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 A1CF 29974 genome.wustl.edu 37 10 52587925 52587925 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 10 52587925 52587925 C G SNP A1CF ENST00000282641 human ensembl 70_37 -1 known missense c.735 p.E245D 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors A1CF HGNC AAGAB 79719 genome.wustl.edu 37 15 67524189 67524189 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 15 67524189 67524189 C T SNP AAGAB ENST00000261880 human ensembl 70_37 -1 known silent c.498 p.L166 0.995 pfam_Alpha/Gamma-adaptin-bd_p34 pfam_Alpha/Gamma-adaptin-bd_p34 - no_errors AAGAB HGNC ABCA1 19 genome.wustl.edu 37 9 107549160 107549160 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 9 107549160 107549160 G A SNP ABCA1 ENST00000374736 human ensembl 70_37 -1 known missense c.6302 p.S2101F 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ABCC11 85320 genome.wustl.edu 37 16 48244925 48244925 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 16 48244925 48244925 G A SNP ABCC11 ENST00000356608 human ensembl 70_37 -1 known silent c.1542 p.L514 0.000 superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC11 HGNC ACLY 47 genome.wustl.edu 37 17 40025361 40025361 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 17 40025361 40025361 C T SNP ACLY ENST00000352035 human ensembl 70_37 -1 known silent c.3069 p.L1023 1.000 pfam_Citrate_synthase-like,superfamily_Citrate_synthase-like_core,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 ACSS1 84532 genome.wustl.edu 37 20 25038481 25038481 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 20 25038481 25038481 G A SNP ACSS1 ENST00000323482 human ensembl 70_37 -1 known silent c.258 p.P86 0.807 pfam_Acyl-CoA_synth_DUF3448,tigrfam_Ac_CoA_lig pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Ac_CoA_lig - no_errors ACSS1 HGNC AHNAK2 113146 genome.wustl.edu 37 14 105421849 105421849 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 14 105421849 105421849 G A SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known missense c.437 p.S146L 0.991 superfamily_PDZ,smart_PDZ,pfscan_PDZ superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC AMBP 259 genome.wustl.edu 37 9 116823271 116823271 + Nonsense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 9 116823271 116823271 G A SNP AMBP ENST00000265132 human ensembl 70_37 -1 known nonsense c.961 p.Q321* 0.989 pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m pfam_Prot_inh_Kunz-m,pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_A1-microglobln,prints_PstgldnD_synth,prints_Prot_inh_Kunz-m,prints_Lipocalin - no_errors AMBP HGNC AMFR 267 genome.wustl.edu 37 16 56396402 56396402 + RNA SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 16 56396402 56396402 G A SNP AMFR ENST00000492830 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AMFR HGNC AMZ2P1 201283 genome.wustl.edu 37 17 62968902 62968902 + RNA SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 17 62968902 62968902 C G SNP AMZ2P1 ENST00000397713 human ensembl 70_37 -1 known rna NULL NULL 0.218 - - - no_errors AMZ2P1 HGNC ANP32D 23519 genome.wustl.edu 37 12 48866842 48866842 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 12 48866842 48866842 G A SNP ANP32D ENST00000266594 human ensembl 70_37 +1 known silent c.395 p.*132 1.000 NULL NULL - no_errors ANP32D HGNC AP1M2 10053 genome.wustl.edu 37 19 10692201 10692201 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 10692201 10692201 C T SNP AP1M2 ENST00000590923 human ensembl 70_37 -1 known missense c.508 p.E170K 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP1M2 HGNC APBB1IP 54518 genome.wustl.edu 37 10 26802469 26802469 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 10 26802469 26802469 G A SNP APBB1IP ENST00000376236 human ensembl 70_37 +1 known silent c.693 p.E231 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc - no_errors APBB1IP HGNC AQP10 89872 genome.wustl.edu 37 1 154296432 154296432 + RNA SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 154296432 154296432 C T SNP AQP10 ENST00000355197 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AQP10 HGNC ARHGEF4 50649 genome.wustl.edu 37 2 131798817 131798817 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 2 131798817 131798817 G A SNP ARHGEF4 ENST00000326016 human ensembl 70_37 +1 known silent c.1119 p.Q373 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF4 HGNC ARHGEF6 9459 genome.wustl.edu 37 X 135763011 135763011 + Missense_Mutation SNP A A G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 X 135763011 135763011 A G SNP ARHGEF6 ENST00000250617 human ensembl 70_37 -1 known missense c.1583 p.V528A 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin - no_errors ARHGEF6 HGNC ASIC1 41 genome.wustl.edu 37 12 50474444 50474444 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 12 50474444 50474444 G C SNP ASIC1 ENST00000228468 human ensembl 70_37 +1 known missense c.1369 p.G457R 0.001 pfam_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC1 HGNC ATAD2 29028 genome.wustl.edu 37 8 124384892 124384893 + Frame_Shift_Ins INS - - T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 8 124384892 124384893 - T INS ATAD2 ENST00000287394 human ensembl 70_37 -1 known frame_shift_ins c.355_354 p.E118fs 1.000:0.995 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ATOH1 474 genome.wustl.edu 37 4 94750328 94750328 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 4 94750328 94750328 C T SNP ATOH1 ENST00000306011 human ensembl 70_37 +1 known missense c.251 p.S84F 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors ATOH1 HGNC ATP1A4 480 genome.wustl.edu 37 1 160156477 160156477 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 160156477 160156477 G A SNP ATP1A4 ENST00000368081 human ensembl 70_37 +1 known silent c.3078 p.E1026 1.000 tigrfam_ATPase_P-typ_cation-ex_asu_euk pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A4 HGNC BANP 54971 genome.wustl.edu 37 16 88037938 88037938 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 16 88037938 88037938 C T SNP BANP ENST00000286122 human ensembl 70_37 +1 known missense c.376 p.R126W 0.999 NULL pfam_BEN_domain - no_errors BANP HGNC BDNF 627 genome.wustl.edu 37 11 27678712 27678712 + RNA SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 11 27678712 27678712 C G SNP BDNF ENST00000584049 human ensembl 70_37 -1 known rna NULL NULL 0.990 - - - no_errors BDNF HGNC BEGAIN 57596 genome.wustl.edu 37 14 101005410 101005410 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 14 101005410 101005410 G A SNP BEGAIN ENST00000355173 human ensembl 70_37 -1 known silent c.678 p.I226 1.000 NULL superfamily_Prefoldin - no_errors BEGAIN HGNC BLMH 642 genome.wustl.edu 37 17 28614948 28614948 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 17 28614948 28614948 G A SNP BLMH ENST00000261714 human ensembl 70_37 -1 known silent c.339 p.F113 1.000 pfam_Peptidase_C1B,pirsf_Peptidase_C1B pfam_Peptidase_C1B,pirsf_Peptidase_C1B - no_errors BLMH HGNC C17orf80 55028 genome.wustl.edu 37 17 71243444 71243444 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 17 71243444 71243444 G A SNP C17orf80 ENST00000359042 human ensembl 70_37 +1 known silent c.1794 p.T598 0.000 NULL NULL - no_errors C17orf80 HGNC C1orf172 126695 genome.wustl.edu 37 1 27278001 27278001 + Nonsense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 27278001 27278001 G A SNP C1orf172 ENST00000320567 human ensembl 70_37 -1 known nonsense c.871 p.Q291* 1.000 NULL NULL - no_errors C1orf172 HGNC C1orf172 126695 genome.wustl.edu 37 1 27278443 27278443 + Silent SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 27278443 27278443 G C SNP C1orf172 ENST00000320567 human ensembl 70_37 -1 known silent c.429 p.P143 0.427 NULL NULL - no_errors C1orf172 HGNC C4orf21 55345 genome.wustl.edu 37 4 113538800 113538800 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 4 113538800 113538800 C G SNP C4orf21 ENST00000505019 human ensembl 70_37 -1 known missense c.2398 p.E800Q 0.004 NULL pfam_DUF2439,pfam_Znf_GRF - no_errors C4orf21 HGNC C4orf47 441054 genome.wustl.edu 37 4 186357251 186357251 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 4 186357251 186357251 C T SNP C4orf47 ENST00000378850 human ensembl 70_37 +1 known silent c.372 p.F124 1.000 NULL NULL - no_errors C4orf47 HGNC C7orf26 79034 genome.wustl.edu 37 7 6639837 6639837 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 7 6639837 6639837 G A SNP C7orf26 ENST00000344417 human ensembl 70_37 +1 known missense c.958 p.D320N 1.000 NULL NULL - no_errors C7orf26 HGNC CCDC180 100499483 genome.wustl.edu 37 9 100080841 100080841 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 9 100080841 100080841 G A SNP C9orf174 ENST00000375202 human ensembl 70_37 +1 known silent c.1188 p.R396 0.163 NULL NULL - no_errors C9orf174 HGNC CCDC180 100499483 genome.wustl.edu 37 9 100086218 100086218 + Silent SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 9 100086218 100086218 G C SNP C9orf174 ENST00000395220 human ensembl 70_37 +1 known silent c.1833 p.L611 0.000 NULL NULL - no_errors C9orf174 HGNC CA13 377677 genome.wustl.edu 37 8 86158063 86158063 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 8 86158063 86158063 G A SNP CA13 ENST00000321764 human ensembl 70_37 +1 known silent c.6 p.S2 0.476 NULL pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA13 HGNC CA5BP1 340591 genome.wustl.edu 37 X 15706849 15706849 + RNA SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 X 15706849 15706849 C T SNP CA5BP1 ENST00000380331 human ensembl 70_37 +1 known rna NULL NULL 0.963 - - - no_errors CA5BP1 HGNC CAST 831 genome.wustl.edu 37 5 96066545 96066545 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 5 96066545 96066545 C T SNP CAST ENST00000395813 human ensembl 70_37 +1 known missense c.611 p.S204F 0.001 NULL pfam_Prot_inh_calpain - no_errors CAST HGNC CBWD2 150472 genome.wustl.edu 37 2 114210748 114210748 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 2 114210748 114210748 G C SNP CBWD2 ENST00000259199 human ensembl 70_37 +1 known missense c.463 p.E155Q 1.000 pfam_CobW/HypB/UreG_dom pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C - no_errors CBWD2 HGNC CCDC24 149473 genome.wustl.edu 37 1 44461379 44461379 + RNA SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 44461379 44461379 C T SNP CCDC24 ENST00000463846 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CCDC24 HGNC CD74 972 genome.wustl.edu 37 5 149784289 149784289 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 5 149784289 149784289 C G SNP CD74 ENST00000009530 human ensembl 70_37 -1 known missense c.579 p.M193I 1.000 pfam_MHC_II-assoc_invariant_trimer,superfamily_MHC_II-assoc_invariant_trimer,superfamily_Thyroglobulin_1,pirsf_MHC_II-assoc_invar_chain,prints_MHC_II-assoc_invar_chain pfam_MHC_II-assoc_invar/CLIP_MHC-bd,pfam_MHC_II-assoc_invariant_trimer,pfam_Thyroglobulin_1,superfamily_MHC_II-assoc_invariant_trimer,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_MHC_II-assoc_invar_chain,pfscan_Thyroglobulin_1,prints_MHC_II-assoc_invar_chain - no_errors CD74 HGNC CDAN1 146059 genome.wustl.edu 37 15 43028186 43028186 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 15 43028186 43028186 G A SNP CDAN1 ENST00000356231 human ensembl 70_37 -1 known silent c.660 p.I220 1.000 NULL NULL - no_errors CDAN1 HGNC CDK7 1022 genome.wustl.edu 37 5 68530841 68530841 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 5 68530841 68530841 G A SNP CDK7 ENST00000256443 human ensembl 70_37 +1 known silent c.39 p.E13 1.000 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_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 CDK7 HGNC CEP128 145508 genome.wustl.edu 37 14 80971268 80971268 + Missense_Mutation SNP A A C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 14 80971268 80971268 A C SNP CEP128 ENST00000281129 human ensembl 70_37 -1 known missense c.3168 p.F1056L 1.000 NULL NULL - no_errors CEP128 HGNC CEP57 9702 genome.wustl.edu 37 11 95546186 95546186 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 11 95546186 95546186 C G SNP CEP57 ENST00000325542 human ensembl 70_37 +1 known missense c.293 p.S98C 1.000 NULL pfam_Cep57_MT-bd_dom - no_errors CEP57 HGNC CES3 23491 genome.wustl.edu 37 16 67006823 67006823 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 16 67006823 67006823 C G SNP CES3 ENST00000303334 human ensembl 70_37 +1 known missense c.1587 p.I529M 0.001 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES3 HGNC CLASP1 23332 genome.wustl.edu 37 2 122139867 122139867 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 2 122139867 122139867 C T SNP CLASP1 ENST00000263710 human ensembl 70_37 -1 known silent c.3408 p.A1136 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP1 HGNC CLEC4F 165530 genome.wustl.edu 37 2 71046974 71046974 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 2 71046974 71046974 G A SNP CLEC4F ENST00000272367 human ensembl 70_37 -1 known silent c.111 p.L37 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4F HGNC CMPK2 129607 genome.wustl.edu 37 2 6988805 6988805 + RNA SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 2 6988805 6988805 G C SNP CMPK2 ENST00000478738 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CMPK2 HGNC COL27A1 85301 genome.wustl.edu 37 9 116930429 116930429 + Silent SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 9 116930429 116930429 C G SNP COL27A1 ENST00000356083 human ensembl 70_37 +1 known silent c.594 p.L198 0.997 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC CPNE4 131034 genome.wustl.edu 37 3 131756537 131756537 + RNA SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 131756537 131756537 G C SNP CPNE4 ENST00000506687 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors CPNE4 HGNC CRYZ 1429 genome.wustl.edu 37 1 75175917 75175917 + Silent SNP T T A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 75175917 75175917 T A SNP CRYZ ENST00000340866 human ensembl 70_37 -1 known silent c.495 p.A165 0.942 pfam_ADH_C,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors CRYZ HGNC CSGALNACT2 55454 genome.wustl.edu 37 10 43654206 43654206 + Silent SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 10 43654206 43654206 C G SNP CSGALNACT2 ENST00000374466 human ensembl 70_37 +1 known silent c.705 p.L235 0.824 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CSGALNACT2 HGNC CSPG4P5 114817 genome.wustl.edu 37 15 84959378 84959378 + RNA SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 15 84959378 84959378 C T SNP CSPG4P5 ENST00000456932 human ensembl 70_37 -1 known rna NULL NULL 0.650 - - - no_errors CSPG4P5 HGNC CXorf27 25763 genome.wustl.edu 37 X 37850284 37850284 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 X 37850284 37850284 C T SNP CXorf27 ENST00000341016 human ensembl 70_37 +1 known silent c.192 p.I64 0.987 superfamily_Histone-fold superfamily_Histone-fold - no_errors CXorf27 HGNC CYP2A7 1549 genome.wustl.edu 37 19 41381746 41381746 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 41381746 41381746 C T SNP CYP2A7 ENST00000301146 human ensembl 70_37 -1 known missense c.1337 p.R446K 0.554 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2B-like - no_errors CYP2A7 HGNC CYSLTR1 10800 genome.wustl.edu 37 X 77528275 77528275 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 X 77528275 77528275 C T SNP CYSLTR1 ENST00000373304 human ensembl 70_37 -1 known silent c.969 p.K323 0.973 prints_CLT1_recept pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Cyst_leuk_rcpt,prints_CLT1_recept,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors CYSLTR1 HGNC DCAF13 25879 genome.wustl.edu 37 8 104452417 104452417 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 8 104452417 104452417 C G SNP DCAF13 ENST00000297579 human ensembl 70_37 +1 known missense c.1460 p.S487C 0.952 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Sof1,pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC DENND4C 55667 genome.wustl.edu 37 9 19346894 19346894 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 9 19346894 19346894 C T SNP DENND4C ENST00000380437 human ensembl 70_37 +1 known missense c.3272 p.S1091L 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC DGKA 1606 genome.wustl.edu 37 12 56333286 56333286 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 12 56333286 56333286 C G SNP DGKA ENST00000331886 human ensembl 70_37 +1 known missense c.682 p.L228V 0.993 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKA HGNC DLGAP2 9228 genome.wustl.edu 37 8 1617924 1617924 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 8 1617924 1617924 G C SNP DLGAP2 ENST00000421627 human ensembl 70_37 +1 known missense c.1936 p.E646Q 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP2 HGNC DNAH1 25981 genome.wustl.edu 37 3 52404646 52404646 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 52404646 52404646 G A SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known missense c.6412 p.E2138K 0.241 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC DNAH10 196385 genome.wustl.edu 37 12 124265759 124265759 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 12 124265759 124265759 C G SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known missense c.571 p.H191D 0.996 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC DNAH14 127602 genome.wustl.edu 37 1 225268222 225268222 + Nonsense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 225268222 225268222 C T SNP DNAH14 ENST00000430092 human ensembl 70_37 +1 known nonsense c.2908 p.Q970* 0.001 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase - no_errors DNAH14 HGNC DNAH17 8632 genome.wustl.edu 37 17 76490199 76490199 + Silent SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 17 76490199 76490199 C G SNP DNAH17 ENST00000389840 human ensembl 70_37 -1 known silent c.6285 p.L2095 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC DNHD1 144132 genome.wustl.edu 37 11 6530458 6530458 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 11 6530458 6530458 C T SNP DNHD1 ENST00000254579 human ensembl 70_37 +1 known silent c.1191 p.L397 0.395 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_t-SNARE - no_errors DNHD1 HGNC DNM2 1785 genome.wustl.edu 37 19 10886383 10886383 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 10886383 10886383 G A SNP DNM2 ENST00000314646 human ensembl 70_37 +1 known silent c.390 p.L130 1.000 pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin - no_errors DNM2 HGNC DSG4 147409 genome.wustl.edu 37 18 28956917 28956917 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 18 28956917 28956917 C G SNP DSG4 ENST00000359747 human ensembl 70_37 +1 known missense c.43 p.L15V 0.108 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG4 HGNC ECHDC2 55268 genome.wustl.edu 37 1 53387259 53387259 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 53387259 53387259 C T SNP ECHDC2 ENST00000371522 human ensembl 70_37 -1 known silent c.87 p.E29 0.997 NULL pfam_Crotonase_core - no_errors ECHDC2 HGNC EFEMP2 30008 genome.wustl.edu 37 11 65634130 65634130 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 11 65634130 65634130 G A SNP EFEMP2 ENST00000528176 human ensembl 70_37 -1 putative silent c.1224 p.V408 0.000 NULL pfam_EGF-like_Ca-bd,superfamily_TIL_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors EFEMP2 HGNC EIF2B3 8891 genome.wustl.edu 37 1 45347294 45347294 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 45347294 45347294 C T SNP EIF2B3 ENST00000360403 human ensembl 70_37 -1 known silent c.774 p.L258 0.180 NULL pfam_NTP_transferase - no_errors EIF2B3 HGNC EIF5AL1 143244 genome.wustl.edu 37 10 81272687 81272687 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 10 81272687 81272687 C G SNP EIF5AL1 ENST00000520547 human ensembl 70_37 +1 known missense c.282 p.I94M 0.996 pfam_Transl_elong_IF5A_C,superfamily_NA-bd_OB-fold-like,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A pfam_Transl_elong_IF5A_C,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold-like,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A - no_errors EIF5AL1 HGNC ELMO1 9844 genome.wustl.edu 37 7 36917698 36917698 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 7 36917698 36917698 G A SNP ELMO1 ENST00000310758 human ensembl 70_37 -1 known missense c.1739 p.S580L 1.000 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENAH 55740 genome.wustl.edu 37 1 225699552 225699552 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 225699552 225699552 C T SNP ENAH ENST00000366844 human ensembl 70_37 -1 known missense c.1432 p.E478K 1.000 NULL pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1 - no_errors ENAH HGNC ENO4 387712 genome.wustl.edu 37 10 118630744 118630744 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 10 118630744 118630744 G C SNP ENO4 ENST00000341276 human ensembl 70_37 +1 known missense c.1165 p.E389Q 0.964 pfam_Enolase_C pfam_Enolase_C,pfam_Enolase_N - no_errors ENO4 HGNC ENO4 387712 genome.wustl.edu 37 10 118633637 118633637 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 10 118633637 118633637 G A SNP ENO4 ENST00000341276 human ensembl 70_37 +1 known silent c.1275 p.E425 1.000 pfam_Enolase_C pfam_Enolase_C,pfam_Enolase_N - no_errors ENO4 HGNC ENO4 387712 genome.wustl.edu 37 10 118633639 118633639 + Missense_Mutation SNP T T A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 10 118633639 118633639 T A SNP ENO4 ENST00000341276 human ensembl 70_37 +1 known missense c.1277 p.M426K 1.000 pfam_Enolase_C pfam_Enolase_C,pfam_Enolase_N - no_errors ENO4 HGNC ENSG00000205745 0 genome.wustl.edu 37 7 36124283 36124283 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 7 36124283 36124283 G A SNP ENSG00000205745 ENST00000381493 human ensembl 70_37 +1 novel silent c.285 p.S95 0.000 NULL NULL - no_errors PP13004 Uniprot_genename ENSG00000205745 0 genome.wustl.edu 37 7 36124284 36124284 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 7 36124284 36124284 G C SNP ENSG00000205745 ENST00000381493 human ensembl 70_37 +1 novel missense c.286 p.E96Q 0.001 NULL NULL - no_errors PP13004 Uniprot_genename ENSG00000214347 0 genome.wustl.edu 37 19 6400122 6400122 + RNA SNP A A G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 6400122 6400122 A G SNP ENSG00000214347 ENST00000398173 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTB-180A7.8 Clone_based_vega_gene ENSG00000228157 0 genome.wustl.edu 37 17 18996549 18996549 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 17 18996549 18996549 G A SNP ENSG00000228157 ENST00000428928 human ensembl 70_37 +1 known silent c.45 p.L15 0.000 NULL NULL - no_errors AC007952.5 Clone_based_vega_gene ENSG00000233858 0 genome.wustl.edu 37 8 49503099 49503099 + RNA SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 8 49503099 49503099 G A SNP ENSG00000233858 ENST00000430626 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC026904.1 Clone_based_vega_gene ENSG00000253591 0 genome.wustl.edu 37 5 170108309 170108309 + RNA SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 5 170108309 170108309 G C SNP ENSG00000253591 ENST00000523591 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTC-265N9.1 Clone_based_vega_gene ENSG00000254873 0 genome.wustl.edu 37 11 118272366 118272366 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 11 118272366 118272366 C T SNP ENSG00000254873 ENST00000534438 human ensembl 70_37 -1 putative missense c.17 p.R6K 0.000 NULL NULL - no_errors RP11-770J1.5 Clone_based_vega_gene ENSG00000258727 0 genome.wustl.edu 37 14 24036583 24036583 + RNA SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 14 24036583 24036583 C T SNP ENSG00000258727 ENST00000555968 human ensembl 70_37 +1 known rna NULL NULL 0.012 - - - no_errors RP11-66N24.3 Clone_based_vega_gene ENSG00000259031 0 genome.wustl.edu 37 14 101006724 101006724 + RNA SNP A A T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 14 101006724 101006724 A T SNP ENSG00000259031 ENST00000553301 human ensembl 70_37 +1 known rna NULL NULL 0.087 - - - no_errors CTD-2062F14.3 Clone_based_vega_gene EPHA3 2042 genome.wustl.edu 37 3 89391038 89391038 + Nonsense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 89391038 89391038 G A SNP EPHA3 ENST00000336596 human ensembl 70_37 +1 known nonsense c.1104 p.W368* 0.978 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA3 HGNC EPM2AIP1 9852 genome.wustl.edu 37 3 37034248 37034248 + Silent SNP G G T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 37034248 37034248 G T SNP EPM2AIP1 ENST00000322716 human ensembl 70_37 -1 known silent c.321 p.L107 0.389 NULL NULL - no_errors EPM2AIP1 HGNC ERBB2IP 55914 genome.wustl.edu 37 5 65338985 65338985 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 5 65338985 65338985 G C SNP ERBB2IP ENST00000284037 human ensembl 70_37 +1 known missense c.1387 p.E463Q 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 ERMP1 79956 genome.wustl.edu 37 9 5787458 5787458 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 9 5787458 5787458 G C SNP ERMP1 ENST00000339450 human ensembl 70_37 -1 known missense c.2522 p.S841C 0.190 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors ERMP1 HGNC FAAH2 158584 genome.wustl.edu 37 X 57405214 57405214 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 X 57405214 57405214 C G SNP FAAH2 ENST00000374900 human ensembl 70_37 +1 known missense c.873 p.I291M 0.992 pfam_Amidase,superfamily_Amidase_dom pfam_Amidase,superfamily_Amidase_dom - no_errors FAAH2 HGNC FAM120B 84498 genome.wustl.edu 37 6 170627053 170627053 + Nonsense_Mutation SNP C C A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 170627053 170627053 C A SNP FAM120B ENST00000537664 human ensembl 70_37 +1 known nonsense c.644 p.S215* 1.000 NULL NULL - no_errors FAM120B HGNC FAM131C 348487 genome.wustl.edu 37 1 16384941 16384941 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 16384941 16384941 G C SNP FAM131C ENST00000375662 human ensembl 70_37 -1 known missense c.834 p.F278L 1.000 NULL superfamily_Chromodomain-like - no_errors FAM131C HGNC FAM198A 729085 genome.wustl.edu 37 3 43074493 43074493 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 43074493 43074493 G A SNP FAM198A ENST00000273146 human ensembl 70_37 +1 known silent c.738 p.T246 0.006 NULL NULL - no_errors FAM198A HGNC FBXW5 54461 genome.wustl.edu 37 9 139835782 139835782 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 9 139835782 139835782 G C SNP FBXW5 ENST00000325285 human ensembl 70_37 -1 known missense c.1378 p.L460V 1.000 superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_Quinoprot_gluc/sorb_DH,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 - no_errors FBXW5 HGNC FBXW5 54461 genome.wustl.edu 37 9 139836132 139836132 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 9 139836132 139836132 G C SNP FBXW5 ENST00000325285 human ensembl 70_37 -1 known missense c.1101 p.I367M 0.994 superfamily_Quinoprot_gluc/sorb_DH pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_Quinoprot_gluc/sorb_DH,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 - no_errors FBXW5 HGNC FER1L6 654463 genome.wustl.edu 37 8 125131950 125131950 + Silent SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 8 125131950 125131950 C G SNP FER1L6 ENST00000399018 human ensembl 70_37 +1 known silent c.5493 p.L1831 0.851 superfamily_ABC_transptrTM_dom_typ1 pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors FER1L6 HGNC FER1L6 654463 genome.wustl.edu 37 8 125131974 125131974 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 8 125131974 125131974 C T SNP FER1L6 ENST00000399018 human ensembl 70_37 +1 known silent c.5517 p.V1839 0.999 superfamily_ABC_transptrTM_dom_typ1 pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors FER1L6 HGNC FGD5P1 100132526 genome.wustl.edu 37 3 13976047 13976047 + RNA SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 13976047 13976047 G C SNP FGD5P1 ENST00000502451 human ensembl 70_37 +1 known rna NULL NULL 0.969 - - - no_errors FGD5P1 HGNC FKBP2 2286 genome.wustl.edu 37 11 64010730 64010730 + Silent SNP C C A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 11 64010730 64010730 C A SNP FKBP2 ENST00000309366 human ensembl 70_37 +1 known silent c.231 p.V77 1.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP2 HGNC FKBP6 8468 genome.wustl.edu 37 7 72754676 72754676 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 7 72754676 72754676 G A SNP FKBP6 ENST00000252037 human ensembl 70_37 +1 known missense c.625 p.E209K 0.038 NULL pfam_PPIase_FKBP_dom,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP6 HGNC FKTN 2218 genome.wustl.edu 37 9 108358965 108358965 + RNA SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 9 108358965 108358965 C T SNP FKTN ENST00000490134 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors FKTN HGNC FLT4 2324 genome.wustl.edu 37 5 180047610 180047610 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 5 180047610 180047610 C T SNP FLT4 ENST00000261937 human ensembl 70_37 -1 known missense c.2405 p.R802K 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT4 HGNC FRG1B 284802 genome.wustl.edu 37 20 29612387 29612387 + RNA SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 20 29612387 29612387 G A SNP FRG1B ENST00000482423 human ensembl 70_37 +1 known rna NULL NULL 0.013 - - - no_errors FRG1B HGNC FUT8 2530 genome.wustl.edu 37 14 66096237 66096237 + Silent SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 14 66096237 66096237 C G SNP FUT8 ENST00000360689 human ensembl 70_37 +1 known silent c.510 p.L170 1.000 pirsf_Alpha1_6FUT_euk superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk - no_errors FUT8 HGNC FUT9 10690 genome.wustl.edu 37 6 96651676 96651676 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 96651676 96651676 C G SNP FUT9 ENST00000302103 human ensembl 70_37 +1 known missense c.645 p.I215M 1.000 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT9 HGNC FZD4 8322 genome.wustl.edu 37 11 86663136 86663136 + Missense_Mutation SNP A A G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 11 86663136 86663136 A G SNP FZD4 ENST00000531380 human ensembl 70_37 -1 known missense c.662 p.I221T 0.381 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD4 HGNC GATM 2628 genome.wustl.edu 37 15 45656204 45656204 + Silent SNP G G T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 15 45656204 45656204 G T SNP GATM ENST00000396659 human ensembl 70_37 -1 known silent c.1053 p.L351 1.000 NULL NULL - no_errors GATM HGNC GCSAML 148823 genome.wustl.edu 37 1 247690334 247690334 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 247690334 247690334 C T SNP GCSAML ENST00000366490 human ensembl 70_37 +1 known missense c.77 p.S26L 0.002 NULL NULL - no_errors GCSAML HGNC GIPC2 54810 genome.wustl.edu 37 1 78560749 78560749 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 78560749 78560749 G A SNP GIPC2 ENST00000370759 human ensembl 70_37 +1 known silent c.540 p.K180 0.999 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,superfamily_Ig_E-set,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ - no_errors GIPC2 HGNC GLI3 2737 genome.wustl.edu 37 7 42088256 42088256 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 7 42088256 42088256 C T SNP GLI3 ENST00000395925 human ensembl 70_37 -1 known silent c.513 p.L171 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC GMCL1 64395 genome.wustl.edu 37 2 70088422 70088422 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 2 70088422 70088422 C T SNP GMCL1 ENST00000282570 human ensembl 70_37 +1 known missense c.1085 p.S362F 0.999 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors GMCL1 HGNC GOLGA8J 653073 genome.wustl.edu 37 15 30376977 30376977 + Missense_Mutation SNP A A C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 15 30376977 30376977 A C SNP GOLGA8J ENST00000567927 human ensembl 70_37 +1 novel missense c.52 p.K18Q 0.009 NULL NULL - no_errors GOLGA8J HGNC GOLGB1 2804 genome.wustl.edu 37 3 121409846 121409846 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 121409846 121409846 G C SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.8350 p.L2784V 0.663 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC GOLGB1 2804 genome.wustl.edu 37 3 121409951 121409951 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 121409951 121409951 G C SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.8245 p.H2749D 1.000 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC GPR115 221393 genome.wustl.edu 37 6 47681717 47681717 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 47681717 47681717 C T SNP GPR115 ENST00000371220 human ensembl 70_37 +1 known missense c.907 p.H303Y 0.132 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR115 HGNC GRAMD1B 57476 genome.wustl.edu 37 11 123476185 123476185 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 11 123476185 123476185 C T SNP GRAMD1B ENST00000322282 human ensembl 70_37 +1 known missense c.893 p.S298L 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1B HGNC GSPT2 23708 genome.wustl.edu 37 X 51488203 51488203 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 X 51488203 51488203 G C SNP GSPT2 ENST00000340438 human ensembl 70_37 +1 known missense c.1481 p.R494T 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom - no_errors GSPT2 HGNC GTF2IRD2 84163 genome.wustl.edu 37 7 74211579 74211579 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 7 74211579 74211579 C T SNP GTF2IRD2 ENST00000405086 human ensembl 70_37 -1 known missense c.2272 p.D758N 0.913 superfamily_RNaseH-like_dom pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I - no_errors GTF2IRD2 HGNC GTF2IRD2P1 401375 genome.wustl.edu 37 7 72657941 72657941 + RNA SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 7 72657941 72657941 C G SNP GTF2IRD2P1 ENST00000425256 human ensembl 70_37 -1 known rna NULL NULL 0.835 - - - no_errors GTF2IRD2P1 HGNC HCAR2 338442 genome.wustl.edu 37 12 123187570 123187570 + Nonsense_Mutation SNP A A T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 12 123187570 123187570 A T SNP HCAR2 ENST00000328880 human ensembl 70_37 -1 known nonsense c.261 p.Y87* 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2_purnocptor pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors HCAR2 HGNC HEG1 57493 genome.wustl.edu 37 3 124731854 124731854 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 124731854 124731854 G A SNP HEG1 ENST00000311127 human ensembl 70_37 -1 known missense c.2569 p.P857S 0.000 NULL pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HEG1 HGNC HHLA2 11148 genome.wustl.edu 37 3 108074109 108074109 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 108074109 108074109 C G SNP HHLA2 ENST00000357759 human ensembl 70_37 +1 known missense c.566 p.S189C 0.000 pfam_Ig_C1-set,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors HHLA2 HGNC HIST1H1B 3009 genome.wustl.edu 37 6 27835303 27835303 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 27835303 27835303 G A SNP HIST1H1B ENST00000331442 human ensembl 70_37 -1 known missense c.5 p.S2L 1.000 NULL pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1B HGNC HIST1H2AB 8335 genome.wustl.edu 37 6 26033405 26033405 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 26033405 26033405 C T SNP HIST1H2AB ENST00000259791 human ensembl 70_37 -1 known silent c.392 p.*131 0.936 NULL pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AB HGNC HIST2H2BF 440689 genome.wustl.edu 37 1 149783771 149783771 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 149783771 149783771 C G SNP HIST2H2BF ENST00000427880 human ensembl 70_37 -1 known missense c.108 p.E36D 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST2H2BF HGNC HIST2H2BF 440689 genome.wustl.edu 37 1 149783795 149783795 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 149783795 149783795 C G SNP HIST2H2BF ENST00000427880 human ensembl 70_37 -1 known missense c.84 p.K28N 1.000 superfamily_Histone-fold,smart_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST2H2BF HGNC HSBP1 3281 genome.wustl.edu 37 16 83842329 83842329 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 16 83842329 83842329 G C SNP HSBP1 ENST00000433866 human ensembl 70_37 +1 known missense c.90 p.M30I 1.000 pfam_HS1-bd pfam_HS1-bd - no_errors HSBP1 HGNC HSF4 3299 genome.wustl.edu 37 16 67200499 67200499 + Nonsense_Mutation SNP G G T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 16 67200499 67200499 G T SNP HSF4 ENST00000522295 human ensembl 70_37 +1 known nonsense c.541 p.E181* 1.000 NULL pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF4 HGNC HTT 3064 genome.wustl.edu 37 4 3213737 3213737 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 4 3213737 3213737 G A SNP HTT ENST00000355072 human ensembl 70_37 +1 known missense c.6496 p.E2166K 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC HUWE1 10075 genome.wustl.edu 37 X 53589158 53589158 + Nonsense_Mutation SNP C C A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 X 53589158 53589158 C A SNP HUWE1 ENST00000262854 human ensembl 70_37 -1 known nonsense c.7252 p.E2418* 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC IER2 9592 genome.wustl.edu 37 19 13264244 13264244 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 13264244 13264244 G C SNP IER2 ENST00000292433 human ensembl 70_37 +1 known missense c.244 p.E82Q 0.052 pfam_IER pfam_IER - no_errors IER2 HGNC IGF2R 3482 genome.wustl.edu 37 6 160431704 160431705 + RNA INS - - T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 160431704 160431705 - T INS IGF2R ENST00000464636 human ensembl 70_37 +1 known rna NULL NULL 0.002:0.002 - - - no_errors IGF2R HGNC IMPG2 50939 genome.wustl.edu 37 3 100976541 100976541 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 100976541 100976541 G A SNP IMPG2 ENST00000193391 human ensembl 70_37 -1 known missense c.985 p.H329Y 1.000 pfam_SEA,smart_SEA pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors IMPG2 HGNC INO80 54617 genome.wustl.edu 37 15 41371977 41371977 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 15 41371977 41371977 C G SNP INO80 ENST00000361937 human ensembl 70_37 -1 known missense c.1053 p.E351D 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors INO80 HGNC IQCG 84223 genome.wustl.edu 37 3 197639564 197639564 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 197639564 197639564 G A SNP IQCG ENST00000265239 human ensembl 70_37 -1 known silent c.945 p.F315 1.000 NULL pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCG HGNC IQGAP1 8826 genome.wustl.edu 37 15 91009278 91009278 + Splice_Site SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 15 91009278 91009278 G C SNP IQGAP1 ENST00000560738 human ensembl 70_37 +1 novel splice_site c.107-1 e3-1 1.000 - - - no_errors IQGAP1 HGNC ISY1 57461 genome.wustl.edu 37 3 128852970 128852970 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 128852970 128852970 C T SNP ISY1 ENST00000273541 human ensembl 70_37 -1 known missense c.676 p.E226K 1.000 pfam_Isy1 pfam_Isy1 - no_errors ISY1 HGNC ISY1 57461 genome.wustl.edu 37 3 128853782 128853782 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 128853782 128853782 C G SNP ISY1 ENST00000273541 human ensembl 70_37 -1 known missense c.500 p.R167T 1.000 pfam_Isy1 pfam_Isy1 - no_errors ISY1 HGNC ITGB5 3693 genome.wustl.edu 37 3 124567329 124567329 + Silent SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 124567329 124567329 G C SNP ITGB5 ENST00000296181 human ensembl 70_37 -1 known silent c.438 p.L146 1.000 pfam_Integrin_bsu_N,smart_Integrin_bsu_N,smart_VWF_A,pirsf_Integrin_bsu,prints_Integrin_bsu pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_VWF_A,pirsf_Integrin_bsu,prints_Integrin_bsu - no_errors ITGB5 HGNC ITPR3 3710 genome.wustl.edu 37 6 33632874 33632874 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 33632874 33632874 C T SNP ITPR3 ENST00000374316 human ensembl 70_37 +1 known silent c.1293 p.I431 0.840 pfam_MIR_motif,superfamily_MIR_motif,prints_InsP3_rcpt-bd pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ITPRIP 85450 genome.wustl.edu 37 10 106075739 106075739 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 10 106075739 106075739 G A SNP ITPRIP ENST00000278071 human ensembl 70_37 -1 known missense c.71 p.P24L 1.000 NULL NULL - no_errors ITPRIP HGNC KAT6B 23522 genome.wustl.edu 37 10 76781645 76781645 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 10 76781645 76781645 C T SNP KAT6B ENST00000287239 human ensembl 70_37 +1 known missense c.3028 p.R1010W 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC KDM2B 84678 genome.wustl.edu 37 12 121868153 121868153 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 12 121868153 121868153 C T SNP KDM2B ENST00000377071 human ensembl 70_37 -1 known missense c.3949 p.E1317K 0.993 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC KIAA1199 57214 genome.wustl.edu 37 15 81234256 81234256 + Silent SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 15 81234256 81234256 C G SNP KIAA1199 ENST00000220244 human ensembl 70_37 +1 known silent c.3474 p.G1158 1.000 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC KIAA1429 25962 genome.wustl.edu 37 8 95522724 95522724 + Missense_Mutation SNP G G T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 8 95522724 95522724 G T SNP KIAA1429 ENST00000297591 human ensembl 70_37 -1 known missense c.3547 p.Q1183K 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC KIF26B 55083 genome.wustl.edu 37 1 245851198 245851198 + Missense_Mutation SNP C C A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 245851198 245851198 C A SNP KIF26B ENST00000407071 human ensembl 70_37 +1 known missense c.4913 p.P1638Q 0.828 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC KIR2DL1 3802 genome.wustl.edu 37 19 55284986 55284986 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 55284986 55284986 C T SNP KIR2DL1 ENST00000336077 human ensembl 70_37 +1 known missense c.272 p.T91M 0.005 pfam_Immunoglobulin,smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL1 HGNC KLHDC8B 200942 genome.wustl.edu 37 3 49212502 49212502 + Nonsense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 49212502 49212502 G A SNP KLHDC8B ENST00000332780 human ensembl 70_37 +1 known nonsense c.774 p.W258* 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC8B HGNC LANCL3 347404 genome.wustl.edu 37 X 37431657 37431657 + Silent SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 X 37431657 37431657 G C SNP LANCL3 ENST00000378619 human ensembl 70_37 +1 known silent c.534 p.L178 1.000 pfam_LANC-like,prints_LANC-like pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LANC-like,prints_LanC-like_prot_euk - no_errors LANCL3 HGNC LEKR1 389170 genome.wustl.edu 37 3 156570671 156570671 + Nonsense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 156570671 156570671 C T SNP LEKR1 ENST00000356539 human ensembl 70_37 +1 known nonsense c.163 p.Q55* 1.000 NULL superfamily_Ribosomal_L29 - no_errors LEKR1 HGNC LIG3 3980 genome.wustl.edu 37 17 33318723 33318723 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 17 33318723 33318723 G A SNP LIG3 ENST00000378526 human ensembl 70_37 +1 known missense c.1075 p.E359K 1.000 pfam_DNA_ligase_ATP-dep_N,superfamily_DNA_ligase_ATP-dep_N,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG3 HGNC LMO7 4008 genome.wustl.edu 37 13 76379796 76379796 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 13 76379796 76379796 G C SNP LMO7 ENST00000357063 human ensembl 70_37 +1 known missense c.1252 p.D418H 1.000 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC LRIG2 9860 genome.wustl.edu 37 1 113657443 113657443 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 113657443 113657443 C T SNP LRIG2 ENST00000361127 human ensembl 70_37 +1 known silent c.2475 p.V825 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIG2 HGNC LRRC27 80313 genome.wustl.edu 37 10 134188813 134188813 + RNA SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 10 134188813 134188813 C T SNP LRRC27 ENST00000462656 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LRRC27 HGNC LRRC4C 57689 genome.wustl.edu 37 11 40137708 40137708 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 11 40137708 40137708 C T SNP LRRC4C ENST00000527150 human ensembl 70_37 -1 known silent c.135 p.Q45 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors LRRC4C HGNC LRRK2 120892 genome.wustl.edu 37 12 40668470 40668470 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 12 40668470 40668470 C T SNP LRRK2 ENST00000298910 human ensembl 70_37 +1 known missense c.1742 p.S581F 0.334 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC MADCAM1 8174 genome.wustl.edu 37 19 501802 501802 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 501802 501802 G C SNP MADCAM1 ENST00000215637 human ensembl 70_37 +1 known missense c.801 p.K267N 0.000 NULL pfam_Adhes-Ig-like,smart_Ig_sub,pfscan_Ig-like - no_errors MADCAM1 HGNC MAGEB16 139604 genome.wustl.edu 37 X 35820490 35820490 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 X 35820490 35820490 G C SNP MAGEB16 ENST00000399992 human ensembl 70_37 +1 known missense c.273 p.E91D 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB16 HGNC MAGI2 9863 genome.wustl.edu 37 7 77814979 77814979 + Missense_Mutation SNP G G T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 7 77814979 77814979 G T SNP MAGI2 ENST00000354212 human ensembl 70_37 -1 known missense c.2278 p.P760T 1.000 superfamily_PDZ pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI2 HGNC MAML3 55534 genome.wustl.edu 37 4 140811335 140811335 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 4 140811335 140811335 G C SNP MAML3 ENST00000509479 human ensembl 70_37 -1 known missense c.1255 p.Q419E 0.998 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC MAP3K15 389840 genome.wustl.edu 37 X 19418717 19418717 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 X 19418717 19418717 C G SNP MAP3K15 ENST00000338883 human ensembl 70_37 -1 known missense c.1909 p.E637Q 0.980 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K15 HGNC MAST3 23031 genome.wustl.edu 37 19 18257690 18257690 + Splice_Site SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 18257690 18257690 G C SNP MAST3 ENST00000262811 human ensembl 70_37 +1 known splice_site c.3076-1 e25-1 1.000 - - - no_errors MAST3 HGNC MCM10 55388 genome.wustl.edu 37 10 13234536 13234536 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 10 13234536 13234536 G C SNP MCM10 ENST00000361282 human ensembl 70_37 +1 known missense c.1716 p.M572I 0.576 pfam_Rep_factor_Mcm10 pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG - no_errors MCM10 HGNC MCMDC2 157777 genome.wustl.edu 37 8 67817467 67817467 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 8 67817467 67817467 C T SNP MCMDC2 ENST00000422365 human ensembl 70_37 +1 known silent c.1776 p.F592 0.957 pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase - no_errors MCMDC2 HGNC MDN1 23195 genome.wustl.edu 37 6 90453374 90453374 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 90453374 90453374 G C SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.4238 p.S1413C 0.972 pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC MEOX1 4222 genome.wustl.edu 37 17 41720864 41720864 + Nonsense_Mutation SNP C C A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 17 41720864 41720864 C A SNP MEOX1 ENST00000318579 human ensembl 70_37 -1 known nonsense c.634 p.E212* 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 - no_errors MEOX1 HGNC METTL7A 25840 genome.wustl.edu 37 12 51319179 51319179 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 12 51319179 51319179 G C SNP METTL7A ENST00000332160 human ensembl 70_37 +1 known missense c.358 p.E120Q 1.000 pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_SAM-MeTfrase_NodS-related pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel,pfam_SAM-MeTfrase_NodS-related - no_errors METTL7A HGNC MFSD10 10227 genome.wustl.edu 37 4 2934873 2934873 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 4 2934873 2934873 G A SNP MFSD10 ENST00000329687 human ensembl 70_37 -1 known missense c.332 p.S111F 0.927 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD10 HGNC MIOS 54468 genome.wustl.edu 37 7 7622951 7622951 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 7 7622951 7622951 G C SNP MIOS ENST00000340080 human ensembl 70_37 +1 known missense c.1596 p.L532F 1.000 NULL smart_WD40_repeat - no_errors MIOS HGNC KMT2C 58508 genome.wustl.edu 37 7 151878287 151878287 + Nonsense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 7 151878287 151878287 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.6658 p.Q2220* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC MPPED1 758 genome.wustl.edu 37 22 43821097 43821097 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 22 43821097 43821097 C T SNP MPPED1 ENST00000538182 human ensembl 70_37 +1 known missense c.205 p.R69W 0.989 NULL pfam_Metallo_PEstase_dom - no_errors MPPED1 HGNC MRPL2 51069 genome.wustl.edu 37 6 43026954 43026954 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 43026954 43026954 C G SNP MRPL2 ENST00000487429 human ensembl 70_37 -1 putative missense c.166 p.E56Q 0.000 NULL NULL - no_errors MRPL2 HGNC MT-CO1 4512 genome.wustl.edu 37 MT 6361 6361 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 MT 6361 6361 C T SNP MT-CO1 ENST00000361624 human ensembl 70_37 +1 known missense c.458 p.A153V NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC MUC12 10071 genome.wustl.edu 37 7 100642138 100642138 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 7 100642138 100642138 C T SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known missense c.8723 p.S2908L 0.000 NULL pfam_SEA - no_errors MUC12 HGNC MUC12 10071 genome.wustl.edu 37 7 100645303 100645303 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 7 100645303 100645303 C T SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known missense c.11888 p.S3963L 0.003 NULL pfam_SEA - no_errors MUC12 HGNC MUC17 140453 genome.wustl.edu 37 7 100682598 100682598 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 7 100682598 100682598 C T SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known missense c.7901 p.S2634L 0.035 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC MUC4 4585 genome.wustl.edu 37 3 195507868 195507868 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 195507868 195507868 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.10583 p.S3528L 0.008 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC4 4585 genome.wustl.edu 37 3 195511846 195511846 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 195511846 195511846 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.6605 p.S2202F 0.114 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC4 4585 genome.wustl.edu 37 3 195512066 195512066 + Missense_Mutation SNP G G T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 195512066 195512066 G T SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.6385 p.L2129I 0.097 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC4 4585 genome.wustl.edu 37 3 195512140 195512140 + Nonsense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 195512140 195512140 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known nonsense c.6311 p.S2104* 0.009 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC4 4585 genome.wustl.edu 37 3 195512284 195512284 + Nonsense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 195512284 195512284 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known nonsense c.6167 p.S2056* 0.008 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC4 4585 genome.wustl.edu 37 3 195512318 195512318 + Nonsense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 195512318 195512318 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known nonsense c.6133 p.Q2045* 0.007 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC4 4585 genome.wustl.edu 37 3 195512351 195512351 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 195512351 195512351 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.6100 p.P2034S 0.160 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC4 4585 genome.wustl.edu 37 3 195512716 195512716 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 195512716 195512716 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.5735 p.S1912L 0.349 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC4 4585 genome.wustl.edu 37 3 195513410 195513410 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 195513410 195513410 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.5041 p.L1681V 0.173 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC4 4585 genome.wustl.edu 37 3 195513580 195513580 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 195513580 195513580 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.4871 p.S1624L 0.016 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUM1 84939 genome.wustl.edu 37 19 1366351 1366351 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 1366351 1366351 C G SNP MUM1 ENST00000344663 human ensembl 70_37 +1 known missense c.1335 p.I445M 0.103 NULL pfam_PWWP - no_errors MUM1 HGNC MYH11 4629 genome.wustl.edu 37 16 15835413 15835413 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 16 15835413 15835413 C T SNP MYH11 ENST00000396324 human ensembl 70_37 -1 known silent c.2787 p.E929 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH11 HGNC MYO1F 4542 genome.wustl.edu 37 19 8595361 8595361 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 8595361 8595361 C T SNP MYO1F ENST00000338257 human ensembl 70_37 -1 known missense c.2140 p.E714K 1.000 pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC NAA15 80155 genome.wustl.edu 37 4 140309101 140309101 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 4 140309101 140309101 G A SNP NAA15 ENST00000296543 human ensembl 70_37 +1 known missense c.2464 p.E822K 1.000 NULL pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC NBEAL1 65065 genome.wustl.edu 37 2 204000415 204000415 + Nonsense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 2 204000415 204000415 C T SNP NBEAL1 ENST00000449802 human ensembl 70_37 +1 known nonsense c.3742 p.Q1248* 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC NBPF10 100132406 genome.wustl.edu 37 1 145299857 145299857 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 145299857 145299857 G A SNP NBPF10 ENST00000342960 human ensembl 70_37 +1 known silent c.906 p.K302 0.000 NULL pfam_NBPF_dom - no_errors NBPF10 HGNC NLGN1 22871 genome.wustl.edu 37 3 173322819 173322819 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 173322819 173322819 C T SNP NLGN1 ENST00000401917 human ensembl 70_37 +1 known missense c.431 p.S144L 0.968 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC NOTCH4 4855 genome.wustl.edu 37 6 32170026 32170026 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 32170026 32170026 C T SNP NOTCH4 ENST00000375023 human ensembl 70_37 -1 known silent c.3582 p.P1194 0.296 pfam_Notch_dom,superfamily_Notch_dom,smart_Notch_dom,pirsf_Notch,pfscan_Notch_dom,prints_Notch_dom pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom - no_errors NOTCH4 HGNC NOTCH4 4855 genome.wustl.edu 37 6 32183067 32183067 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 32183067 32183067 C T SNP NOTCH4 ENST00000375023 human ensembl 70_37 -1 known missense c.1957 p.D653N 0.186 smart_EG-like_dom,pirsf_Notch pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom - no_errors NOTCH4 HGNC NPAS3 64067 genome.wustl.edu 37 14 34270072 34270072 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 14 34270072 34270072 C T SNP NPAS3 ENST00000356141 human ensembl 70_37 +1 known silent c.2559 p.F853 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pfscan_PAS,pfscan_HLH_dom - no_errors NPAS3 HGNC NR4A1 3164 genome.wustl.edu 37 12 52435661 52435661 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 12 52435661 52435661 G A SNP NR4A1 ENST00000545748 human ensembl 70_37 +1 known silent c.108 p.L36 0.134 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Nuc_orp_HMR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR4A1 HGNC NT5DC2 64943 genome.wustl.edu 37 3 52563276 52563276 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 52563276 52563276 C T SNP NT5DC2 ENST00000422318 human ensembl 70_37 -1 known missense c.307 p.D103N 0.593 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5DC2 HGNC NUFIP2 57532 genome.wustl.edu 37 17 27614309 27614309 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 17 27614309 27614309 C G SNP NUFIP2 ENST00000225388 human ensembl 70_37 -1 known missense c.703 p.E235Q 1.000 NULL NULL - no_errors NUFIP2 HGNC NYNRIN 57523 genome.wustl.edu 37 14 24877477 24877477 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 14 24877477 24877477 G C SNP NYNRIN ENST00000382554 human ensembl 70_37 +1 known missense c.601 p.D201H 0.990 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC OR5H2 79310 genome.wustl.edu 37 3 98002360 98002360 + Nonsense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 98002360 98002360 C G SNP OR5H2 ENST00000355273 human ensembl 70_37 +1 known nonsense c.629 p.S210* 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H2 HGNC OR6K3 391114 genome.wustl.edu 37 1 158686965 158686965 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 158686965 158686965 C T SNP OR6K3 ENST00000368146 human ensembl 70_37 -1 known missense c.989 p.G330E 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K3 HGNC OSCP1 127700 genome.wustl.edu 37 1 36883706 36883706 + RNA SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 36883706 36883706 C T SNP OSCP1 ENST00000471369 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors OSCP1 HGNC OTUB1 55611 genome.wustl.edu 37 11 63756108 63756108 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 11 63756108 63756108 G C SNP OTUB1 ENST00000543004 human ensembl 70_37 +1 known missense c.130 p.D44H 0.005 pirsf_Ubiquitin_thioesterase_Otubain pfam_Peptidase_C65_otubain,pfam_OTU,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU - no_errors OTUB1 HGNC PDE6B 5158 genome.wustl.edu 37 4 657657 657657 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 4 657657 657657 C T SNP PDE6B ENST00000496514 human ensembl 70_37 +1 known silent c.2019 p.F673 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC PHF20 51230 genome.wustl.edu 37 20 34435287 34435287 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 20 34435287 34435287 G C SNP PHF20 ENST00000374012 human ensembl 70_37 +1 known missense c.271 p.E91Q 1.000 smart_Tudor pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_C2H2 - no_errors PHF20 HGNC PHTF1 10745 genome.wustl.edu 37 1 114254566 114254566 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 114254566 114254566 G C SNP PHTF1 ENST00000369604 human ensembl 70_37 -1 known missense c.953 p.S318C 0.986 NULL pfam_TF_homeodomain_male - no_errors PHTF1 HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC PKD2 5311 genome.wustl.edu 37 4 88959628 88959628 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 4 88959628 88959628 C T SNP PKD2 ENST00000237596 human ensembl 70_37 +1 known missense c.1069 p.P357S 0.999 pfam_PKD1_2_channel pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_HAND_2,prints_PKD_2,prints_PKD_1 - no_errors PKD2 HGNC PKD2 5311 genome.wustl.edu 37 4 88986631 88986631 + Nonsense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 4 88986631 88986631 C T SNP PKD2 ENST00000237596 human ensembl 70_37 +1 known nonsense c.2224 p.R742* 1.000 NULL pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_HAND_2,prints_PKD_2,prints_PKD_1 - no_errors PKD2 HGNC PLS1 5357 genome.wustl.edu 37 3 142423314 142423314 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 142423314 142423314 G C SNP PLS1 ENST00000337777 human ensembl 70_37 +1 known missense c.1515 p.L505F 1.000 superfamily_CH-domain pfam_CH-domain,pfam_EF-hand,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors PLS1 HGNC PODXL 5420 genome.wustl.edu 37 7 131195681 131195681 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 7 131195681 131195681 C T SNP PODXL ENST00000541194 human ensembl 70_37 -1 known silent c.618 p.S206 0.000 pirsf_Podocalyxin-like_p1 pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1 - no_errors PODXL HGNC POTEH 23784 genome.wustl.edu 37 22 16287382 16287382 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 22 16287382 16287382 C T SNP POTEH ENST00000343518 human ensembl 70_37 -1 known silent c.504 p.P168 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEH HGNC PPAN-P2RY11 692312 genome.wustl.edu 37 19 10220911 10220911 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 10220911 10220911 C T SNP PPAN-P2RY11 ENST00000393796 human ensembl 70_37 +1 known missense c.811 p.R271W 1.000 pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix pfam_Brix,pfam_GPCR_Rhodpsn,superfamily_Anticodon-bd,smart_Brix,prints_P2_purnocptor,prints_GPCR_Rhodpsn,pfscan_Brix,pfscan_GPCR_Rhodpsn_7TM - no_errors PPAN-P2RY11 HGNC PPM1D 8493 genome.wustl.edu 37 17 58740432 58740432 + Nonsense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 17 58740432 58740432 C G SNP PPM1D ENST00000305921 human ensembl 70_37 +1 known nonsense c.1337 p.S446* 1.000 NULL pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1D HGNC PPOX 5498 genome.wustl.edu 37 1 161140467 161140467 + Nonsense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 161140467 161140467 C T SNP PPOX ENST00000352210 human ensembl 70_37 +1 known nonsense c.1156 p.Q386* 0.230 pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase - no_errors PPOX HGNC PPP2R2B 5521 genome.wustl.edu 37 5 145969475 145969475 + RNA SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 5 145969475 145969475 C T SNP PPP2R2B ENST00000530902 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PPP2R2B HGNC PRDM9 56979 genome.wustl.edu 37 5 23509646 23509646 + Nonsense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 5 23509646 23509646 G A SNP PRDM9 ENST00000296682 human ensembl 70_37 +1 known nonsense c.137 p.W46* 0.993 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 PSG10P 653492 genome.wustl.edu 37 19 43358124 43358124 + RNA SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 43358124 43358124 C T SNP PSG10P ENST00000597171 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors PSG10P HGNC PSMB6 5694 genome.wustl.edu 37 17 4700801 4700801 + Nonsense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 17 4700801 4700801 C G SNP PSMB6 ENST00000270586 human ensembl 70_37 +1 known nonsense c.239 p.S80* 0.998 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB6 HGNC PTCHD2 57540 genome.wustl.edu 37 1 11579839 11579839 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 11579839 11579839 C T SNP PTCHD2 ENST00000294484 human ensembl 70_37 +1 known missense c.2102 p.S701F 0.001 pfam_Patched pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors PTCHD2 HGNC PZP 5858 genome.wustl.edu 37 12 9316798 9316798 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 12 9316798 9316798 C T SNP PZP ENST00000261336 human ensembl 70_37 -1 known missense c.2545 p.E849K 0.000 pfam_SV_autoAg pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC RAPGEFL1 51195 genome.wustl.edu 37 17 38340914 38340914 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 17 38340914 38340914 G A SNP RAPGEFL1 ENST00000264644 human ensembl 70_37 +1 known missense c.199 p.E67K 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 - no_errors RAPGEFL1 HGNC RBM24 221662 genome.wustl.edu 37 6 17292448 17292449 + RNA INS - - AAA TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 17292448 17292449 - AAA INS RBM24 ENST00000504055 human ensembl 70_37 +1 known rna NULL NULL 0.997:0.915 - - - no_errors RBM24 HGNC RCOR2 283248 genome.wustl.edu 37 11 63682379 63682379 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 11 63682379 63682379 C G SNP RCOR2 ENST00000301459 human ensembl 70_37 -1 known missense c.313 p.E105Q 1.000 pfscan_ELM2_dom pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors RCOR2 HGNC RFFL 117584 genome.wustl.edu 37 17 33353531 33353531 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 17 33353531 33353531 C G SNP RFFL ENST00000315249 human ensembl 70_37 -1 known missense c.42 p.Q14H 0.999 superfamily_Znf_FYVE_PHD superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING - no_errors RFFL HGNC RFX4 5992 genome.wustl.edu 37 12 107126766 107126766 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 12 107126766 107126766 G A SNP RFX4 ENST00000357881 human ensembl 70_37 +1 known silent c.1563 p.S521 0.036 NULL pfam_DNA-bd_RFX - no_errors RFX4 HGNC RIMS2 9699 genome.wustl.edu 37 8 105010465 105010465 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 8 105010465 105010465 C T SNP RIMS2 ENST00000436393 human ensembl 70_37 +1 novel missense c.2431 p.H811Y 1.000 NULL pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors RIMS2 HGNC RNF207 388591 genome.wustl.edu 37 1 6270935 6270935 + Silent SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 6270935 6270935 G C SNP RNF207 ENST00000377939 human ensembl 70_37 +1 novel silent c.948 p.L316 1.000 NULL pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors RNF207 HGNC RNPEP 6051 genome.wustl.edu 37 1 201970518 201970518 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 201970518 201970518 G A SNP RNPEP ENST00000295640 human ensembl 70_37 +1 known missense c.1219 p.D407N 0.931 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEP HGNC RPS3A 6189 genome.wustl.edu 37 4 152022192 152022192 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 4 152022192 152022192 G A SNP RPS3A ENST00000274065 human ensembl 70_37 +1 known missense c.232 p.E78K 1.000 pfam_Ribosomal_S3Ae pfam_Ribosomal_S3Ae - no_errors RPS3A HGNC RTTN 25914 genome.wustl.edu 37 18 67718769 67718769 + Nonsense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 18 67718769 67718769 G C SNP RTTN ENST00000255674 human ensembl 70_37 -1 known nonsense c.5201 p.S1734* 0.000 NULL superfamily_ARM-type_fold - no_errors RTTN HGNC S100A9 6280 genome.wustl.edu 37 1 153330788 153330788 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 153330788 153330788 G C SNP S100A9 ENST00000368738 human ensembl 70_37 +1 known missense c.29 p.R10P 0.000 pfam_S100_Ca-bd_sub pfam_S100_Ca-bd_sub,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors S100A9 HGNC SEMA4B 10509 genome.wustl.edu 37 15 90771715 90771715 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 15 90771715 90771715 G A SNP SEMA4B ENST00000332496 human ensembl 70_37 +1 known missense c.2354 p.R785Q 1.000 NULL pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA4B HGNC SENP1 29843 genome.wustl.edu 37 12 48477376 48477376 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 12 48477376 48477376 C T SNP SENP1 ENST00000004980 human ensembl 70_37 -1 known missense c.550 p.E184K 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP1 HGNC SENP7 57337 genome.wustl.edu 37 3 101056409 101056409 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 101056409 101056409 G C SNP SENP7 ENST00000394095 human ensembl 70_37 -1 known missense c.2424 p.F808L 1.000 pfam_Peptidase_C48,pfscan_Peptidase_C48 pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP7 HGNC SEPT3 55964 genome.wustl.edu 37 22 42383277 42383277 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 22 42383277 42383277 C G SNP SEPT3 ENST00000396426 human ensembl 70_37 +1 known missense c.399 p.I133M 1.000 pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,pirsf_Septin,prints_Septin3 - no_errors SEPT3 HGNC SFXN4 119559 genome.wustl.edu 37 10 120920455 120920455 + Missense_Mutation SNP G G T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 10 120920455 120920455 G T SNP SFXN4 ENST00000355697 human ensembl 70_37 -1 known missense c.306 p.N102K 0.015 pfam_Mtc pfam_Mtc - no_errors SFXN4 HGNC SH3RF1 57630 genome.wustl.edu 37 4 170038882 170038882 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 4 170038882 170038882 C G SNP SH3RF1 ENST00000284637 human ensembl 70_37 -1 known missense c.1569 p.Q523H 0.799 superfamily_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_p67phox,prints_SH3_domain - no_errors SH3RF1 HGNC SIGLEC6 946 genome.wustl.edu 37 19 52033111 52033111 + Silent SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 52033111 52033111 C G SNP SIGLEC6 ENST00000425629 human ensembl 70_37 -1 known silent c.879 p.L293 0.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC6 HGNC SIK1 150094 genome.wustl.edu 37 21 44839823 44839823 + Silent SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 21 44839823 44839823 G C SNP SIK1 ENST00000270162 human ensembl 70_37 -1 known silent c.1035 p.L345 1.000 pirsf_Ser/Thr_kinase_SIK1/2 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,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK1 HGNC SLC24A1 9187 genome.wustl.edu 37 15 65942798 65942798 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 15 65942798 65942798 G A SNP SLC24A1 ENST00000261892 human ensembl 70_37 +1 known missense c.2311 p.E771K 0.044 tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A1 HGNC SLC25A35 399512 genome.wustl.edu 37 17 8197763 8197763 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 17 8197763 8197763 G A SNP SLC25A35 ENST00000577745 human ensembl 70_37 -1 known silent c.363 p.S121 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A35 HGNC SLC39A7 7922 genome.wustl.edu 37 6 33169070 33169070 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 33169070 33169070 G A SNP SLC39A7 ENST00000374675 human ensembl 70_37 +1 known silent c.48 p.L16 1.000 NULL pfam_ZIP,prints_Kininogen - no_errors SLC39A7 HGNC SLC41A3 54946 genome.wustl.edu 37 3 125745256 125745256 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 125745256 125745256 C G SNP SLC41A3 ENST00000315891 human ensembl 70_37 -1 known missense c.520 p.E174Q 0.008 pfam_MgtE_Mg_transptr_membr pfam_MgtE_Mg_transptr_membr,superfamily_Acyl_Trfase/lysoPLipase - no_errors SLC41A3 HGNC SLC9A6 10479 genome.wustl.edu 37 X 135080293 135080293 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 X 135080293 135080293 C T SNP SLC9A6 ENST00000370695 human ensembl 70_37 +1 known silent c.552 p.F184 1.000 pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A6 HGNC SLIT3 6586 genome.wustl.edu 37 5 168123399 168123399 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 5 168123399 168123399 C T SNP SLIT3 ENST00000519560 human ensembl 70_37 -1 known missense c.2980 p.E994K 1.000 smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC SMG5 23381 genome.wustl.edu 37 1 156228856 156228856 + Silent SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 156228856 156228856 G C SNP SMG5 ENST00000361813 human ensembl 70_37 -1 known silent c.2382 p.V794 1.000 NULL pfam_EST1,smart_PINc_nuc-bd - no_errors SMG5 HGNC SOS1 6654 genome.wustl.edu 37 2 39240630 39240630 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 2 39240630 39240630 C T SNP SOS1 ENST00000402219 human ensembl 70_37 -1 known missense c.2138 p.R713Q 0.901 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS1 HGNC SP2 6668 genome.wustl.edu 37 17 45994224 45994224 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 17 45994224 45994224 G A SNP SP2 ENST00000376741 human ensembl 70_37 +1 known missense c.787 p.E263K 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP2 HGNC SPEM1 374768 genome.wustl.edu 37 17 7324764 7324764 + Nonsense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 17 7324764 7324764 C G SNP SPEM1 ENST00000323675 human ensembl 70_37 +1 known nonsense c.770 p.S257* 0.681 NULL NULL - no_errors SPEM1 HGNC SPEN 23013 genome.wustl.edu 37 1 16255901 16255902 + Frame_Shift_Del DEL AG AG - TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 16255901 16255902 AG - DEL SPEN ENST00000375759 human ensembl 70_37 +1 known frame_shift_del c.3166_3167 p.R1056fs 1.000:1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC SPG11 80208 genome.wustl.edu 37 15 44888480 44888480 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 15 44888480 44888480 G A SNP SPG11 ENST00000261866 human ensembl 70_37 -1 known missense c.4235 p.S1412L 0.002 NULL NULL - no_errors SPG11 HGNC SPINK4 27290 genome.wustl.edu 37 9 33221052 33221052 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 9 33221052 33221052 G A SNP SPINK4 ENST00000379723 human ensembl 70_37 +1 known missense c.76 p.D26N 0.000 NULL pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,smart_Prot_inh_Kazal - no_errors SPINK4 HGNC SRGAP1 57522 genome.wustl.edu 37 12 64383826 64383826 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 12 64383826 64383826 G A SNP SRGAP1 ENST00000355086 human ensembl 70_37 +1 known missense c.400 p.E134K 1.000 NULL pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC SRP9 6726 genome.wustl.edu 37 1 225977058 225977058 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 225977058 225977058 G A SNP SRP9 ENST00000304786 human ensembl 70_37 +1 known silent c.258 p.E86 1.000 NULL pfam_Signal_recog_particle_SRP9,superfamily_Signal_recog_particle_SRP9/14,pirsf_Signal_recog_particle_SRP9 - no_errors SRP9 HGNC SSH1 54434 genome.wustl.edu 37 12 109185927 109185927 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 12 109185927 109185927 G A SNP SSH1 ENST00000326470 human ensembl 70_37 -1 known silent c.2061 p.L687 0.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH1 HGNC SSNA1 8636 genome.wustl.edu 37 9 140084301 140084301 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 9 140084301 140084301 G A SNP SSNA1 ENST00000322310 human ensembl 70_37 +1 known missense c.295 p.E99K 1.000 NULL NULL - no_errors SSNA1 HGNC STMN3 50861 genome.wustl.edu 37 20 62272750 62272750 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 20 62272750 62272750 C G SNP STMN3 ENST00000370053 human ensembl 70_37 -1 known missense c.484 p.E162Q 1.000 pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam - no_errors STMN3 HGNC STMN3 50861 genome.wustl.edu 37 20 62275132 62275132 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 20 62275132 62275132 C G SNP STMN3 ENST00000370053 human ensembl 70_37 -1 known missense c.268 p.E90Q 1.000 pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam - no_errors STMN3 HGNC SUPT16H 11198 genome.wustl.edu 37 14 21852049 21852049 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 14 21852049 21852049 C T SNP SUPT16H ENST00000216297 human ensembl 70_37 -1 known missense c.38 p.R13Q 1.000 NULL pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain - no_errors SUPT16H HGNC SYNE1 23345 genome.wustl.edu 37 6 152671384 152671384 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 152671384 152671384 C T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known silent c.11820 p.Q3940 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC SYNGAP1 8831 genome.wustl.edu 37 6 33403358 33403358 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 33403358 33403358 G C SNP SYNGAP1 ENST00000418600 human ensembl 70_37 +1 known missense c.730 p.E244Q 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC TAB2 23118 genome.wustl.edu 37 6 149699569 149699569 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 149699569 149699569 G C SNP TAB2 ENST00000286332 human ensembl 70_37 +1 known missense c.518 p.R173T 1.000 NULL pfam_CUE,pfam_Znf_RanBP2,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB2 HGNC TBPL1 9519 genome.wustl.edu 37 6 134305526 134305526 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 134305526 134305526 G C SNP TBPL1 ENST00000237264 human ensembl 70_37 +1 known missense c.295 p.D99H 1.000 pfam_TBP pfam_TBP,prints_TBP - no_errors TBPL1 HGNC TCF20 6942 genome.wustl.edu 37 22 42610495 42610495 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 22 42610495 42610495 C T SNP TCF20 ENST00000359486 human ensembl 70_37 -1 known missense c.817 p.E273K 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC TEDDM1 127670 genome.wustl.edu 37 1 182369456 182369456 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 182369456 182369456 C T SNP TEDDM1 ENST00000367565 human ensembl 70_37 -1 known missense c.165 p.M55I 0.001 NULL pfam_DUF716_TMEM45 - no_errors TEDDM1 HGNC TET2 54790 genome.wustl.edu 37 4 106157383 106157383 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 4 106157383 106157383 C T SNP TET2 ENST00000380013 human ensembl 70_37 +1 known missense c.2284 p.H762Y 0.961 NULL NULL - no_errors TET2 HGNC TICRR 90381 genome.wustl.edu 37 15 90129000 90129000 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 15 90129000 90129000 C G SNP TICRR ENST00000268138 human ensembl 70_37 +1 known missense c.1238 p.S413C 0.506 NULL NULL - no_errors TICRR HGNC TJP1 7082 genome.wustl.edu 37 15 29996371 29996371 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 15 29996371 29996371 G A SNP TJP1 ENST00000356107 human ensembl 70_37 -1 novel missense c.5207 p.S1736L 1.000 smart_ZU5,pfscan_ZU5 pfam_PDZ,pfam_ZU5,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC TMEM57 55219 genome.wustl.edu 37 1 25812143 25812143 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 25812143 25812143 G C SNP TMEM57 ENST00000374343 human ensembl 70_37 +1 known missense c.1353 p.Q451H 1.000 pfam_Macoilin,superfamily_Prefoldin pfam_Macoilin,superfamily_Prefoldin - no_errors TMEM57 HGNC TRIOBP 11078 genome.wustl.edu 37 22 38130481 38130481 + Nonsense_Mutation SNP G G T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 22 38130481 38130481 G T SNP TRIOBP ENST00000406386 human ensembl 70_37 +1 known nonsense c.4138 p.E1380* 0.048 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC TRIOBP 11078 genome.wustl.edu 37 22 38130493 38130493 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 22 38130493 38130493 G A SNP TRIOBP ENST00000406386 human ensembl 70_37 +1 known missense c.4150 p.E1384K 0.962 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC TRPC1 7220 genome.wustl.edu 37 3 142462353 142462353 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 142462353 142462353 C T SNP TRPC1 ENST00000476941 human ensembl 70_37 +1 known silent c.354 p.I118 1.000 superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC1 HGNC TRPS1 7227 genome.wustl.edu 37 8 116616498 116616498 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 8 116616498 116616498 G A SNP TRPS1 ENST00000395715 human ensembl 70_37 -1 known silent c.1698 p.L566 1.000 smart_Znf_C2H2-like pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC TSPAN14 81619 genome.wustl.edu 37 10 82279344 82279344 + RNA SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 10 82279344 82279344 C G SNP TSPAN14 ENST00000265450 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TSPAN14 HGNC TTN 7273 genome.wustl.edu 37 2 179433825 179433825 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 2 179433825 179433825 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.69330 p.E23110D 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TULP4 56995 genome.wustl.edu 37 6 158834175 158834175 + Nonsense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 158834175 158834175 C T SNP TULP4 ENST00000367097 human ensembl 70_37 +1 known nonsense c.331 p.Q111* 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC UBC 7316 genome.wustl.edu 37 12 125396957 125396957 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 12 125396957 125396957 C G SNP UBC ENST00000339647 human ensembl 70_37 -1 known missense c.1361 p.R454T 0.238 pfam_Ubiquitin,pfscan_Ubiquitin_supergroup pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors UBC HGNC UBN1 29855 genome.wustl.edu 37 16 4925053 4925053 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 16 4925053 4925053 C T SNP UBN1 ENST00000262376 human ensembl 70_37 +1 known missense c.2642 p.S881F 0.013 NULL NULL - no_errors UBN1 HGNC UBTF 7343 genome.wustl.edu 37 17 42289777 42289777 + Nonsense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 17 42289777 42289777 G A SNP UBTF ENST00000302904 human ensembl 70_37 -1 known nonsense c.706 p.Q236* 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_ARM-type_fold,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_ARM-type_fold,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors UBTF HGNC UBXN11 91544 genome.wustl.edu 37 1 26620814 26620814 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 26620814 26620814 G A SNP UBXN11 ENST00000374221 human ensembl 70_37 -1 known silent c.441 p.L147 0.299 NULL pfam_SEP_domain,superfamily_SEP_domain,pfscan_UBX - no_errors UBXN11 HGNC UHMK1 127933 genome.wustl.edu 37 1 162467847 162467847 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 162467847 162467847 C T SNP UHMK1 ENST00000489294 human ensembl 70_37 +1 known silent c.57 p.F19 0.999 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RRM_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Prot_kinase_cat_dom - no_errors UHMK1 HGNC UHRF1BP1 54887 genome.wustl.edu 37 6 34802138 34802138 + Missense_Mutation SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 34802138 34802138 G C SNP UHRF1BP1 ENST00000192788 human ensembl 70_37 +1 known missense c.483 p.Q161H 1.000 NULL NULL - no_errors UHRF1BP1 HGNC URB1 9875 genome.wustl.edu 37 21 33692951 33692951 + Splice_Site SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 21 33692951 33692951 C G SNP URB1 ENST00000382751 human ensembl 70_37 -1 known splice_site c.5485-1 e35-1 0.999 - - - no_errors URB1 HGNC USP26 83844 genome.wustl.edu 37 X 132161543 132161543 + Nonsense_Mutation SNP C C A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 X 132161543 132161543 C A SNP USP26 ENST00000370832 human ensembl 70_37 -1 known nonsense c.706 p.E236* 0.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP26 HGNC USP8 9101 genome.wustl.edu 37 15 50786321 50786321 + Missense_Mutation SNP G G T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 15 50786321 50786321 G T SNP USP8 ENST00000307179 human ensembl 70_37 +1 known missense c.2502 p.M834I 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_DUF1873,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_Rsp5_WWP,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19 - no_errors USP8 HGNC VANGL2 57216 genome.wustl.edu 37 1 160395021 160395021 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 160395021 160395021 G A SNP VANGL2 ENST00000368061 human ensembl 70_37 +1 known silent c.1419 p.K473 0.978 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL2 HGNC VCPIP1 80124 genome.wustl.edu 37 8 67547485 67547485 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 8 67547485 67547485 C G SNP VCPIP1 ENST00000310421 human ensembl 70_37 -1 known missense c.2920 p.D974H 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC VIL1 7429 genome.wustl.edu 37 2 219292983 219292983 + Missense_Mutation SNP G G T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 2 219292983 219292983 G T SNP VIL1 ENST00000248444 human ensembl 70_37 +1 known missense c.490 p.D164Y 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 VIL1 HGNC WASIR2 100132169 genome.wustl.edu 37 16 73077 73077 + RNA SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 16 73077 73077 G A SNP WASIR2 ENST00000329244 human ensembl 70_37 +1 known rna NULL NULL 0.011 - - - no_errors WASIR2 HGNC WDR78 79819 genome.wustl.edu 37 1 67340544 67340544 + Silent SNP G G C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 67340544 67340544 G C SNP WDR78 ENST00000371026 human ensembl 70_37 -1 known silent c.720 p.L240 0.965 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR78 HGNC YAP1 10413 genome.wustl.edu 37 11 101981896 101981896 + Missense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 11 101981896 101981896 G A SNP YAP1 ENST00000282441 human ensembl 70_37 +1 known missense c.317 p.R106Q 1.000 NULL pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors YAP1 HGNC ZAP70 7535 genome.wustl.edu 37 2 98340609 98340609 + Missense_Mutation SNP G G T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 2 98340609 98340609 G T SNP ZAP70 ENST00000264972 human ensembl 70_37 +1 known missense c.110 p.R37L 1.000 pfam_SH2,smart_SH2,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ZAP70 HGNC ZBTB40 9923 genome.wustl.edu 37 1 22850819 22850819 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 1 22850819 22850819 C T SNP ZBTB40 ENST00000375647 human ensembl 70_37 +1 known missense c.3407 p.P1136L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB40 HGNC ZFAND4 93550 genome.wustl.edu 37 10 46147460 46147460 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 10 46147460 46147460 C T SNP ZFAND4 ENST00000344646 human ensembl 70_37 -1 known silent c.282 p.L94 1.000 pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr pfam_Ubiquitin,pfam_Znf_AN1,smart_Ubiquitin,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors ZFAND4 HGNC ZIC4 84107 genome.wustl.edu 37 3 147113918 147113918 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 147113918 147113918 C T SNP ZIC4 ENST00000525172 human ensembl 70_37 -1 known missense c.559 p.G187S 0.053 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC4 HGNC ZNF133 7692 genome.wustl.edu 37 20 18296266 18296266 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 20 18296266 18296266 C T SNP ZNF133 ENST00000396026 human ensembl 70_37 +1 known silent c.780 p.L260 0.001 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 ZNF133 HGNC ZNF160 90338 genome.wustl.edu 37 19 53571571 53571571 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 53571571 53571571 C T SNP ZNF160 ENST00000418871 human ensembl 70_37 -1 known missense c.2216 p.G739D 0.928 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 ZNF160 HGNC ZNF20 7568 genome.wustl.edu 37 19 12246343 12246343 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 12246343 12246343 C T SNP ZNF20 ENST00000334213 human ensembl 70_37 -1 known missense c.172 p.E58K 0.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF20 HGNC ZNF280A 129025 genome.wustl.edu 37 22 22868860 22868860 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 22 22868860 22868860 G A SNP ZNF280A ENST00000302097 human ensembl 70_37 -1 known silent c.1095 p.V365 0.499 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280A HGNC ZBTB21 49854 genome.wustl.edu 37 21 43412671 43412671 + Missense_Mutation SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 21 43412671 43412671 C G SNP ZNF295 ENST00000310826 human ensembl 70_37 -1 known missense c.1534 p.E512Q 0.639 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF295 HGNC ZNF324B 388569 genome.wustl.edu 37 19 58966858 58966858 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 58966858 58966858 C T SNP ZNF324B ENST00000336614 human ensembl 70_37 +1 known missense c.547 p.R183W 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 ZNF324B HGNC ZNF343 79175 genome.wustl.edu 37 20 2465219 2465219 + Nonsense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 20 2465219 2465219 G A SNP ZNF343 ENST00000278772 human ensembl 70_37 -1 known nonsense c.388 p.Q130* 0.454 pfscan_Krueppel-associated_box 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 ZNF343 HGNC ZNF385D 79750 genome.wustl.edu 37 3 21465528 21465528 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 3 21465528 21465528 C T SNP ZNF385D ENST00000281523 human ensembl 70_37 -1 known missense c.881 p.R294K 1.000 smart_Znf_U1 pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385D HGNC ZNF500 26048 genome.wustl.edu 37 16 4812281 4812281 + Silent SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 16 4812281 4812281 G A SNP ZNF500 ENST00000219478 human ensembl 70_37 -1 known silent c.654 p.A218 0.987 superfamily_Krueppel-associated_box pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF500 HGNC ZNF595 152687 genome.wustl.edu 37 4 87250 87250 + RNA SNP C C G TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 4 87250 87250 C G SNP ZNF595 ENST00000339368 human ensembl 70_37 +1 known rna NULL NULL 0.240 - - - no_errors ZNF595 HGNC ZNF613 79898 genome.wustl.edu 37 19 52443955 52443955 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 52443955 52443955 C T SNP ZNF613 ENST00000293471 human ensembl 70_37 +1 known silent c.228 p.I76 0.000 pfscan_Krueppel-associated_box 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 ZNF613 HGNC ZNF658 26149 genome.wustl.edu 37 9 40774575 40774575 + Nonsense_Mutation SNP G G A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 9 40774575 40774575 G A SNP ZNF658 ENST00000377626 human ensembl 70_37 -1 known nonsense c.700 p.Q234* 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 ZNF658 HGNC ZNF83 55769 genome.wustl.edu 37 19 53116855 53116855 + Silent SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 53116855 53116855 C T SNP ZNF83 ENST00000301096 human ensembl 70_37 -1 known silent c.963 p.E321 0.415 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF83 HGNC ZNF83 55769 genome.wustl.edu 37 19 53116856 53116856 + Missense_Mutation SNP T T A TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 53116856 53116856 T A SNP ZNF83 ENST00000301096 human ensembl 70_37 -1 known missense c.962 p.E321V 0.418 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF83 HGNC ZNF83 55769 genome.wustl.edu 37 19 53116865 53116865 + Missense_Mutation SNP T T C TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 19 53116865 53116865 T C SNP ZNF83 ENST00000301096 human ensembl 70_37 -1 known missense c.953 p.K318R 0.056 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF83 HGNC ZSCAN23 222696 genome.wustl.edu 37 6 28403285 28403285 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eeec3f16-0e6d-409f-91cb-732488e46db1 f27085a9-4270-498d-bbac-d8314d57bb38 6 28403285 28403285 C T SNP ZSCAN23 ENST00000289788 human ensembl 70_37 -1 known missense c.508 p.E170K 0.766 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN23 HGNC