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 ABCA1 0 genome.wustl.edu 37 9 107554233 107554233 + Missense_Mutation SNP C C A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 9 107554233 107554233 C A SNP ABCA1 ENST00000374736 human ensembl 74_37 -1 known missense c.5804 p.G1935V 1.000 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 tier1 - - 40 0 0.00 33 4 10.81 ACTL6B 0 genome.wustl.edu 37 7 100243916 100243916 + Missense_Mutation SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 7 100243916 100243916 G A SNP ACTL6B ENST00000160382 human ensembl 74_37 -1 known missense c.1156 p.R386C 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL6B HGNC ENSG00000077080 tier1 - - 32 0 0.00 43 6 12.24 ADAMTS12 0 genome.wustl.edu 37 5 33891848 33891848 + Silent SNP C C T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 5 33891848 33891848 C T SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known silent c.114 p.P38 0.850 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 tier1 - - 126 0 0.00 73 37 33.64 AQP8 0 genome.wustl.edu 37 16 25232780 25232780 + Missense_Mutation SNP G G C TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 16 25232780 25232780 G C SNP AQP8 ENST00000219660 human ensembl 74_37 +1 known missense c.263 p.G88A 1.000 pfam_MIP,superfamily_Aquaporin-like,prints_MIP pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_8,prints_MIP - no_errors AQP8 HGNC ENSG00000103375 tier1 - - 79 0 0.00 60 28 31.82 ARID5B 0 genome.wustl.edu 37 10 63850780 63850780 + Missense_Mutation SNP A A G TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 10 63850780 63850780 A G SNP ARID5B ENST00000279873 human ensembl 74_37 +1 known missense c.1558 p.T520A 0.005 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5B HGNC ENSG00000150347 tier1 - - 73 0 0.00 47 75 61.48 ARID5B 0 genome.wustl.edu 37 10 63852064 63852064 + Missense_Mutation SNP C C G TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 10 63852064 63852064 C G SNP ARID5B ENST00000279873 human ensembl 74_37 +1 known missense c.2842 p.R948G 0.976 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5B HGNC ENSG00000150347 tier1 - - 135 0 0.00 157 44 21.89 ARMC3 0 genome.wustl.edu 37 10 23248465 23248467 + In_Frame_Del DEL AAG AAG - TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 10 23248465 23248467 AAG - DEL ARMC3 ENST00000298032 human ensembl 74_37 +1 known in_frame_del c.499_501 p.K168in_frame_del 0.992:1.000:1.000 pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC3 HGNC ENSG00000165309 tier1 78 0 0.00 48 14 22.58 ATG13 0 genome.wustl.edu 37 11 46686425 46686425 + Silent SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 11 46686425 46686425 G A SNP ATG13 ENST00000312040 human ensembl 74_37 +1 known silent c.816 p.Q272 1.000 NULL pfam_Autophagy-rel_p13 - no_errors ATG13 HGNC ENSG00000175224 tier1 - - 142 0 0.00 355 36 9.21 ATP10D 0 genome.wustl.edu 37 4 47578876 47578876 + Silent SNP C C T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 4 47578876 47578876 C T SNP ATP10D ENST00000273859 human ensembl 74_37 +1 known silent c.3453 p.F1151 1.000 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10D HGNC ENSG00000145246 tier1 - - 206 0 0.00 140 69 33.01 ATP7B 0 genome.wustl.edu 37 13 52544779 52544779 + Silent SNP C C A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 13 52544779 52544779 C A SNP ATP7B ENST00000242839 human ensembl 74_37 -1 known silent c.1392 p.G464 0.000 NULL pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ENSG00000123191 tier1 - - 122 0 0.00 226 37 14.07 BRINP3 0 genome.wustl.edu 37 1 190067613 190067613 + Missense_Mutation SNP T T G TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 1 190067613 190067613 T G SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known missense c.1836 p.L612F 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 tier1 - - 274 0 0.00 158 150 48.70 C10orf107 0 genome.wustl.edu 37 10 63441053 63441053 + Nonsense_Mutation SNP C C G TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 10 63441053 63441053 C G SNP C10orf107 ENST00000330194 human ensembl 74_37 +1 known nonsense c.53 p.S18* 0.033 NULL NULL - no_errors C10orf107 HGNC ENSG00000183346 tier1 - - 82 0 0.00 133 26 16.35 C1orf159 0 genome.wustl.edu 37 1 1019689 1019689 + Silent SNP C C T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 1 1019689 1019689 C T SNP C1orf159 ENST00000379339 human ensembl 74_37 -1 known silent c.654 p.L218 0.000 NULL NULL - no_errors C1orf159 HGNC ENSG00000131591 tier1 - - 38 0 0.00 24 8 25.00 C1orf85 0 genome.wustl.edu 37 1 156264607 156264607 + Silent SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 1 156264607 156264607 G A SNP C1orf85 ENST00000362007 human ensembl 74_37 -1 known silent c.321 p.G107 0.998 NULL NULL - no_errors C1orf85 HGNC ENSG00000198715 tier1 - - 125 0 0.00 228 54 19.08 C2CD3 0 genome.wustl.edu 37 11 73825523 73825523 + Missense_Mutation SNP C C T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 11 73825523 73825523 C T SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known missense c.1636 p.E546K 0.954 smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 tier1 - - 78 0 0.00 44 28 38.89 C3orf30 0 genome.wustl.edu 37 3 118865086 118865086 + Missense_Mutation SNP G G T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 3 118865086 118865086 G T SNP C3orf30 ENST00000295622 human ensembl 74_37 +1 known missense c.50 p.S17I 0.014 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C3orf30 HGNC ENSG00000163424 tier1 rs147064598 - 11 0 0.00 9 5 35.71 C9orf78 0 genome.wustl.edu 37 9 132595849 132595850 + RNA INS - - T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 9 132595849 132595850 - T INS C9orf78 ENST00000461762 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.032 - - - no_errors C9orf78 HGNC ENSG00000136819 tier1 35 0 0.00 50 3 5.66 CACNA1E 0 genome.wustl.edu 37 1 181754871 181754871 + Missense_Mutation SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 1 181754871 181754871 G A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.5702 p.R1901H 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 tier1 - - 173 0 0.00 148 34 18.68 CASC3 0 genome.wustl.edu 37 17 38320029 38320029 + Missense_Mutation SNP G G T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 17 38320029 38320029 G T SNP CASC3 ENST00000264645 human ensembl 74_37 +1 known missense c.1081 p.D361Y 1.000 NULL pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 tier1 - - 163 0 0.00 759 42 5.24 CCDC85A 0 genome.wustl.edu 37 2 56420473 56420473 + Nonsense_Mutation SNP G G T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 2 56420473 56420473 G T SNP CCDC85A ENST00000407595 human ensembl 74_37 +1 known nonsense c.1138 p.G380* 0.293 NULL pfam_DUF2216_coiled-coil - no_errors CCDC85A HGNC ENSG00000055813 tier1 - - 23 0 0.00 11 5 31.25 CCRN4L 0 genome.wustl.edu 37 4 139964296 139964296 + Missense_Mutation SNP G G C TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 4 139964296 139964296 G C SNP CCRN4L ENST00000280614 human ensembl 74_37 +1 known missense c.259 p.A87P 0.030 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors CCRN4L HGNC ENSG00000151014 tier1 - - 57 0 0.00 70 6 7.89 CCT5 0 genome.wustl.edu 37 5 10261761 10261761 + Silent SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 5 10261761 10261761 G A SNP CCT5 ENST00000280326 human ensembl 74_37 +1 known silent c.1083 p.E361 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_epsi pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi - no_errors CCT5 HGNC ENSG00000150753 tier1 - - 177 0 0.00 193 14 6.76 CDH18 0 genome.wustl.edu 37 5 19473790 19473790 + Missense_Mutation SNP T T C TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 5 19473790 19473790 T C SNP CDH18 ENST00000274170 human ensembl 74_37 -1 known missense c.1918 p.K640E 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH18 HGNC ENSG00000145526 tier1 rs200080046 - 183 0 0.00 115 69 37.30 CENPV 0 genome.wustl.edu 37 17 16253331 16253331 + Silent SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 17 16253331 16253331 G A SNP CENPV ENST00000299736 human ensembl 74_37 -1 known silent c.423 p.G141 1.000 NULL pfam_GFA/CENP-V,superfamily_Mss4-like - no_errors CENPV HGNC ENSG00000166582 tier1 - - 75 0 0.00 41 24 36.92 CKAP5 0 genome.wustl.edu 37 11 46784245 46784245 + Missense_Mutation SNP T T C TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 11 46784245 46784245 T C SNP CKAP5 ENST00000415402 human ensembl 74_37 -1 known missense c.3959 p.Y1320C 1.000 pfam_CLASP_N_dom,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 tier1 - - 91 0 0.00 200 31 13.42 CLEC9A 0 genome.wustl.edu 37 12 10205421 10205421 + RNA DEL T T - TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 12 10205421 10205421 T - DEL CLEC9A ENST00000544751 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CLEC9A HGNC ENSG00000197992 tier1 18 0 0.00 20 4 16.67 COG6 0 genome.wustl.edu 37 13 40293942 40293942 + Missense_Mutation SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 13 40293942 40293942 G A SNP COG6 ENST00000455146 human ensembl 74_37 +1 known missense c.1562 p.R521H 0.998 pfam_COG6 pfam_COG6 - no_errors COG6 HGNC ENSG00000133103 tier1 - - 72 0 0.00 55 22 28.57 COL1A2 0 genome.wustl.edu 37 7 94047816 94047816 + Silent SNP A A G TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 7 94047816 94047816 A G SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known silent c.1977 p.E659 0.981 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 tier1 - - 54 0 0.00 42 25 37.31 CR2 0 genome.wustl.edu 37 1 207647223 207647223 + Missense_Mutation SNP C C G TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 1 207647223 207647223 C G SNP CR2 ENST00000367057 human ensembl 74_37 +1 known missense c.2233 p.Q745E 0.221 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 tier1 - - 56 0 0.00 62 40 39.22 CYLD 0 genome.wustl.edu 37 16 50788310 50788310 + Silent SNP A A G TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 16 50788310 50788310 A G SNP CYLD ENST00000311559 human ensembl 74_37 +1 known silent c.888 p.L296 0.000 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Peptidase_C19/C67,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19/C67 - no_errors CYLD HGNC ENSG00000083799 tier1 - - 53 0 0.00 39 11 22.00 DHRS9 0 genome.wustl.edu 37 2 169939855 169939855 + Silent SNP C C T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 2 169939855 169939855 C T SNP DHRS9 ENST00000432060 human ensembl 74_37 +1 known silent c.510 p.I170 1.000 pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS9 HGNC ENSG00000073737 tier1 - - 74 0 0.00 220 32 12.70 DNAH11 0 genome.wustl.edu 37 7 21723500 21723500 + Missense_Mutation SNP C C A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 7 21723500 21723500 C A SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.5580 p.F1860L 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 tier1 - - 148 0 0.00 84 40 32.26 DNAH9 0 genome.wustl.edu 37 17 11845742 11845742 + Silent SNP G G C TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 17 11845742 11845742 G C SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known silent c.12783 p.R4261 0.976 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 tier1 - - 48 0 0.00 55 12 17.65 DPY19L3 0 genome.wustl.edu 37 19 32930797 32930797 + Missense_Mutation SNP A A G TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 19 32930797 32930797 A G SNP DPY19L3 ENST00000342179 human ensembl 74_37 +1 known missense c.836 p.D279G 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L3 HGNC ENSG00000178904 tier1 - - 131 0 0.00 114 7 5.79 DST 0 genome.wustl.edu 37 6 56394377 56394377 + Missense_Mutation SNP T T A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 6 56394377 56394377 T A SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.17371 p.N5791Y 1.000 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 141 0 0.00 64 63 49.22 DUSP9 0 genome.wustl.edu 37 X 152914821 152914821 + Missense_Mutation SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d X 152914821 152914821 G A SNP DUSP9 ENST00000342782 human ensembl 74_37 +1 known missense c.508 p.D170N 0.999 pirsf_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP9 HGNC ENSG00000130829 tier1 - - 24 0 0.00 7 50 87.72 DYNC2H1 0 genome.wustl.edu 37 11 103074470 103074470 + Missense_Mutation SNP G G T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 11 103074470 103074470 G T SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.8276 p.G2759V 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 46 0 0.00 22 9 29.03 EFCAB3 0 genome.wustl.edu 37 17 60464717 60464717 + Nonsense_Mutation SNP G G T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 17 60464717 60464717 G T SNP EFCAB3 ENST00000450662 human ensembl 74_37 +1 known nonsense c.247 p.G83* 0.005 NULL pfscan_EF_hand_dom - no_errors EFCAB3 HGNC ENSG00000172421 tier1 - - 92 0 0.00 236 32 11.94 ENSG00000234719 0 genome.wustl.edu 37 16 12031461 12031461 + Missense_Mutation SNP C C T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 16 12031461 12031461 C T SNP ENSG00000234719 ENST00000399147 human ensembl 74_37 -1 putative missense c.128 p.R43H 0.037 NULL NULL - no_errors RP11-166B2.1 Clone_based_vega_gene ENSG00000234719 tier1 - - 166 0 0.00 116 22 15.94 ENSG00000265194 0 genome.wustl.edu 37 9 21861902 21861903 + RNA INS - - T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 9 21861902 21861903 - T INS ENSG00000265194 ENST00000581788 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-70L8.4 Clone_based_vega_gene ENSG00000265194 tier1 37 0 0.00 38 3 7.32 EOMES 0 genome.wustl.edu 37 3 27760140 27760140 + Splice_Site SNP C C T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 3 27760140 27760140 C T SNP EOMES ENST00000449599 human ensembl 74_37 -1 known splice_site c.1318-1 e5-1 1.000 - - - no_errors EOMES HGNC ENSG00000163508 tier1 - - 79 0 0.00 71 27 27.55 EPHB2 0 genome.wustl.edu 37 1 23189649 23189649 + Missense_Mutation SNP A A G TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 1 23189649 23189649 A G SNP EPHB2 ENST00000400191 human ensembl 74_37 +1 known missense c.931 p.R311G 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_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_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,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 tier1 - - 62 0 0.00 46 22 32.35 ERBB3 0 genome.wustl.edu 37 12 56493724 56493724 + Missense_Mutation SNP G G T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 12 56493724 56493724 G T SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.3040 p.D1014Y 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 tier1 - - 80 0 0.00 59 19 24.36 ERICH1 0 genome.wustl.edu 37 8 623923 623923 + Missense_Mutation SNP T T G TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 8 623923 623923 T G SNP ERICH1 ENST00000262109 human ensembl 74_37 -1 known missense c.429 p.L143F 0.007 NULL NULL - no_errors ERICH1 HGNC ENSG00000104714 tier1 - - 113 0 0.00 82 32 28.07 ESPNP 0 genome.wustl.edu 37 1 17034125 17034126 + RNA INS - - AGCT TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 1 17034125 17034126 - AGCT INS ESPNP ENST00000492551 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors ESPNP HGNC ENSG00000268869 tier1 9 0 0.00 6 4 40.00 FAM193A 0 genome.wustl.edu 37 4 2696852 2696852 + Missense_Mutation SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 4 2696852 2696852 G A SNP FAM193A ENST00000324666 human ensembl 74_37 +1 known missense c.2399 p.G800D 1.000 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 tier1 - - 16 0 0.00 25 12 32.43 FAP 0 genome.wustl.edu 37 2 163057099 163057099 + Silent SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 2 163057099 163057099 G A SNP FAP ENST00000188790 human ensembl 74_37 -1 known silent c.1254 p.Y418 0.986 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors FAP HGNC ENSG00000078098 tier1 - - 45 0 0.00 39 19 32.76 FGD1 0 genome.wustl.edu 37 X 54475348 54475348 + Frame_Shift_Del DEL T T - TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d X 54475348 54475348 T - DEL FGD1 ENST00000375135 human ensembl 74_37 -1 known frame_shift_del c.2327 p.N776fs 1.000 pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD1 HGNC ENSG00000102302 tier1 8 0 0.00 4 2 33.33 FGF9 0 genome.wustl.edu 37 13 22275367 22275367 + Missense_Mutation SNP C C A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 13 22275367 22275367 C A SNP FGF9 ENST00000382353 human ensembl 74_37 +1 known missense c.420 p.F140L 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF9 HGNC ENSG00000102678 tier1 - - 55 0 0.00 28 9 24.32 FN1 0 genome.wustl.edu 37 2 216259306 216259306 + Silent SNP A A C TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 2 216259306 216259306 A C SNP FN1 ENST00000354785 human ensembl 74_37 -1 known silent c.3741 p.V1247 0.951 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 tier1 - - 131 0 0.00 115 45 28.12 FOXN4 0 genome.wustl.edu 37 12 109719351 109719351 + Silent SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 12 109719351 109719351 G A SNP FOXN4 ENST00000299162 human ensembl 74_37 -1 known silent c.1155 p.H385 0.279 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN4 HGNC ENSG00000139445 tier1 - - 25 0 0.00 9 4 30.77 GDA 0 genome.wustl.edu 37 9 74860096 74860096 + Missense_Mutation SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 9 74860096 74860096 G A SNP GDA ENST00000238018 human ensembl 74_37 +1 known missense c.1168 p.E390K 1.000 pfam_Amidohydro_1,tigrfam_Guanine_deaminase pfam_Amidohydro_1,tigrfam_Guanine_deaminase - no_errors GDA HGNC ENSG00000119125 tier1 - - 110 0 0.00 190 40 17.39 GLRA4 0 genome.wustl.edu 37 X 102979872 102979872 + Missense_Mutation SNP C C T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d X 102979872 102979872 C T SNP GLRA4 ENST00000372617 human ensembl 74_37 -1 known missense c.156 p.M52I 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Glycine_rcpt_A,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA4 HGNC ENSG00000188828 tier1 - - 10 0 0.00 20 15 42.86 GSE1 0 genome.wustl.edu 37 16 85694785 85694785 + Frame_Shift_Del DEL T T - TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 16 85694785 85694785 T - DEL GSE1 ENST00000253458 human ensembl 74_37 +1 known frame_shift_del c.1674 p.D559fs 0.016 NULL pfam_GSE-like - no_errors GSE1 HGNC ENSG00000131149 tier1 77 0 0.00 54 17 23.94 HIST1H2AD 0 genome.wustl.edu 37 6 26199142 26199142 + Silent SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 6 26199142 26199142 G A SNP HIST1H2AD ENST00000341023 human ensembl 74_37 -1 known silent c.330 p.P110 1.000 superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AD HGNC ENSG00000196866 tier1 - - 101 0 0.00 63 29 31.18 HIST1H3I 0 genome.wustl.edu 37 6 27840015 27840015 + Missense_Mutation SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 6 27840015 27840015 G A SNP HIST1H3I ENST00000328488 human ensembl 74_37 -1 known missense c.79 p.R27C 1.000 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3I HGNC ENSG00000182572 tier1 - - 66 0 0.00 34 16 32.00 HRNR 0 genome.wustl.edu 37 1 152191362 152191362 + Missense_Mutation SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 1 152191362 152191362 G A SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.2743 p.R915W 0.079 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 - - 243 0 0.00 500 241 32.48 HSD11B1 0 genome.wustl.edu 37 1 209880331 209880331 + Silent SNP T T G TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 1 209880331 209880331 T G SNP HSD11B1 ENST00000261465 human ensembl 74_37 +1 known silent c.375 p.S125 0.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors HSD11B1 HGNC ENSG00000117594 tier1 - - 129 0 0.00 127 37 22.56 IFI35 0 genome.wustl.edu 37 17 41166235 41166235 + Silent SNP C C T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 17 41166235 41166235 C T SNP IFI35 ENST00000438323 human ensembl 74_37 +1 known silent c.786 p.R262 0.001 pfam_Nmi/IFP35_dom pfam_Nmi/IFP35_dom,pfam_Nmi/IFP35_N - no_errors IFI35 HGNC ENSG00000068079 tier1 - - 66 0 0.00 33 16 32.65 INPP4B 0 genome.wustl.edu 37 4 143067014 143067014 + Missense_Mutation SNP C C A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 4 143067014 143067014 C A SNP INPP4B ENST00000509777 human ensembl 74_37 -1 known missense c.1699 p.A567S 0.000 NULL superfamily_C2_dom - no_errors INPP4B HGNC ENSG00000109452 tier1 - - 113 0 0.00 80 40 33.33 JRK 0 genome.wustl.edu 37 8 143747316 143747316 + RNA SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 8 143747316 143747316 G A SNP JRK ENST00000422119 human ensembl 74_37 -1 known rna NULL NULL 0.985 - - - no_errors JRK HGNC ENSG00000234616 tier1 - - 28 0 0.00 27 6 18.18 KBTBD4 0 genome.wustl.edu 37 11 47594803 47594804 + Frame_Shift_Del DEL CA CA - TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 11 47594803 47594804 CA - DEL KBTBD4 ENST00000430070 human ensembl 74_37 -1 known frame_shift_del c.1284_1283 p.V428fs 1.000:1.000 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors KBTBD4 HGNC ENSG00000123444 tier1 102 0 0.00 105 27 20.45 KCNJ12 0 genome.wustl.edu 37 17 21319561 21319561 + Missense_Mutation SNP G G T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 17 21319561 21319561 G T SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known missense c.907 p.V303L 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 tier1 - - 104 0 0.00 64 13 16.88 KCNK9 0 genome.wustl.edu 37 8 140630758 140630758 + Missense_Mutation SNP C C T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 8 140630758 140630758 C T SNP KCNK9 ENST00000303015 human ensembl 74_37 -1 known missense c.868 p.V290I 0.008 pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK9,prints_2pore_dom_K_chnl - no_errors KCNK9 HGNC ENSG00000169427 tier1 - - 84 0 0.00 31 54 63.53 KIAA0556 0 genome.wustl.edu 37 16 27751481 27751481 + Missense_Mutation SNP G G C TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 16 27751481 27751481 G C SNP KIAA0556 ENST00000261588 human ensembl 74_37 +1 known missense c.1863 p.Q621H 0.014 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 tier1 - - 78 0 0.00 41 19 31.15 KIAA0947 0 genome.wustl.edu 37 5 5461657 5461657 + Missense_Mutation SNP C C T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 5 5461657 5461657 C T SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known missense c.2210 p.S737L 0.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 tier1 - - 23 0 0.00 8 6 42.86 KIAA0947 0 genome.wustl.edu 37 5 5486906 5486906 + Frame_Shift_Del DEL T T - TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 5 5486906 5486906 T - DEL KIAA0947 ENST00000296564 human ensembl 74_37 +1 known frame_shift_del c.6593 p.M2198fs 0.980 superfamily_Vitellinogen_superhlx superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 tier1 11 0 0.00 10 4 28.57 KIF18B 0 genome.wustl.edu 37 17 43012631 43012631 + Missense_Mutation SNP T T C TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 17 43012631 43012631 T C SNP KIF18B ENST00000339151 human ensembl 74_37 -1 known missense c.467 p.Q156R 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18B HGNC ENSG00000186185 tier1 - - 13 0 0.00 5 7 58.33 KIFC1 0 genome.wustl.edu 37 6 33374041 33374041 + Silent SNP A A T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 6 33374041 33374041 A T SNP KIFC1 ENST00000428849 human ensembl 74_37 +1 known silent c.1605 p.S535 0.889 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC1 HGNC ENSG00000237649 tier1 - - 153 0 0.00 87 43 33.08 KLF12 0 genome.wustl.edu 37 13 74420436 74420436 + Silent SNP C C T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 13 74420436 74420436 C T SNP KLF12 ENST00000377666 human ensembl 74_37 -1 known silent c.198 p.P66 0.981 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF12 HGNC ENSG00000118922 tier1 - - 150 0 0.00 89 46 34.07 KLK12 0 genome.wustl.edu 37 19 51535214 51535214 + Silent SNP T T C TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 19 51535214 51535214 T C SNP KLK12 ENST00000250351 human ensembl 74_37 -1 known silent c.375 p.Q125 0.959 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 KLK12 HGNC ENSG00000186474 tier1 - - 57 0 0.00 35 10 22.22 KRTAP1-3 0 genome.wustl.edu 37 17 39190779 39190779 + Missense_Mutation SNP T T C TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 17 39190779 39190779 T C SNP KRTAP1-3 ENST00000344363 human ensembl 74_37 -1 known missense c.295 p.S99G 0.001 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP1-3 HGNC ENSG00000221880 25 0 0.00 109 6 5.22 LAMA5 0 genome.wustl.edu 37 20 60887316 60887316 + Silent SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 20 60887316 60887316 G A SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known silent c.9417 p.N3139 0.005 superfamily_ConA-like_lec_gl_sf,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 - - 8 0 0.00 7 6 46.15 LAMC2 0 genome.wustl.edu 37 1 183201898 183201898 + Missense_Mutation SNP G G T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 1 183201898 183201898 G T SNP LAMC2 ENST00000264144 human ensembl 74_37 +1 known missense c.2126 p.G709V 0.991 NULL pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin - no_errors LAMC2 HGNC ENSG00000058085 tier1 - - 88 0 0.00 97 30 23.62 LCNL1 0 genome.wustl.edu 37 9 139878086 139878086 + Silent SNP C C T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 9 139878086 139878086 C T SNP LCNL1 ENST00000408973 human ensembl 74_37 +1 known silent c.48 p.D16 0.697 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like - no_errors LCNL1 HGNC ENSG00000214402 tier1 - - 42 0 0.00 63 33 34.38 LCP1 0 genome.wustl.edu 37 13 46730691 46730691 + Missense_Mutation SNP C C T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 13 46730691 46730691 C T SNP LCP1 ENST00000323076 human ensembl 74_37 -1 known missense c.373 p.A125T 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_EF_hand_dom,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors LCP1 HGNC ENSG00000136167 tier1 - - 138 0 0.00 183 43 19.03 LPPR1 0 genome.wustl.edu 37 9 104086316 104086316 + Missense_Mutation SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 9 104086316 104086316 G A SNP LPPR1 ENST00000374874 human ensembl 74_37 +1 known missense c.955 p.A319T 0.997 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR1 Uniprot_gn ENSG00000148123 tier1 - - 125 0 0.00 72 40 35.71 LRP4 0 genome.wustl.edu 37 11 46910982 46910982 + Missense_Mutation SNP C C A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 11 46910982 46910982 C A SNP LRP4 ENST00000378623 human ensembl 74_37 -1 known missense c.2195 p.S732I 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP4 HGNC ENSG00000134569 tier1 - - 85 0 0.00 135 44 24.58 MAD1L1 0 genome.wustl.edu 37 7 2259063 2259063 + Missense_Mutation SNP G G C TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 7 2259063 2259063 G C SNP MAD1L1 ENST00000265854 human ensembl 74_37 -1 known missense c.500 p.S167W 0.797 pfam_Mad1 pfam_Mad1 - no_errors MAD1L1 HGNC ENSG00000002822 tier1 - - 20 0 0.00 34 16 32.00 MAST1 0 genome.wustl.edu 37 19 12978709 12978709 + Frame_Shift_Del DEL C C - TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 19 12978709 12978709 C - DEL MAST1 ENST00000251472 human ensembl 74_37 +1 known frame_shift_del c.2484 p.A830fs 0.069 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST1 HGNC ENSG00000105613 tier1 27 0 0.00 28 11 28.21 MED12L 0 genome.wustl.edu 37 3 151129235 151129235 + Missense_Mutation SNP C C T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 3 151129235 151129235 C T SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.5975 p.P1992L 0.997 pfam_Mediator_Med12_catenin-bd pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 tier1 - - 63 0 0.00 40 13 24.53 MLLT6 0 genome.wustl.edu 37 17 36876054 36876054 + Silent SNP C C T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 17 36876054 36876054 C T SNP MLLT6 ENST00000325718 human ensembl 74_37 +1 known silent c.2061 p.P687 0.998 NULL superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT6 HGNC ENSG00000108292 tier1 - - 19 0 0.00 7 8 53.33 MME 0 genome.wustl.edu 37 3 154861335 154861335 + Missense_Mutation SNP C C T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 3 154861335 154861335 C T SNP MME ENST00000360490 human ensembl 74_37 +1 known missense c.1292 p.A431V 0.999 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MME HGNC ENSG00000196549 tier1 - - 111 0 0.00 67 38 36.19 MUC16 0 genome.wustl.edu 37 19 9071643 9071643 + Missense_Mutation SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 19 9071643 9071643 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.15803 p.T5268M 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 81 0 0.00 47 30 38.46 MYB 0 genome.wustl.edu 37 6 135521253 135521253 + Silent SNP C C T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 6 135521253 135521253 C T SNP MYB ENST00000341911 human ensembl 74_37 +1 known silent c.1740 p.I580 1.000 pfam_C-myb_C pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYB HGNC ENSG00000118513 tier1 - - 87 0 0.00 112 24 17.65 MYH8 0 genome.wustl.edu 37 17 10323527 10323527 + Silent SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 17 10323527 10323527 G A SNP MYH8 ENST00000403437 human ensembl 74_37 -1 known silent c.18 p.D6 0.969 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 tier1 - - 78 0 0.00 51 27 34.62 MYO19 0 genome.wustl.edu 37 17 34856764 34856764 + Silent SNP C C T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 17 34856764 34856764 C T SNP MYO19 ENST00000431794 human ensembl 74_37 -1 known silent c.2283 p.L761 1.000 superfamily_P-loop_NTPase pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO19 HGNC ENSG00000141140 tier1 - - 16 0 0.00 11 4 26.67 MYO1C 0 genome.wustl.edu 37 17 1383904 1383904 + Missense_Mutation SNP C C G TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 17 1383904 1383904 C G SNP MYO1C ENST00000359786 human ensembl 74_37 -1 known missense c.823 p.V275L 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1C HGNC ENSG00000197879 tier1 - - 105 0 0.00 100 72 41.86 N4BP2 0 genome.wustl.edu 37 4 40113764 40113764 + Missense_Mutation SNP C C T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 4 40113764 40113764 C T SNP N4BP2 ENST00000261435 human ensembl 74_37 +1 known missense c.1559 p.A520V 1.000 superfamily_P-loop_NTPase pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C - no_errors N4BP2 HGNC ENSG00000078177 tier1 - - 195 0 0.00 150 76 33.63 NLRP6 0 genome.wustl.edu 37 11 284631 284631 + Silent SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 11 284631 284631 G A SNP NLRP6 ENST00000312165 human ensembl 74_37 +1 known silent c.2529 p.L843 0.998 NULL 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 NLRP6 HGNC ENSG00000174885 tier1 - - 26 0 0.00 13 8 38.10 NPAS4 0 genome.wustl.edu 37 11 66189643 66189643 + Missense_Mutation SNP C C A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 11 66189643 66189643 C A SNP NPAS4 ENST00000311034 human ensembl 74_37 +1 known missense c.228 p.D76E 1.000 smart_PAS,pfscan_PAS pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 tier1 - - 47 0 0.00 25 16 39.02 NR2F1 0 genome.wustl.edu 37 5 92929595 92929595 + RNA SNP A A T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 5 92929595 92929595 A T SNP NR2F1 ENST00000506162 human ensembl 74_37 +1 putative rna NULL NULL 0.872 - - - no_errors NR2F1 HGNC ENSG00000175745 tier1 - - 28 0 0.00 19 13 40.62 NRG3 0 genome.wustl.edu 37 10 84498333 84498333 + Silent SNP G G T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 10 84498333 84498333 G T SNP NRG3 ENST00000404547 human ensembl 74_37 +1 known silent c.954 p.R318 1.000 pfscan_EG-like_dom pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 tier1 - - 84 0 0.00 61 15 19.74 NUP98 0 genome.wustl.edu 37 11 3714565 3714565 + Missense_Mutation SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 11 3714565 3714565 G A SNP NUP98 ENST00000324932 human ensembl 74_37 -1 known missense c.4208 p.S1403F 1.000 pfam_Nup96 pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC ENSG00000110713 tier1 - - 152 0 0.00 85 56 39.72 NUSAP1 0 genome.wustl.edu 37 15 41663884 41663885 + Splice_Site INS - - A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 15 41663884 41663885 - A INS NUSAP1 ENST00000559596 human ensembl 74_37 +1 known splice_site_ins c.1006+2_1006+1 e8+2 0.991:0.187 - - - no_errors NUSAP1 HGNC ENSG00000137804 tier1 26 0 0.00 18 3 14.29 OR2V2 0 genome.wustl.edu 37 5 180582044 180582044 + Silent SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 5 180582044 180582044 G A SNP OR2V2 ENST00000328275 human ensembl 74_37 +1 known silent c.102 p.A34 0.001 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2V2 HGNC ENSG00000182613 tier1 rs201192992 - 135 0 0.00 86 45 34.35 OR4C15 0 genome.wustl.edu 37 11 55322124 55322124 + Missense_Mutation SNP C C A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 11 55322124 55322124 C A SNP OR4C15 ENST00000314644 human ensembl 74_37 +1 known missense c.342 p.F114L 0.976 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 tier1 - - 137 0 0.00 96 46 32.39 OR4N4 0 genome.wustl.edu 37 15 22383152 22383152 + Frame_Shift_Del DEL G G - TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 15 22383152 22383152 G - DEL OR4N4 ENST00000328795 human ensembl 74_37 +1 known frame_shift_del c.680 p.A228fs 0.084 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N4 HGNC ENSG00000183706 tier1 34 0 0.00 10 2 16.67 PAQR9 0 genome.wustl.edu 37 3 142681550 142681550 + Missense_Mutation SNP C C G TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 3 142681550 142681550 C G SNP PAQR9 ENST00000340634 human ensembl 74_37 -1 known missense c.629 p.R210P 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR9 HGNC ENSG00000188582 tier1 - - 21 0 0.00 9 11 55.00 PCDHA8 0 genome.wustl.edu 37 5 140222188 140222188 + Missense_Mutation SNP C C T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 5 140222188 140222188 C T SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known missense c.1282 p.R428W 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 tier1 - - 172 0 0.00 101 56 35.67 PCF11 0 genome.wustl.edu 37 11 82880628 82880628 + Missense_Mutation SNP A A T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 11 82880628 82880628 A T SNP PCF11 ENST00000298281 human ensembl 74_37 +1 known missense c.3251 p.Q1084L 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors PCF11 HGNC ENSG00000165494 tier1 - - 54 0 0.00 40 18 31.03 PCLO 0 genome.wustl.edu 37 7 82474644 82474644 + Silent SNP G G T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 7 82474644 82474644 G T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.13989 p.P4663 0.504 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 25 0 0.00 23 5 17.86 PDE10A 0 genome.wustl.edu 37 6 165844962 165844963 + Splice_Site INS - - A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 6 165844962 165844963 - A INS PDE10A ENST00000539869 human ensembl 74_37 -1 known splice_site_ins c.694-3_694-2 e8-2 0.032:0.014 - - - no_errors PDE10A HGNC ENSG00000112541 tier1 69 0 0.00 64 25 28.09 PDZD2 0 genome.wustl.edu 37 5 32088080 32088080 + Missense_Mutation SNP C C A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 5 32088080 32088080 C A SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.4526 p.P1509H 0.966 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 tier1 - - 56 0 0.00 34 11 24.44 PLCE1 0 genome.wustl.edu 37 10 96022448 96022448 + Missense_Mutation SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 10 96022448 96022448 G A SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known missense c.4012 p.G1338R 1.000 pfam_PLipase_C_EF-hand-like 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 - - 151 0 0.00 109 66 37.71 PLEKHA1 0 genome.wustl.edu 37 10 124183744 124183744 + Silent SNP T T A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 10 124183744 124183744 T A SNP PLEKHA1 ENST00000368990 human ensembl 74_37 +1 known silent c.711 p.L237 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA1 HGNC ENSG00000107679 tier1 - - 45 0 0.00 90 24 21.05 PLK2 0 genome.wustl.edu 37 5 57752351 57752351 + Missense_Mutation SNP T T G TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 5 57752351 57752351 T G SNP PLK2 ENST00000274289 human ensembl 74_37 -1 known missense c.1222 p.T408P 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK2 HGNC ENSG00000145632 tier1 - - 128 0 0.00 122 23 15.86 PLTP 0 genome.wustl.edu 37 20 44530924 44530924 + Missense_Mutation SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 20 44530924 44530924 G A SNP PLTP ENST00000542937 human ensembl 74_37 -1 known missense c.1217 p.T406M 0.001 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors PLTP HGNC ENSG00000100979 tier1 - - 28 0 0.00 51 28 35.44 PRKAA2 0 genome.wustl.edu 37 1 57169943 57169943 + Missense_Mutation SNP T T C TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 1 57169943 57169943 T C SNP PRKAA2 ENST00000371244 human ensembl 74_37 +1 known missense c.1088 p.L363P 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRKAA2 HGNC ENSG00000162409 tier1 - - 66 0 0.00 42 19 31.15 PRSS54 0 genome.wustl.edu 37 16 58318384 58318384 + RNA SNP A A T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 16 58318384 58318384 A T SNP PRSS54 ENST00000563336 human ensembl 74_37 -1 putative rna NULL NULL 0.001 - - - no_errors PRSS54 HGNC ENSG00000103023 tier1 - - 31 0 0.00 49 12 19.67 PRSS57 0 genome.wustl.edu 37 19 691994 691994 + Missense_Mutation SNP C C T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 19 691994 691994 C T SNP PRSS57 ENST00000329267 human ensembl 74_37 -1 known missense c.245 p.R82H 0.000 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 PRSS57 HGNC ENSG00000185198 tier1 - - 16 0 0.00 33 11 25.00 PRUNE2 0 genome.wustl.edu 37 9 79325181 79325181 + Missense_Mutation SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 9 79325181 79325181 G A SNP PRUNE2 ENST00000428286 human ensembl 74_37 -1 known missense c.932 p.A311V 0.983 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 tier1 - - 69 0 0.00 45 21 31.82 PRX 0 genome.wustl.edu 37 19 40902918 40902918 + Silent SNP A A T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 19 40902918 40902918 A T SNP PRX ENST00000324001 human ensembl 74_37 -1 known silent c.1341 p.A447 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 tier1 - - 87 0 0.00 68 28 29.17 RANBP17 0 genome.wustl.edu 37 5 170395282 170395282 + Missense_Mutation SNP G G C TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 5 170395282 170395282 G C SNP RANBP17 ENST00000523189 human ensembl 74_37 +1 known missense c.1611 p.L537F 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors RANBP17 HGNC ENSG00000204764 tier1 - - 140 0 0.00 215 40 15.69 RAP1GDS1 0 genome.wustl.edu 37 4 99355195 99355195 + Missense_Mutation SNP A A G TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 4 99355195 99355195 A G SNP RAP1GDS1 ENST00000339360 human ensembl 74_37 +1 known missense c.1552 p.I518V 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors RAP1GDS1 HGNC ENSG00000138698 tier1 - - 59 0 0.00 53 36 40.45 RELL1 0 genome.wustl.edu 37 4 37636637 37636637 + Silent SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 4 37636637 37636637 G A SNP RELL1 ENST00000314117 human ensembl 74_37 -1 known silent c.552 p.G184 0.268 NULL pfam_TNF_rcpt_RELT - no_errors RELL1 HGNC ENSG00000181826 tier1 - - 35 0 0.00 41 17 29.31 RFPL3 0 genome.wustl.edu 37 22 32756332 32756332 + Missense_Mutation SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 22 32756332 32756332 G A SNP RFPL3 ENST00000249007 human ensembl 74_37 +1 known missense c.467 p.R156Q 0.091 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL3 HGNC ENSG00000128276 tier1 - - 85 0 0.00 58 27 31.76 RIMS2 0 genome.wustl.edu 37 8 104922393 104922393 + Silent SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 8 104922393 104922393 G A SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known silent c.1656 p.T552 1.000 superfamily_PDZ pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 82 0 0.00 68 27 28.42 RPGRIP1 0 genome.wustl.edu 37 14 21796656 21796656 + Missense_Mutation SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 14 21796656 21796656 G A SNP RPGRIP1 ENST00000206660 human ensembl 74_37 +1 known missense c.2969 p.G990E 0.173 NULL pfam_DUF3250,superfamily_C2_dom - no_errors RPGRIP1 HGNC ENSG00000092200 tier1 - - 77 0 0.00 31 20 39.22 RPSAP58 0 genome.wustl.edu 37 19 24010116 24010116 + Silent SNP C C G TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 19 24010116 24010116 C G SNP RPSAP58 ENST00000354585 human ensembl 74_37 +1 known silent c.153 p.L51 1.000 pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2,tigrfam_Ribosomal_S2_euk/arc pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2,tigrfam_Ribosomal_S2_euk/arc - no_errors RPSAP58 HGNC ENSG00000205246 34 0 0.00 33 2 5.71 SARS2 0 genome.wustl.edu 37 19 39408368 39408368 + Missense_Mutation SNP A A C TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 19 39408368 39408368 A C SNP SARS2 ENST00000600042 human ensembl 74_37 -1 known missense c.1162 p.F388V 1.000 pirsf_Ser-tRNA-ligase_type_1,pfam_aa-tRNA-synt_IIb_cons-dom,prints_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1 pirsf_Ser-tRNA-ligase_type_1,pfam_aa-tRNA-synt_IIb_cons-dom,superfamily_tRNA-bd_arm,prints_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1 - no_errors SARS2 HGNC ENSG00000104835 tier1 - - 33 0 0.00 67 6 8.22 SCLY 0 genome.wustl.edu 37 2 238977996 238977996 + Missense_Mutation SNP A A C TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 2 238977996 238977996 A C SNP SCLY ENST00000254663 human ensembl 74_37 +1 known missense c.386 p.K129T 0.000 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Cysteine_dSase_NifS pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Cysteine_dSase_NifS - no_errors SCLY HGNC ENSG00000132330 tier1 - - 40 0 0.00 33 10 23.26 SDK1 0 genome.wustl.edu 37 7 3991478 3991478 + Missense_Mutation SNP C C T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 7 3991478 3991478 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.1076 p.P359L 0.022 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 tier1 - - 66 0 0.00 32 15 31.91 SETD8 0 genome.wustl.edu 37 12 123880936 123880936 + Missense_Mutation SNP A A C TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 12 123880936 123880936 A C SNP SETD8 ENST00000330479 human ensembl 74_37 +1 known missense c.554 p.Y185S 1.000 pirsf_Hist_H4-K20_MeTrfase pfam_SET_dom,smart_SET_dom,pirsf_Hist_H4-K20_MeTrfase,pfscan_SET_dom - no_errors SETD8 HGNC ENSG00000183955 tier1 - - 84 0 0.00 51 24 32.00 SETDB1 0 genome.wustl.edu 37 1 150933457 150933457 + Silent SNP C C T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 1 150933457 150933457 C T SNP SETDB1 ENST00000271640 human ensembl 74_37 +1 known silent c.2919 p.S973 0.881 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 tier1 - - 135 0 0.00 80 220 73.33 SGIP1 0 genome.wustl.edu 37 1 67155939 67155939 + Missense_Mutation SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 1 67155939 67155939 G A SNP SGIP1 ENST00000237247 human ensembl 74_37 +1 known missense c.1603 p.E535K 1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 tier1 - - 137 0 0.00 92 48 34.04 SLC17A4 0 genome.wustl.edu 37 6 25770487 25770487 + Missense_Mutation SNP G G C TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 6 25770487 25770487 G C SNP SLC17A4 ENST00000377905 human ensembl 74_37 +1 known missense c.490 p.A164P 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A4 HGNC ENSG00000146039 tier1 - - 90 0 0.00 78 40 33.90 SLC45A3 0 genome.wustl.edu 37 1 205628640 205628640 + Missense_Mutation SNP C C T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 1 205628640 205628640 C T SNP SLC45A3 ENST00000367145 human ensembl 74_37 -1 known missense c.1384 p.G462R 0.990 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A3 HGNC ENSG00000158715 tier1 - - 21 0 0.00 19 18 47.37 SLITRK1 0 genome.wustl.edu 37 13 84455412 84455412 + Missense_Mutation SNP C C A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 13 84455412 84455412 C A SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.231 p.E77D 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 tier1 - - 76 0 0.00 46 24 34.29 SMTN 0 genome.wustl.edu 37 22 31495748 31495748 + Missense_Mutation SNP C C A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 22 31495748 31495748 C A SNP SMTN ENST00000347557 human ensembl 74_37 +1 known missense c.2469 p.N823K 1.000 pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 tier1 - - 49 0 0.00 36 12 25.00 SNORD114-14 0 genome.wustl.edu 37 14 101438503 101438503 + RNA SNP T T G TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 14 101438503 101438503 T G SNP SNORD114-14 ENST00000362723 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNORD114-14 HGNC ENSG00000199593 tier1 - - 36 0 0.00 11 9 45.00 SPAG17 0 genome.wustl.edu 37 1 118565996 118565996 + Missense_Mutation SNP C C A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 1 118565996 118565996 C A SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known missense c.4000 p.D1334Y 0.159 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 tier1 - - 76 0 0.00 46 18 28.12 SPDL1 0 genome.wustl.edu 37 5 169018219 169018219 + Frame_Shift_Del DEL A A - TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 5 169018219 169018219 A - DEL SPDL1 ENST00000265295 human ensembl 74_37 +1 known frame_shift_del c.327 p.T111fs 0.103 NULL NULL - no_errors SPDL1 HGNC ENSG00000040275 tier1 57 0 0.00 35 14 28.57 SPHKAP 0 genome.wustl.edu 37 2 228881314 228881314 + Missense_Mutation SNP C C T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 2 228881314 228881314 C T SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known missense c.4256 p.R1419Q 0.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 tier1 - - 108 0 0.00 105 10 8.70 SRRM2 0 genome.wustl.edu 37 16 2817083 2817084 + Frame_Shift_Del DEL TG TG - TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 16 2817083 2817084 TG - DEL SRRM2 ENST00000301740 human ensembl 74_37 +1 known frame_shift_del c.6554_6555 p.L2185fs 1.000:1.000 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 tier1 41 0 0.00 29 13 30.95 SRSF1 0 genome.wustl.edu 37 17 56082801 56082802 + Frame_Shift_Ins INS - - A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 17 56082801 56082802 - A INS SRSF1 ENST00000258962 human ensembl 74_37 -1 known frame_shift_ins c.713_712 p.S238fs 1.000:1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF1 HGNC ENSG00000136450 tier1 130 0 0.00 81 48 37.21 SUSD5 0 genome.wustl.edu 37 3 33216546 33216546 + Missense_Mutation SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 3 33216546 33216546 G A SNP SUSD5 ENST00000309558 human ensembl 74_37 -1 known missense c.430 p.P144S 1.000 pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Link,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Link,pfscan_Link,pfscan_Sushi_SCR_CCP - no_errors SUSD5 HGNC ENSG00000173705 tier1 - - 51 0 0.00 29 8 21.62 SV2B 0 genome.wustl.edu 37 15 91769893 91769893 + Missense_Mutation SNP C C T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 15 91769893 91769893 C T SNP SV2B ENST00000330276 human ensembl 74_37 +1 known missense c.400 p.P134S 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2B HGNC ENSG00000185518 tier1 - - 40 0 0.00 28 21 42.86 SYCP1 0 genome.wustl.edu 37 1 115418718 115418718 + Missense_Mutation SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 1 115418718 115418718 G A SNP SYCP1 ENST00000369518 human ensembl 74_37 +1 known missense c.686 p.R229H 1.000 pfam_SCP-1 pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 tier1 - - 63 0 0.00 46 27 36.99 TCHH 0 genome.wustl.edu 37 1 152080181 152080181 + Missense_Mutation SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 1 152080181 152080181 G A SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.5512 p.R1838W 0.006 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 tier1 - - 60 0 0.00 158 19 10.73 TGIF2LY 0 genome.wustl.edu 37 Y 3447604 3447604 + Missense_Mutation SNP C C T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d Y 3447604 3447604 C T SNP TGIF2LY ENST00000321217 human ensembl 74_37 +1 known missense c.319 p.R107C 0.983 pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TGIF2LY HGNC ENSG00000176679 tier1 - - 58 0 0.00 17 44 72.13 THAP2 0 genome.wustl.edu 37 12 72070862 72070862 + Nonsense_Mutation SNP A A T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 12 72070862 72070862 A T SNP THAP2 ENST00000308086 human ensembl 74_37 +1 known nonsense c.661 p.K221* 0.014 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP2 HGNC ENSG00000173451 tier1 - - 61 0 0.00 39 16 29.09 TMEM132A 0 genome.wustl.edu 37 11 60703505 60703505 + Missense_Mutation SNP C C T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 11 60703505 60703505 C T SNP TMEM132A ENST00000005286 human ensembl 74_37 +1 known missense c.2201 p.A734V 0.002 NULL NULL - no_errors TMEM132A HGNC ENSG00000006118 tier1 - - 27 0 0.00 8 10 55.56 TMX1 0 genome.wustl.edu 37 14 51713849 51713849 + Silent SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 14 51713849 51713849 G A SNP TMX1 ENST00000457354 human ensembl 74_37 +1 known silent c.354 p.R118 0.935 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TMX1 HGNC ENSG00000139921 tier1 - - 79 0 0.00 175 24 12.06 TNR 0 genome.wustl.edu 37 1 175332856 175332856 + Nonsense_Mutation SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 1 175332856 175332856 G A SNP TNR ENST00000263525 human ensembl 74_37 -1 known nonsense c.2695 p.R899* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 tier1 - - 103 0 0.00 80 41 33.88 TOMM40 0 genome.wustl.edu 37 19 45397092 45397092 + Missense_Mutation SNP T T C TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 19 45397092 45397092 T C SNP TOMM40 ENST00000252487 human ensembl 74_37 +1 known missense c.491 p.V164A 1.000 pfam_Porin_Euk/Tom40 pfam_Porin_Euk/Tom40 - no_errors TOMM40 HGNC ENSG00000130204 tier1 - - 28 0 0.00 98 18 15.52 TRABD2A 0 genome.wustl.edu 37 2 85051326 85051326 + Missense_Mutation SNP C C T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 2 85051326 85051326 C T SNP TRABD2A ENST00000409520 human ensembl 74_37 -1 known missense c.1085 p.G362E 0.055 NULL NULL - no_errors TRABD2A HGNC ENSG00000186854 tier1 - - 24 0 0.00 16 23 58.97 TRPM4 0 genome.wustl.edu 37 19 49684719 49684719 + Splice_Site SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 19 49684719 49684719 G A SNP TRPM4 ENST00000252826 human ensembl 74_37 +1 known splice_site c.1263+1 e10+1 1.000 - - - no_errors TRPM4 HGNC ENSG00000130529 tier1 - - 21 0 0.00 26 10 27.78 TSC22D1 0 genome.wustl.edu 37 13 45148708 45148708 + Silent SNP C C T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 13 45148708 45148708 C T SNP TSC22D1 ENST00000458659 human ensembl 74_37 -1 known silent c.1503 p.Q501 0.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D1 HGNC ENSG00000102804 tier1 rs146722477 - 102 0 0.00 78 7 8.24 TYROBP 0 genome.wustl.edu 37 19 36398349 36398349 + Silent SNP C C T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 19 36398349 36398349 C T SNP TYROBP ENST00000262629 human ensembl 74_37 -1 known silent c.228 p.E76 0.005 NULL NULL - no_errors TYROBP HGNC ENSG00000011600 tier1 - - 44 0 0.00 45 14 23.73 USH1G 0 genome.wustl.edu 37 17 72916042 72916044 + In_Frame_Del DEL CCT CCT - TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 17 72916042 72916044 CCT - DEL USH1G ENST00000319642 human ensembl 74_37 -1 known in_frame_del c.889_887 p.E296in_frame_del 1.000:1.000:1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors USH1G HGNC ENSG00000182040 tier1 87 0 0.00 65 17 20.73 VWA3A 0 genome.wustl.edu 37 16 22162152 22162152 + Missense_Mutation SNP T T C TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 16 22162152 22162152 T C SNP VWA3A ENST00000389398 human ensembl 74_37 +1 known missense c.3266 p.L1089S 0.968 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3A HGNC ENSG00000175267 tier1 - - 26 0 0.00 15 8 34.78 WDYHV1 0 genome.wustl.edu 37 8 124453657 124453657 + RNA SNP C C G TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 8 124453657 124453657 C G SNP WDYHV1 ENST00000517609 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors WDYHV1 HGNC ENSG00000156795 tier1 - - 31 0 0.00 13 22 62.86 ZFP28 0 genome.wustl.edu 37 19 57065060 57065060 + Silent SNP A A T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 19 57065060 57065060 A T SNP ZFP28 ENST00000301318 human ensembl 74_37 +1 known silent c.906 p.R302 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP28 HGNC ENSG00000196867 tier1 - - 81 0 0.00 90 25 21.74 ZFYVE1 0 genome.wustl.edu 37 14 73491099 73491099 + Silent SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 14 73491099 73491099 G A SNP ZFYVE1 ENST00000553891 human ensembl 74_37 -1 known silent c.118 p.L40 1.000 superfamily_Growth_fac_rcpt_N_dom pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_P-loop_NTPase,superfamily_Growth_fac_rcpt_N_dom,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE1 HGNC ENSG00000165861 tier1 - - 86 0 0.00 67 25 27.17 ZNF286A 0 genome.wustl.edu 37 17 15604684 15604685 + RNA INS - - G TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 17 15604684 15604685 - G INS ZNF286A ENST00000580136 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.001 - - - no_errors ZNF286A Uniprot_gn ENSG00000187607 tier1 10 0 0.00 8 5 38.46 ZNF365 0 genome.wustl.edu 37 10 64136599 64136599 + Missense_Mutation SNP G G T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 10 64136599 64136599 G T SNP ZNF365 ENST00000410046 human ensembl 74_37 +1 known missense c.647 p.R216L 1.000 NULL NULL - no_errors ZNF365 HGNC ENSG00000138311 tier1 - - 107 0 0.00 77 23 23.00 ZNF443 0 genome.wustl.edu 37 19 12541424 12541424 + Missense_Mutation SNP C C G TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 19 12541424 12541424 C G SNP ZNF443 ENST00000301547 human ensembl 74_37 -1 known missense c.1562 p.R521P 0.000 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 ZNF443 HGNC ENSG00000180855 tier1 - - 135 0 0.00 317 23 6.76 ZNF528 0 genome.wustl.edu 37 19 52909945 52909945 + Nonstop_Mutation SNP G G T TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 19 52909945 52909945 G T SNP ZNF528 ENST00000594530 human ensembl 74_37 +1 putative nonstop c.320 p.*107L 0.010 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF528 HGNC ENSG00000167555 tier1 - - 25 0 0.00 19 9 32.14 ZNF598 0 genome.wustl.edu 37 16 2049882 2049883 + In_Frame_Ins INS - - TCC TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 16 2049882 2049883 - TCC INS ZNF598 ENST00000431526 human ensembl 74_37 -1 known in_frame_ins c.1668_1667 p.556in_frame_insE 0.000:0.023 NULL superfamily_PAH,smart_Znf_C2H2-like,pfscan_Znf_RING - no_errors ZNF598 HGNC ENSG00000167962 tier1 8 0 0.00 8 6 42.86 ZSCAN22 0 genome.wustl.edu 37 19 58846271 58846271 + Missense_Mutation SNP G G A TCGA-VQ-A92D-01A-11D-A410-08 TCGA-VQ-A92D-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce600dcb-2e88-4018-a9b6-0841e87f5d71 2f6e01ac-6bb1-48be-901e-7dfb64462d8d 19 58846271 58846271 G A SNP ZSCAN22 ENST00000329665 human ensembl 74_37 +1 known missense c.103 p.G35R 0.006 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN22 HGNC ENSG00000182318 tier1 - - 57 0 0.00 32 35 52.24