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 ACLY 47 genome.wustl.edu 37 17 40070105 40070105 + Missense_Mutation SNP C C G TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 17 40070105 40070105 C G SNP ACLY ENST00000352035 human ensembl 70_37 -1 known missense c.22 p.E8Q 1.000 pirsf_ATP-citrate_synthase pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase - no_errors ACLY HGNC ACOT12 134526 genome.wustl.edu 37 5 80626633 80626633 + Silent SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 5 80626633 80626633 G A SNP ACOT12 ENST00000307624 human ensembl 70_37 -1 known silent c.1518 p.I506 0.185 pfam_START_lipid-bd,pfscan_START_lipid-bd pfam_Thioestr_supf,pfam_START_lipid-bd,pfscan_START_lipid-bd - no_errors ACOT12 HGNC ACR 49 genome.wustl.edu 37 22 51183146 51183146 + Silent SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 22 51183146 51183146 C T SNP ACR ENST00000216139 human ensembl 70_37 +1 known silent c.777 p.I259 0.829 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_acrosin,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_acrosin,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors ACR HGNC ADAM8 101 genome.wustl.edu 37 10 135084281 135084281 + Silent SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 10 135084281 135084281 G A SNP ADAM8 ENST00000445355 human ensembl 70_37 -1 known silent c.1593 p.F531 0.110 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,pfam_ADAM_Cys-rich,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 ADAM8 HGNC AIM2 9447 genome.wustl.edu 37 1 159035774 159035774 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 159035774 159035774 C T SNP AIM2 ENST00000368130 human ensembl 70_37 -1 known missense c.742 p.E248K 0.009 pfam_HIN200/IF120x,superfamily_NA-bd_OB-fold-like,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,superfamily_NA-bd_OB-fold-like,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors AIM2 HGNC AKNAD1 254268 genome.wustl.edu 37 1 109394361 109394361 + Nonsense_Mutation SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 109394361 109394361 G C SNP AKNAD1 ENST00000370001 human ensembl 70_37 -1 known nonsense c.926 p.S309* 0.007 NULL pfam_TF_AT-hook - no_errors AKNAD1 HGNC ALG6 29929 genome.wustl.edu 37 1 63902674 63902674 + Missense_Mutation SNP C C G TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 63902674 63902674 C G SNP ALG6 ENST00000263440 human ensembl 70_37 +1 known missense c.1513 p.Q505E 1.000 NULL pfam_Glyco_trans_ALG6/ALG8 - no_errors ALG6 HGNC ALS2 57679 genome.wustl.edu 37 2 202619275 202619275 + Missense_Mutation SNP A A T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 2 202619275 202619275 A T SNP ALS2 ENST00000264276 human ensembl 70_37 -1 known missense c.1591 p.W531R 1.000 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens - no_errors ALS2 HGNC ALS2 57679 genome.wustl.edu 37 2 202619287 202619287 + Nonsense_Mutation SNP C C A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 2 202619287 202619287 C A SNP ALS2 ENST00000264276 human ensembl 70_37 -1 known nonsense c.1579 p.E527* 1.000 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens - no_errors ALS2 HGNC ALX4 60529 genome.wustl.edu 37 11 44289058 44289058 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 11 44289058 44289058 C T SNP ALX4 ENST00000329255 human ensembl 70_37 -1 known missense c.892 p.E298K 1.000 NULL pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain - no_errors ALX4 HGNC ANK3 288 genome.wustl.edu 37 10 61835654 61835654 + Nonsense_Mutation SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 10 61835654 61835654 G C SNP ANK3 ENST00000280772 human ensembl 70_37 -1 known nonsense c.4985 p.S1662* 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ANKRD30A 91074 genome.wustl.edu 37 10 37431083 37431083 + Missense_Mutation SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 10 37431083 37431083 G C SNP ANKRD30A ENST00000361713 human ensembl 70_37 +1 known missense c.1090 p.E364Q 0.011 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ANKRD44 91526 genome.wustl.edu 37 2 197990563 197990563 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 2 197990563 197990563 C T SNP ANKRD44 ENST00000328737 human ensembl 70_37 -1 known missense c.385 p.E129K 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD44 HGNC ARHGDIA 396 genome.wustl.edu 37 17 79827245 79827245 + Silent SNP C C A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 17 79827245 79827245 C A SNP ARHGDIA ENST00000269321 human ensembl 70_37 -1 known silent c.312 p.L104 0.999 pfam_Rho_GDI,superfamily_Ig_E-set pfam_Rho_GDI,superfamily_Ig_E-set,prints_Rho_GDI - no_errors ARHGDIA HGNC ARMCX2 9823 genome.wustl.edu 37 X 100911645 100911645 + Silent SNP G G T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b X 100911645 100911645 G T SNP ARMCX2 ENST00000328766 human ensembl 70_37 -1 known silent c.930 p.G310 0.998 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMCX2 HGNC ASB4 51666 genome.wustl.edu 37 7 95157138 95157138 + Silent SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 7 95157138 95157138 C T SNP ASB4 ENST00000325885 human ensembl 70_37 +1 known silent c.501 p.N167 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB4 HGNC B3GNTL1 146712 genome.wustl.edu 37 17 80963069 80963069 + Silent SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 17 80963069 80963069 C T SNP B3GNTL1 ENST00000320865 human ensembl 70_37 -1 known silent c.426 p.V142 0.928 pfam_Glyco_trans_2 pfam_Glyco_trans_2 - no_errors B3GNTL1 HGNC BAI1 575 genome.wustl.edu 37 8 143623644 143623644 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 8 143623644 143623644 C T SNP BAI1 ENST00000323289 human ensembl 70_37 +1 known missense c.4049 p.T1350M 0.502 NULL pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC BAIAP2 10458 genome.wustl.edu 37 17 79073865 79073865 + Silent SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 17 79073865 79073865 G A SNP BAIAP2 ENST00000321300 human ensembl 70_37 +1 known silent c.627 p.A209 0.700 pfam_IRSp53/MIM_homology_IMD pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2 HGNC BEST3 144453 genome.wustl.edu 37 12 70048731 70048731 + Missense_Mutation SNP C C G TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 12 70048731 70048731 C G SNP BEST3 ENST00000330891 human ensembl 70_37 -1 known missense c.1963 p.D655H 0.968 NULL pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC BRPF1 7862 genome.wustl.edu 37 3 9784651 9784651 + Missense_Mutation SNP C C G TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 3 9784651 9784651 C G SNP BRPF1 ENST00000383829 human ensembl 70_37 +1 known missense c.2025 p.I675M 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF1 HGNC BRS3 680 genome.wustl.edu 37 X 135570306 135570306 + Missense_Mutation SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b X 135570306 135570306 G C SNP BRS3 ENST00000370648 human ensembl 70_37 +1 known missense c.33 p.Q11H 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombesin_rcpt_3,prints_Bombsn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors BRS3 HGNC C6orf118 168090 genome.wustl.edu 37 6 165715629 165715629 + Missense_Mutation SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 6 165715629 165715629 G C SNP C6orf118 ENST00000230301 human ensembl 70_37 -1 known missense c.182 p.S61C 0.142 NULL superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC CAMK2G 818 genome.wustl.edu 37 10 75608805 75608805 + Silent SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 10 75608805 75608805 G A SNP CAMK2G ENST00000423381 human ensembl 70_37 -1 known silent c.483 p.A161 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CAMK2G HGNC CCBL1 883 genome.wustl.edu 37 9 131607662 131607662 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 9 131607662 131607662 C T SNP CCBL1 ENST00000436267 human ensembl 70_37 -1 known missense c.305 p.R102Q 1.000 superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors CCBL1 HGNC ACKR4 51554 genome.wustl.edu 37 3 132319907 132319907 + Silent SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 3 132319907 132319907 C T SNP CCRL1 ENST00000249887 human ensembl 70_37 +1 known silent c.666 p.I222 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR11,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CCRL1 HGNC CDK12 51755 genome.wustl.edu 37 17 37627763 37627763 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 17 37627763 37627763 C T SNP CDK12 ENST00000447079 human ensembl 70_37 +1 known missense c.1678 p.L560F 0.456 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK12 HGNC CEND1 51286 genome.wustl.edu 37 11 788486 788486 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 11 788486 788486 C T SNP CEND1 ENST00000330106 human ensembl 70_37 -1 known missense c.91 p.D31N 0.604 NULL NULL - no_errors CEND1 HGNC CHST1 8534 genome.wustl.edu 37 11 45671568 45671568 + Silent SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 11 45671568 45671568 G A SNP CHST1 ENST00000308064 human ensembl 70_37 -1 known silent c.906 p.Y302 0.998 pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST1 HGNC COL15A1 1306 genome.wustl.edu 37 9 101748328 101748328 + Missense_Mutation SNP G G T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 9 101748328 101748328 G T SNP COL15A1 ENST00000375001 human ensembl 70_37 +1 known missense c.582 p.L194F 0.834 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC CPSF1 29894 genome.wustl.edu 37 8 145624185 145624185 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 8 145624185 145624185 G A SNP CPSF1 ENST00000349769 human ensembl 70_37 -1 known missense c.1622 p.P541L 0.003 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC CRTC2 200186 genome.wustl.edu 37 1 153920586 153920586 + Silent SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 153920586 153920586 C T SNP CRTC2 ENST00000368633 human ensembl 70_37 -1 known silent c.2081 p.*694 1.000 NULL NULL - no_errors CRTC2 HGNC DENND2C 163259 genome.wustl.edu 37 1 115166155 115166155 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 115166155 115166155 C T SNP DENND2C ENST00000393274 human ensembl 70_37 -1 known missense c.916 p.E306K 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC DHRS12 79758 genome.wustl.edu 37 13 52346018 52346018 + Nonsense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 13 52346018 52346018 C T SNP DHRS12 ENST00000444610 human ensembl 70_37 -1 known nonsense c.645 p.W215* 0.673 pfam_Epimerase_deHydtase pfam_DH_sc/Rdtase_SDR,pfam_Epimerase_deHydtase,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors DHRS12 HGNC DNAH5 1767 genome.wustl.edu 37 5 13868031 13868031 + Missense_Mutation SNP A A T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 5 13868031 13868031 A T SNP DNAH5 ENST00000265104 human ensembl 70_37 -1 known missense c.3905 p.L1302Q 0.998 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC DOCK7 85440 genome.wustl.edu 37 1 63044519 63044519 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 63044519 63044519 C T SNP DOCK7 ENST00000251157 human ensembl 70_37 -1 known missense c.1990 p.E664K 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC DRG1 4733 genome.wustl.edu 37 22 31823084 31823084 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 22 31823084 31823084 C T SNP DRG1 ENST00000331457 human ensembl 70_37 +1 known missense c.920 p.S307F 0.983 pfam_TGS pfam_TGS,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_TGS-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors DRG1 HGNC DTX3L 151636 genome.wustl.edu 37 3 122287480 122287480 + Missense_Mutation SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 3 122287480 122287480 G C SNP DTX3L ENST00000296161 human ensembl 70_37 +1 known missense c.544 p.E182Q 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3L HGNC DYNC1H1 1778 genome.wustl.edu 37 14 102516087 102516087 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 14 102516087 102516087 G A SNP DYNC1H1 ENST00000360184 human ensembl 70_37 +1 known missense c.13552 p.E4518K 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENAH 55740 genome.wustl.edu 37 1 225699534 225699534 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 225699534 225699534 C T SNP ENAH ENST00000366844 human ensembl 70_37 -1 known missense c.1450 p.A484T 0.520 NULL pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1 - no_errors ENAH HGNC ENO1 2023 genome.wustl.edu 37 1 8923388 8923389 + Frame_Shift_Ins INS - - G TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 8923388 8923389 - G INS ENO1 ENST00000234590 human ensembl 70_37 -1 known frame_shift_ins c.1082_1081 p.Q361fs 1.000:1.000 pfam_Enolase_C,pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO1 HGNC EPG5 57724 genome.wustl.edu 37 18 43532381 43532381 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 18 43532381 43532381 G A SNP EPG5 ENST00000282041 human ensembl 70_37 -1 known missense c.1237 p.H413Y 0.967 NULL NULL - no_errors EPG5 HGNC ETHE1 23474 genome.wustl.edu 37 19 44030500 44030500 + Silent SNP C C A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 19 44030500 44030500 C A SNP ETHE1 ENST00000292147 human ensembl 70_37 -1 known silent c.228 p.V76 1.000 pfam_Beta-lactamas-like,smart_Beta-lactamas-like pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors ETHE1 HGNC FAIM 55179 genome.wustl.edu 37 3 138341033 138341033 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 3 138341033 138341033 G A SNP FAIM ENST00000338446 human ensembl 70_37 +1 known missense c.217 p.E73K 1.000 pfam_FAIM pfam_FAIM - no_errors FAIM HGNC FBN2 2201 genome.wustl.edu 37 5 127800434 127800434 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 5 127800434 127800434 C T SNP FBN2 ENST00000262464 human ensembl 70_37 -1 known missense c.809 p.R270H 1.000 superfamily_TB_dom,pirsf_FBN pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN2 HGNC FBXO42 54455 genome.wustl.edu 37 1 16577862 16577862 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 16577862 16577862 C T SNP FBXO42 ENST00000375592 human ensembl 70_37 -1 known missense c.1457 p.R486Q 0.986 NULL pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO42 HGNC FBXO42 54455 genome.wustl.edu 37 1 16577905 16577905 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 16577905 16577905 C T SNP FBXO42 ENST00000375592 human ensembl 70_37 -1 known missense c.1414 p.E472K 1.000 NULL pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO42 HGNC FBXW9 84261 genome.wustl.edu 37 19 12805444 12805444 + Missense_Mutation SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 19 12805444 12805444 G C SNP FBXW9 ENST00000380339 human ensembl 70_37 -1 known missense c.642 p.I214M 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW9 HGNC FLG 2312 genome.wustl.edu 37 1 152286055 152286055 + Nonsense_Mutation SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 152286055 152286055 G C SNP FLG ENST00000368799 human ensembl 70_37 -1 known nonsense c.1307 p.S436* 0.001 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC FNDC1 84624 genome.wustl.edu 37 6 159655334 159655334 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 6 159655334 159655334 C T SNP FNDC1 ENST00000297267 human ensembl 70_37 +1 known missense c.3790 p.R1264C 0.004 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC GPATCH3 63906 genome.wustl.edu 37 1 27223812 27223812 + Missense_Mutation SNP C C G TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 27223812 27223812 C G SNP GPATCH3 ENST00000361720 human ensembl 70_37 -1 known missense c.856 p.E286Q 0.914 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH3 HGNC GPR155 151556 genome.wustl.edu 37 2 175330601 175330601 + Missense_Mutation SNP C C G TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 2 175330601 175330601 C G SNP GPR155 ENST00000295500 human ensembl 70_37 -1 known missense c.1296 p.W432C 1.000 NULL pfam_Auxin_eff,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors GPR155 HGNC GTPBP2 54676 genome.wustl.edu 37 6 43591721 43591721 + Silent SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 6 43591721 43591721 G A SNP GTPBP2 ENST00000307126 human ensembl 70_37 -1 known silent c.1185 p.L395 0.961 NULL pfam_EF_GTP-bd_dom,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel - no_errors GTPBP2 HGNC H2AFX 3014 genome.wustl.edu 37 11 118965703 118965703 + Missense_Mutation SNP C C G TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 11 118965703 118965703 C G SNP H2AFX ENST00000375167 human ensembl 70_37 -1 known missense c.402 p.K134N 1.000 NULL pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors H2AFX HGNC H2BFWT 158983 genome.wustl.edu 37 X 103268225 103268225 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b X 103268225 103268225 C T SNP H2BFWT ENST00000217926 human ensembl 70_37 -1 known missense c.8 p.R3H 0.000 NULL pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors H2BFWT HGNC HERC2 8924 genome.wustl.edu 37 15 28515957 28515957 + Missense_Mutation SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 15 28515957 28515957 G C SNP HERC2 ENST00000261609 human ensembl 70_37 -1 known missense c.1141 p.Q381E 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC HHIPL2 79802 genome.wustl.edu 37 1 222712018 222712018 + Silent SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 222712018 222712018 G A SNP HHIPL2 ENST00000343410 human ensembl 70_37 -1 known silent c.1549 p.L517 1.000 pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like - no_errors HHIPL2 HGNC HOXA4 3201 genome.wustl.edu 37 7 27169043 27169043 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 7 27169043 27169043 G A SNP HOXA4 ENST00000360046 human ensembl 70_37 -1 known missense c.764 p.S255F 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA4 HGNC HOXA4 3201 genome.wustl.edu 37 7 27170293 27170293 + Silent SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 7 27170293 27170293 G A SNP HOXA4 ENST00000360046 human ensembl 70_37 -1 known silent c.60 p.F20 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA4 HGNC IL18RAP 8807 genome.wustl.edu 37 2 103040354 103040354 + Nonsense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 2 103040354 103040354 C T SNP IL18RAP ENST00000264260 human ensembl 70_37 +1 known nonsense c.154 p.Q52* 0.001 NULL pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1 - no_errors IL18RAP HGNC ISL1 3670 genome.wustl.edu 37 5 50685569 50685569 + Missense_Mutation SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 5 50685569 50685569 G C SNP ISL1 ENST00000230658 human ensembl 70_37 +1 known missense c.568 p.E190Q 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors ISL1 HGNC ITIH5 80760 genome.wustl.edu 37 10 7621922 7621922 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 10 7621922 7621922 G A SNP ITIH5 ENST00000256861 human ensembl 70_37 -1 known missense c.1214 p.T405M 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC KCNH5 27133 genome.wustl.edu 37 14 63473102 63473102 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 14 63473102 63473102 G A SNP KCNH5 ENST00000322893 human ensembl 70_37 -1 known missense c.286 p.L96F 1.000 pfam_PAS_fold,smart_PAC,pfscan_PAS-assoc_C,tigrfam_PAS pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC KCNH7 90134 genome.wustl.edu 37 2 163694971 163694971 + Silent SNP G G T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 2 163694971 163694971 G T SNP KCNH7 ENST00000332142 human ensembl 70_37 -1 known silent c.58 p.R20 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC KIF17 57576 genome.wustl.edu 37 1 20998569 20998569 + Nonsense_Mutation SNP C C A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 20998569 20998569 C A SNP KIF17 ENST00000247986 human ensembl 70_37 -1 known nonsense c.2584 p.E862* 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF17 HGNC KRT2 3849 genome.wustl.edu 37 12 53038879 53038879 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 12 53038879 53038879 C T SNP KRT2 ENST00000309680 human ensembl 70_37 -1 known missense c.1844 p.G615E 1.000 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT2 HGNC LINGO1 84894 genome.wustl.edu 37 15 77906661 77906661 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 15 77906661 77906661 C T SNP LINGO1 ENST00000355300 human ensembl 70_37 -1 known missense c.1588 p.A530T 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LINGO1 HGNC LRRC40 55631 genome.wustl.edu 37 1 70625092 70625092 + Missense_Mutation SNP T T C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 70625092 70625092 T C SNP LRRC40 ENST00000370952 human ensembl 70_37 -1 known missense c.1141 p.T381A 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC40 HGNC LTK 4058 genome.wustl.edu 37 15 41797683 41797683 + Silent SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 15 41797683 41797683 G A SNP LTK ENST00000263800 human ensembl 70_37 -1 known silent c.1743 p.L581 0.097 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LTK HGNC MAGEC3 139081 genome.wustl.edu 37 X 140969327 140969327 + Nonsense_Mutation SNP C C A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b X 140969327 140969327 C A SNP MAGEC3 ENST00000298296 human ensembl 70_37 +1 known nonsense c.654 p.Y218* 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC MATN1 4146 genome.wustl.edu 37 1 31189126 31189126 + Silent SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 31189126 31189126 G A SNP MATN1 ENST00000373765 human ensembl 70_37 -1 known silent c.837 p.L279 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_VWF_A - no_errors MATN1 HGNC MCF2 4168 genome.wustl.edu 37 X 138728984 138728984 + Missense_Mutation SNP A A G TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b X 138728984 138728984 A G SNP MCF2 ENST00000370578 human ensembl 70_37 -1 known missense c.359 p.I120T 0.235 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2 HGNC MDM1 56890 genome.wustl.edu 37 12 68709007 68709007 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 12 68709007 68709007 G A SNP MDM1 ENST00000303145 human ensembl 70_37 -1 known missense c.1220 p.S407F 0.010 NULL NULL - no_errors MDM1 HGNC MDS2 259283 genome.wustl.edu 37 1 23953539 23953542 + RNA DEL GAGA GAGA - TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 GAGA GAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 23953539 23953542 GAGA - DEL MDS2 ENST00000477916 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.001:0.000:0.000 - - - no_errors MDS2 HGNC MED12 9968 genome.wustl.edu 37 X 70348264 70348264 + Missense_Mutation SNP T T C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b X 70348264 70348264 T C SNP MED12 ENST00000333646 human ensembl 70_37 +1 known missense c.3328 p.F1110L 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC MIR190B 100126346 genome.wustl.edu 37 1 154166153 154166153 + RNA SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 154166153 154166153 G C SNP MIR190B ENST00000401119 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR190B HGNC MIR4485 100616263 genome.wustl.edu 37 MT 2690 2690 + RNA SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b MT 2690 2690 G A SNP MIR4485 ENST00000387347 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors MIR4485 HGNC MRVI1 10335 genome.wustl.edu 37 11 10622540 10622540 + Missense_Mutation SNP C C G TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 11 10622540 10622540 C G SNP MRVI1 ENST00000421747 human ensembl 70_37 -1 known missense c.1915 p.E639Q 1.000 pfam_MRVI1 pfam_MRVI1 - no_errors MRVI1 HGNC NABP2 79035 genome.wustl.edu 37 12 56618691 56618691 + Silent SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 12 56618691 56618691 G A SNP NABP2 ENST00000267023 human ensembl 70_37 +1 known silent c.51 p.L17 1.000 superfamily_NA-bd_OB-fold-like pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like - no_errors NABP2 HGNC NDUFS4 4724 genome.wustl.edu 37 5 52979020 52979020 + Missense_Mutation SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 5 52979020 52979020 G C SNP NDUFS4 ENST00000296684 human ensembl 70_37 +1 known missense c.497 p.W166S 1.000 pfam_NADH_UbQ_FeS_4_mit pfam_NADH_UbQ_FeS_4_mit - no_errors NDUFS4 HGNC NHP2L1 4809 genome.wustl.edu 37 22 42071172 42071172 + Missense_Mutation SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 22 42071172 42071172 G C SNP NHP2L1 ENST00000215956 human ensembl 70_37 -1 known missense c.152 p.S51C 1.000 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,pfam_RNase_P_Pop3,prints_Ribosomal_L7Ae_prok pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,pfam_RNase_P_Pop3,prints_H/ACA_rnp_Nhp2_euk,prints_Ribosomal_L7Ae/L8/Nhp2,prints_Ribosomal_L7Ae_prok - no_errors NHP2L1 HGNC NRP2 8828 genome.wustl.edu 37 2 206630245 206630245 + Silent SNP C C A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 2 206630245 206630245 C A SNP NRP2 ENST00000360409 human ensembl 70_37 +1 known silent c.2355 p.A785 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pirsf_Neuropilin,pfscan_MAM_dom,prints_MAM_dom pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB,superfamily_ConA-like_lec_gl_sf,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,pirsf_Neuropilin,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom,prints_MAM_dom - no_errors NRP2 HGNC NTMT1 28989 genome.wustl.edu 37 9 132397623 132397623 + Silent SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 9 132397623 132397623 C T SNP NTMT1 ENST00000372480 human ensembl 70_37 +1 known silent c.552 p.C184 1.000 pfam_DUF858_MeTrfase_lik,pirsf_DUF858_MeTrfase_lik pfam_DUF858_MeTrfase_lik,pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_O_MeTrfase_2,pirsf_DUF858_MeTrfase_lik - no_errors NTMT1 HGNC OR2T6 254879 genome.wustl.edu 37 1 248550938 248550938 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 248550938 248550938 G A SNP OR2T6 ENST00000355728 human ensembl 70_37 +1 known missense c.29 p.R10K 0.008 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T6 HGNC PCDHB15 56121 genome.wustl.edu 37 5 140627400 140627400 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 5 140627400 140627400 G A SNP PCDHB15 ENST00000231173 human ensembl 70_37 +1 known missense c.2254 p.E752K 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB15 HGNC PHC2 1912 genome.wustl.edu 37 1 33794581 33794581 + Missense_Mutation SNP A A C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 33794581 33794581 A C SNP PHC2 ENST00000419414 human ensembl 70_37 -1 known missense c.2315 p.L772R 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC2 HGNC PHF11 51131 genome.wustl.edu 37 13 50097352 50097352 + Silent SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 13 50097352 50097352 G A SNP PHF11 ENST00000378319 human ensembl 70_37 +1 known silent c.612 p.V204 0.000 NULL superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF11 HGNC PHIP 55023 genome.wustl.edu 37 6 79650622 79650622 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 6 79650622 79650622 C T SNP PHIP ENST00000275034 human ensembl 70_37 -1 known missense c.5254 p.E1752K 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC PRELP 5549 genome.wustl.edu 37 1 203453017 203453017 + Missense_Mutation SNP G G T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 203453017 203453017 G T SNP PRELP ENST00000343110 human ensembl 70_37 +1 known missense c.705 p.K235N 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors PRELP HGNC PTPRN2 5799 genome.wustl.edu 37 7 157985024 157985024 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 7 157985024 157985024 C T SNP PTPRN2 ENST00000404321 human ensembl 70_37 -1 known missense c.613 p.A205T 0.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC R3HDM2 22864 genome.wustl.edu 37 12 57677635 57677635 + Silent SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 12 57677635 57677635 G A SNP R3HDM2 ENST00000347140 human ensembl 70_37 -1 known silent c.1101 p.G367 0.772 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM2 HGNC RBM5 10181 genome.wustl.edu 37 3 50141706 50141706 + Missense_Mutation SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 3 50141706 50141706 G C SNP RBM5 ENST00000347869 human ensembl 70_37 +1 known missense c.593 p.R198T 1.000 pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 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 REG4 83998 genome.wustl.edu 37 1 120342438 120342438 + Silent SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 120342438 120342438 C T SNP REG4 ENST00000256585 human ensembl 70_37 -1 known silent c.213 p.L71 0.002 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors REG4 HGNC RNF220 55182 genome.wustl.edu 37 1 45115398 45115398 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 45115398 45115398 G A SNP RNF220 ENST00000355387 human ensembl 70_37 +1 known missense c.1511 p.R504Q 1.000 superfamily_Peptidase_M20_dimer superfamily_Peptidase_M20_dimer,pfscan_Znf_RING - no_errors RNF220 HGNC RRN3P1 730092 genome.wustl.edu 37 16 21817457 21817457 + RNA SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 16 21817457 21817457 G A SNP RRN3P1 ENST00000546471 human ensembl 70_37 -1 known rna NULL NULL 0.981 - - - no_errors RRN3P1 HGNC RUFY3 22902 genome.wustl.edu 37 4 71588332 71588332 + Silent SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 4 71588332 71588332 C T SNP RUFY3 ENST00000226328 human ensembl 70_37 +1 known silent c.42 p.T14 1.000 NULL pfam_Run,superfamily_Prefoldin,smart_Run,pfscan_Run - no_errors RUFY3 HGNC SEMA5A 9037 genome.wustl.edu 37 5 9119177 9119177 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 5 9119177 9119177 G A SNP SEMA5A ENST00000382496 human ensembl 70_37 -1 known missense c.1858 p.R620C 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC SETD2 29072 genome.wustl.edu 37 3 47098367 47098367 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 3 47098367 47098367 G A SNP SETD2 ENST00000409792 human ensembl 70_37 -1 known missense c.6907 p.P2303S 1.000 NULL pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RNR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP - no_errors SETD2 HGNC SH3GL1 6455 genome.wustl.edu 37 19 4362616 4362616 + Missense_Mutation SNP C C G TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 19 4362616 4362616 C G SNP SH3GL1 ENST00000269886 human ensembl 70_37 -1 known missense c.846 p.K282N 0.447 NULL pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SH3GL1 HGNC SLC12A5 57468 genome.wustl.edu 37 20 44665958 44665958 + Silent SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 20 44665958 44665958 C T SNP SLC12A5 ENST00000454036 human ensembl 70_37 +1 known silent c.615 p.L205 1.000 pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC SLC25A44 9673 genome.wustl.edu 37 1 156177684 156177684 + Silent SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 156177684 156177684 C T SNP SLC25A44 ENST00000359511 human ensembl 70_37 +1 known silent c.633 p.L211 0.997 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A44 HGNC SLC27A2 11001 genome.wustl.edu 37 15 50526076 50526076 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 15 50526076 50526076 C T SNP SLC27A2 ENST00000267842 human ensembl 70_37 +1 known missense c.1567 p.R523C 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A2 HGNC SLC45A1 50651 genome.wustl.edu 37 1 8399734 8399734 + Silent SNP C C A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 8399734 8399734 C A SNP SLC45A1 ENST00000377479 human ensembl 70_37 +1 known silent c.2058 p.L686 1.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A1 HGNC SVIL 6840 genome.wustl.edu 37 10 29762860 29762860 + Silent SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 10 29762860 29762860 G C SNP SVIL ENST00000355867 human ensembl 70_37 -1 known silent c.5436 p.V1812 1.000 pfam_Gelsolin_dom,smart_Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece - no_errors SVIL HGNC TACC3 10460 genome.wustl.edu 37 4 1730122 1730122 + Silent SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 4 1730122 1730122 G C SNP TACC3 ENST00000313288 human ensembl 70_37 +1 known silent c.993 p.S331 0.000 NULL pfam_TACC - no_errors TACC3 HGNC TBL1XR1 79718 genome.wustl.edu 37 3 176769478 176769478 + Missense_Mutation SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 3 176769478 176769478 G C SNP TBL1XR1 ENST00000430069 human ensembl 70_37 -1 known missense c.241 p.L81V 0.997 NULL pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1XR1 HGNC THSD1 55901 genome.wustl.edu 37 13 52952233 52952233 + Silent SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 13 52952233 52952233 C T SNP THSD1 ENST00000258613 human ensembl 70_37 -1 known silent c.1872 p.L624 0.000 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC TMC6 11322 genome.wustl.edu 37 17 76120084 76120084 + Silent SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 17 76120084 76120084 G A SNP TMC6 ENST00000322914 human ensembl 70_37 -1 known silent c.1068 p.I356 1.000 NULL pfam_TMC - no_errors TMC6 HGNC TMC6 11322 genome.wustl.edu 37 17 76120120 76120120 + Silent SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 17 76120120 76120120 G C SNP TMC6 ENST00000322914 human ensembl 70_37 -1 known silent c.1032 p.L344 1.000 NULL pfam_TMC - no_errors TMC6 HGNC TMEM60 85025 genome.wustl.edu 37 7 77423294 77423294 + Missense_Mutation SNP C C G TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 7 77423294 77423294 C G SNP TMEM60 ENST00000257663 human ensembl 70_37 -1 known missense c.397 p.D133H 1.000 NULL pfam_TM_Fragile-X-F-assoc - no_errors TMEM60 HGNC TPRN 286262 genome.wustl.edu 37 9 140093513 140093513 + Missense_Mutation SNP C C G TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 9 140093513 140093513 C G SNP TPRN ENST00000409012 human ensembl 70_37 -1 known missense c.1651 p.E551Q 1.000 NULL NULL - no_errors TPRN HGNC TRIM46 80128 genome.wustl.edu 37 1 155154367 155154367 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 1 155154367 155154367 G A SNP TRIM46 ENST00000334634 human ensembl 70_37 +1 known missense c.1628 p.R543Q 0.994 pfscan_B30.2/SPRY pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM46 HGNC USP53 54532 genome.wustl.edu 37 4 120192932 120192932 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 4 120192932 120192932 G A SNP USP53 ENST00000274030 human ensembl 70_37 +1 known missense c.1917 p.M639I 1.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP53 HGNC WNK1 65125 genome.wustl.edu 37 12 977921 977921 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 12 977921 977921 G A SNP WNK1 ENST00000530271 human ensembl 70_37 +1 known missense c.3284 p.G1095E 0.840 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK1 HGNC WWP2 11060 genome.wustl.edu 37 16 69874086 69874086 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 16 69874086 69874086 C T SNP WWP2 ENST00000356003 human ensembl 70_37 +1 known missense c.398 p.S133L 0.997 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP - no_errors WWP2 HGNC XKR3 150165 genome.wustl.edu 37 22 17288683 17288683 + Missense_Mutation SNP C C G TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 22 17288683 17288683 C G SNP XKR3 ENST00000331428 human ensembl 70_37 -1 known missense c.281 p.R94T 0.031 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR3 HGNC ZNF34 80778 genome.wustl.edu 37 8 145999029 145999029 + Silent SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 8 145999029 145999029 C T SNP ZNF34 ENST00000343459 human ensembl 70_37 -1 known silent c.1305 p.V435 0.000 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 ZNF34 HGNC ZNF568 374900 genome.wustl.edu 37 19 37441146 37441146 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 19 37441146 37441146 G A SNP ZNF568 ENST00000333987 human ensembl 70_37 +1 known missense c.1091 p.C364Y 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 ZNF568 HGNC ZNF592 9640 genome.wustl.edu 37 15 85326241 85326241 + Missense_Mutation SNP C C T TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4e82491-b934-4b89-a62b-7bb1a0d18c43 e6d2e514-e792-4e8a-a34c-1cc82733576b 15 85326241 85326241 C T SNP ZNF592 ENST00000299927 human ensembl 70_37 +1 known missense c.335 p.S112F 0.110 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF592 HGNC