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 107651454 107651454 + Missense_Mutation SNP G G A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 9 107651454 107651454 G A SNP ABCA1 ENST00000374736 human ensembl 74_37 -1 known missense c.89 p.A30V 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 45 0 0.00 46 4 8.00 ABTB2 0 genome.wustl.edu 37 11 34186322 34186322 + Silent SNP G G A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 11 34186322 34186322 G A SNP ABTB2 ENST00000435224 human ensembl 74_37 -1 known silent c.1899 p.P633 0.896 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB2 HGNC ENSG00000166016 tier1 - - 38 0 0.00 22 40 64.52 ACSM5 0 genome.wustl.edu 37 16 20439186 20439186 + Missense_Mutation SNP C C A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 16 20439186 20439186 C A SNP ACSM5 ENST00000331849 human ensembl 74_37 +1 known missense c.998 p.T333N 0.999 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM5 HGNC ENSG00000183549 tier1 - - 29 0 0.00 26 8 23.53 ACTN4 0 genome.wustl.edu 37 19 39218932 39218932 + RNA SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 19 39218932 39218932 G T SNP ACTN4 ENST00000477174 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors ACTN4 HGNC ENSG00000130402 tier1 - - 30 0 0.00 32 4 11.11 ADAM30 0 genome.wustl.edu 37 1 120438761 120438761 + Nonsense_Mutation SNP G G A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 1 120438761 120438761 G A SNP ADAM30 ENST00000369400 human ensembl 74_37 -1 known nonsense c.199 p.Q67* 0.058 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM30 HGNC ENSG00000134249 20 0 0.00 25 4 13.79 ALPI 0 genome.wustl.edu 37 2 233322349 233322349 + Silent SNP C C T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 2 233322349 233322349 C T SNP ALPI ENST00000295463 human ensembl 74_37 +1 known silent c.723 p.S241 0.000 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPI HGNC ENSG00000163295 110 0 0.00 49 3 5.77 ALPP 0 genome.wustl.edu 37 2 233244328 233244328 + Missense_Mutation SNP C C A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 2 233244328 233244328 C A SNP ALPP ENST00000392027 human ensembl 74_37 +1 known missense c.415 p.R139S 0.973 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPP HGNC ENSG00000163283 52 0 0.00 38 2 5.00 AMH 0 genome.wustl.edu 37 19 2250424 2250424 + Silent SNP C C T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 19 2250424 2250424 C T SNP AMH ENST00000221496 human ensembl 74_37 +1 known silent c.501 p.Y167 0.988 pfam_AMH_N,pirsf_Muellerian-inhibiting_factor pfam_AMH_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_Muellerian-inhibiting_factor - no_errors AMH HGNC ENSG00000104899 tier1 - - 44 0 0.00 35 17 32.69 AMIGO3 0 genome.wustl.edu 37 3 49755552 49755552 + Silent SNP G G A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 3 49755552 49755552 G A SNP AMIGO3 ENST00000320431 human ensembl 74_37 -1 known silent c.1347 p.S449 0.913 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors AMIGO3 HGNC ENSG00000176020 tier1 - - 55 0 0.00 22 3 12.00 APEX2 0 genome.wustl.edu 37 X 55030234 55030234 + Missense_Mutation SNP A A T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb X 55030234 55030234 A T SNP APEX2 ENST00000374987 human ensembl 74_37 +1 known missense c.572 p.H191L 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_AP_endonuc_1 pfam_Endo/exonuclease/phosphatase,pfam_Znf_GRF,superfamily_Endo/exonuclease/phosphatase,tigrfam_AP_endonuc_1 - no_errors APEX2 HGNC ENSG00000169188 tier1 - - 25 0 0.00 5 15 75.00 APOBEC3F 0 genome.wustl.edu 37 22 39448625 39448625 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 22 39448625 39448625 G T SNP APOBEC3F ENST00000308521 human ensembl 74_37 +1 known missense c.1047 p.E349D 0.000 pfam_APOBEC_C,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3F HGNC ENSG00000128394 tier1 - - 47 0 0.00 51 4 7.27 APPBP2 0 genome.wustl.edu 37 17 58524943 58524943 + Nonstop_Mutation SNP C C A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 17 58524943 58524943 C A SNP APPBP2 ENST00000083182 human ensembl 74_37 -1 known nonstop c.1757 p.*586L 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors APPBP2 HGNC ENSG00000062725 tier1 - - 79 0 0.00 79 8 9.20 ARL6IP6 0 genome.wustl.edu 37 2 153616651 153616651 + RNA SNP C C A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 2 153616651 153616651 C A SNP ARL6IP6 ENST00000495469 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors ARL6IP6 HGNC ENSG00000177917 tier1 - - 73 0 0.00 31 15 32.61 ARPC4 0 genome.wustl.edu 37 3 9845219 9845219 + Splice_Site SNP G G A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 3 9845219 9845219 G A SNP ARPC4 ENST00000440787 human ensembl 74_37 +1 known splice_site c.331-1 e5-1 0.000 - - - no_errors ARPC4 HGNC ENSG00000241553 tier1 - - 51 0 0.00 124 23 15.65 ASH1L 0 genome.wustl.edu 37 1 155319190 155319190 + Missense_Mutation SNP C C A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 1 155319190 155319190 C A SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.7497 p.Q2499H 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 tier1 - - 59 0 0.00 18 33 64.71 ASPN 0 genome.wustl.edu 37 9 95237021 95237021 + Missense_Mutation SNP G G C TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 9 95237021 95237021 G C SNP ASPN ENST00000375544 human ensembl 74_37 -1 known missense c.159 p.D53E 0.936 pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors ASPN HGNC ENSG00000106819 44 0 0.00 37 6 13.95 ATP2B2 0 genome.wustl.edu 37 3 10377897 10377897 + Missense_Mutation SNP C C T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 3 10377897 10377897 C T SNP ATP2B2 ENST00000460129 human ensembl 74_37 -1 known missense c.3373 p.V1125I 1.000 pfam_ATP_Ca_trans_C pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATP_Ca_trans_C,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B2 HGNC ENSG00000157087 tier1 - - 96 0 0.00 159 82 34.02 ATP8A1 0 genome.wustl.edu 37 4 42457409 42457409 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 4 42457409 42457409 G T SNP ATP8A1 ENST00000381668 human ensembl 74_37 -1 known missense c.2722 p.L908I 1.000 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,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 ATP8A1 HGNC ENSG00000124406 35 0 0.00 25 2 7.41 B3GNT1 0 genome.wustl.edu 37 11 66114717 66114717 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 11 66114717 66114717 G T SNP B3GNT1 ENST00000311181 human ensembl 74_37 -1 known missense c.300 p.H100Q 1.000 NULL NULL - no_errors B3GNT1 HGNC ENSG00000174684 71 0 0.00 38 4 9.52 B4GALT7 0 genome.wustl.edu 37 5 177035912 177035912 + Frame_Shift_Del DEL T T - TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 5 177035912 177035912 T - DEL B4GALT7 ENST00000029410 human ensembl 74_37 +1 known frame_shift_del c.725 p.F243fs 1.000 pfam_Galactosyl_T_C pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT7 HGNC ENSG00000027847 tier1 35 0 0.00 29 3 9.38 BAHD1 0 genome.wustl.edu 37 15 40750706 40750706 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 15 40750706 40750706 G T SNP BAHD1 ENST00000416165 human ensembl 74_37 +1 known missense c.43 p.G15C 0.710 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHD1 HGNC ENSG00000140320 tier1 - - 66 0 0.00 42 4 8.70 BCKDHB 0 genome.wustl.edu 37 6 80877472 80877472 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 6 80877472 80877472 G T SNP BCKDHB ENST00000320393 human ensembl 74_37 +1 known missense c.421 p.A141S 1.000 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors BCKDHB HGNC ENSG00000083123 tier1 - - 46 0 0.00 64 4 5.88 BPTF 0 genome.wustl.edu 37 17 65850689 65850689 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 17 65850689 65850689 G T SNP BPTF ENST00000321892 human ensembl 74_37 +1 known missense c.1247 p.C416F 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 37 0 0.00 67 5 6.94 C12orf40 0 genome.wustl.edu 37 12 40077922 40077922 + Splice_Site SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 12 40077922 40077922 G T SNP C12orf40 ENST00000398716 human ensembl 74_37 +1 known splice_site c.1056-1 e7-1 0.002 - - - no_errors C12orf40 HGNC ENSG00000180116 tier1 - - 44 0 0.00 24 9 27.27 C21orf88 0 genome.wustl.edu 37 21 40969497 40969497 + RNA SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 21 40969497 40969497 G T SNP C21orf88 ENST00000489821 human ensembl 74_37 -1 known rna NULL NULL 0.220 - - - no_errors C21orf88 HGNC ENSG00000184809 tier1 - - 20 0 0.00 8 3 27.27 C4orf19 0 genome.wustl.edu 37 4 37591834 37591834 + Frame_Shift_Del DEL A A - TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 4 37591834 37591834 A - DEL C4orf19 ENST00000284437 human ensembl 74_37 +1 known frame_shift_del c.157 p.N54fs 0.000 NULL NULL - no_errors C4orf19 HGNC ENSG00000154274 tier1 50 0 0.00 20 2 9.09 CACNA1H 0 genome.wustl.edu 37 16 1256131 1256131 + Silent SNP C C T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 16 1256131 1256131 C T SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known silent c.2631 p.D877 0.975 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 21 0 0.00 35 3 7.89 CATSPERB 0 genome.wustl.edu 37 14 92074645 92074645 + Missense_Mutation SNP A A T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 14 92074645 92074645 A T SNP CATSPERB ENST00000256343 human ensembl 74_37 -1 known missense c.2702 p.M901K 0.031 NULL superfamily_Sialidases - no_errors CATSPERB HGNC ENSG00000133962 tier1 - - 79 0 0.00 18 19 51.35 CCDC162P 0 genome.wustl.edu 37 6 109630693 109630694 + RNA INS - - T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 6 109630693 109630694 - T INS CCDC162P ENST00000506861 human ensembl 74_37 +1 known rna NULL NULL 0.015:0.086 - - - no_errors CCDC162P HGNC ENSG00000203799 tier1 30 0 0.00 28 3 9.68 CD27 0 genome.wustl.edu 37 12 6559346 6559346 + Silent SNP C C A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 12 6559346 6559346 C A SNP CD27 ENST00000266557 human ensembl 74_37 +1 known silent c.276 p.L92 0.029 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_7,prints_Fas_rcpt - no_errors CD27 HGNC ENSG00000139193 39 0 0.00 25 2 7.41 CDC42EP3 0 genome.wustl.edu 37 2 37873326 37873326 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 2 37873326 37873326 G T SNP CDC42EP3 ENST00000295324 human ensembl 74_37 -1 known missense c.405 p.F135L 0.146 NULL pfam_CRIB_dom,smart_CRIB_dom,pfscan_CRIB_dom - no_errors CDC42EP3 HGNC ENSG00000163171 22 0 0.00 28 2 6.67 CDK10 0 genome.wustl.edu 37 16 89761401 89761401 + Silent SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 16 89761401 89761401 G T SNP CDK10 ENST00000353379 human ensembl 74_37 +1 known silent c.855 p.L285 0.979 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK10 HGNC ENSG00000185324 98 0 0.00 65 4 5.80 CDKL2 0 genome.wustl.edu 37 4 76522219 76522219 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 4 76522219 76522219 G T SNP CDKL2 ENST00000429927 human ensembl 74_37 -1 known missense c.1222 p.P408T 0.019 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDKL2 HGNC ENSG00000138769 54 0 0.00 57 4 6.56 CELP 0 genome.wustl.edu 37 9 135962555 135962556 + RNA INS - - CTGC TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 9 135962555 135962556 - CTGC INS CELP ENST00000411440 human ensembl 74_37 +1 known rna NULL NULL 0.038:0.013 - - - no_errors CELP HGNC ENSG00000170827 tier1 13 0 0.00 8 5 38.46 CELSR2 0 genome.wustl.edu 37 1 109814989 109814989 + Silent SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 1 109814989 109814989 G T SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known silent c.8016 p.S2672 0.335 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 47 0 0.00 37 2 5.13 CNPY1 0 genome.wustl.edu 37 7 155301672 155301672 + Missense_Mutation SNP C C A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 7 155301672 155301672 C A SNP CNPY1 ENST00000321736 human ensembl 74_37 -1 putative missense c.61 p.A21S 0.995 pfam_DUF3456 pfam_DUF3456 - no_errors CNPY1 HGNC ENSG00000146910 40 0 0.00 34 2 5.56 CUX1 0 genome.wustl.edu 37 7 101844825 101844825 + Missense_Mutation SNP C C T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 7 101844825 101844825 C T SNP CUX1 ENST00000360264 human ensembl 74_37 +1 known missense c.2281 p.P761S 0.466 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 tier1 - - 43 0 0.00 36 4 10.00 CYP27B1 0 genome.wustl.edu 37 12 58158631 58158631 + Missense_Mutation SNP C C A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 12 58158631 58158631 C A SNP CYP27B1 ENST00000228606 human ensembl 74_37 -1 known missense c.869 p.G290V 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP27B1 HGNC ENSG00000111012 43 0 0.00 26 2 7.14 DCC 0 genome.wustl.edu 37 18 50918162 50918162 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 18 50918162 50918162 G T SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.2593 p.A865S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 tier1 - - 33 0 0.00 38 4 9.52 DCHS2 0 genome.wustl.edu 37 4 155244405 155244405 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 4 155244405 155244405 G T SNP DCHS2 ENST00000339452 human ensembl 74_37 -1 known missense c.4095 p.N1365K 0.009 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 29 0 0.00 57 4 6.56 DCP1A 0 genome.wustl.edu 37 3 53326271 53326271 + Missense_Mutation SNP T T C TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 3 53326271 53326271 T C SNP DCP1A ENST00000607628 human ensembl 74_37 -1 known missense c.1211 p.H404R 1.000 NULL pfam_DCP1 - no_errors DCP1A HGNC ENSG00000162290 tier1 - - 47 0 0.00 20 28 58.33 DEF8 0 genome.wustl.edu 37 16 90021666 90021666 + Missense_Mutation SNP C C T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 16 90021666 90021666 C T SNP DEF8 ENST00000268676 human ensembl 74_37 +1 known missense c.397 p.R133C 1.000 NULL pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DEF8 HGNC ENSG00000140995 tier1 - - 60 0 0.00 26 17 39.53 DESI2 0 genome.wustl.edu 37 1 244816601 244816601 + RNA SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 1 244816601 244816601 G T SNP DESI2 ENST00000484738 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DESI2 HGNC ENSG00000121644 tier1 - - 13 0 0.00 7 5 41.67 DICER1 0 genome.wustl.edu 37 14 95570306 95570306 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 14 95570306 95570306 G T SNP DICER1 ENST00000343455 human ensembl 74_37 -1 known missense c.3427 p.L1143I 0.976 NULL pfam_RNase_III_dom,pfam_PAZ_dom,pfam_Dicer_dimerisation_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_P-loop_NTPase,superfamily_PAZ_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_PAZ_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 44 0 0.00 32 4 11.11 DOCK11 0 genome.wustl.edu 37 X 117819759 117819759 + Missense_Mutation SNP G G A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb X 117819759 117819759 G A SNP DOCK11 ENST00000276202 human ensembl 74_37 +1 known missense c.6211 p.A2071T 0.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 tier1 - - 35 0 0.00 8 21 72.41 DPP10 0 genome.wustl.edu 37 2 116548752 116548752 + Missense_Mutation SNP T T A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 2 116548752 116548752 T A SNP DPP10 ENST00000393147 human ensembl 74_37 +1 known missense c.1639 p.Y547N 1.000 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 tier1 - - 21 0 0.00 23 6 20.69 ECI2 0 genome.wustl.edu 37 6 4117631 4117631 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 6 4117631 4117631 G T SNP ECI2 ENST00000380118 human ensembl 74_37 -1 known missense c.940 p.Q314K 0.998 pfam_Crotonase_core_superfam pfam_Acyl-CoA-binding_protein,pfam_Crotonase_core_superfam,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors ECI2 HGNC ENSG00000198721 tier1 - - 74 0 0.00 40 4 9.09 ECM2 0 genome.wustl.edu 37 9 95277146 95277148 + In_Frame_Del DEL TCC TCC - TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 9 95277146 95277148 TCC 0 DEL ECM2 ENST00000344604 human ensembl 74_37 -1 known in_frame_del c.821_819 p.E273in_frame_del 0.117:0.088:0.005 NULL pfam_Leu-rich_rpt,pfam_VWF_C,smart_VWF_C,smart_Leu-rich_rpt_typical-subtyp,pfscan_VWF_C - no_errors ECM2 HGNC ENSG00000106823 34 0 0.00 98 6 5.77 ENPP4 0 genome.wustl.edu 37 6 46107802 46107802 + Missense_Mutation SNP A A G TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 6 46107802 46107802 A G SNP ENPP4 ENST00000321037 human ensembl 74_37 +1 known missense c.482 p.E161G 0.030 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ENPP4 HGNC ENSG00000001561 tier1 - - 25 0 0.00 22 5 18.52 ENPP6 0 genome.wustl.edu 37 4 185012359 185012359 + Missense_Mutation SNP C C T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 4 185012359 185012359 C T SNP ENPP6 ENST00000296741 human ensembl 74_37 -1 known missense c.1294 p.A432T 0.462 NULL pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ENPP6 HGNC ENSG00000164303 26 0 0.00 33 3 8.33 ENSG00000188850 0 genome.wustl.edu 37 5 43348816 43348817 + RNA INS - - A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 5 43348816 43348817 - A INS ENSG00000188850 ENST00000511991 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors RP11-159F24.2 Clone_based_vega_gene ENSG00000188850 tier1 10 0 0.00 5 5 50.00 ENSG00000206603 0 genome.wustl.edu 37 7 56123143 56123143 + RNA SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 7 56123143 56123143 G T SNP ENSG00000206603 ENST00000383876 human ensembl 74_37 +1 novel rna NULL NULL 1.000 - - - no_errors SNORA22 RFAM ENSG00000206603 tier1 - - 50 0 0.00 71 4 5.33 ENSG00000243305 0 genome.wustl.edu 37 3 152175739 152175740 + RNA DEL AT AT - TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 3 152175739 152175740 AT - DEL ENSG00000243305 ENST00000463255 human ensembl 74_37 -1 known rna NULL NULL 0.999:0.999 - - - no_errors RP11-362A9.3 Clone_based_vega_gene ENSG00000243305 tier1 13 0 0.00 13 17 56.67 ENSG00000264629 0 genome.wustl.edu 37 22 23077083 23077083 + RNA SNP G G A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 22 23077083 23077083 G A SNP ENSG00000264629 ENST00000579613 human ensembl 74_37 +1 novel rna NULL NULL 0.112 - - - no_errors D87007.1 Clone_based_ensembl_gene ENSG00000264629 tier1 - - 67 0 0.00 66 36 35.29 ENSG00000266535 0 genome.wustl.edu 37 17 31439098 31439099 + RNA DEL AG AG - TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 17 31439098 31439099 AG - DEL ENSG00000266535 ENST00000584688 human ensembl 74_37 +1 known rna NULL NULL 0.563:0.970 - - - no_errors RP11-40A13.1 Clone_based_vega_gene ENSG00000266535 tier1 23 0 0.00 24 4 14.29 ERBB2IP 0 genome.wustl.edu 37 5 65349797 65349797 + Missense_Mutation SNP A A G TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 5 65349797 65349797 A G SNP ERBB2IP ENST00000284037 human ensembl 74_37 +1 known missense c.2651 p.Y884C 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 tier1 - - 45 0 0.00 27 16 37.21 ESPL1 0 genome.wustl.edu 37 12 53663130 53663130 + Missense_Mutation SNP C C A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 12 53663130 53663130 C A SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known missense c.404 p.A135D 0.878 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 tier1 - - 13 0 0.00 9 6 40.00 FAM157B 0 genome.wustl.edu 37 9 141107532 141107533 + RNA INS - - GGG TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 9 141107532 141107533 - GGG INS FAM157B ENST00000446912 human ensembl 74_37 +1 known rna NULL NULL 0.051:0.039 - - - no_errors FAM157B HGNC ENSG00000233013 tier1 72 0 0.00 112 12 9.68 FAM171A1 0 genome.wustl.edu 37 10 15254987 15254989 + In_Frame_Del DEL TCA TCA - TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 TCA TCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 10 15254987 15254989 TCA - DEL FAM171A1 ENST00000378116 human ensembl 74_37 -1 known in_frame_del c.2600_2598 p.D867in_frame_del 1.000:0.998:0.826 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 tier1 31 0 0.00 38 3 7.32 FAM86DP 0 genome.wustl.edu 37 3 75471400 75471400 + RNA SNP C C T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 3 75471400 75471400 C T SNP FAM86DP ENST00000459803 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors FAM86DP HGNC ENSG00000244026 140 0 0.00 70 5 6.67 FAT4 0 genome.wustl.edu 37 4 126370789 126370789 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 4 126370789 126370789 G T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.8618 p.S2873I 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 33 0 0.00 38 2 5.00 FIGF 0 genome.wustl.edu 37 X 15364158 15364159 + RNA INS - - T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb X 15364158 15364159 - T INS FIGF ENST00000488351 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors FIGF HGNC ENSG00000165197 tier1 23 0 0.00 28 3 9.68 FKBP5 0 genome.wustl.edu 37 6 35547893 35547893 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 6 35547893 35547893 G T SNP FKBP5 ENST00000357266 human ensembl 74_37 -1 known missense c.946 p.L316I 1.000 NULL pfam_PPIase_FKBP_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP5 HGNC ENSG00000096060 tier1 - - 64 0 0.00 70 4 5.41 FLJ36000 0 genome.wustl.edu 37 17 21911549 21911549 + RNA SNP G G C TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 17 21911549 21911549 G C SNP FLJ36000 ENST00000581223 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors RP11-744K17.9 Clone_based_vega_gene ENSG00000266795 tier1 - - 32 0 0.00 18 5 21.74 FMN2 0 genome.wustl.edu 37 1 240494009 240494009 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 1 240494009 240494009 G T SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.4544 p.G1515V 0.999 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 99 0 0.00 75 4 5.06 FSTL5 0 genome.wustl.edu 37 4 162697208 162697208 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 4 162697208 162697208 G T SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known missense c.428 p.T143N 0.910 NULL pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 tier1 - - 14 0 0.00 16 12 42.86 FUT6 0 genome.wustl.edu 37 19 5831513 5831513 + Missense_Mutation SNP C C T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 19 5831513 5831513 C T SNP FUT6 ENST00000286955 human ensembl 74_37 -1 known missense c.1066 p.A356T 0.000 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT6 HGNC ENSG00000156413 121 0 0.00 75 4 5.06 GOLGB1 0 genome.wustl.edu 37 3 121383785 121383785 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 3 121383785 121383785 G T SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known missense c.9633 p.N3211K 0.056 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 tier1 - - 48 0 0.00 97 20 16.95 GPLD1 0 genome.wustl.edu 37 6 24448365 24448365 + Nonsense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 6 24448365 24448365 G T SNP GPLD1 ENST00000230036 human ensembl 74_37 -1 known nonsense c.1518 p.C506* 1.000 NULL pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D - no_errors GPLD1 HGNC ENSG00000112293 69 0 0.00 28 2 6.67 GPR21 0 genome.wustl.edu 37 9 125797216 125797216 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 9 125797216 125797216 G T SNP GPR21 ENST00000373642 human ensembl 74_37 +1 known missense c.371 p.S124I 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR21 HGNC ENSG00000188394 25 0 0.00 58 4 6.45 GPR83 0 genome.wustl.edu 37 11 94134267 94134267 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 11 94134267 94134267 G T SNP GPR83 ENST00000243673 human ensembl 74_37 -1 known missense c.147 p.F49L 0.967 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GPR83 HGNC ENSG00000123901 tier1 - - 45 0 0.00 36 4 10.00 GRAP 0 genome.wustl.edu 37 17 18925357 18925357 + Missense_Mutation SNP C C T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 17 18925357 18925357 C T SNP GRAP ENST00000284154 human ensembl 74_37 -1 known missense c.569 p.R190H 0.701 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain,prints_p67phox - no_errors GRAP HGNC ENSG00000154016 tier1 - - 93 0 0.00 24 21 46.67 GSPT1 0 genome.wustl.edu 37 16 11969646 11969646 + Missense_Mutation SNP C C A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 16 11969646 11969646 C A SNP GSPT1 ENST00000434724 human ensembl 74_37 -1 known missense c.1833 p.Q611H 1.000 pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom - no_errors GSPT1 HGNC ENSG00000103342 tier1 - - 84 0 0.00 51 4 7.27 GUCA1B 0 genome.wustl.edu 37 6 42153445 42153445 + Missense_Mutation SNP A A G TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 6 42153445 42153445 A G SNP GUCA1B ENST00000230361 human ensembl 74_37 -1 known missense c.448 p.F150L 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors GUCA1B HGNC ENSG00000112599 tier1 - - 35 0 0.00 24 4 14.29 HID1 0 genome.wustl.edu 37 17 72956020 72956020 + Nonsense_Mutation SNP C C A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 17 72956020 72956020 C A SNP HID1 ENST00000425042 human ensembl 74_37 -1 known nonsense c.964 p.E322* 0.995 NULL pfam_Dymeclin - no_errors HID1 HGNC ENSG00000167861 36 0 0.00 31 4 11.43 HPR 0 genome.wustl.edu 37 16 72107693 72107694 + Frame_Shift_Del DEL GT GT - TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 16 72107693 72107694 GT - DEL HPR ENST00000228226 human ensembl 74_37 +1 known frame_shift_del c.19_20 p.C10fs 0.010:0.011 NULL pirsf_Haptoglobin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors HPR HGNC ENSG00000261701 tier1 20 0 0.00 28 3 9.68 IBTK 0 genome.wustl.edu 37 6 82950160 82950160 + Missense_Mutation SNP A A G TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 6 82950160 82950160 A G SNP IBTK ENST00000306270 human ensembl 74_37 -1 known missense c.44 p.L15P 0.949 NULL pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors IBTK HGNC ENSG00000005700 46 0 0.00 30 2 6.25 IL1R2 0 genome.wustl.edu 37 2 102632364 102632364 + Nonsense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 2 102632364 102632364 G T SNP IL1R2 ENST00000332549 human ensembl 74_37 +1 known nonsense c.364 p.E122* 0.724 smart_Ig_sub,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ,prints_IL-1_rcpt_I/II-typ - no_errors IL1R2 HGNC ENSG00000115590 tier1 - - 49 0 0.00 60 4 6.25 IMPG1 0 genome.wustl.edu 37 6 76660728 76660728 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 6 76660728 76660728 G T SNP IMPG1 ENST00000369950 human ensembl 74_37 -1 known missense c.1375 p.L459M 0.007 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG1 HGNC ENSG00000112706 tier1 - - 53 0 0.00 61 4 6.15 INPP1 0 genome.wustl.edu 37 2 191235631 191235631 + Missense_Mutation SNP C C A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 2 191235631 191235631 C A SNP INPP1 ENST00000322522 human ensembl 74_37 +1 known missense c.703 p.L235I 0.022 pfam_Inositol_monophosphatase pfam_Inositol_monophosphatase - no_errors INPP1 HGNC ENSG00000151689 tier1 - - 63 0 0.00 44 4 8.33 IQGAP1 0 genome.wustl.edu 37 15 90931587 90931587 + Missense_Mutation SNP A A G TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 15 90931587 90931587 A G SNP IQGAP1 ENST00000268182 human ensembl 74_37 +1 known missense c.14 p.D5G 0.997 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 tier1 - - 15 0 0.00 15 7 31.82 ITGA1 0 genome.wustl.edu 37 5 52194096 52194096 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 5 52194096 52194096 G T SNP ITGA1 ENST00000282588 human ensembl 74_37 +1 known missense c.1192 p.A398S 1.000 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA1 HGNC ENSG00000213949 tier1 - - 47 0 0.00 52 4 7.14 ITGB5 0 genome.wustl.edu 37 3 124538659 124538659 + Missense_Mutation SNP A A G TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 3 124538659 124538659 A G SNP ITGB5 ENST00000296181 human ensembl 74_37 -1 known missense c.965 p.L322P 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,smart_VWF_A,prints_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_VWF_A,prints_Integrin_bsu - no_errors ITGB5 HGNC ENSG00000082781 tier1 - - 51 0 0.00 106 24 18.46 KHDC3L 0 genome.wustl.edu 37 6 74072967 74072967 + Missense_Mutation SNP G G A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 6 74072967 74072967 G A SNP KHDC3L ENST00000370367 human ensembl 74_37 +1 known missense c.319 p.A107T 0.061 NULL NULL - no_errors KHDC3L HGNC ENSG00000203908 tier1 - - 44 0 0.00 48 4 7.69 KIF18B 0 genome.wustl.edu 37 17 43013493 43013493 + Silent SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 17 43013493 43013493 G T SNP KIF18B ENST00000339151 human ensembl 74_37 -1 known silent c.220 p.R74 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 79 0 0.00 72 4 5.26 KIF1B 0 genome.wustl.edu 37 1 10333085 10333085 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 1 10333085 10333085 G T SNP KIF1B ENST00000377081 human ensembl 74_37 +1 putative missense c.878 p.S293I 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 tier1 - - 58 0 0.00 42 4 8.70 L3MBTL3 0 genome.wustl.edu 37 6 130415449 130415449 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 6 130415449 130415449 G T SNP L3MBTL3 ENST00000361794 human ensembl 74_37 +1 known missense c.1673 p.C558F 1.000 NULL pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL3 HGNC ENSG00000198945 tier1 - - 50 0 0.00 40 4 9.09 LEO1 0 genome.wustl.edu 37 15 52244058 52244058 + Missense_Mutation SNP G G A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 15 52244058 52244058 G A SNP LEO1 ENST00000299601 human ensembl 74_37 -1 known missense c.1594 p.R532C 1.000 pfam_Leo1 pfam_Leo1 - no_errors LEO1 HGNC ENSG00000166477 tier1 - - 51 0 0.00 30 17 36.17 LGI1 0 genome.wustl.edu 37 10 95537161 95537161 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 10 95537161 95537161 G T SNP LGI1 ENST00000371418 human ensembl 74_37 +1 known missense c.313 p.V105L 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_EPTP,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI1 HGNC ENSG00000108231 tier1 - - 47 0 0.00 62 4 6.06 LINC00693 0 genome.wustl.edu 37 3 28616545 28616545 + RNA SNP C C G TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 3 28616545 28616545 C G SNP LINC00693 ENST00000432518 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors LINC00693 HGNC ENSG00000228214 tier1 - - 23 0 0.00 12 8 40.00 LIPN 0 genome.wustl.edu 37 10 90528642 90528642 + Missense_Mutation SNP G G A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 10 90528642 90528642 G A SNP LIPN ENST00000404459 human ensembl 74_37 +1 known missense c.629 p.G210D 0.014 pfam_AB_hydrolase_1 pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPN HGNC ENSG00000204020 tier1 - - 50 0 0.00 60 4 6.25 LMX1A 0 genome.wustl.edu 37 1 165218762 165218762 + Nonsense_Mutation SNP G G A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 1 165218762 165218762 G A SNP LMX1A ENST00000294816 human ensembl 74_37 -1 known nonsense c.379 p.R127* 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LMX1A HGNC ENSG00000162761 tier1 - - 43 0 0.00 16 14 46.67 LOC101928921 0 genome.wustl.edu 37 11 78807960 78807961 + RNA INS - - GC TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 11 78807960 78807961 - GC INS LOC101928921 ENST00000526091 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors CTD-2337I7.1 Clone_based_vega_gene ENSG00000255345 tier1 20 0 0.00 11 2 15.38 LOC202181 0 genome.wustl.edu 37 5 177099071 177099071 + RNA SNP A A G TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 5 177099071 177099071 A G SNP LOC202181 ENST00000515045 human ensembl 74_37 -1 known rna NULL NULL 0.988 - - - no_errors RP11-1277A3.2 Clone_based_vega_gene ENSG00000246596 10 0 0.00 6 3 33.33 LPAR5 0 genome.wustl.edu 37 12 6729479 6729479 + Silent SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 12 6729479 6729479 G T SNP LPAR5 ENST00000329858 human ensembl 74_37 -1 known silent c.936 p.G312 0.002 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors LPAR5 HGNC ENSG00000184574 12 0 0.00 28 2 6.67 MALAT1 0 genome.wustl.edu 37 11 65271780 65271780 + RNA DEL T T - TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 11 65271780 65271780 T - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 30 0 0.00 17 4 19.05 MAN1B1 0 genome.wustl.edu 37 9 139998105 139998105 + RNA SNP C C A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 9 139998105 139998105 C A SNP MAN1B1 ENST00000540391 human ensembl 74_37 +1 known rna NULL NULL 0.453 - - - no_errors MAN1B1 HGNC ENSG00000177239 tier1 - - 74 0 0.00 132 9 6.16 MAP1B 0 genome.wustl.edu 37 5 71493451 71493451 + Missense_Mutation SNP A A T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 5 71493451 71493451 A T SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known missense c.4269 p.R1423S 0.228 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 tier1 - - 45 0 0.00 13 5 27.78 MICALL1 0 genome.wustl.edu 37 22 38328811 38328811 + Missense_Mutation SNP G G A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 22 38328811 38328811 G A SNP MICALL1 ENST00000215957 human ensembl 74_37 +1 known missense c.2150 p.R717H 0.995 pfam_DUF3585 pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL1 HGNC ENSG00000100139 tier1 - - 87 0 0.00 62 4 6.06 MIR720 0 genome.wustl.edu 37 3 164059129 164059129 + RNA SNP C C G TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 3 164059129 164059129 C G SNP MIR720 ENST00000408828 human ensembl 74_37 +1 known rna NULL NULL 0.049 - - - no_errors MIR720 HGNC ENSG00000221755 tier1 - - 92 0 0.00 179 23 11.39 MLKL 0 genome.wustl.edu 37 16 74729477 74729477 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 16 74729477 74729477 G T SNP MLKL ENST00000308807 human ensembl 74_37 -1 known missense c.179 p.T60K 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLKL HGNC ENSG00000168404 53 0 0.00 76 4 5.00 MLLT1 0 genome.wustl.edu 37 19 6230661 6230661 + Missense_Mutation SNP C C T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 19 6230661 6230661 C T SNP MLLT1 ENST00000252674 human ensembl 74_37 -1 known missense c.340 p.V114M 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT1 HGNC ENSG00000130382 tier1 - - 51 0 0.00 34 4 10.53 MLLT3 0 genome.wustl.edu 37 9 20414280 20414280 + Silent SNP G G A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 9 20414280 20414280 G A SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known silent c.564 p.S188 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 37 0 0.00 26 2 7.14 MMP9 0 genome.wustl.edu 37 20 44637670 44637670 + Silent SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 20 44637670 44637670 G T SNP MMP9 ENST00000372330 human ensembl 74_37 +1 known silent c.105 p.L35 0.003 superfamily_Peptidoglycan-bd-like pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP9 HGNC ENSG00000100985 36 0 0.00 32 2 5.88 MON2 0 genome.wustl.edu 37 12 62887805 62887805 + Missense_Mutation SNP C C A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 12 62887805 62887805 C A SNP MON2 ENST00000393630 human ensembl 74_37 +1 known missense c.286 p.H96N 1.000 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold - no_errors MON2 HGNC ENSG00000061987 tier1 - - 50 0 0.00 65 4 5.80 MPEG1 0 genome.wustl.edu 37 11 58979273 58979273 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 11 58979273 58979273 G T SNP MPEG1 ENST00000361050 human ensembl 74_37 -1 known missense c.1066 p.P356T 0.991 NULL pfam_MACPF,smart_MACPF - no_errors MPEG1 HGNC ENSG00000197629 69 0 0.00 23 2 8.00 MTF2 0 genome.wustl.edu 37 1 93599533 93599533 + Missense_Mutation SNP A A G TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 1 93599533 93599533 A G SNP MTF2 ENST00000370298 human ensembl 74_37 +1 known missense c.1315 p.I439V 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MTF2 HGNC ENSG00000143033 tier1 - - 36 0 0.00 10 8 44.44 MYO5C 0 genome.wustl.edu 37 15 52510733 52510733 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 15 52510733 52510733 G T SNP MYO5C ENST00000261839 human ensembl 74_37 -1 known missense c.3937 p.L1313I 0.882 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5C HGNC ENSG00000128833 46 0 0.00 73 5 6.41 NAA16 0 genome.wustl.edu 37 13 41894959 41894959 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 13 41894959 41894959 G T SNP NAA16 ENST00000379406 human ensembl 74_37 +1 known missense c.401 p.R134L 1.000 pirsf_NatA_aux_su,pfscan_TPR-contain_dom pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR_1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA16 HGNC ENSG00000172766 47 0 0.00 30 2 6.25 NBEAL1 0 genome.wustl.edu 37 2 203972214 203972214 + Silent SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 2 203972214 203972214 G T SNP NBEAL1 ENST00000449802 human ensembl 74_37 +1 known silent c.1254 p.L418 0.933 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 65 0 0.00 65 4 5.80 NCEH1 0 genome.wustl.edu 37 3 172428680 172428680 + Missense_Mutation SNP T T C TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 3 172428680 172428680 T C SNP NCEH1 ENST00000538775 human ensembl 74_37 -1 known missense c.191 p.K64R 1.000 pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase - no_errors NCEH1 HGNC ENSG00000144959 tier1 - - 48 0 0.00 97 30 23.62 NFATC1 0 genome.wustl.edu 37 18 77221366 77221366 + Missense_Mutation SNP G G A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 18 77221366 77221366 G A SNP NFATC1 ENST00000587635 human ensembl 74_37 +1 novel missense c.1874 p.R625Q 0.684 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD - no_errors NFATC1 HGNC ENSG00000131196 100 0 0.00 50 3 5.66 NFATC2 0 genome.wustl.edu 37 20 50092014 50092014 + Missense_Mutation SNP T T G TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 20 50092014 50092014 T G SNP NFATC2 ENST00000396009 human ensembl 74_37 -1 known missense c.1516 p.K506Q 0.987 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 tier1 - - 76 0 0.00 70 4 5.41 NFE2L2 0 genome.wustl.edu 37 2 178098960 178098960 + Missense_Mutation SNP C C G TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 2 178098960 178098960 C G SNP NFE2L2 ENST00000397062 human ensembl 74_37 -1 known missense c.85 p.D29H 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 tier1 - - 20 0 0.00 47 15 24.19 NHSL2 0 genome.wustl.edu 37 X 71359849 71359849 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb X 71359849 71359849 G T SNP NHSL2 ENST00000540800 human ensembl 74_37 +1 known missense c.2451 p.Q817H 0.999 NULL NULL - no_errors NHSL2 HGNC ENSG00000204131 tier1 - - 32 0 0.00 17 3 15.00 NID1 0 genome.wustl.edu 37 1 236189263 236189263 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 1 236189263 236189263 G T SNP NID1 ENST00000264187 human ensembl 74_37 -1 known missense c.1917 p.F639L 0.958 superfamily_GFP,smart_G2_nidogen/fibulin_G2F,pfscan_G2_nidogen/fibulin_G2F pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 20 0 0.00 19 2 9.52 NLRC5 0 genome.wustl.edu 37 16 57079388 57079388 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 16 57079388 57079388 G T SNP NLRC5 ENST00000262510 human ensembl 74_37 +1 known missense c.3232 p.G1078W 0.009 NULL pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 18 0 0.00 26 3 10.34 NPC1L1 0 genome.wustl.edu 37 7 44573140 44573140 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 7 44573140 44573140 G T SNP NPC1L1 ENST00000289547 human ensembl 74_37 -1 known missense c.2299 p.P767T 1.000 pfam_Patched,pfscan_SSD pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 24 0 0.00 23 3 11.54 NR1D1 0 genome.wustl.edu 37 17 38253410 38253410 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 17 38253410 38253410 G T SNP NR1D1 ENST00000246672 human ensembl 74_37 -1 known missense c.278 p.S93Y 0.983 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1D1 HGNC ENSG00000126368 72 0 0.00 69 4 5.48 NRAP 0 genome.wustl.edu 37 10 115364652 115364652 + Missense_Mutation SNP C C T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 10 115364652 115364652 C T SNP NRAP ENST00000369358 human ensembl 74_37 -1 known missense c.3967 p.E1323K 1.000 NULL pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 tier1 - - 31 0 0.00 37 4 9.76 NTPCR 0 genome.wustl.edu 37 1 233113960 233113960 + Nonsense_Mutation SNP C C T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 1 233113960 233113960 C T SNP NTPCR ENST00000366628 human ensembl 74_37 +1 known nonsense c.556 p.Q186* 0.955 superfamily_P-loop_NTPase pfam_Nuc-triphosphatase_THEP1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NTPCR HGNC ENSG00000135778 54 0 0.00 32 2 5.88 OR1S1 0 genome.wustl.edu 37 11 57982677 57982677 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 11 57982677 57982677 G T SNP OR1S1 ENST00000309433 human ensembl 74_37 +1 known missense c.461 p.G154V 0.332 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1S1 HGNC ENSG00000172774 33 0 0.00 31 2 6.06 OR4C6 0 genome.wustl.edu 37 11 55432949 55432949 + Missense_Mutation SNP C C G TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 11 55432949 55432949 C G SNP OR4C6 ENST00000314259 human ensembl 74_37 +1 known missense c.307 p.H103D 0.713 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C6 HGNC ENSG00000181903 tier1 - - 23 0 0.00 9 7 43.75 OR5H1 0 genome.wustl.edu 37 3 97851821 97851821 + Missense_Mutation SNP C C G TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 3 97851821 97851821 C G SNP OR5H1 ENST00000354565 human ensembl 74_37 +1 known missense c.280 p.L94V 0.009 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H1 HGNC ENSG00000231192 tier1 - - 71 0 0.00 105 19 15.32 OTOP2 0 genome.wustl.edu 37 17 72926446 72926446 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 17 72926446 72926446 G T SNP OTOP2 ENST00000331427 human ensembl 74_37 +1 known missense c.716 p.G239V 1.000 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP2 HGNC ENSG00000183034 39 0 0.00 28 4 12.50 PELI1 0 genome.wustl.edu 37 2 64322157 64322157 + Silent SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 2 64322157 64322157 G T SNP PELI1 ENST00000358912 human ensembl 74_37 -1 known silent c.936 p.G312 0.998 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI1 HGNC ENSG00000197329 tier1 - - 28 0 0.00 36 4 9.76 PEX3 0 genome.wustl.edu 37 6 143800301 143800301 + Nonsense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 6 143800301 143800301 G T SNP PEX3 ENST00000367591 human ensembl 74_37 +1 known nonsense c.907 p.E303* 1.000 pfam_Peroxin-3 pfam_Peroxin-3 - no_errors PEX3 HGNC ENSG00000034693 tier1 - - 57 0 0.00 36 4 10.00 PHLDB2 0 genome.wustl.edu 37 3 111603468 111603468 + Nonsense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 3 111603468 111603468 G T SNP PHLDB2 ENST00000393925 human ensembl 74_37 +1 known nonsense c.544 p.G182* 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 27 0 0.00 61 4 6.15 PHYHD1 0 genome.wustl.edu 37 9 131702968 131702968 + Missense_Mutation SNP T T C TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 9 131702968 131702968 T C SNP PHYHD1 ENST00000308941 human ensembl 74_37 +1 known missense c.655 p.S219P 0.199 NULL pfam_Phytyl_CoA_dOase - no_errors PHYHD1 HGNC ENSG00000175287 tier1 - - 75 0 0.00 21 49 70.00 PILRB 0 genome.wustl.edu 37 7 99956495 99956495 + Missense_Mutation SNP A A G TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 7 99956495 99956495 A G SNP PILRB ENST00000444073 human ensembl 74_37 +1 known missense c.247 p.S83G 0.026 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors PILRB HGNC ENSG00000121716 46 0 0.00 46 5 9.80 PIP4K2B 0 genome.wustl.edu 37 17 36935734 36935734 + Missense_Mutation SNP T T C TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 17 36935734 36935734 T C SNP PIP4K2B ENST00000269554 human ensembl 74_37 -1 known missense c.556 p.M186V 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP4K2B HGNC ENSG00000141720 tier1 - - 51 0 0.00 43 20 31.75 PKHD1L1 0 genome.wustl.edu 37 8 110492355 110492355 + Missense_Mutation SNP A A C TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 8 110492355 110492355 A C SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.9314 p.Y3105S 1.000 pfam_G8_domain pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 27 0 0.00 19 6 24.00 PRDM9 0 genome.wustl.edu 37 5 23509631 23509631 + Missense_Mutation SNP C C A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 5 23509631 23509631 C A SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known missense c.122 p.A41E 0.958 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 89 0 0.00 45 3 6.12 PSMD2 0 genome.wustl.edu 37 3 184024572 184024572 + Missense_Mutation SNP A A G TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 3 184024572 184024572 A G SNP PSMD2 ENST00000310118 human ensembl 74_37 +1 known missense c.1984 p.M662V 1.000 superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 - no_errors PSMD2 HGNC ENSG00000175166 tier1 - - 76 0 0.00 166 34 17.00 PXDNL 0 genome.wustl.edu 37 8 52323921 52323921 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 8 52323921 52323921 G T SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.1951 p.R651S 0.003 NULL pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 43 0 0.00 53 3 5.36 R3HDM2 0 genome.wustl.edu 37 12 57663120 57663120 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 12 57663120 57663120 G T SNP R3HDM2 ENST00000347140 human ensembl 74_37 -1 known missense c.1658 p.P553Q 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM2 HGNC ENSG00000179912 tier1 - - 70 0 0.00 51 4 7.27 RAB2A 0 genome.wustl.edu 37 8 61496838 61496838 + Silent SNP C C T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 8 61496838 61496838 C T SNP RAB2A ENST00000262646 human ensembl 74_37 +1 known silent c.258 p.Y86 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB2A HGNC ENSG00000104388 tier1 - - 76 0 0.00 35 32 47.76 RAB3GAP1 0 genome.wustl.edu 37 2 135920326 135920326 + Nonsense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 2 135920326 135920326 G T SNP RAB3GAP1 ENST00000264158 human ensembl 74_37 +1 known nonsense c.2395 p.E799* 1.000 NULL NULL - no_errors RAB3GAP1 HGNC ENSG00000115839 tier1 - - 31 0 0.00 19 3 13.64 RBAK 0 genome.wustl.edu 37 7 5103473 5103473 + Missense_Mutation SNP C C A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 7 5103473 5103473 C A SNP RBAK ENST00000353796 human ensembl 74_37 +1 known missense c.386 p.P129H 0.016 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 RBAK HGNC ENSG00000146587 tier1 - - 72 0 0.00 60 4 6.25 RBM14 0 genome.wustl.edu 37 11 66391808 66391808 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 11 66391808 66391808 G T SNP RBM14 ENST00000310137 human ensembl 74_37 +1 known missense c.461 p.G154V 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM14 HGNC ENSG00000239306 tier1 - - 94 0 0.00 38 4 9.52 RBM5 0 genome.wustl.edu 37 3 50150892 50150892 + Missense_Mutation SNP C C T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 3 50150892 50150892 C T SNP RBM5 ENST00000347869 human ensembl 74_37 +1 known missense c.1532 p.S511F 0.008 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM5 HGNC ENSG00000003756 tier1 - - 55 0 0.00 21 24 53.33 RGS22 0 genome.wustl.edu 37 8 101018284 101018284 + Silent SNP T T A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 8 101018284 101018284 T A SNP RGS22 ENST00000360863 human ensembl 74_37 -1 known silent c.2415 p.L805 0.984 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 28 0 0.00 32 5 13.51 RUFY2 0 genome.wustl.edu 37 10 70154087 70154087 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 10 70154087 70154087 G T SNP RUFY2 ENST00000388768 human ensembl 74_37 -1 known missense c.625 p.Q209K 1.000 NULL pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors RUFY2 HGNC ENSG00000204130 74 0 0.00 69 4 5.48 RUNX2 0 genome.wustl.edu 37 6 45514591 45514591 + Missense_Mutation SNP A A T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 6 45514591 45514591 A T SNP RUNX2 ENST00000352853 human ensembl 74_37 +1 known missense c.1319 p.D440V 1.000 NULL pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 tier1 - - 32 0 0.00 29 14 32.56 RYR3 0 genome.wustl.edu 37 15 34105086 34105086 + Nonsense_Mutation SNP G G A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 15 34105086 34105086 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known nonsense c.10280 p.W3427* 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 83 0 0.00 32 17 34.69 SASS6 0 genome.wustl.edu 37 1 100568546 100568546 + Missense_Mutation SNP C C T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 1 100568546 100568546 C T SNP SASS6 ENST00000287482 human ensembl 74_37 -1 known missense c.1639 p.A547T 0.951 NULL NULL - no_errors SASS6 HGNC ENSG00000156876 tier1 - - 46 0 0.00 30 4 11.76 SCAF4 0 genome.wustl.edu 37 21 33063188 33063188 + Missense_Mutation SNP G G A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 21 33063188 33063188 G A SNP SCAF4 ENST00000286835 human ensembl 74_37 -1 known missense c.1807 p.P603S 1.000 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 tier1 - - 49 0 0.00 33 24 42.11 SCN7A 0 genome.wustl.edu 37 2 167262253 167262253 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 2 167262253 167262253 G T SNP SCN7A ENST00000409855 human ensembl 74_37 -1 known missense c.4886 p.A1629E 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 31 0 0.00 35 2 5.41 SCUBE3 0 genome.wustl.edu 37 6 35205712 35205712 + Missense_Mutation SNP G G A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 6 35205712 35205712 G A SNP SCUBE3 ENST00000394681 human ensembl 74_37 +1 known missense c.794 p.S265N 1.000 smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,prints_Thrombomodulin pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors SCUBE3 HGNC ENSG00000146197 tier1 - - 84 0 0.00 43 22 33.85 SEMA4F 0 genome.wustl.edu 37 2 74902937 74902937 + Missense_Mutation SNP G G A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 2 74902937 74902937 G A SNP SEMA4F ENST00000357877 human ensembl 74_37 +1 known missense c.1544 p.R515H 0.429 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA4F HGNC ENSG00000135622 tier1 - - 39 0 0.00 33 18 35.29 SERPINA6 0 genome.wustl.edu 37 14 94780486 94780486 + Missense_Mutation SNP C C T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 14 94780486 94780486 C T SNP SERPINA6 ENST00000341584 human ensembl 74_37 -1 known missense c.500 p.S167N 0.076 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA6 HGNC ENSG00000170099 49 0 0.00 39 3 6.98 SKIDA1 0 genome.wustl.edu 37 10 21805720 21805720 + Silent SNP A A G TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 10 21805720 21805720 A G SNP SKIDA1 ENST00000449193 human ensembl 74_37 -1 known silent c.1032 p.H344 0.972 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors SKIDA1 HGNC ENSG00000180592 14 0 0.00 41 4 8.89 SLC22A24 0 genome.wustl.edu 37 11 62886317 62886317 + Silent SNP C C T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 11 62886317 62886317 C T SNP SLC22A24 ENST00000326192 human ensembl 74_37 -1 known silent c.897 p.L299 0.001 pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A24 HGNC ENSG00000197658 tier1 - - 62 0 0.00 18 23 56.10 SLC30A5 0 genome.wustl.edu 37 5 68423939 68423939 + Missense_Mutation SNP G G C TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 5 68423939 68423939 G C SNP SLC30A5 ENST00000396591 human ensembl 74_37 +1 known missense c.2107 p.E703Q 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A5 HGNC ENSG00000145740 tier1 - - 65 0 0.00 39 11 22.00 SLC51B 0 genome.wustl.edu 37 15 65342383 65342383 + Missense_Mutation SNP C C T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 15 65342383 65342383 C T SNP SLC51B ENST00000334287 human ensembl 74_37 +1 known missense c.41 p.T14I 0.004 NULL NULL - no_errors SLC51B HGNC ENSG00000186198 tier1 - - 51 0 0.00 48 4 7.69 SMAD2 0 genome.wustl.edu 37 18 45395775 45395775 + Missense_Mutation SNP C C A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 18 45395775 45395775 C A SNP SMAD2 ENST00000262160 human ensembl 74_37 -1 known missense c.359 p.R120L 1.000 pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1 pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD2 HGNC ENSG00000175387 42 0 0.00 36 2 5.26 SNORA76 0 genome.wustl.edu 37 17 62223820 62223820 + RNA SNP C C T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 17 62223820 62223820 C T SNP SNORA76 ENST00000408535 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORA76 HGNC ENSG00000266402 58 0 0.00 68 4 5.56 SNTG2 0 genome.wustl.edu 37 2 1371139 1371139 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 2 1371139 1371139 G T SNP SNTG2 ENST00000308624 human ensembl 74_37 +1 known missense c.1513 p.A505S 0.239 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 28 0 0.00 46 5 9.80 SNX29P2 0 genome.wustl.edu 37 16 29376056 29376056 + RNA SNP T T A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 16 29376056 29376056 T A SNP SNX29P2 ENST00000356328 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNX29P2 HGNC ENSG00000198106 57 0 0.00 50 5 9.09 SPAG1 0 genome.wustl.edu 37 8 101203620 101203620 + Missense_Mutation SNP C C A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 8 101203620 101203620 C A SNP SPAG1 ENST00000251809 human ensembl 74_37 +1 known missense c.835 p.L279I 1.000 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SPAG1 HGNC ENSG00000104450 45 0 0.00 19 2 9.52 SPATA31D1 0 genome.wustl.edu 37 9 84606906 84606906 + Silent SNP C C T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 9 84606906 84606906 C T SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known silent c.1521 p.L507 0.684 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 tier1 - - 90 0 0.00 148 27 15.43 SPATA9 0 genome.wustl.edu 37 5 95018554 95018554 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 5 95018554 95018554 G T SNP SPATA9 ENST00000274432 human ensembl 74_37 -1 known missense c.5 p.P2Q 0.955 NULL NULL - no_errors SPATA9 HGNC ENSG00000145757 54 0 0.00 68 4 5.56 SPG11 0 genome.wustl.edu 37 15 44887495 44887495 + Missense_Mutation SNP T T A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 15 44887495 44887495 T A SNP SPG11 ENST00000261866 human ensembl 74_37 -1 known missense c.4597 p.S1533C 0.999 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 tier1 - - 40 0 0.00 45 11 19.64 SPTBN4 0 genome.wustl.edu 37 19 41008712 41008712 + Nonsense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 19 41008712 41008712 G T SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known nonsense c.1234 p.E412* 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 tier1 - - 20 0 0.00 15 3 16.67 SRRM3 0 genome.wustl.edu 37 7 75890892 75890892 + Missense_Mutation SNP C C T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 7 75890892 75890892 C T SNP SRRM3 ENST00000388802 human ensembl 74_37 +1 known missense c.667 p.R223W 1.000 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM3 HGNC ENSG00000177679 tier1 - - 51 0 0.00 47 4 7.84 STAG3L4 0 genome.wustl.edu 37 7 66767623 66767623 + RNA SNP T T C TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 7 66767623 66767623 T C SNP STAG3L4 ENST00000416602 human ensembl 74_37 +1 known rna NULL NULL 0.016 - - - no_errors STAG3L4 HGNC ENSG00000106610 tier1 - - 78 0 0.00 79 6 6.90 STK4 0 genome.wustl.edu 37 20 43623730 43623730 + Splice_Site SNP G G A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 20 43623730 43623730 G A SNP STK4 ENST00000372806 human ensembl 74_37 +1 known splice_site c.526-1 e6-1 1.000 - - - no_errors STK4 HGNC ENSG00000101109 tier1 - - 110 0 0.00 73 4 5.19 TCHH 0 genome.wustl.edu 37 1 152084720 152084720 + Missense_Mutation SNP G G C TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 1 152084720 152084720 G C SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.973 p.Q325E 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 tier1 - - 43 0 0.00 78 7 8.24 TENM2 0 genome.wustl.edu 37 5 167420090 167420090 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 5 167420090 167420090 G T SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known missense c.1089 p.K363N 1.000 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 tier1 - - 59 0 0.00 44 4 8.33 THSD4 0 genome.wustl.edu 37 15 72050278 72050278 + Missense_Mutation SNP C C T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 15 72050278 72050278 C T SNP THSD4 ENST00000261862 human ensembl 74_37 +1 known missense c.2453 p.S818L 0.969 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors THSD4 HGNC ENSG00000187720 tier1 - - 24 0 0.00 17 10 37.04 TMEM150A 0 genome.wustl.edu 37 2 85826346 85826346 + Silent SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 2 85826346 85826346 G T SNP TMEM150A ENST00000334462 human ensembl 74_37 -1 known silent c.669 p.G223 1.000 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 - no_errors TMEM150A HGNC ENSG00000168890 tier1 - - 70 0 0.00 56 4 6.67 TMEM239 0 genome.wustl.edu 37 20 2795992 2795992 + Frame_Shift_Del DEL G G - TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 20 2795992 2795992 G - DEL TMEM239 ENST00000554164 human ensembl 74_37 +1 known frame_shift_del c.162 p.A56fs 0.954 NULL NULL - no_errors TMEM239 HGNC ENSG00000198326 tier1 33 0 0.00 22 2 8.33 TOMM70A 0 genome.wustl.edu 37 3 100105093 100105093 + Silent SNP C C T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 3 100105093 100105093 C T SNP TOMM70A ENST00000284320 human ensembl 74_37 -1 known silent c.594 p.E198 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TOMM70A HGNC ENSG00000154174 tier1 - - 61 0 0.00 91 27 22.88 TP53 0 genome.wustl.edu 37 17 7578223 7578223 + Missense_Mutation SNP C C T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 17 7578223 7578223 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.626 p.R209K 0.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 101 0 0.00 21 26 55.32 TP53 0 genome.wustl.edu 37 17 7578265 7578265 + Missense_Mutation SNP A A T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 17 7578265 7578265 A T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.584 p.I195N 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 107 0 0.00 18 25 58.14 TRIB2 0 genome.wustl.edu 37 2 12880890 12880890 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 2 12880890 12880890 G T SNP TRIB2 ENST00000155926 human ensembl 74_37 +1 known missense c.1002 p.M334I 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TRIB2 HGNC ENSG00000071575 35 0 0.00 44 3 6.38 TRPM1 0 genome.wustl.edu 37 15 31325061 31325061 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 15 31325061 31325061 G T SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known missense c.2834 p.A945D 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 tier1 - - 75 0 0.00 64 4 5.88 TRRAP 0 genome.wustl.edu 37 7 98579513 98579513 + Missense_Mutation SNP G G A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 7 98579513 98579513 G A SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.8735 p.S2912N 1.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 tier1 - - 26 0 0.00 34 5 12.82 TTC14 0 genome.wustl.edu 37 3 180328087 180328087 + Missense_Mutation SNP C C G TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 3 180328087 180328087 C G SNP TTC14 ENST00000296015 human ensembl 74_37 +1 known missense c.2070 p.H690Q 0.000 NULL pfam_TPR_1,superfamily_NA-bd_OB-fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors TTC14 HGNC ENSG00000163728 tier1 - - 47 0 0.00 60 15 20.00 TTC21A 0 genome.wustl.edu 37 3 39172257 39172257 + Silent SNP C C A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 3 39172257 39172257 C A SNP TTC21A ENST00000301819 human ensembl 74_37 +1 known silent c.2409 p.G803 0.861 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC ENSG00000168026 tier1 - - 56 0 0.00 35 4 10.26 UBR1 0 genome.wustl.edu 37 15 43367261 43367261 + Silent SNP G G A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 15 43367261 43367261 G A SNP UBR1 ENST00000290650 human ensembl 74_37 -1 known silent c.444 p.F148 0.999 pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR1 HGNC ENSG00000159459 tier1 - - 29 0 0.00 35 23 39.66 USP46 0 genome.wustl.edu 37 4 53494205 53494205 + Silent SNP C C T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 4 53494205 53494205 C T SNP USP46 ENST00000441222 human ensembl 74_37 -1 known silent c.243 p.A81 0.988 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP46 HGNC ENSG00000109189 tier1 - - 71 0 0.00 62 23 27.06 USP9Y 0 genome.wustl.edu 37 Y 14968773 14968773 + RNA DEL A A - TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb Y 14968773 14968773 A - DEL USP9Y ENST00000471409 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors USP9Y HGNC ENSG00000114374 tier1 27 0 0.00 9 3 25.00 UTP14A 0 genome.wustl.edu 37 X 129047355 129047356 + Frame_Shift_Ins INS - - A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb X 129047355 129047356 - A INS UTP14A ENST00000371042 human ensembl 74_37 +1 known frame_shift_ins c.17_18 p.K10fs 0.814:0.011 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14A HGNC ENSG00000156697 tier1 65 0 0.00 41 7 14.58 VPS4A 0 genome.wustl.edu 37 16 69349973 69349973 + Silent SNP G G A TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 16 69349973 69349973 G A SNP VPS4A ENST00000254950 human ensembl 74_37 +1 known silent c.84 p.A28 0.222 pfam_MIT,smart_MIT pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase - no_errors VPS4A HGNC ENSG00000132612 tier1 - - 47 0 0.00 43 5 10.42 WDFY4 0 genome.wustl.edu 37 10 49996594 49996594 + Missense_Mutation SNP A A T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 10 49996594 49996594 A T SNP WDFY4 ENST00000325239 human ensembl 74_37 +1 known missense c.3828 p.E1276D 0.002 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 tier1 - - 93 0 0.00 63 21 25.00 WHSC1 0 genome.wustl.edu 37 4 1959724 1959724 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 4 1959724 1959724 G T SNP WHSC1 ENST00000382891 human ensembl 74_37 +1 known missense c.2946 p.Q982H 0.999 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom - no_errors WHSC1 HGNC ENSG00000109685 tier1 - - 47 0 0.00 20 4 16.67 WTAP 0 genome.wustl.edu 37 6 160176201 160176201 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 6 160176201 160176201 G T SNP WTAP ENST00000358372 human ensembl 74_37 +1 known missense c.749 p.S250I 0.516 NULL NULL - no_errors WTAP HGNC ENSG00000146457 25 0 0.00 25 2 7.14 XPR1 0 genome.wustl.edu 37 1 180601390 180601390 + Missense_Mutation SNP A A C TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 1 180601390 180601390 A C SNP XPR1 ENST00000367590 human ensembl 74_37 +1 known missense c.53 p.Q18P 1.000 pfam_SPX_N pfam_EXS_C,pfam_SPX_N - no_errors XPR1 HGNC ENSG00000143324 tier1 - - 83 0 0.00 67 8 10.67 ZNF140 0 genome.wustl.edu 37 12 133682650 133682650 + Missense_Mutation SNP C C T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 12 133682650 133682650 C T SNP ZNF140 ENST00000355557 human ensembl 74_37 +1 known missense c.787 p.H263Y 1.000 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 ZNF140 HGNC ENSG00000196387 tier1 - - 33 0 0.00 28 9 24.32 ZNF254 0 genome.wustl.edu 37 19 24309076 24309076 + Missense_Mutation SNP C C G TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 19 24309076 24309076 C G SNP ZNF254 ENST00000357002 human ensembl 74_37 +1 known missense c.274 p.Q92E 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 ZNF254 HGNC ENSG00000213096 tier1 - - 49 0 0.00 24 14 36.84 ZNF257 0 genome.wustl.edu 37 19 22271249 22271249 + Nonsense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 19 22271249 22271249 G T SNP ZNF257 ENST00000594947 human ensembl 74_37 +1 known nonsense c.697 p.E233* 0.066 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 ZNF257 HGNC ENSG00000197134 tier1 - - 57 0 0.00 35 10 22.22 ZNF268 0 genome.wustl.edu 37 12 133779243 133779243 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 12 133779243 133779243 G T SNP ZNF268 ENST00000228289 human ensembl 74_37 +1 known missense c.971 p.R324I 0.631 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 ZNF268 HGNC ENSG00000090612 42 0 0.00 34 2 5.56 ZNF274 0 genome.wustl.edu 37 19 58723016 58723016 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 19 58723016 58723016 G T SNP ZNF274 ENST00000326804 human ensembl 74_37 +1 known missense c.940 p.V314L 0.998 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF274 HGNC ENSG00000171606 tier1 - - 52 0 0.00 41 4 8.89 ZNF548 0 genome.wustl.edu 37 19 57910927 57910927 + Silent SNP C C T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 19 57910927 57910927 C T SNP ZNF548 ENST00000336128 human ensembl 74_37 +1 known silent c.1308 p.S436 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 ZNF548 HGNC ENSG00000188785 tier1 - - 70 0 0.00 35 13 27.08 ZNF660 0 genome.wustl.edu 37 3 44636478 44636478 + Frame_Shift_Del DEL C C - TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 3 44636478 44636478 C - DEL ZNF660 ENST00000322734 human ensembl 74_37 +1 known frame_shift_del c.793 p.Q265fs 0.996 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF660 HGNC ENSG00000144792 tier1 57 0 0.00 19 2 9.52 ZNF831 0 genome.wustl.edu 37 20 57770966 57770966 + Missense_Mutation SNP G G T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb 20 57770966 57770966 G T SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.3781 p.V1261L 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 tier1 - - 67 0 0.00 73 4 5.19 ZXDB 0 genome.wustl.edu 37 X 57620063 57620063 + Missense_Mutation SNP C C T TCGA-VR-A8ER-01A-11D-A36J-09 TCGA-VR-A8ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4287c063-759e-4890-b9ae-7fd4d4024def df77230e-6025-40d1-9b1a-862fdea0faeb X 57620063 57620063 C T SNP ZXDB ENST00000374888 human ensembl 74_37 +1 known missense c.1582 p.R528C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDB HGNC ENSG00000198455 tier1 - - 23 0 0.00 10 17 62.96