensembl 69_37n -1 known silent c.252 p.R84 0.015 NULL pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM61 HGNC ENSG00000183439 58 0 0.00 63 23 26.74 - - - ULK4 0 genome.wustl.edu 37 3 41938435 41938435 + Missense_Mutation SNP G G A TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 3 41938435 41938435 G A SNP ULK4 ENST00000301831 human ensembl 69_37n -1 known missense c.1409 p.S470L 0.685 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ULK4 HGNC ENSG00000168038 21 0 0.00 19 8 29.63 - - - USP32 0 genome.wustl.edu 37 17 58275761 58275761 + Silent SNP G G A TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 17 58275761 58275761 G A SNP USP32 ENST00000300896 human ensembl 69_37n -1 known silent c.3294 p.P1098 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_EF_hand_Ca-bd,smart_Pept_C19_DUSP,pfscan_EF_HAND_2,pfscan_Peptidase_C19,prints_Recoverin - no_errors USP32 HGNC ENSG00000170832 150 0 0.00 79 88 52.69 - - - VPS33A 0 genome.wustl.edu 37 12 122720362 122720362 + Missense_Mutation SNP G G A TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 12 122720362 122720362 G A SNP VPS33A ENST00000267199 human ensembl 69_37n -1 known missense c.1411 p.R471C 0.998 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS33A HGNC ENSG00000139719 96 0 0.00 101 32 24.06 - - - WRN 0 genome.wustl.edu 37 8 30958371 30958371 + Missense_Mutation SNP C C T TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 8 30958371 30958371 C T SNP WRN ENST00000298139 human ensembl 69_37n +1 known missense c.1988 p.T663M 0.849 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 107 0 0.00 19 27 58.70 - - - ZNF414 0 genome.wustl.edu 37 19 8577364 8577364 + Missense_Mutation SNP C C T TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 19 8577364 8577364 C T SNP ZNF414 ENST00000393927 human ensembl 69_37n -1 known missense c.437 p.R146H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF414 HGNC ENSG00000133250 69 0 0.00 56 55 48.25 - - - ZNF90 0 genome.wustl.edu 37 19 20228629 20228629 + Missense_Mutation SNP A A G TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 64fa29ff-534f-4b22-b0c4-513e8657edb1 f063a7c5-7db1-4c0a-864f-f9bbf945537e 19 20228629 20228629 A G SNP ZNF90 ENST00000418063 human ensembl 69_37n +1 known missense c.266 p.Q89R 0.005 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF90 HGNC ENSG00000213988 87 0 0.00 104 22 17.46 - - -