Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ABCA10 0 genome.wustl.edu 37 17 67160217 67160217 + Missense_Mutation SNP T T C TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 17 67160217 67160217 T C SNP ABCA10 ENST00000269081 human ensembl 74_37 -1 known missense c.3361 p.I1121V 0.994 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 tier1 - - 65 0 0.00 37 12 24.49 ADAM7 0 genome.wustl.edu 37 8 24298629 24298629 + Missense_Mutation SNP C C A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 8 24298629 24298629 C A SNP ADAM7 ENST00000175238 human ensembl 74_37 +1 known missense c.8 p.P3H 0.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM7 HGNC ENSG00000069206 tier1 - - 97 0 0.00 42 19 31.15 ADAM7 0 genome.wustl.edu 37 8 24365023 24365023 + Missense_Mutation SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 8 24365023 24365023 G A SNP ADAM7 ENST00000175238 human ensembl 74_37 +1 known missense c.2239 p.A747T 0.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM7 HGNC ENSG00000069206 tier1 - - 113 0 0.00 63 26 29.21 ADCY7 0 genome.wustl.edu 37 16 50335099 50335099 + Missense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 16 50335099 50335099 C T SNP ADCY7 ENST00000254235 human ensembl 74_37 +1 known missense c.1342 p.R448C 0.209 pfam_A/G_cyclase,superfamily_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 tier1 - - 216 0 0.00 160 65 28.89 ADI1 0 genome.wustl.edu 37 2 3502816 3502816 + Missense_Mutation SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 2 3502816 3502816 G A SNP ADI1 ENST00000327435 human ensembl 74_37 -1 known missense c.458 p.P153L 0.993 pfam_Acireductn_dOase_family,pfam_AraC-bd,superfamily_RmlC_Cupin pfam_Acireductn_dOase_family,pfam_Cupin_2,pfam_AraC-bd,superfamily_RmlC_Cupin - no_errors ADI1 HGNC ENSG00000182551 tier1 - - 93 0 0.00 44 25 36.23 ADIPOQ-AS1 0 genome.wustl.edu 37 3 186572507 186572507 + RNA SNP A A T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 3 186572507 186572507 A T SNP ADIPOQ-AS1 ENST00000422718 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ADIPOQ-AS1 HGNC ENSG00000226482 tier1 - - 71 0 0.00 26 10 27.78 ADRA2C 0 genome.wustl.edu 37 4 3769693 3769693 + Nonsense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 4 3769693 3769693 C T SNP ADRA2C ENST00000330055 human ensembl 74_37 +1 known nonsense c.1360 p.R454* 0.997 prints_ADRA2C_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2C_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA2C HGNC ENSG00000184160 tier1 - - 66 0 0.00 60 19 24.05 AGO1 0 genome.wustl.edu 37 1 36379442 36379442 + Splice_Site SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 1 36379442 36379442 G A SNP AGO1 ENST00000373204 human ensembl 74_37 +1 known splice_site c.1583-1 e13-1 1.000 - - - no_errors AGO1 HGNC ENSG00000092847 tier1 - - 61 0 0.00 46 18 27.69 AKR1E2 0 genome.wustl.edu 37 10 4882000 4882000 + Missense_Mutation SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 10 4882000 4882000 G A SNP AKR1E2 ENST00000298375 human ensembl 74_37 +1 known missense c.662 p.R221H 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1E2 HGNC ENSG00000165568 tier1 - - 57 0 0.00 49 4 7.55 ALDH8A1 0 genome.wustl.edu 37 6 135254110 135254110 + Missense_Mutation SNP A A G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 6 135254110 135254110 A G SNP ALDH8A1 ENST00000265605 human ensembl 74_37 -1 known missense c.653 p.L218P 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH8A1 HGNC ENSG00000118514 tier1 - - 46 0 0.00 41 4 8.89 ALS2 0 genome.wustl.edu 37 2 202626143 202626143 + Missense_Mutation SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 2 202626143 202626143 G T SNP ALS2 ENST00000264276 human ensembl 74_37 -1 known missense c.574 p.P192T 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_RCC1/BLIP-II,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens - no_errors ALS2 HGNC ENSG00000003393 tier1 - - 67 0 0.00 64 4 5.80 AMT 0 genome.wustl.edu 37 3 49457771 49457771 + Missense_Mutation SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 3 49457771 49457771 G A SNP AMT ENST00000273588 human ensembl 74_37 -1 known missense c.344 p.T115I 1.000 pfam_GCV_T_N,pirsf_GcvT,tigrfam_GcvT pfam_GCV_T_N,pfam_GCV_T_C,pirsf_GcvT,tigrfam_GcvT - no_errors AMT HGNC ENSG00000145020 tier1 - - 63 0 0.00 45 30 40.00 AMY1C 0 genome.wustl.edu 37 1 104297202 104297202 + Silent SNP T T C TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 1 104297202 104297202 T C SNP AMY1C ENST00000370079 human ensembl 74_37 +1 known silent c.960 p.H320 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 AMY1C HGNC ENSG00000187733 tier1 - - 317 0 0.00 226 46 16.91 ANO4 0 genome.wustl.edu 37 12 101188629 101188629 + RNA SNP A A G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 12 101188629 101188629 A G SNP ANO4 ENST00000551148 human ensembl 74_37 +1 putative rna NULL NULL 0.999 - - - no_errors ANO4 HGNC ENSG00000151572 tier1 - - 13 0 0.00 8 5 38.46 ARHGAP33 0 genome.wustl.edu 37 19 36279303 36279303 + Missense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 19 36279303 36279303 C T SNP ARHGAP33 ENST00000007510 human ensembl 74_37 +1 known missense c.3836 p.S1279F 0.628 NULL pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ENSG00000004777 tier1 - - 53 0 0.00 32 24 42.86 ARHGEF15 0 genome.wustl.edu 37 17 8222159 8222159 + Missense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 17 8222159 8222159 C T SNP ARHGEF15 ENST00000361926 human ensembl 74_37 +1 known missense c.1964 p.S655L 0.970 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 tier1 - - 30 0 0.00 15 6 28.57 ASIC4 0 genome.wustl.edu 37 2 220396564 220396564 + Missense_Mutation SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 2 220396564 220396564 G T SNP ASIC4 ENST00000347842 human ensembl 74_37 +1 known missense c.1048 p.G350C 1.000 pfam_Na+channel_ASC,prints_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC4 HGNC ENSG00000072182 67 0 0.00 38 2 5.00 ATAD2 0 genome.wustl.edu 37 8 124335278 124335279 + Frame_Shift_Ins INS - - T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 8 124335278 124335279 - T INS ATAD2 ENST00000287394 human ensembl 74_37 -1 known frame_shift_ins c.4031_4030 p.S1344fs 0.997:1.000 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 tier1 80 0 0.00 58 24 29.27 ATP2C1 0 genome.wustl.edu 37 3 130716512 130716512 + Missense_Mutation SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 3 130716512 130716512 G A SNP ATP2C1 ENST00000393221 human ensembl 74_37 +1 known missense c.2408 p.S803N 1.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMR1 pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2C1 HGNC ENSG00000017260 tier1 - - 73 0 0.00 64 4 5.88 AZI2 0 genome.wustl.edu 37 3 28365409 28365409 + RNA SNP A A G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 3 28365409 28365409 A G SNP AZI2 ENST00000295748 human ensembl 74_37 -1 known rna NULL NULL 0.391 - - - no_errors AZI2 HGNC ENSG00000163512 tier1 - - 10 0 0.00 6 6 50.00 BCL9L 0 genome.wustl.edu 37 11 118773129 118773129 + Silent SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 11 118773129 118773129 C T SNP BCL9L ENST00000334801 human ensembl 74_37 -1 known silent c.1323 p.G441 0.169 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 tier1 - - 13 0 0.00 9 5 35.71 BMP1 0 genome.wustl.edu 37 8 22035217 22035217 + Missense_Mutation SNP C C A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 8 22035217 22035217 C A SNP BMP1 ENST00000354870 human ensembl 74_37 +1 known missense c.868 p.L290I 0.742 NULL pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A - no_errors BMP1 HGNC ENSG00000168487 tier1 - - 61 0 0.00 40 14 25.93 BRD3 0 genome.wustl.edu 37 9 136913402 136913402 + Missense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 9 136913402 136913402 C T SNP BRD3 ENST00000303407 human ensembl 74_37 -1 known missense c.889 p.E297K 1.000 superfamily_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 tier1 - - 29 0 0.00 13 9 40.91 C11orf74 0 genome.wustl.edu 37 11 36669570 36669570 + Missense_Mutation SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 11 36669570 36669570 G T SNP C11orf74 ENST00000334307 human ensembl 74_37 +1 known missense c.363 p.L121F 0.934 NULL NULL - no_errors C11orf74 HGNC ENSG00000166352 tier1 - - 95 0 0.00 74 29 28.16 C17orf85 0 genome.wustl.edu 37 17 3743435 3743435 + Missense_Mutation SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 17 3743435 3743435 G T SNP C17orf85 ENST00000389005 human ensembl 74_37 -1 known missense c.314 p.A105D 1.000 NULL pfam_DUF2414 - no_errors C17orf85 HGNC ENSG00000074356 tier1 - - 88 0 0.00 66 4 5.71 C19orf55 0 genome.wustl.edu 37 19 36253035 36253035 + Missense_Mutation SNP C C G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 19 36253035 36253035 C G SNP C19orf55 ENST00000396908 human ensembl 74_37 +1 known missense c.427 p.Q143E 0.007 NULL NULL - no_errors C19orf55 HGNC ENSG00000167595 tier1 - - 105 0 0.00 38 37 49.33 C9orf78 0 genome.wustl.edu 37 9 132596001 132596001 + RNA DEL A A - TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 9 132596001 132596001 A - DEL C9orf78 ENST00000461762 human ensembl 74_37 -1 known rna NULL NULL 0.115 - - - no_errors C9orf78 HGNC ENSG00000136819 tier1 36 0 0.00 19 3 13.64 CAPN5 0 genome.wustl.edu 37 11 76804733 76804733 + Missense_Mutation SNP C C G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 11 76804733 76804733 C G SNP CAPN5 ENST00000278559 human ensembl 74_37 +1 known missense c.171 p.I57M 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN5 HGNC ENSG00000149260 tier1 - - 53 0 0.00 24 17 41.46 CASC5 0 genome.wustl.edu 37 15 40911203 40911203 + Missense_Mutation SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 15 40911203 40911203 G T SNP CASC5 ENST00000346991 human ensembl 74_37 +1 known missense c.447 p.Q149H 1.000 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 tier1 - - 86 0 0.00 60 4 6.25 CAV2 0 genome.wustl.edu 37 7 116139910 116139910 + Silent SNP C C G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 7 116139910 116139910 C G SNP CAV2 ENST00000222693 human ensembl 74_37 +1 known silent c.75 p.L25 0.003 pfam_Caveolin pfam_Caveolin - no_errors CAV2 HGNC ENSG00000105971 tier1 - - 122 0 0.00 89 46 34.07 CCDC106 0 genome.wustl.edu 37 19 56162854 56162854 + Missense_Mutation SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 19 56162854 56162854 G T SNP CCDC106 ENST00000308964 human ensembl 74_37 +1 known missense c.519 p.R173S 1.000 NULL NULL - no_errors CCDC106 HGNC ENSG00000173581 tier1 - - 30 0 0.00 19 8 29.63 CCDC136 0 genome.wustl.edu 37 7 128454861 128454861 + Missense_Mutation SNP C C G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 7 128454861 128454861 C G SNP CCDC136 ENST00000297788 human ensembl 74_37 +1 known missense c.2933 p.A978G 0.000 NULL NULL - no_errors CCDC136 HGNC ENSG00000128596 tier1 - - 77 0 0.00 58 16 21.62 CCIN 0 genome.wustl.edu 37 9 36170954 36170954 + Silent SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 9 36170954 36170954 G A SNP CCIN ENST00000335119 human ensembl 74_37 +1 known silent c.1455 p.R485 1.000 NULL pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors CCIN HGNC ENSG00000185972 35 0 0.00 31 3 8.82 CD101 0 genome.wustl.edu 37 1 117568494 117568494 + Missense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 1 117568494 117568494 C T SNP CD101 ENST00000256652 human ensembl 74_37 +1 known missense c.2792 p.S931L 0.955 smart_Ig_sub pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CD101 HGNC ENSG00000134256 30 0 0.00 23 8 25.81 CD59 0 genome.wustl.edu 37 11 33743972 33743972 + Missense_Mutation SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 11 33743972 33743972 G T SNP CD59 ENST00000351554 human ensembl 74_37 -1 known missense c.20 p.S7Y 0.000 NULL pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors CD59 HGNC ENSG00000085063 tier1 - - 65 0 0.00 68 4 5.56 CDHR3 0 genome.wustl.edu 37 7 105664924 105664924 + Missense_Mutation SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 7 105664924 105664924 G T SNP CDHR3 ENST00000317716 human ensembl 74_37 +1 known missense c.2174 p.G725V 0.997 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR3 HGNC ENSG00000128536 tier1 - - 87 0 0.00 57 4 6.56 CELA2A 0 genome.wustl.edu 37 1 15788089 15788089 + Missense_Mutation SNP T T C TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 1 15788089 15788089 T C SNP CELA2A ENST00000359621 human ensembl 74_37 +1 known missense c.163 p.Y55H 0.005 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CELA2A HGNC ENSG00000142615 tier1 - - 107 0 0.00 52 34 39.53 CEP70 0 genome.wustl.edu 37 3 138224144 138224144 + Missense_Mutation SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 3 138224144 138224144 G A SNP CEP70 ENST00000264982 human ensembl 74_37 -1 known missense c.1214 p.S405F 0.785 NULL pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CEP70 HGNC ENSG00000114107 tier1 - - 159 0 0.00 82 39 32.23 CHD7 0 genome.wustl.edu 37 8 61750713 61750713 + Missense_Mutation SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 8 61750713 61750713 G A SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known missense c.4432 p.E1478K 1.000 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 tier1 - - 113 0 0.00 74 32 30.19 CHN2 0 genome.wustl.edu 37 7 29440273 29440273 + Silent SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 7 29440273 29440273 C T SNP CHN2 ENST00000539406 human ensembl 74_37 +1 known silent c.630 p.Y210 1.000 smart_SH2 pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd - no_errors CHN2 HGNC ENSG00000106069 tier1 - - 37 0 0.00 40 11 21.57 CKAP5 0 genome.wustl.edu 37 11 46780957 46780957 + Missense_Mutation SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 11 46780957 46780957 G A SNP CKAP5 ENST00000415402 human ensembl 74_37 -1 known missense c.4430 p.A1477V 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 52 0 0.00 54 3 5.26 COL11A1 0 genome.wustl.edu 37 1 103467522 103467522 + Missense_Mutation SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 1 103467522 103467522 G A SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.2137 p.L713F 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 tier1 - - 125 0 0.00 89 36 28.80 COLEC12 0 genome.wustl.edu 37 18 334825 334825 + Missense_Mutation SNP C C G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 18 334825 334825 C G SNP COLEC12 ENST00000400256 human ensembl 74_37 -1 known missense c.1733 p.G578A 1.000 pfam_Collagen pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC ENSG00000158270 tier1 - - 54 0 0.00 32 20 37.74 CUL7 0 genome.wustl.edu 37 6 43005594 43005594 + Silent SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 6 43005594 43005594 C T SNP CUL7 ENST00000535468 human ensembl 74_37 -1 known silent c.5181 p.V1727 0.835 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 78 0 0.00 52 4 7.14 CYLD 0 genome.wustl.edu 37 16 50818239 50818239 + Splice_Site SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 16 50818239 50818239 G T SNP CYLD ENST00000311559 human ensembl 74_37 +1 known splice_site c.1827-1 e10-1 1.000 - - - no_errors CYLD HGNC ENSG00000083799 tier1 - - 95 0 0.00 90 27 23.08 DDX60 0 genome.wustl.edu 37 4 169197311 169197311 + Missense_Mutation SNP C C A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 4 169197311 169197311 C A SNP DDX60 ENST00000393743 human ensembl 74_37 -1 known missense c.2000 p.S667I 0.083 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 tier1 - - 58 0 0.00 35 16 31.37 DSCAM 0 genome.wustl.edu 37 21 41424027 41424027 + Silent SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 21 41424027 41424027 G T SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known silent c.5043 p.R1681 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 tier1 - - 82 0 0.00 54 23 29.87 DYRK1A 0 genome.wustl.edu 37 21 38865336 38865336 + Missense_Mutation SNP G G C TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 21 38865336 38865336 G C SNP DYRK1A ENST00000398960 human ensembl 74_37 +1 known missense c.969 p.Q323H 1.000 pfam_Prot_kinase_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_dom pfam_Prot_kinase_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_dom - no_errors DYRK1A HGNC ENSG00000157540 tier1 - - 75 0 0.00 54 29 34.94 ECSIT 0 genome.wustl.edu 37 19 11618777 11618777 + Silent SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 19 11618777 11618777 C T SNP ECSIT ENST00000592312 human ensembl 74_37 -1 putative silent c.477 p.K159 0.002 NULL pfam_ECSIT - no_errors ECSIT HGNC ENSG00000130159 tier1 - - 52 0 0.00 30 24 44.44 EFR3A 0 genome.wustl.edu 37 8 132991105 132991105 + Silent SNP A A T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 8 132991105 132991105 A T SNP EFR3A ENST00000254624 human ensembl 74_37 +1 known silent c.1338 p.G446 0.990 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors EFR3A HGNC ENSG00000132294 tier1 - - 67 0 0.00 48 23 32.39 EIF2D 0 genome.wustl.edu 37 1 206776495 206776495 + Silent SNP G G C TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 1 206776495 206776495 G C SNP EIF2D ENST00000271764 human ensembl 74_37 -1 known silent c.594 p.L198 0.001 NULL pfam_TIF_SUI1,superfamily_TIF_SUI1,superfamily_SWIB_MDM2_domain,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,pfscan_TIF_SUI1 - no_errors EIF2D HGNC ENSG00000143486 tier1 - - 69 0 0.00 50 22 30.56 EIF4G1 0 genome.wustl.edu 37 3 184044684 184044684 + Missense_Mutation SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 3 184044684 184044684 G T SNP EIF4G1 ENST00000352767 human ensembl 74_37 +1 known missense c.3362 p.R1121L 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 87 0 0.00 74 4 5.13 ENSG00000182873 0 genome.wustl.edu 37 1 2113342 2113342 + RNA SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 1 2113342 2113342 C T SNP ENSG00000182873 ENST00000333854 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-181G12.2 Clone_based_vega_gene ENSG00000182873 tier1 - - 67 0 0.00 64 32 33.33 ENSG00000213777 0 genome.wustl.edu 37 19 54007225 54007225 + RNA SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 19 54007225 54007225 C T SNP ENSG00000213777 ENST00000597004 human ensembl 74_37 +1 known rna NULL NULL 0.844 - - - no_errors CTD-2224J9.8 Clone_based_vega_gene ENSG00000213777 tier1 - - 8 0 0.00 5 5 50.00 ENSG00000232274 0 genome.wustl.edu 37 1 143189125 143189125 + RNA SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 1 143189125 143189125 G A SNP ENSG00000232274 ENST00000447389 human ensembl 74_37 -1 known rna NULL NULL 0.014 - - - no_errors RP11-782C8.2 Clone_based_vega_gene ENSG00000232274 tier1 rs201126579 - 20 0 0.00 17 5 22.73 ENSG00000233145 0 genome.wustl.edu 37 X 139100021 139100021 + RNA SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d X 139100021 139100021 G T SNP ENSG00000233145 ENST00000417426 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-364B14.1 Clone_based_vega_gene ENSG00000233145 tier1 - - 61 0 0.00 27 21 43.75 ENSG00000261839 0 genome.wustl.edu 37 6 28104687 28104687 + RNA SNP T T C TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 6 28104687 28104687 T C SNP ENSG00000261839 ENST00000565046 human ensembl 74_37 +1 known rna NULL NULL 0.097 - - - no_errors RP1-265C24.8 Clone_based_vega_gene ENSG00000261839 tier1 - - 237 0 0.00 164 64 27.95 EPHA2 0 genome.wustl.edu 37 1 16459852 16459852 + Nonsense_Mutation SNP C C A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 1 16459852 16459852 C A SNP EPHA2 ENST00000358432 human ensembl 74_37 -1 known nonsense c.1876 p.E626* 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA2 HGNC ENSG00000142627 tier1 - - 43 0 0.00 24 11 31.43 EPHB6 0 genome.wustl.edu 37 7 142564262 142564262 + Missense_Mutation SNP C C A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 7 142564262 142564262 C A SNP EPHB6 ENST00000392957 human ensembl 74_37 +1 known missense c.1486 p.Q496K 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB6 HGNC ENSG00000106123 32 0 0.00 29 2 6.45 ERCC4 0 genome.wustl.edu 37 16 14024574 14024574 + Missense_Mutation SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 16 14024574 14024574 G T SNP ERCC4 ENST00000311895 human ensembl 74_37 +1 known missense c.800 p.R267L 1.000 tigrfam_Rad1 pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1 - no_errors ERCC4 HGNC ENSG00000175595 tier1 rs143479220 - 76 0 0.00 54 4 6.90 ETFB 0 genome.wustl.edu 37 19 51857574 51857574 + Missense_Mutation SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 19 51857574 51857574 G A SNP ETFB ENST00000354232 human ensembl 74_37 -1 known missense c.319 p.P107S 0.000 NULL pfam_ETF_a/b_N,smart_ETF_a/b_N - no_errors ETFB HGNC ENSG00000105379 tier1 - - 45 0 0.00 35 13 27.08 EXOC1 0 genome.wustl.edu 37 4 56762915 56762915 + Missense_Mutation SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 4 56762915 56762915 G T SNP EXOC1 ENST00000346134 human ensembl 74_37 +1 known missense c.1986 p.K662N 1.000 pfam_Exocyst_Exoc1/SEC3 pfam_Exocyst_Exoc1/SEC3 - no_errors EXOC1 HGNC ENSG00000090989 65 0 0.00 44 4 8.33 FAM175B 0 genome.wustl.edu 37 10 126523241 126523241 + Nonsense_Mutation SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 10 126523241 126523241 G T SNP FAM175B ENST00000298492 human ensembl 74_37 +1 known nonsense c.949 p.E317* 1.000 NULL prints_FAM175_BRISC_cplx_Abro1_su,prints_FAM175 - no_errors FAM175B HGNC ENSG00000165660 73 0 0.00 45 3 6.25 FAM92A1P2 0 genome.wustl.edu 37 4 183960276 183960276 + RNA SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 4 183960276 183960276 C T SNP FAM92A1P2 ENST00000502308 human ensembl 74_37 +1 known rna NULL NULL 0.279 - - - no_errors FAM92A1P2 HGNC ENSG00000230219 tier1 - - 51 0 0.00 46 20 29.85 FAT3 0 genome.wustl.edu 37 11 92532140 92532140 + Silent SNP T T C TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 11 92532140 92532140 T C SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.5961 p.Y1987 0.963 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 95 0 0.00 43 23 34.85 FAT3 0 genome.wustl.edu 37 11 92532150 92532150 + Missense_Mutation SNP A A G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 11 92532150 92532150 A G SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.5971 p.I1991V 0.998 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 97 0 0.00 43 17 28.33 FBXO3 0 genome.wustl.edu 37 11 33763561 33763561 + Missense_Mutation SNP C C G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 11 33763561 33763561 C G SNP FBXO3 ENST00000265651 human ensembl 74_37 -1 known missense c.1309 p.D437H 0.949 NULL pfam_ApaG_domain,pfam_F-box_dom,superfamily_ApaG_domain,superfamily_F-box_dom,smart_F-box_dom,smart_SMI1/KNR4_like_dom,pfscan_ApaG_domain,pfscan_F-box_dom - no_errors FBXO3 HGNC ENSG00000110429 tier1 - - 35 0 0.00 17 11 39.29 FER1L4 0 genome.wustl.edu 37 20 34192495 34192495 + RNA SNP C C A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 20 34192495 34192495 C A SNP FER1L4 ENST00000426117 human ensembl 74_37 -1 known rna NULL NULL 0.815 - - - no_errors FER1L4 HGNC ENSG00000088340 tier1 - - 60 0 0.00 38 16 29.63 FLNC 0 genome.wustl.edu 37 7 128486431 128486431 + Silent SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 7 128486431 128486431 C T SNP FLNC ENST00000325888 human ensembl 74_37 +1 known silent c.4041 p.G1347 1.000 superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 tier1 - - 36 0 0.00 44 14 24.14 FN3K 0 genome.wustl.edu 37 17 80706816 80706816 + Missense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 17 80706816 80706816 C T SNP FN3K ENST00000300784 human ensembl 74_37 +1 known missense c.554 p.A185V 1.000 pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase - no_errors FN3K HGNC ENSG00000167363 tier1 - - 53 0 0.00 64 4 5.88 FOXC1 0 genome.wustl.edu 37 6 1612017 1612018 + In_Frame_Ins INS - - CGG TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 6 1612017 1612018 - CGG INS FOXC1 ENST00000380874 human ensembl 74_37 +1 known in_frame_ins c.1337_1338 p.450in_frame_insG 1.000:1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXC1 HGNC ENSG00000054598 tier1 13 0 0.00 9 5 35.71 FREM2 0 genome.wustl.edu 37 13 39261662 39261662 + Missense_Mutation SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 13 39261662 39261662 G A SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.181 p.A61T 0.024 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 tier1 - - 62 0 0.00 41 15 26.79 GIMAP2 0 genome.wustl.edu 37 7 150389763 150389763 + Missense_Mutation SNP A A C TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 7 150389763 150389763 A C SNP GIMAP2 ENST00000223293 human ensembl 74_37 +1 known missense c.389 p.K130T 0.571 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP2 HGNC ENSG00000106560 tier1 - - 59 0 0.00 45 18 28.57 GLI2 0 genome.wustl.edu 37 2 121726451 121726451 + Missense_Mutation SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 2 121726451 121726451 G A SNP GLI2 ENST00000361492 human ensembl 74_37 +1 known missense c.805 p.A269T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 71 0 0.00 66 4 5.63 GNAS 0 genome.wustl.edu 37 20 57484420 57484420 + Missense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 20 57484420 57484420 C T SNP GNAS ENST00000354359 human ensembl 74_37 +1 known missense c.604 p.R202C 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 tier1 rs11554273 - 98 0 0.00 71 26 26.80 GPR179 0 genome.wustl.edu 37 17 36483702 36483702 + Missense_Mutation SNP C C G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 17 36483702 36483702 C G SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known missense c.5750 p.R1917T 0.030 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 tier1 - - 80 0 0.00 46 16 25.81 GPS1 0 genome.wustl.edu 37 17 80011791 80011791 + Silent SNP A A G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 17 80011791 80011791 A G SNP GPS1 ENST00000355130 human ensembl 74_37 +1 known silent c.294 p.E98 1.000 NULL pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom - no_errors GPS1 HGNC ENSG00000169727 46 0 0.00 38 3 7.32 GTF2H3 0 genome.wustl.edu 37 12 124144761 124144761 + Missense_Mutation SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 12 124144761 124144761 G T SNP GTF2H3 ENST00000543341 human ensembl 74_37 +1 known missense c.906 p.K302N 1.000 NULL pfam_TFIIH_Tfb4/p34,tigrfam_TFIIH_Tfb4/p34 - no_errors GTF2H3 HGNC ENSG00000111358 tier1 - - 52 0 0.00 33 17 34.00 HIPK2 0 genome.wustl.edu 37 7 139416253 139416253 + Missense_Mutation SNP G G C TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 7 139416253 139416253 G C SNP HIPK2 ENST00000406875 human ensembl 74_37 -1 known missense c.581 p.S194C 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK2 HGNC ENSG00000064393 tier1 - - 44 0 0.00 26 18 40.91 HLA-A 0 genome.wustl.edu 37 6 29910684 29910685 + Frame_Shift_Ins INS - - GATA TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 6 29910684 29910685 - GATA INS HLA-A ENST00000376806 human ensembl 74_37 +1 known frame_shift_ins c.224_225 p.E77fs 0.072:0.061 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-A HGNC ENSG00000206503 tier1 73 0 0.00 71 8 10.13 HTT 0 genome.wustl.edu 37 4 3208383 3208383 + Missense_Mutation SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 4 3208383 3208383 G A SNP HTT ENST00000355072 human ensembl 74_37 +1 known missense c.5879 p.R1960H 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 tier1 - - 38 0 0.00 16 10 38.46 ICOSLG 0 genome.wustl.edu 37 21 45649509 45649509 + Silent SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 21 45649509 45649509 C T SNP ICOSLG ENST00000400379 human ensembl 74_37 -1 putative silent c.1326 p.L442 0.000 NULL pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors ICOSLG HGNC ENSG00000160223 tier1 - - 29 0 0.00 23 5 17.86 IFT140 0 genome.wustl.edu 37 16 1568310 1568310 + Silent SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 16 1568310 1568310 G A SNP IFT140 ENST00000426508 human ensembl 74_37 -1 known silent c.4089 p.L1363 0.999 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT140 HGNC ENSG00000187535 tier1 - - 43 0 0.00 28 13 31.71 IFT80 0 genome.wustl.edu 37 3 159976308 159976308 + RNA SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 3 159976308 159976308 G A SNP IFT80 ENST00000463240 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors IFT80 HGNC ENSG00000068885 tier1 - - 55 0 0.00 46 20 30.30 IL23R 0 genome.wustl.edu 37 1 67724812 67724812 + RNA SNP A A G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 1 67724812 67724812 A G SNP IL23R ENST00000473881 human ensembl 74_37 +1 known rna NULL NULL 0.351 - - - no_errors IL23R HGNC ENSG00000162594 tier1 - - 50 0 0.00 23 26 53.06 IL27 0 genome.wustl.edu 37 16 28511194 28511194 + Silent SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 16 28511194 28511194 C T SNP IL27 ENST00000356897 human ensembl 74_37 -1 known silent c.510 p.E170 0.003 superfamily_4_helix_cytokine-like_core superfamily_4_helix_cytokine-like_core - no_errors IL27 HGNC ENSG00000197272 41 0 0.00 32 3 8.57 ITFG2 0 genome.wustl.edu 37 12 2939666 2939666 + RNA SNP A A G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 12 2939666 2939666 A G SNP ITFG2 ENST00000552005 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ITFG2 HGNC ENSG00000111203 tier1 - - 12 0 0.00 6 4 40.00 ITGA11 0 genome.wustl.edu 37 15 68623367 68623367 + Missense_Mutation SNP C C A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 15 68623367 68623367 C A SNP ITGA11 ENST00000315757 human ensembl 74_37 -1 known missense c.1853 p.G618V 1.000 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA11 HGNC ENSG00000137809 tier1 - - 97 0 0.00 58 4 6.45 ITIH2 0 genome.wustl.edu 37 10 7780587 7780587 + Frame_Shift_Del DEL C C - TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 10 7780587 7780587 C - DEL ITIH2 ENST00000358415 human ensembl 74_37 +1 known frame_shift_del c.1961 p.L655fs 0.901 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH2 HGNC ENSG00000151655 tier1 75 0 0.00 49 32 39.51 ITK 0 genome.wustl.edu 37 5 156649947 156649947 + Silent SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 5 156649947 156649947 C T SNP ITK ENST00000422843 human ensembl 74_37 +1 known silent c.570 p.L190 0.001 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ITK HGNC ENSG00000113263 tier1 - - 77 0 0.00 45 21 31.82 KANSL1 0 genome.wustl.edu 37 17 44248467 44248467 + Missense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 17 44248467 44248467 C T SNP KANSL1 ENST00000262419 human ensembl 74_37 -1 known missense c.1043 p.R348Q 1.000 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 tier1 - - 82 0 0.00 40 38 48.72 KAT6A 0 genome.wustl.edu 37 8 41792007 41792007 + Missense_Mutation SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 8 41792007 41792007 G A SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.3731 p.A1244V 0.022 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 65 0 0.00 69 4 5.48 KBTBD3 0 genome.wustl.edu 37 11 105929763 105929763 + Missense_Mutation SNP G G C TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 11 105929763 105929763 G C SNP KBTBD3 ENST00000526793 human ensembl 74_37 -1 known missense c.62 p.P21R 0.994 pirsf_Kelch-like_gigaxonin pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD3 HGNC ENSG00000182359 tier1 - - 84 0 0.00 51 21 28.77 KCNAB1 0 genome.wustl.edu 37 3 155861167 155861167 + Nonsense_Mutation SNP C C A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 3 155861167 155861167 C A SNP KCNAB1 ENST00000471742 human ensembl 74_37 +1 known nonsense c.200 p.S67* 0.101 NULL pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB1 HGNC ENSG00000169282 59 0 0.00 35 2 5.41 KIAA0947 0 genome.wustl.edu 37 5 5463973 5463973 + Missense_Mutation SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 5 5463973 5463973 G A SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known missense c.4526 p.R1509H 0.307 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 tier1 - - 70 0 0.00 50 21 29.58 KIF13B 0 genome.wustl.edu 37 8 28980968 28980968 + Missense_Mutation SNP C C G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 8 28980968 28980968 C G SNP KIF13B ENST00000524189 human ensembl 74_37 -1 known missense c.3394 p.E1132Q 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 tier1 - - 64 0 0.00 32 13 28.89 KIF15 0 genome.wustl.edu 37 3 44819651 44819651 + Missense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 3 44819651 44819651 C T SNP KIF15 ENST00000438321 human ensembl 74_37 +1 known missense c.248 p.A83V 1.000 NULL NULL - no_errors KIF15 HGNC ENSG00000163808 tier1 - - 77 0 0.00 70 28 28.57 KIF20B 0 genome.wustl.edu 37 10 91528563 91528563 + Missense_Mutation SNP C C A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 10 91528563 91528563 C A SNP KIF20B ENST00000416354 human ensembl 74_37 +1 known missense c.5250 p.N1750K 0.001 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 tier1 - - 96 0 0.00 68 33 32.67 KLHL29 0 genome.wustl.edu 37 2 23914666 23914666 + Missense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 2 23914666 23914666 C T SNP KLHL29 ENST00000486442 human ensembl 74_37 +1 known missense c.1202 p.S401L 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL29 HGNC ENSG00000119771 tier1 - - 65 0 0.00 46 26 36.11 KMT2D 0 genome.wustl.edu 37 12 49420423 49420423 + Missense_Mutation SNP C C A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 12 49420423 49420423 C A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.15326 p.C5109F 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 - - 32 0 0.00 18 15 45.45 KMT2D 0 genome.wustl.edu 37 12 49441854 49441854 + Splice_Site SNP T T G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 12 49441854 49441854 T G SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known splice_site c.4132-2 e14-2 1.000 - - - no_errors KMT2D HGNC ENSG00000167548 tier1 - - 64 0 0.00 21 17 44.74 L3MBTL3 0 genome.wustl.edu 37 6 130374096 130374096 + Missense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 6 130374096 130374096 C T SNP L3MBTL3 ENST00000361794 human ensembl 74_37 +1 known missense c.542 p.A181V 0.080 NULL pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL3 HGNC ENSG00000198945 tier1 - - 52 0 0.00 59 4 6.35 LAMA5 0 genome.wustl.edu 37 20 60886979 60886979 + Missense_Mutation SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 20 60886979 60886979 G A SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.9632 p.T3211M 0.002 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 tier1 - - 208 0 0.00 117 70 36.65 LATS1 0 genome.wustl.edu 37 6 150005070 150005070 + Missense_Mutation SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 6 150005070 150005070 G T SNP LATS1 ENST00000253339 human ensembl 74_37 -1 known missense c.1155 p.S385R 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS1 HGNC ENSG00000131023 42 0 0.00 32 2 5.88 LDLRAD2 0 genome.wustl.edu 37 1 22148718 22148718 + RNA SNP C C G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 1 22148718 22148718 C G SNP LDLRAD2 ENST00000484271 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors LDLRAD2 HGNC ENSG00000187942 tier1 - - 142 0 0.00 68 31 31.31 LINC00470 0 genome.wustl.edu 37 18 1278582 1278582 + RNA SNP A A G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 18 1278582 1278582 A G SNP LINC00470 ENST00000269201 human ensembl 74_37 -1 known rna NULL NULL 0.053 - - - no_errors LINC00470 HGNC ENSG00000132204 tier1 - - 73 0 0.00 54 20 27.03 LMAN2 0 genome.wustl.edu 37 5 176761300 176761300 + Missense_Mutation SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 5 176761300 176761300 G A SNP LMAN2 ENST00000303127 human ensembl 74_37 -1 known missense c.895 p.L299F 1.000 NULL pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf - no_errors LMAN2 HGNC ENSG00000169223 tier1 - - 66 0 0.00 41 28 40.58 LOC100133301 0 genome.wustl.edu 37 1 16865725 16865725 + Silent SNP C C G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 1 16865725 16865725 C G SNP LOC100133301 ENST00000601199 human ensembl 74_37 +1 known silent c.165 p.V55 0.025 NULL NULL - no_errors AL355149.2 Clone_based_ensembl_gene ENSG00000268674 tier1 - - 70 0 0.00 42 19 31.15 LRBA 0 genome.wustl.edu 37 4 151604720 151604720 + Nonsense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 4 151604720 151604720 C T SNP LRBA ENST00000357115 human ensembl 74_37 -1 known nonsense c.5904 p.W1968* 1.000 pfam_DUF1088 pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 tier1 - - 90 0 0.00 50 23 31.51 LRFN2 0 genome.wustl.edu 37 6 40360338 40360338 + Missense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 6 40360338 40360338 C T SNP LRFN2 ENST00000338305 human ensembl 74_37 -1 known missense c.1714 p.V572M 0.998 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN2 HGNC ENSG00000156564 13 0 0.00 16 2 11.11 LRP2 0 genome.wustl.edu 37 2 170063036 170063036 + Missense_Mutation SNP C C G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 2 170063036 170063036 C G SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.7194 p.L2398F 1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 tier1 - - 82 0 0.00 55 37 40.22 LRP6 0 genome.wustl.edu 37 12 12317346 12317346 + Missense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 12 12317346 12317346 C T SNP LRP6 ENST00000261349 human ensembl 74_37 -1 known missense c.1913 p.R638Q 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP6 HGNC ENSG00000070018 tier1 - - 90 0 0.00 48 9 15.79 LTBP3 0 genome.wustl.edu 37 11 65315164 65315164 + Missense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 11 65315164 65315164 C T SNP LTBP3 ENST00000301873 human ensembl 74_37 -1 known missense c.1975 p.V659M 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP3 HGNC ENSG00000168056 tier1 - - 68 0 0.00 47 31 39.74 MAS1 0 genome.wustl.edu 37 6 160328513 160328513 + Missense_Mutation SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 6 160328513 160328513 G A SNP MAS1 ENST00000252660 human ensembl 74_37 +1 known missense c.526 p.E176K 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Proto-oncogene_Mas pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Proto-oncogene_Mas,prints_GPCR_Rhodpsn - no_errors MAS1 HGNC ENSG00000130368 tier1 - - 19 0 0.00 17 6 26.09 MBTPS2 0 genome.wustl.edu 37 X 21896680 21896681 + Frame_Shift_Ins INS - - A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d X 21896680 21896681 - A INS MBTPS2 ENST00000379484 human ensembl 74_37 +1 known frame_shift_ins c.1131_1132 p.S379fs 1.000:0.994 pfam_Peptidase_M50 pfam_Peptidase_M50,superfamily_PDZ,prints_MBTPS2 - no_errors MBTPS2 HGNC ENSG00000012174 tier1 56 0 0.00 22 30 57.69 MGA 0 genome.wustl.edu 37 15 42003256 42003256 + Missense_Mutation SNP T T A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 15 42003256 42003256 T A SNP MGA ENST00000219905 human ensembl 74_37 +1 known missense c.2793 p.H931Q 0.003 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 tier1 - - 81 0 0.00 46 29 38.67 MGRN1 0 genome.wustl.edu 37 16 4730035 4730035 + Missense_Mutation SNP T T G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 16 4730035 4730035 T G SNP MGRN1 ENST00000262370 human ensembl 74_37 +1 known missense c.1068 p.C356W 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors MGRN1 HGNC ENSG00000102858 tier1 - - 164 0 0.00 192 12 5.83 MT-RNR2 0 genome.wustl.edu 37 MT 1729 1729 + RNA SNP T T G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d MT 1729 1729 T G SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 - - 43 0 0.00 3 2 40.00 MT-RNR2 0 genome.wustl.edu 37 MT 3042 3042 + RNA SNP T T C TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d MT 3042 3042 T C SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 - - 257 0 0.00 8 77 90.59 MTMR8 0 genome.wustl.edu 37 X 63569873 63569873 + Missense_Mutation SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d X 63569873 63569873 G T SNP MTMR8 ENST00000374852 human ensembl 74_37 -1 known missense c.546 p.F182L 1.000 pfam_Myotubularin-like_Pase_dom pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat - no_errors MTMR8 HGNC ENSG00000102043 tier1 - - 79 0 0.00 61 4 6.15 MTOR 0 genome.wustl.edu 37 1 11187803 11187803 + Missense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 1 11187803 11187803 C T SNP MTOR ENST00000361445 human ensembl 74_37 -1 known missense c.6094 p.E2032K 1.000 pfam_Rapamycin-bd_dom,superfamily_Rapamycin-bd_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 tier1 - - 54 0 0.00 21 17 44.74 MTUS1 0 genome.wustl.edu 37 8 17542007 17542007 + Missense_Mutation SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 8 17542007 17542007 G T SNP MTUS1 ENST00000262102 human ensembl 74_37 -1 known missense c.2668 p.P890T 0.984 NULL superfamily_Ferritin-like_SF - no_errors MTUS1 HGNC ENSG00000129422 66 0 0.00 46 3 6.12 MUC4 0 genome.wustl.edu 37 3 195511581 195511581 + Silent SNP A A G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 3 195511581 195511581 A G SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known silent c.6870 p.P2290 0.019 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 - - 245 0 0.00 195 50 20.41 MYT1 0 genome.wustl.edu 37 20 62844938 62844938 + Silent SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 20 62844938 62844938 G A SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known silent c.1569 p.E523 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 tier1 - - 65 0 0.00 36 12 25.00 N6AMT2 0 genome.wustl.edu 37 13 21331503 21331503 + RNA SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 13 21331503 21331503 G T SNP N6AMT2 ENST00000460374 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors N6AMT2 HGNC ENSG00000150456 tier1 - - 46 0 0.00 23 10 30.30 NAALADL1 0 genome.wustl.edu 37 11 64815123 64815123 + Missense_Mutation SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 11 64815123 64815123 G A SNP NAALADL1 ENST00000358658 human ensembl 74_37 -1 known missense c.1504 p.P502S 0.986 pfam_Peptidase_M28 pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALADL1 HGNC ENSG00000168060 tier1 - - 54 0 0.00 40 20 33.33 NARFL 0 genome.wustl.edu 37 16 784156 784156 + RNA SNP C C G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 16 784156 784156 C G SNP NARFL ENST00000562862 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NARFL HGNC ENSG00000103245 tier1 - - 64 0 0.00 34 24 41.38 NBEAL1 0 genome.wustl.edu 37 2 204058577 204058577 + Silent SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 2 204058577 204058577 C T SNP NBEAL1 ENST00000449802 human ensembl 74_37 +1 known silent c.6894 p.D2298 0.094 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 tier1 - - 94 0 0.00 48 28 36.84 NEB 0 genome.wustl.edu 37 2 152436107 152436107 + Silent SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 2 152436107 152436107 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.16449 p.S5483 0.061 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 - - 34 0 0.00 23 5 17.86 NFKBIZ 0 genome.wustl.edu 37 3 101575938 101575938 + Missense_Mutation SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 3 101575938 101575938 G T SNP NFKBIZ ENST00000326172 human ensembl 74_37 +1 known missense c.1846 p.A616S 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,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 NFKBIZ HGNC ENSG00000144802 59 0 0.00 29 2 6.45 NIPBL 0 genome.wustl.edu 37 5 37045679 37045679 + Missense_Mutation SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 5 37045679 37045679 G T SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.6478 p.D2160Y 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 tier1 rs147054690 - 134 0 0.00 85 5 5.56 NKX2-5 0 genome.wustl.edu 37 5 172661786 172661786 + Missense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 5 172661786 172661786 C T SNP NKX2-5 ENST00000329198 human ensembl 74_37 -1 known missense c.301 p.D101N 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-5 HGNC ENSG00000183072 tier1 - - 91 0 0.00 63 23 26.74 NLRP4 0 genome.wustl.edu 37 19 56369442 56369442 + Missense_Mutation SNP T T G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 19 56369442 56369442 T G SNP NLRP4 ENST00000301295 human ensembl 74_37 +1 known missense c.683 p.F228C 0.897 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC ENSG00000160505 tier1 - - 68 0 0.00 47 23 32.86 NPHP3 0 genome.wustl.edu 37 3 132432010 132432010 + Frame_Shift_Del DEL T T - TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 3 132432010 132432010 T - DEL NPHP3 ENST00000337331 human ensembl 74_37 -1 known frame_shift_del c.1078 p.S360fs 1.000 superfamily_P-loop_NTPase pfam_TPR_1,pfam_TPR-3,superfamily_P-loop_NTPase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NPHP3 HGNC ENSG00000113971 tier1 157 0 0.00 93 54 36.73 NPHP4 0 genome.wustl.edu 37 1 5925321 5925321 + Silent SNP C C A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 1 5925321 5925321 C A SNP NPHP4 ENST00000378156 human ensembl 74_37 -1 known silent c.3657 p.L1219 1.000 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 tier1 - - 74 0 0.00 48 27 36.00 NRK 0 genome.wustl.edu 37 X 105183880 105183880 + Missense_Mutation SNP C C G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d X 105183880 105183880 C G SNP NRK ENST00000428173 human ensembl 74_37 +1 known missense c.3817 p.L1273V 1.000 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 tier1 - - 32 0 0.00 14 15 51.72 NTNG1 0 genome.wustl.edu 37 1 108023343 108023343 + Missense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 1 108023343 108023343 C T SNP NTNG1 ENST00000370068 human ensembl 74_37 +1 known missense c.1501 p.R501W 0.997 NULL pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC ENSG00000162631 tier1 - - 44 0 0.00 32 4 11.11 OR5AS1 0 genome.wustl.edu 37 11 55798042 55798042 + Missense_Mutation SNP A A G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 11 55798042 55798042 A G SNP OR5AS1 ENST00000313555 human ensembl 74_37 +1 known missense c.148 p.N50D 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AS1 HGNC ENSG00000181785 tier1 - - 83 0 0.00 50 25 33.33 OR6C65 0 genome.wustl.edu 37 12 55794948 55794948 + Silent SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 12 55794948 55794948 G T SNP OR6C65 ENST00000379665 human ensembl 74_37 +1 known silent c.636 p.V212 0.011 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR6C65 HGNC ENSG00000205328 tier1 - - 95 0 0.00 63 12 16.00 OR7E94P 0 genome.wustl.edu 37 4 80508948 80508948 + RNA SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 4 80508948 80508948 G A SNP OR7E94P ENST00000601375 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors OR7E94P HGNC ENSG00000249646 tier1 - - 56 0 0.00 32 12 27.27 OR8D2 0 genome.wustl.edu 37 11 124189277 124189277 + Missense_Mutation SNP C C G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 11 124189277 124189277 C G SNP OR8D2 ENST00000357438 human ensembl 74_37 -1 known missense c.817 p.V273L 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D2 HGNC ENSG00000197263 tier1 - - 80 0 0.00 49 35 41.18 OTOA 0 genome.wustl.edu 37 16 21716574 21716574 + Missense_Mutation SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 16 21716574 21716574 G T SNP OTOA ENST00000286149 human ensembl 74_37 +1 known missense c.1107 p.K369N 0.947 NULL NULL - no_errors OTOA HGNC ENSG00000155719 43 0 0.00 52 3 5.45 PCDHA4 0 genome.wustl.edu 37 5 140187662 140187662 + Missense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 5 140187662 140187662 C T SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known missense c.890 p.P297L 0.006 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 tier1 - - 86 0 0.00 41 12 22.64 PDE4DIP 0 genome.wustl.edu 37 1 144859760 144859760 + Missense_Mutation SNP T T G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 1 144859760 144859760 T G SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.6324 p.Q2108H 1.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 tier1 - - 60 0 0.00 45 5 10.00 PET112 0 genome.wustl.edu 37 4 152601009 152601009 + Missense_Mutation SNP C C A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 4 152601009 152601009 C A SNP PET112 ENST00000263985 human ensembl 74_37 -1 known missense c.1366 p.D456Y 0.695 pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Apn/Gln-ADT_bsu pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Apn/Gln-ADT_bsu - no_errors PET112 HGNC ENSG00000059691 tier1 - - 97 0 0.00 49 28 36.36 PHF2 0 genome.wustl.edu 37 9 96420446 96420446 + Missense_Mutation SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 9 96420446 96420446 G T SNP PHF2 ENST00000359246 human ensembl 74_37 +1 known missense c.1167 p.K389N 0.997 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 71 0 0.00 76 4 5.00 PIDD 0 genome.wustl.edu 37 11 801462 801462 + Missense_Mutation SNP G G C TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 11 801462 801462 G C SNP PIDD ENST00000347755 human ensembl 74_37 -1 known missense c.1465 p.R489G 0.950 pfam_ZU5,pfscan_ZU5 pfam_Peptidase_S68_pidd,pfam_Death_domain,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5 - no_errors PIDD HGNC ENSG00000177595 tier1 - - 59 0 0.00 40 12 23.08 PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 3 178952085 178952085 A T SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.3140 p.H1047L 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 tier1 rs121913279 - 53 0 0.00 36 11 23.40 PIP5K1A 0 genome.wustl.edu 37 1 151219428 151219428 + Nonsense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 1 151219428 151219428 C T SNP PIP5K1A ENST00000414290 human ensembl 74_37 +1 known nonsense c.499 p.Q167* 0.994 NULL pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1A HGNC ENSG00000143398 tier1 - - 59 0 0.00 33 23 41.07 PLCB1 0 genome.wustl.edu 37 20 8707959 8707959 + Missense_Mutation SNP G G C TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 20 8707959 8707959 G C SNP PLCB1 ENST00000338037 human ensembl 74_37 +1 known missense c.1682 p.R561T 1.000 pirsf_PLC-beta,pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 tier1 - - 35 0 0.00 13 13 50.00 PLCE1 0 genome.wustl.edu 37 10 95993828 95993828 + Missense_Mutation SNP A A T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 10 95993828 95993828 A T SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known missense c.1973 p.K658I 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 tier1 - - 66 0 0.00 46 29 38.67 PLCG2 0 genome.wustl.edu 37 16 81942086 81942086 + Silent SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 16 81942086 81942086 G A SNP PLCG2 ENST00000359376 human ensembl 74_37 +1 known silent c.1623 p.T541 0.592 pfam_SH2,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_SH2,pirsf_PLC-gamma,pfscan_SH2 pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC ENSG00000197943 tier1 - - 116 0 0.00 68 30 30.61 POLR2M 0 genome.wustl.edu 37 15 57999364 57999364 + RNA SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 15 57999364 57999364 C T SNP POLR2M ENST00000464308 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors POLR2M HGNC ENSG00000255529 tier1 - - 50 0 0.00 31 8 20.51 POU4F2 0 genome.wustl.edu 37 4 147561949 147561949 + Missense_Mutation SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 4 147561949 147561949 G T SNP POU4F2 ENST00000281321 human ensembl 74_37 +1 known missense c.1219 p.A407S 1.000 smart_Homeobox_dom pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F2 HGNC ENSG00000151615 24 0 0.00 30 2 6.25 PRAMEF10 0 genome.wustl.edu 37 1 12954550 12954550 + Missense_Mutation SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 1 12954550 12954550 G A SNP PRAMEF10 ENST00000235347 human ensembl 74_37 -1 known missense c.733 p.R245C 0.001 NULL NULL - no_errors PRAMEF10 HGNC ENSG00000187545 tier1 - - 303 0 0.00 163 103 38.58 PSD 0 genome.wustl.edu 37 10 104168709 104168709 + RNA SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 10 104168709 104168709 G A SNP PSD ENST00000461698 human ensembl 74_37 -1 known rna NULL NULL 0.395 - - - no_errors PSD HGNC ENSG00000059915 tier1 - - 13 0 0.00 4 5 55.56 PSG6 0 genome.wustl.edu 37 19 43411757 43411757 + Missense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 19 43411757 43411757 C T SNP PSG6 ENST00000292125 human ensembl 74_37 -1 known missense c.956 p.R319H 0.001 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG6 HGNC ENSG00000170848 tier1 - - 289 0 0.00 198 90 31.25 PSMC3 0 genome.wustl.edu 37 11 47444219 47444219 + Missense_Mutation SNP C C A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 11 47444219 47444219 C A SNP PSMC3 ENST00000298852 human ensembl 74_37 -1 known missense c.790 p.G264C 1.000 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC3 HGNC ENSG00000165916 tier1 - - 77 0 0.00 43 30 41.10 PXDNL 0 genome.wustl.edu 37 8 52384761 52384761 + Missense_Mutation SNP A A C TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 8 52384761 52384761 A C SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.798 p.I266M 0.997 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 tier1 - - 86 0 0.00 45 24 34.78 RABGAP1L 0 genome.wustl.edu 37 1 174652677 174652677 + Missense_Mutation SNP T T G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 1 174652677 174652677 T G SNP RABGAP1L ENST00000251507 human ensembl 74_37 +1 known missense c.1842 p.D614E 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1L HGNC ENSG00000152061 tier1 - - 105 0 0.00 74 34 31.19 RABL5 0 genome.wustl.edu 37 7 100958483 100958483 + Missense_Mutation SNP A A G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 7 100958483 100958483 A G SNP RABL5 ENST00000315322 human ensembl 74_37 -1 known missense c.490 p.Y164H 1.000 NULL pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase - no_errors RABL5 HGNC ENSG00000128581 tier1 - - 85 0 0.00 71 24 25.26 RAC1 0 genome.wustl.edu 37 7 6426904 6426904 + Missense_Mutation SNP A A T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 7 6426904 6426904 A T SNP RAC1 ENST00000356142 human ensembl 74_37 +1 known missense c.97 p.I33F 1.000 pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAC1 HGNC ENSG00000136238 tier1 - - 139 0 0.00 69 22 24.18 RIN2 0 genome.wustl.edu 37 20 19981627 19981627 + RNA SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 20 19981627 19981627 G T SNP RIN2 ENST00000484638 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RIN2 HGNC ENSG00000132669 tier1 - - 40 0 0.00 34 4 10.53 RLF 0 genome.wustl.edu 37 1 40702482 40702482 + Missense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 1 40702482 40702482 C T SNP RLF ENST00000372771 human ensembl 74_37 +1 known missense c.2108 p.A703V 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 tier1 - - 82 0 0.00 71 4 5.33 ROPN1L 0 genome.wustl.edu 37 5 10442275 10442275 + RNA SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 5 10442275 10442275 G T SNP ROPN1L ENST00000510520 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors ROPN1L HGNC ENSG00000145491 tier1 - - 62 0 0.00 55 4 6.78 RPL3 0 genome.wustl.edu 37 22 39710147 39710147 + Missense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 22 39710147 39710147 C T SNP RPL3 ENST00000216146 human ensembl 74_37 -1 known missense c.916 p.D306N 0.998 pfam_Ribosomal_L3,superfamily_Transl_B-barrel pfam_Ribosomal_L3,superfamily_Transl_B-barrel - no_errors RPL3 HGNC ENSG00000100316 tier1 - - 50 0 0.00 29 17 36.96 RPL8 0 genome.wustl.edu 37 8 146015317 146015317 + Missense_Mutation SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 8 146015317 146015317 G A SNP RPL8 ENST00000262584 human ensembl 74_37 -1 known missense c.646 p.H216Y 1.000 pfam_Ribosomal_L2_C,superfamily_Translation_prot_SH3-like,pirsf_Ribosomal_L2 pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold,pirsf_Ribosomal_L2 - no_errors RPL8 HGNC ENSG00000161016 tier1 - - 54 0 0.00 30 15 33.33 S1PR1 0 genome.wustl.edu 37 1 101705189 101705189 + Missense_Mutation SNP A A G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 1 101705189 101705189 A G SNP S1PR1 ENST00000305352 human ensembl 74_37 +1 known missense c.649 p.I217V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG1_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors S1PR1 HGNC ENSG00000170989 tier1 - - 20 0 0.00 13 5 27.78 SAMD4B 0 genome.wustl.edu 37 19 39870719 39870719 + Silent SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 19 39870719 39870719 G A SNP SAMD4B ENST00000314471 human ensembl 74_37 +1 known silent c.1644 p.Q548 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4B HGNC ENSG00000179134 tier1 - - 90 0 0.00 38 24 38.71 SCUBE2 0 genome.wustl.edu 37 11 9113009 9113011 + In_Frame_Del DEL GCA GCA - TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 11 9113009 9113011 GCA - DEL SCUBE2 ENST00000457346 human ensembl 74_37 -1 known in_frame_del c.67_65 p.L22in_frame_del 0.986:0.983:0.981 NULL pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE2 HGNC ENSG00000175356 tier1 10 0 0.00 5 3 37.50 SF3A2 0 genome.wustl.edu 37 19 2243467 2243469 + In_Frame_Del DEL CCT CCT - TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 19 2243467 2243469 CCT - DEL SF3A2 ENST00000221494 human ensembl 74_37 +1 known in_frame_del c.50_52 p.S20in_frame_del 1.000:0.996:1.000 NULL smart_Znf_U1,pfscan_Znf_C2H2_matrin - no_errors SF3A2 HGNC ENSG00000104897 tier1 66 0 0.00 49 21 30.00 SHROOM3 0 genome.wustl.edu 37 4 77357289 77357289 + Silent SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 4 77357289 77357289 G T SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known silent c.84 p.L28 1.000 superfamily_PDZ,pfscan_PDZ pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 tier1 - - 55 0 0.00 59 4 6.35 SLC15A2 0 genome.wustl.edu 37 3 121616250 121616250 + Missense_Mutation SNP A A G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 3 121616250 121616250 A G SNP SLC15A2 ENST00000489711 human ensembl 74_37 +1 known missense c.209 p.Y70C 1.000 superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport - no_errors SLC15A2 HGNC ENSG00000163406 tier1 - - 46 0 0.00 26 19 42.22 SLC16A8 0 genome.wustl.edu 37 22 38478026 38478026 + Missense_Mutation SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 22 38478026 38478026 G T SNP SLC16A8 ENST00000320521 human ensembl 74_37 -1 known missense c.228 p.S76R 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A8 HGNC ENSG00000100156 tier1 - - 111 0 0.00 72 43 37.39 SLC22A11 0 genome.wustl.edu 37 11 64329782 64329782 + Silent SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 11 64329782 64329782 G T SNP SLC22A11 ENST00000301891 human ensembl 74_37 +1 known silent c.696 p.T232 0.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A11 HGNC ENSG00000168065 42 0 0.00 39 3 7.14 SLC6A12 0 genome.wustl.edu 37 12 306029 306029 + Silent SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 12 306029 306029 G A SNP SLC6A12 ENST00000359674 human ensembl 74_37 -1 known silent c.1095 p.I365 0.851 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_betaine - no_errors SLC6A12 HGNC ENSG00000111181 tier1 - - 52 0 0.00 27 29 51.79 SLC9A8 0 genome.wustl.edu 37 20 48471998 48471998 + Missense_Mutation SNP C C A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 20 48471998 48471998 C A SNP SLC9A8 ENST00000417961 human ensembl 74_37 +1 known missense c.641 p.S214Y 1.000 pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A8 HGNC ENSG00000197818 tier1 - - 115 0 0.00 66 34 34.00 SMARCA4 0 genome.wustl.edu 37 19 11132513 11132513 + Missense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 19 11132513 11132513 C T SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.2729 p.T910M 0.999 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 tier1 - - 37 0 0.00 36 22 37.93 SMIM8 0 genome.wustl.edu 37 6 88049924 88049924 + Missense_Mutation SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 6 88049924 88049924 G T SNP SMIM8 ENST00000229570 human ensembl 74_37 +1 known missense c.226 p.D76Y 1.000 NULL NULL - no_errors SMIM8 HGNC ENSG00000111850 57 0 0.00 33 2 5.71 SORCS3 0 genome.wustl.edu 37 10 106907465 106907465 + Missense_Mutation SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 10 106907465 106907465 G A SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known missense c.1393 p.D465N 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 tier1 - - 142 0 0.00 73 41 35.96 SP100 0 genome.wustl.edu 37 2 231334496 231334496 + Frame_Shift_Del DEL A A - TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 2 231334496 231334496 A - DEL SP100 ENST00000341950 human ensembl 74_37 +1 known frame_shift_del c.1350 p.K453fs 0.007 NULL pfam_Sp100 - no_errors SP100 HGNC ENSG00000067066 tier1 45 0 0.00 32 7 17.95 SP7 0 genome.wustl.edu 37 12 53723184 53723184 + Silent SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 12 53723184 53723184 G A SNP SP7 ENST00000303846 human ensembl 74_37 -1 known silent c.42 p.S14 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP7 HGNC ENSG00000170374 tier1 - - 48 0 0.00 23 12 34.29 SPAG5 0 genome.wustl.edu 37 17 26905265 26905265 + Missense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 17 26905265 26905265 C T SNP SPAG5 ENST00000321765 human ensembl 74_37 -1 known missense c.3400 p.E1134K 0.207 NULL NULL - no_errors SPAG5 HGNC ENSG00000076382 tier1 - - 34 0 0.00 15 11 42.31 SPOP 0 genome.wustl.edu 37 17 47699360 47699360 + Missense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 17 47699360 47699360 C T SNP SPOP ENST00000347630 human ensembl 74_37 -1 known missense c.148 p.E50K 1.000 pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH - no_errors SPOP HGNC ENSG00000121067 tier1 - - 108 0 0.00 56 20 26.32 STON1-GTF2A1L 0 genome.wustl.edu 37 2 48808503 48808503 + Nonsense_Mutation SNP C C G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 2 48808503 48808503 C G SNP STON1-GTF2A1L ENST00000309827 human ensembl 74_37 +1 known nonsense c.731 p.S244* 0.108 NULL pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1-GTF2A1L HGNC ENSG00000068781 tier1 - - 78 0 0.00 34 22 38.60 SYCP2 0 genome.wustl.edu 37 20 58441562 58441562 + Missense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 20 58441562 58441562 C T SNP SYCP2 ENST00000357552 human ensembl 74_37 -1 known missense c.4208 p.S1403N 0.456 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 tier1 - - 101 0 0.00 78 50 39.06 SYNM 0 genome.wustl.edu 37 15 99671376 99671376 + Missense_Mutation SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 15 99671376 99671376 G A SNP SYNM ENST00000336292 human ensembl 74_37 +1 known missense c.2808 p.M936I 0.000 NULL pfam_IF - no_errors SYNM HGNC ENSG00000182253 tier1 - - 39 0 0.00 27 22 44.90 TAF7 0 genome.wustl.edu 37 5 140699108 140699108 + Silent SNP T T C TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 5 140699108 140699108 T C SNP TAF7 ENST00000313368 human ensembl 74_37 -1 known silent c.504 p.R168 0.177 pfam_TAFII55_prot_cons_reg pfam_TAFII55_prot_cons_reg - no_errors TAF7 HGNC ENSG00000178913 tier1 - - 35 0 0.00 20 9 31.03 TANC2 0 genome.wustl.edu 37 17 61497497 61497497 + Missense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 17 61497497 61497497 C T SNP TANC2 ENST00000424789 human ensembl 74_37 +1 known missense c.4154 p.P1385L 0.065 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 tier1 - - 47 0 0.00 33 16 32.65 TBL2 0 genome.wustl.edu 37 7 72987738 72987738 + Missense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 7 72987738 72987738 C T SNP TBL2 ENST00000450285 human ensembl 74_37 -1 known missense c.487 p.G163R 0.282 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TBL2 HGNC ENSG00000106638 tier1 - - 42 0 0.00 33 8 19.51 TET3 0 genome.wustl.edu 37 2 74329136 74329136 + Missense_Mutation SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 2 74329136 74329136 G A SNP TET3 ENST00000409262 human ensembl 74_37 +1 known missense c.4816 p.G1606R 1.000 NULL NULL - no_errors TET3 HGNC ENSG00000187605 tier1 - - 9 0 0.00 13 9 40.91 TFDP2 0 genome.wustl.edu 37 3 141820587 141820587 + Missense_Mutation SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 3 141820587 141820587 G A SNP TFDP2 ENST00000489671 human ensembl 74_37 -1 known missense c.5 p.T2M 0.992 pirsf_Transcrpt_fac_DP pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP - no_errors TFDP2 HGNC ENSG00000114126 tier1 - - 96 0 0.00 63 24 27.59 TGFBR2 0 genome.wustl.edu 37 3 30715618 30715618 + Missense_Mutation SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 3 30715618 30715618 G A SNP TGFBR2 ENST00000359013 human ensembl 74_37 +1 known missense c.1351 p.A451T 1.000 pirsf_Transform_growth_fac-b_typ-2,pfam_Prot_kinase_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_dom pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors TGFBR2 HGNC ENSG00000163513 tier1 - - 87 0 0.00 61 32 34.41 THAP11 0 genome.wustl.edu 37 16 67877021 67877021 + Silent SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 16 67877021 67877021 C T SNP THAP11 ENST00000303596 human ensembl 74_37 +1 known silent c.564 p.I188 0.997 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP11 HGNC ENSG00000168286 tier1 - - 53 0 0.00 27 22 44.90 TNNI3 0 genome.wustl.edu 37 19 55668465 55668465 + Missense_Mutation SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 19 55668465 55668465 G A SNP TNNI3 ENST00000344887 human ensembl 74_37 -1 known missense c.61 p.R21C 0.998 pfam_Troponin-I_N pfam_Troponin,pfam_Troponin-I_N - no_errors TNNI3 HGNC ENSG00000129991 tier1 - - 119 0 0.00 81 45 35.71 TOM1L2 0 genome.wustl.edu 37 17 17783045 17783045 + Silent SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 17 17783045 17783045 G T SNP TOM1L2 ENST00000379504 human ensembl 74_37 -1 known silent c.673 p.R225 1.000 pfam_GAT,pirsf_TOM1,pfscan_GAT pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1L2 HGNC ENSG00000175662 tier1 - - 54 0 0.00 47 4 7.84 TPM3P9 0 genome.wustl.edu 37 19 53945524 53945524 + RNA SNP A A G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 19 53945524 53945524 A G SNP TPM3P9 ENST00000424846 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TPM3P9 HGNC ENSG00000241015 tier1 - - 83 0 0.00 36 19 34.55 TPM4 0 genome.wustl.edu 37 19 16186866 16186866 + Missense_Mutation SNP G G C TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 19 16186866 16186866 G C SNP TPM4 ENST00000344824 human ensembl 74_37 +1 known missense c.124 p.E42Q 1.000 NULL pfam_Tropomyosin,prints_Tropomyosin - no_errors TPM4 HGNC ENSG00000167460 tier1 - - 91 0 0.00 48 18 27.27 TPM4 0 genome.wustl.edu 37 19 16186908 16186908 + Missense_Mutation SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 19 16186908 16186908 G A SNP TPM4 ENST00000344824 human ensembl 74_37 +1 known missense c.166 p.E56K 1.000 pfam_Tropomyosin pfam_Tropomyosin,prints_Tropomyosin - no_errors TPM4 HGNC ENSG00000167460 tier1 - - 123 0 0.00 64 33 34.02 TPP2 0 genome.wustl.edu 37 13 103301602 103301602 + RNA DEL T T - TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 13 103301602 103301602 T - DEL TPP2 ENST00000490420 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TPP2 HGNC ENSG00000134900 tier1 27 0 0.00 29 6 17.14 TPTE2 0 genome.wustl.edu 37 13 20012288 20012288 + Missense_Mutation SNP T T A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 13 20012288 20012288 T A SNP TPTE2 ENST00000382977 human ensembl 74_37 -1 known missense c.979 p.T327S 0.984 pfam_Dual-sp_phosphatase_cat-dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 tier1 - - 131 0 0.00 75 34 31.19 TRAPPC5 0 genome.wustl.edu 37 19 7747244 7747244 + Missense_Mutation SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 19 7747244 7747244 G T SNP TRAPPC5 ENST00000317378 human ensembl 74_37 +1 known missense c.105 p.E35D 1.000 pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP-I_su5 pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP-I_su5 - no_errors TRAPPC5 HGNC ENSG00000181029 tier1 - - 37 0 0.00 27 4 12.90 TRIM35 0 genome.wustl.edu 37 8 27156030 27156030 + Missense_Mutation SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 8 27156030 27156030 G A SNP TRIM35 ENST00000305364 human ensembl 74_37 -1 known missense c.482 p.A161V 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM35 HGNC ENSG00000104228 tier1 - - 38 0 0.00 21 9 30.00 TRIM56 0 genome.wustl.edu 37 7 100730776 100730776 + Silent SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 7 100730776 100730776 G A SNP TRIM56 ENST00000306085 human ensembl 74_37 +1 known silent c.183 p.E61 0.017 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM56 HGNC ENSG00000169871 tier1 - - 22 0 0.00 36 10 21.74 TRIM56 0 genome.wustl.edu 37 7 100731162 100731162 + Missense_Mutation SNP G G C TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 7 100731162 100731162 G C SNP TRIM56 ENST00000306085 human ensembl 74_37 +1 known missense c.569 p.R190T 0.964 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM56 HGNC ENSG00000169871 tier1 - - 59 0 0.00 30 7 18.92 TRIM56 0 genome.wustl.edu 37 7 100730795 100730795 + Missense_Mutation SNP G G C TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 7 100730795 100730795 G C SNP TRIM56 ENST00000306085 human ensembl 74_37 +1 known missense c.202 p.E68Q 0.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM56 HGNC ENSG00000169871 21 0 0.00 29 9 22.50 TRMT44 0 genome.wustl.edu 37 4 8448312 8448312 + Missense_Mutation SNP A A G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 4 8448312 8448312 A G SNP TRMT44 ENST00000513449 human ensembl 74_37 +1 known missense c.35 p.K12R 0.005 NULL pfam_tRNA_uracil_MeTrfase - no_errors TRMT44 HGNC ENSG00000155275 tier1 - - 146 0 0.00 70 44 38.60 TRPA1 0 genome.wustl.edu 37 8 72935276 72935276 + Silent SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 8 72935276 72935276 G A SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known silent c.3225 p.I1075 1.000 NULL pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 tier1 - - 71 0 0.00 51 25 32.89 TSR1 0 genome.wustl.edu 37 17 2236267 2236267 + Silent SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 17 2236267 2236267 C T SNP TSR1 ENST00000301364 human ensembl 74_37 -1 known silent c.1293 p.E431 0.997 NULL pfam_BMS1_TSR1_C,pfam_AARP2CN,superfamily_Transl_B-barrel,smart_AARP2CN - no_errors TSR1 HGNC ENSG00000167721 tier1 - - 72 0 0.00 41 18 30.51 TTC29 0 genome.wustl.edu 37 4 147824756 147824756 + Missense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 4 147824756 147824756 C T SNP TTC29 ENST00000398886 human ensembl 74_37 -1 known missense c.604 p.D202N 1.000 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC29 HGNC ENSG00000137473 tier1 - - 103 0 0.00 60 19 24.05 TUBGCP3 0 genome.wustl.edu 37 13 113158952 113158952 + Nonsense_Mutation SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 13 113158952 113158952 G T SNP TUBGCP3 ENST00000261965 human ensembl 74_37 -1 known nonsense c.2163 p.Y721* 1.000 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP3 HGNC ENSG00000126216 77 0 0.00 66 4 5.71 TULP4 0 genome.wustl.edu 37 6 158924056 158924056 + Missense_Mutation SNP C C G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 6 158924056 158924056 C G SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known missense c.3361 p.P1121A 0.997 NULL pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 tier1 - - 122 0 0.00 44 30 40.54 UBE2D2 0 genome.wustl.edu 37 5 139003036 139003036 + Missense_Mutation SNP G G C TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 5 139003036 139003036 G C SNP UBE2D2 ENST00000398733 human ensembl 74_37 +1 known missense c.388 p.D130H 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2D2 HGNC ENSG00000131508 tier1 - - 82 0 0.00 50 39 43.82 UNC13A 0 genome.wustl.edu 37 19 17740954 17740954 + Missense_Mutation SNP C C A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 19 17740954 17740954 C A SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known missense c.3933 p.K1311N 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 tier1 - - 77 0 0.00 43 24 35.82 UNC79 0 genome.wustl.edu 37 14 94158230 94158230 + Missense_Mutation SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 14 94158230 94158230 G T SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.7591 p.A2531S 0.999 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 tier1 - - 63 0 0.00 43 5 10.42 USP47 0 genome.wustl.edu 37 11 11974404 11974404 + Missense_Mutation SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 11 11974404 11974404 G A SNP USP47 ENST00000399455 human ensembl 74_37 +1 known missense c.3760 p.E1254K 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP47 HGNC ENSG00000170242 tier1 - - 163 0 0.00 87 59 40.41 VARS 0 genome.wustl.edu 37 6 31747232 31747232 + Missense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 6 31747232 31747232 C T SNP VARS ENST00000375663 human ensembl 74_37 -1 known missense c.3370 p.D1124N 0.977 pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS HGNC ENSG00000204394 tier1 - - 51 0 0.00 31 16 34.04 VIL1 0 genome.wustl.edu 37 2 219294100 219294100 + Silent SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 2 219294100 219294100 G T SNP VIL1 ENST00000248444 human ensembl 74_37 +1 known silent c.660 p.P220 0.005 smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors VIL1 HGNC ENSG00000127831 44 0 0.00 34 2 5.56 VNN1 0 genome.wustl.edu 37 6 133015212 133015212 + Missense_Mutation SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 6 133015212 133015212 G T SNP VNN1 ENST00000367928 human ensembl 74_37 -1 known missense c.451 p.Q151K 0.001 pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors VNN1 HGNC ENSG00000112299 tier1 - - 84 0 0.00 76 4 5.00 WASF3 0 genome.wustl.edu 37 13 27255248 27255248 + Silent SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 13 27255248 27255248 G T SNP WASF3 ENST00000335327 human ensembl 74_37 +1 known silent c.774 p.L258 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF3 HGNC ENSG00000132970 tier1 - - 187 0 0.00 121 50 29.24 WDR16 0 genome.wustl.edu 37 17 9497542 9497542 + Missense_Mutation SNP C C G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 17 9497542 9497542 C G SNP WDR16 ENST00000299764 human ensembl 74_37 +1 known missense c.470 p.A157G 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR16 HGNC ENSG00000166596 tier1 - - 61 0 0.00 33 25 43.10 WHSC1 0 genome.wustl.edu 37 4 1980408 1980409 + Frame_Shift_Ins INS - - C TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 4 1980408 1980409 - C INS WHSC1 ENST00000382891 human ensembl 74_37 +1 known frame_shift_ins c.3870_3871 p.S1291fs 0.978:0.992 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom - no_errors WHSC1 HGNC ENSG00000109685 tier1 89 0 0.00 64 22 25.58 WWC1 0 genome.wustl.edu 37 5 167826550 167826550 + Missense_Mutation SNP C C A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 5 167826550 167826550 C A SNP WWC1 ENST00000265293 human ensembl 74_37 +1 known missense c.568 p.R190S 0.999 NULL pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWC1 HGNC ENSG00000113645 39 0 0.00 36 3 7.69 ZCCHC24 0 genome.wustl.edu 37 10 81145972 81145972 + Missense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 10 81145972 81145972 C T SNP ZCCHC24 ENST00000372333 human ensembl 74_37 -1 known missense c.676 p.G226R 0.000 NULL NULL - no_errors ZCCHC24 HGNC ENSG00000165424 tier1 - - 9 0 0.00 8 8 50.00 ZFC3H1 0 genome.wustl.edu 37 12 72021557 72021558 + Frame_Shift_Ins INS - - G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 12 72021557 72021558 - G INS ZFC3H1 ENST00000378743 human ensembl 74_37 -1 known frame_shift_ins c.4104_4103 p.Y1369fs 0.896:1.000 pfscan_TPR-contain_dom pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ENSG00000133858 tier1 91 0 0.00 64 18 21.95 ZNF266 0 genome.wustl.edu 37 19 9524911 9524911 + Missense_Mutation SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 19 9524911 9524911 G T SNP ZNF266 ENST00000361151 human ensembl 74_37 -1 known missense c.690 p.H230Q 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF266 HGNC ENSG00000174652 69 0 0.00 54 3 5.26 ZNF354C 0 genome.wustl.edu 37 5 178506868 178506868 + Nonsense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 5 178506868 178506868 C T SNP ZNF354C ENST00000315475 human ensembl 74_37 +1 known nonsense c.1435 p.Q479* 0.924 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 ZNF354C HGNC ENSG00000177932 tier1 - - 95 0 0.00 69 17 19.77 ZNF480 0 genome.wustl.edu 37 19 52825738 52825738 + Nonsense_Mutation SNP C C G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 19 52825738 52825738 C G SNP ZNF480 ENST00000468240 human ensembl 74_37 +1 known nonsense c.1235 p.S412* 0.074 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 ZNF480 HGNC ENSG00000198464 tier1 - - 74 0 0.00 48 22 31.43 ZNF492 0 genome.wustl.edu 37 19 22847630 22847630 + Missense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 19 22847630 22847630 C T SNP ZNF492 ENST00000456783 human ensembl 74_37 +1 known missense c.1159 p.H387Y 0.999 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF492 HGNC ENSG00000229676 tier1 - - 77 0 0.00 66 20 23.26 ZNF516 0 genome.wustl.edu 37 18 74153320 74153320 + Missense_Mutation SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 18 74153320 74153320 G A SNP ZNF516 ENST00000443185 human ensembl 74_37 -1 known missense c.1691 p.S564L 0.984 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF516 HGNC ENSG00000101493 11 0 0.00 7 5 41.67 ZNF607 0 genome.wustl.edu 37 19 38190339 38190339 + Silent SNP G G T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 19 38190339 38190339 G T SNP ZNF607 ENST00000355202 human ensembl 74_37 -1 known silent c.693 p.G231 0.783 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 ZNF607 HGNC ENSG00000198182 77 0 0.00 71 4 5.33 ZNF672 0 genome.wustl.edu 37 1 249142289 249142289 + Silent SNP C C G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 1 249142289 249142289 C G SNP ZNF672 ENST00000306562 human ensembl 74_37 +1 known silent c.816 p.R272 0.534 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF672 HGNC ENSG00000171161 8 0 0.00 8 3 27.27 ZNF90 0 genome.wustl.edu 37 19 20190747 20190747 + RNA DEL T T - TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 19 20190747 20190747 T - DEL ZNF90 ENST00000492328 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ZNF90 HGNC ENSG00000213988 tier1 16 0 0.00 25 5 16.67 ZSWIM6 0 genome.wustl.edu 37 5 60768825 60768825 + Missense_Mutation SNP G G A TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3c1f23e-b6f3-471f-9804-fe2539e311cd 77c96d3d-2e13-42c2-8ed4-d1708d5aca1d 5 60768825 60768825 G A SNP ZSWIM6 ENST00000252744 human ensembl 74_37 +1 novel missense c.994 p.E332K 1.000 NULL pfscan_Znf_SWIM,prints_Antifreeze_1 - no_errors ZSWIM6 HGNC ENSG00000130449 tier1 - - 35 0 0.00 28 18 39.13