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 AAK1 22848 genome.wustl.edu 37 2 69723155 69723155 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 69723155 69723155 G C SNP AAK1 ENST00000409085 human ensembl 70_37 -1 known missense c.2327 p.S776C 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors AAK1 HGNC ABCB1 5243 genome.wustl.edu 37 7 87150144 87150144 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 87150144 87150144 G C SNP ABCB1 ENST00000265724 human ensembl 70_37 -1 known missense c.2734 p.Q912E 0.998 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB1 HGNC ABCC11 85320 genome.wustl.edu 37 16 48227826 48227826 + Missense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 16 48227826 48227826 G T SNP ABCC11 ENST00000356608 human ensembl 70_37 -1 known missense c.2472 p.F824L 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 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 ABHD11 83451 genome.wustl.edu 37 7 73152310 73152310 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 73152310 73152310 C T SNP ABHD11 ENST00000468998 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors ABHD11 HGNC ACSL3 2181 genome.wustl.edu 37 2 223787797 223787797 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 223787797 223787797 C G SNP ACSL3 ENST00000357430 human ensembl 70_37 +1 known missense c.1082 p.S361C 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL3 HGNC ACSM3 6296 genome.wustl.edu 37 16 20808273 20808273 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 16 20808273 20808273 G C SNP ACSM3 ENST00000289416 human ensembl 70_37 +1 known missense c.1740 p.K580N 0.771 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM3 HGNC ADAM15 8751 genome.wustl.edu 37 1 155025221 155025221 + Missense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 155025221 155025221 G T SNP ADAM15 ENST00000356955 human ensembl 70_37 +1 known missense c.154 p.D52Y 0.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM15 HGNC ADAMTS7 11173 genome.wustl.edu 37 15 79068583 79068583 + Silent SNP T T A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 79068583 79068583 T A SNP ADAMTS7 ENST00000388820 human ensembl 70_37 -1 known silent c.1653 p.S551 0.759 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ADARB2 105 genome.wustl.edu 37 10 1779303 1779303 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 1779303 1779303 C T SNP ADARB2 ENST00000381312 human ensembl 70_37 -1 known silent c.42 p.L14 0.671 NULL pfam_A_deamin,pfam_Ds-RNA-bd,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin - no_errors ADARB2 HGNC ADCY10 55811 genome.wustl.edu 37 1 167825573 167825573 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 167825573 167825573 G A SNP ADCY10 ENST00000367851 human ensembl 70_37 -1 known silent c.2001 p.F667 0.991 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ADRA1B 147 genome.wustl.edu 37 5 159344660 159344660 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 159344660 159344660 G A SNP ADRA1B ENST00000306675 human ensembl 70_37 +1 known missense c.748 p.E250K 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrene_rcpt_A1B,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRA1B HGNC ADRA2A 150 genome.wustl.edu 37 10 112839110 112839110 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 112839110 112839110 C T SNP ADRA2A ENST00000280155 human ensembl 70_37 +1 known silent c.1356 p.F452 1.000 prints_Adren_rcpt_A2A,prints_Adrnrgc_rcpt,prints_Musac_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adren_rcpt_A2A,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt,prints_Musac_rcpt - no_errors ADRA2A HGNC ADSSL1 122622 genome.wustl.edu 37 14 105196232 105196232 + Missense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 14 105196232 105196232 G T SNP ADSSL1 ENST00000332972 human ensembl 70_37 +1 known missense c.3 p.M1I 0.081 NULL pfam_Adenylosuccinate_synthetase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase - no_errors ADSSL1 HGNC AEBP1 165 genome.wustl.edu 37 7 44151818 44151818 + Silent SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 44151818 44151818 C G SNP AEBP1 ENST00000223357 human ensembl 70_37 +1 known silent c.2115 p.L705 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC AGFG2 3268 genome.wustl.edu 37 7 100151041 100151041 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 100151041 100151041 C T SNP AGFG2 ENST00000300176 human ensembl 70_37 +1 known missense c.503 p.S168F 0.998 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors AGFG2 HGNC AGPAT3 56894 genome.wustl.edu 37 21 45374858 45374858 + RNA SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 21 45374858 45374858 G C SNP AGPAT3 ENST00000497909 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AGPAT3 HGNC AKT2 208 genome.wustl.edu 37 19 40741040 40741040 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 40741040 40741040 G C SNP AKT2 ENST00000392038 human ensembl 70_37 -1 known missense c.1278 p.F426L 1.000 superfamily_Kinase-like_dom,smart_AGC-kinase_C pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom - no_errors AKT2 HGNC ALG8 79053 genome.wustl.edu 37 11 77830290 77830290 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 77830290 77830290 G A SNP ALG8 ENST00000299626 human ensembl 70_37 -1 known missense c.484 p.H162Y 1.000 pfam_Glyco_trans_ALG6/ALG8 pfam_Glyco_trans_ALG6/ALG8 - no_errors ALG8 HGNC ANKRD34A 284615 genome.wustl.edu 37 1 145473666 145473666 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 145473666 145473666 C T SNP ANKRD34A ENST00000323397 human ensembl 70_37 +1 known missense c.338 p.S113L 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34A HGNC ANKRD34A 284615 genome.wustl.edu 37 1 145473676 145473676 + Silent SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 145473676 145473676 C A SNP ANKRD34A ENST00000323397 human ensembl 70_37 +1 known silent c.348 p.V116 0.996 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34A HGNC ANKRD34C 390616 genome.wustl.edu 37 15 79585660 79585660 + Nonsense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 79585660 79585660 G T SNP ANKRD34C ENST00000421388 human ensembl 70_37 +1 known nonsense c.34 p.G12* 0.997 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34C HGNC APLP1 333 genome.wustl.edu 37 19 36365430 36365430 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 36365430 36365430 C G SNP APLP1 ENST00000221891 human ensembl 70_37 +1 known missense c.1081 p.L361V 1.000 superfamily_Amyloid_glyco_E2_domain pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra,prints_Amyloid_glyco - no_errors APLP1 HGNC ARHGAP27 201176 genome.wustl.edu 37 17 43473916 43473916 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 43473916 43473916 C G SNP ARHGAP27 ENST00000428638 human ensembl 70_37 -1 known missense c.2110 p.E704Q 0.980 superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_WW_Rsp5_WWP,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom - no_errors ARHGAP27 HGNC ARHGAP27 201176 genome.wustl.edu 37 17 43507519 43507519 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 43507519 43507519 C T SNP ARHGAP27 ENST00000428638 human ensembl 70_37 -1 known missense c.127 p.E43K 0.994 superfamily_SH3_domain,pfscan_SH3_domain pfam_RhoGAP_dom,pfam_WW_Rsp5_WWP,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom - no_errors ARHGAP27 HGNC ARHGAP35 2909 genome.wustl.edu 37 19 47503618 47503618 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 47503618 47503618 G C SNP ARHGAP35 ENST00000404338 human ensembl 70_37 +1 known missense c.4173 p.M1391I 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ARHGAP4 393 genome.wustl.edu 37 X 153178166 153178166 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 153178166 153178166 C G SNP ARHGAP4 ENST00000350060 human ensembl 70_37 -1 known missense c.1530 p.E510D 0.997 superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP4 HGNC ARHGEF10L 55160 genome.wustl.edu 37 1 17966704 17966704 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 17966704 17966704 C T SNP ARHGEF10L ENST00000361221 human ensembl 70_37 +1 known missense c.2179 p.R727C 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ARHGEF12 23365 genome.wustl.edu 37 11 120312487 120312487 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 120312487 120312487 C G SNP ARHGEF12 ENST00000356641 human ensembl 70_37 +1 known missense c.1107 p.F369L 0.948 pfam_Regulat_G_prot_signal-like,superfamily_Regulat_G_prot_signal_superfam pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ARHGEF12 23365 genome.wustl.edu 37 11 120318967 120318967 + Silent SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 120318967 120318967 C G SNP ARHGEF12 ENST00000356641 human ensembl 70_37 +1 known silent c.1590 p.L530 0.997 pfam_Regulat_G_prot_signal-like,superfamily_Regulat_G_prot_signal_superfam pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ARHGEF12 23365 genome.wustl.edu 37 11 120348212 120348212 + Nonsense_Mutation SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 120348212 120348212 C A SNP ARHGEF12 ENST00000356641 human ensembl 70_37 +1 known nonsense c.3452 p.S1151* 1.000 NULL pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ARHGEF15 22899 genome.wustl.edu 37 17 8216307 8216307 + Silent SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 8216307 8216307 C G SNP ARHGEF15 ENST00000361926 human ensembl 70_37 +1 known silent c.669 p.L223 0.961 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ARHGEF17 9828 genome.wustl.edu 37 11 73021844 73021844 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 73021844 73021844 G A SNP ARHGEF17 ENST00000263674 human ensembl 70_37 +1 known missense c.2161 p.E721K 0.994 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ARMC8 25852 genome.wustl.edu 37 3 137983011 137983011 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 137983011 137983011 G A SNP ARMC8 ENST00000469044 human ensembl 70_37 +1 known missense c.1256 p.R419Q 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC8 HGNC ARMC8 25852 genome.wustl.edu 37 3 137991869 137991869 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 137991869 137991869 G A SNP ARMC8 ENST00000469044 human ensembl 70_37 +1 known missense c.1540 p.E514K 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC8 HGNC ART4 420 genome.wustl.edu 37 12 14993509 14993509 + Silent SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 14993509 14993509 G C SNP ART4 ENST00000228936 human ensembl 70_37 -1 known silent c.723 p.L241 1.000 pfam_ART pfam_ART,prints_ART - no_errors ART4 HGNC ART4 420 genome.wustl.edu 37 12 14995906 14995906 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 14995906 14995906 C T SNP ART4 ENST00000228936 human ensembl 70_37 -1 known missense c.142 p.E48K 0.239 NULL pfam_ART,prints_ART - no_errors ART4 HGNC ASB13 79754 genome.wustl.edu 37 10 5683875 5683875 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 5683875 5683875 C T SNP ASB13 ENST00000357700 human ensembl 70_37 -1 known silent c.567 p.A189 0.008 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB13 HGNC ASIC3 9311 genome.wustl.edu 37 7 150746280 150746280 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 150746280 150746280 C T SNP ASIC3 ENST00000297512 human ensembl 70_37 +1 known missense c.308 p.T103M 0.849 pfam_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC3 HGNC ASXL2 55252 genome.wustl.edu 37 2 25965752 25965752 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 25965752 25965752 G C SNP ASXL2 ENST00000435504 human ensembl 70_37 -1 known missense c.3454 p.L1152V 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ASXL2 55252 genome.wustl.edu 37 2 25966681 25966681 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 25966681 25966681 G A SNP ASXL2 ENST00000435504 human ensembl 70_37 -1 known missense c.2525 p.S842L 0.995 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ASXL2 55252 genome.wustl.edu 37 2 25966688 25966688 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 25966688 25966688 G A SNP ASXL2 ENST00000435504 human ensembl 70_37 -1 known silent c.2518 p.L840 0.831 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ASXL3 80816 genome.wustl.edu 37 18 31322918 31322918 + Nonsense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 18 31322918 31322918 C T SNP ASXL3 ENST00000269197 human ensembl 70_37 +1 known nonsense c.3106 p.R1036* 0.997 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ATF4P4 100127952 genome.wustl.edu 37 11 113661405 113661405 + RNA SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 113661405 113661405 C G SNP ATF4P4 ENST00000393544 human ensembl 70_37 +1 known rna NULL NULL 0.358 - - - no_errors ATF4P4 HGNC ATL3 25923 genome.wustl.edu 37 11 63410919 63410919 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 63410919 63410919 G A SNP ATL3 ENST00000332645 human ensembl 70_37 -1 known missense c.841 p.H281Y 1.000 pfam_Guanylate-bd_N pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors ATL3 HGNC ATP5B 506 genome.wustl.edu 37 12 57033096 57033096 + RNA SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 57033096 57033096 G A SNP ATP5B ENST00000551182 human ensembl 70_37 -1 known rna NULL NULL 0.018 - - - no_errors ATP5B HGNC ATP6V0B 533 genome.wustl.edu 37 1 44441362 44441362 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 44441362 44441362 G A SNP ATP6V0B ENST00000461670 human ensembl 70_37 +1 known silent c.93 p.L31 0.000 NULL NULL - no_errors ATP6V0B HGNC ATP6V1E2 90423 genome.wustl.edu 37 2 46739562 46739562 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 46739562 46739562 C T SNP ATP6V1E2 ENST00000306448 human ensembl 70_37 -1 known missense c.289 p.E97K 0.497 pfam_ATPase_V1/A1-cplx_esu pfam_ATPase_V1/A1-cplx_esu - no_errors ATP6V1E2 HGNC ATRIP 84126 genome.wustl.edu 37 3 48502116 48502116 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 48502116 48502116 C G SNP ATRIP ENST00000320211 human ensembl 70_37 +1 known missense c.1663 p.H555D 0.301 NULL NULL - no_errors ATRIP HGNC B4GALT3 8703 genome.wustl.edu 37 1 161141583 161141583 + RNA SNP T T C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 161141583 161141583 T C SNP B4GALT3 ENST00000470882 human ensembl 70_37 -1 known rna NULL NULL 0.779 - - - no_errors B4GALT3 HGNC BACH1 571 genome.wustl.edu 37 21 30714831 30714831 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 21 30714831 30714831 C G SNP BACH1 ENST00000286800 human ensembl 70_37 +1 known missense c.1888 p.L630V 0.988 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH1 HGNC BAD 572 genome.wustl.edu 37 11 64051746 64051746 + Nonsense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 64051746 64051746 G C SNP BAD ENST00000309032 human ensembl 70_37 -1 known nonsense c.95 p.S32* 0.007 pfam_Bcl-2_BAD pfam_Bcl-2_BAD - no_errors BAD HGNC BCAS3 54828 genome.wustl.edu 37 17 59161923 59161923 + Nonsense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 59161923 59161923 C G SNP BCAS3 ENST00000390652 human ensembl 70_37 +1 known nonsense c.2468 p.S823* 1.000 NULL pfam_BCAS3,pfam_WD40_repeat - no_errors BCAS3 HGNC BCORL1 63035 genome.wustl.edu 37 X 129159284 129159284 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 129159284 129159284 G C SNP BCORL1 ENST00000303743 human ensembl 70_37 +1 known missense c.4008 p.K1336N 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC BDNF-AS 497258 genome.wustl.edu 37 11 27680868 27680868 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 27680868 27680868 C T SNP BDNF-AS ENST00000530313 human ensembl 70_37 +1 known rna NULL NULL 0.033 - - - no_errors BDNF-AS HGNC BDNF-AS 497258 genome.wustl.edu 37 11 27681051 27681051 + RNA SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 27681051 27681051 C G SNP BDNF-AS ENST00000530313 human ensembl 70_37 +1 known rna NULL NULL 0.858 - - - no_errors BDNF-AS HGNC BPTF 2186 genome.wustl.edu 37 17 65889808 65889808 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 65889808 65889808 C T SNP BPTF ENST00000321892 human ensembl 70_37 +1 known missense c.2756 p.S919L 0.997 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC BRCA1 672 genome.wustl.edu 37 17 41223131 41223131 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 41223131 41223131 C T SNP BRCA1 ENST00000471181 human ensembl 70_37 -1 known silent c.4863 p.L1621 0.918 pirsf_BRCA1 pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC C10orf68 79741 genome.wustl.edu 37 10 33123816 33123816 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 33123816 33123816 G C SNP C10orf68 ENST00000375025 human ensembl 70_37 +1 known missense c.1263 p.K421N 0.004 NULL NULL - no_errors C10orf68 HGNC C12orf5 57103 genome.wustl.edu 37 12 4459046 4459046 + Nonsense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 4459046 4459046 C G SNP C12orf5 ENST00000179259 human ensembl 70_37 +1 known nonsense c.254 p.S85* 0.325 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1 - no_errors C12orf5 HGNC C1orf127 148345 genome.wustl.edu 37 1 11014198 11014198 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 11014198 11014198 C T SNP C1orf127 ENST00000377004 human ensembl 70_37 -1 known missense c.977 p.R326Q 0.097 NULL superfamily_DNA-bd_dom_put - no_errors C1orf127 HGNC C1orf141 400757 genome.wustl.edu 37 1 67559205 67559205 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 67559205 67559205 G C SNP C1orf141 ENST00000371006 human ensembl 70_37 -1 known missense c.686 p.S229C 0.001 NULL NULL - no_errors C1orf141 HGNC C2 717 genome.wustl.edu 37 6 31902038 31902038 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 31902038 31902038 C G SNP C2 ENST00000299367 human ensembl 70_37 +1 known missense c.811 p.L271V 0.000 pfam_VWF_A,smart_VWF_A,pirsf_Compl_C2_B,pfscan_VWF_A pfam_VWF_A,pfam_Peptidase_S1_S6,pfam_Sushi_SCR_CCP,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_VWF_A,smart_Peptidase_S1_S6,pirsf_Compl_C2_B,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors C2 HGNC C3 718 genome.wustl.edu 37 19 6679458 6679458 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 6679458 6679458 C T SNP C3 ENST00000245907 human ensembl 70_37 -1 known silent c.4506 p.L1502 0.005 superfamily_A-macroglobulin_rcpt-bd pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C3 HGNC C3orf27 23434 genome.wustl.edu 37 3 128292326 128292326 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 128292326 128292326 C G SNP C3orf27 ENST00000356020 human ensembl 70_37 -1 known missense c.247 p.E83Q 0.047 NULL NULL - no_errors C3orf27 HGNC C5orf42 65250 genome.wustl.edu 37 5 37121812 37121812 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 37121812 37121812 G A SNP C5orf42 ENST00000425232 human ensembl 70_37 -1 known missense c.8930 p.S2977L 0.365 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC C7orf63 79846 genome.wustl.edu 37 7 89906410 89906410 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 89906410 89906410 G A SNP C7orf63 ENST00000389297 human ensembl 70_37 +1 known silent c.1008 p.L336 1.000 NULL superfamily_ARM-type_fold - no_errors C7orf63 HGNC C9orf50 375759 genome.wustl.edu 37 9 132375735 132375735 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 9 132375735 132375735 G A SNP C9orf50 ENST00000372478 human ensembl 70_37 -1 known missense c.1022 p.S341L 0.000 NULL NULL - no_errors C9orf50 HGNC CAD 790 genome.wustl.edu 37 2 27459176 27459176 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 27459176 27459176 G C SNP CAD ENST00000264705 human ensembl 70_37 +1 known missense c.4099 p.E1367Q 1.000 pfam_MGS-like_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC CASC3 22794 genome.wustl.edu 37 17 38324645 38324645 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 38324645 38324645 C G SNP CASC3 ENST00000264645 human ensembl 70_37 +1 known missense c.1940 p.P647R 1.000 NULL pfam_Btz_dom - no_errors CASC3 HGNC CBL 867 genome.wustl.edu 37 11 119149358 119149358 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 119149358 119149358 G A SNP CBL ENST00000264033 human ensembl 70_37 +1 known missense c.1366 p.D456N 1.000 NULL pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBL HGNC CCDC101 112869 genome.wustl.edu 37 16 28597034 28597034 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 16 28597034 28597034 G A SNP CCDC101 ENST00000317058 human ensembl 70_37 +1 known missense c.217 p.E73K 0.999 NULL pfam_SGF29_tudor-like_dom - no_errors CCDC101 HGNC CCDC142 84865 genome.wustl.edu 37 2 74708006 74708006 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 74708006 74708006 G C SNP CCDC142 ENST00000393965 human ensembl 70_37 -1 known missense c.1393 p.L465V 0.645 NULL NULL - no_errors CCDC142 HGNC CCDC19 25790 genome.wustl.edu 37 1 159869894 159869894 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 159869894 159869894 C T SNP CCDC19 ENST00000476696 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CCDC19 HGNC CCDC33 80125 genome.wustl.edu 37 15 74564043 74564043 + Splice_Site SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 74564043 74564043 G A SNP CCDC33 ENST00000321288 human ensembl 70_37 +1 known splice_site c.1156-1 e8-1 1.000 - - - no_errors CCDC33 HGNC CCDC88C 440193 genome.wustl.edu 37 14 91808753 91808753 + Nonsense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 14 91808753 91808753 G A SNP CCDC88C ENST00000389857 human ensembl 70_37 -1 known nonsense c.454 p.Q152* 1.000 pfam_HOOK pfam_HOOK,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC CCDC97 90324 genome.wustl.edu 37 19 41825618 41825618 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 41825618 41825618 G A SNP CCDC97 ENST00000269967 human ensembl 70_37 +1 known silent c.642 p.G214 0.119 pfam_DUF2052_coiled-coil pfam_DUF2052_coiled-coil - no_errors CCDC97 HGNC CD177 57126 genome.wustl.edu 37 19 43858504 43858504 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 43858504 43858504 C T SNP CD177 ENST00000378009 human ensembl 70_37 +1 known silent c.339 p.L113 0.000 NULL pfam_LY6_UPAR - no_errors CD177 HGNC CD34 947 genome.wustl.edu 37 1 208063100 208063101 + Frame_Shift_Ins INS - - A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 208063100 208063101 - A INS CD34 ENST00000367036 human ensembl 70_37 -1 known frame_shift_ins c.83_82 p.S28fs 0.000:0.000 NULL pfam_CD34/Podocalyxin,prints_CD34 - no_errors CD34 HGNC CDH23 64072 genome.wustl.edu 37 10 73574925 73574925 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 73574925 73574925 G A SNP CDH23 ENST00000224721 human ensembl 70_37 +1 known missense c.9964 p.E3322K 0.994 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC CENPF 1063 genome.wustl.edu 37 1 214818772 214818772 + Silent SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 214818772 214818772 C G SNP CENPF ENST00000366955 human ensembl 70_37 +1 known silent c.5859 p.L1953 0.150 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd - no_errors CENPF HGNC CFH 3075 genome.wustl.edu 37 1 196711179 196711179 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 196711179 196711179 G C SNP CFH ENST00000367429 human ensembl 70_37 +1 known missense c.3131 p.R1044T 0.979 superfamily_Complement_control_module,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC CHD7 55636 genome.wustl.edu 37 8 61736429 61736429 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 8 61736429 61736429 C T SNP CHD7 ENST00000307121 human ensembl 70_37 +1 known missense c.3232 p.H1078Y 1.000 pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC CHIA 27159 genome.wustl.edu 37 1 111861126 111861126 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 111861126 111861126 G A SNP CHIA ENST00000343320 human ensembl 70_37 +1 known missense c.741 p.M247I 1.000 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom - no_errors CHIA HGNC CHST12 55501 genome.wustl.edu 37 7 2472514 2472514 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 2472514 2472514 G C SNP CHST12 ENST00000258711 human ensembl 70_37 +1 known missense c.240 p.Q80H 0.000 NULL pfam_Sulfotransferase - no_errors CHST12 HGNC CHST12 55501 genome.wustl.edu 37 7 2473301 2473301 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 2473301 2473301 G A SNP CHST12 ENST00000258711 human ensembl 70_37 +1 known missense c.1027 p.E343K 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST12 HGNC CIC 23152 genome.wustl.edu 37 19 42795860 42795860 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 42795860 42795860 C T SNP CIC ENST00000160740 human ensembl 70_37 +1 known missense c.2849 p.S950L 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors CIC HGNC CIZ1 25792 genome.wustl.edu 37 9 130928414 130928414 + RNA SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 9 130928414 130928414 G T SNP CIZ1 ENST00000461765 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CIZ1 HGNC CLSTN2 64084 genome.wustl.edu 37 3 140167531 140167531 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 140167531 140167531 C G SNP CLSTN2 ENST00000458420 human ensembl 70_37 +1 known missense c.958 p.L320V 1.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC CNDP1 84735 genome.wustl.edu 37 18 72250867 72250867 + Silent SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 18 72250867 72250867 C A SNP CNDP1 ENST00000358821 human ensembl 70_37 +1 known silent c.1380 p.I460 0.000 pfam_Peptidase_M20,pirsf_GSH_degradosome_DUG1 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1 - no_errors CNDP1 HGNC CNIH4 29097 genome.wustl.edu 37 1 224563512 224563512 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 224563512 224563512 G C SNP CNIH4 ENST00000465271 human ensembl 70_37 +1 known missense c.408 p.L136F 1.000 NULL pfam_Cornichon - no_errors CNIH4 HGNC CNTNAP2 26047 genome.wustl.edu 37 7 146805344 146805344 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 146805344 146805344 C T SNP CNTNAP2 ENST00000361727 human ensembl 70_37 +1 known missense c.656 p.S219F 0.991 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC CNTRL 11064 genome.wustl.edu 37 9 123914931 123914931 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 9 123914931 123914931 G C SNP CNTRL ENST00000238341 human ensembl 70_37 +1 known missense c.4132 p.E1378Q 1.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC COL1A1 1277 genome.wustl.edu 37 17 48264089 48264089 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 48264089 48264089 G A SNP COL1A1 ENST00000225964 human ensembl 70_37 -1 known silent c.3726 p.I1242 0.985 smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC COL21A1 81578 genome.wustl.edu 37 6 56047395 56047395 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 56047395 56047395 G C SNP COL21A1 ENST00000244728 human ensembl 70_37 -1 known missense c.22 p.L8V 0.005 NULL pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL21A1 HGNC COL6A6 131873 genome.wustl.edu 37 3 130300620 130300620 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 130300620 130300620 G C SNP COL6A6 ENST00000358511 human ensembl 70_37 +1 known missense c.3763 p.E1255Q 1.000 smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC COMP 1311 genome.wustl.edu 37 19 18898414 18898414 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 18898414 18898414 C T SNP COMP ENST00000222271 human ensembl 70_37 -1 known missense c.1021 p.E341K 0.084 pfam_Thrombospondin_3-like_rpt pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors COMP HGNC CPS1 1373 genome.wustl.edu 37 2 211421548 211421548 + Missense_Mutation SNP T T A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 211421548 211421548 T A SNP CPS1 ENST00000430249 human ensembl 70_37 +1 known missense c.109 p.F37I 0.902 NULL pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE_1,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC CREBBP 1387 genome.wustl.edu 37 16 3788618 3788618 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 16 3788618 3788618 G A SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known missense c.4336 p.R1446C 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC CRISPLD1 83690 genome.wustl.edu 37 8 75898286 75898286 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 8 75898286 75898286 C T SNP CRISPLD1 ENST00000262207 human ensembl 70_37 +1 known missense c.64 p.P22S 0.504 superfamily_CAP_domain pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD1 HGNC CTC1 80169 genome.wustl.edu 37 17 8146353 8146353 + Silent SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 8146353 8146353 G T SNP CTC1 ENST00000315684 human ensembl 70_37 -1 known silent c.147 p.V49 0.062 NULL NULL - no_errors CTC1 HGNC CTSO 1519 genome.wustl.edu 37 4 156850736 156850736 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 4 156850736 156850736 C T SNP CTSO ENST00000433477 human ensembl 70_37 -1 known missense c.796 p.E266K 0.999 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSO HGNC CUL2 8453 genome.wustl.edu 37 10 35349897 35349897 + Splice_Site SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 35349897 35349897 C T SNP CUL2 ENST00000537177 human ensembl 70_37 -1 known splice_site c.280-1 e4-1 1.000 - - - no_errors CUL2 HGNC CUL5 8065 genome.wustl.edu 37 11 107965208 107965208 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 107965208 107965208 G A SNP CUL5 ENST00000393094 human ensembl 70_37 +1 known missense c.1534 p.E512K 1.000 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL5 HGNC CXorf65 158830 genome.wustl.edu 37 X 70326271 70326271 + Nonsense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 70326271 70326271 G A SNP CXorf65 ENST00000374251 human ensembl 70_37 -1 known nonsense c.31 p.Q11* 1.000 NULL NULL - no_errors CXorf65 HGNC CYHR1 50626 genome.wustl.edu 37 8 145689761 145689761 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 8 145689761 145689761 C T SNP CYHR1 ENST00000306145 human ensembl 70_37 -1 known missense c.328 p.E110K 0.981 NULL NULL - no_errors CYHR1 HGNC CYP2C18 1562 genome.wustl.edu 37 10 96493117 96493117 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 96493117 96493117 G A SNP CYP2C18 ENST00000285979 human ensembl 70_37 +1 known missense c.1213 p.E405K 0.746 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C18 HGNC DAB2IP 153090 genome.wustl.edu 37 9 124534964 124534964 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 9 124534964 124534964 C T SNP DAB2IP ENST00000408936 human ensembl 70_37 +1 known silent c.2157 p.V719 1.000 pfam_DUF3498 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 DAB2IP HGNC DBH 1621 genome.wustl.edu 37 9 136501831 136501831 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 9 136501831 136501831 C T SNP DBH ENST00000393056 human ensembl 70_37 +1 known missense c.338 p.A113V 1.000 pfam_DOMON_domain,smart_DOMON_domain,pfscan_DOMON_domain pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors DBH HGNC DCAF16 54876 genome.wustl.edu 37 4 17805988 17805988 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 4 17805988 17805988 C T SNP DCAF16 ENST00000507768 human ensembl 70_37 -1 known rna NULL NULL 0.791 - - - no_errors DCAF16 HGNC DCAF8L2 347442 genome.wustl.edu 37 X 27765223 27765223 + Nonsense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 27765223 27765223 C T SNP DCAF8L2 ENST00000451261 human ensembl 70_37 +1 known nonsense c.211 p.R71* 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L2 HGNC DENND4A 10260 genome.wustl.edu 37 15 66021429 66021429 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 66021429 66021429 C G SNP DENND4A ENST00000443035 human ensembl 70_37 -1 known missense c.1468 p.D490H 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat - no_errors DENND4A HGNC DENND4B 9909 genome.wustl.edu 37 1 153910246 153910246 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 153910246 153910246 C T SNP DENND4B ENST00000361217 human ensembl 70_37 -1 known missense c.2059 p.E687K 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC DGKQ 1609 genome.wustl.edu 37 4 960259 960259 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 4 960259 960259 G A SNP DGKQ ENST00000273814 human ensembl 70_37 -1 known missense c.1423 p.R475W 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ras-assoc,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKQ HGNC DHX57 90957 genome.wustl.edu 37 2 39042697 39042697 + Missense_Mutation SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 39042697 39042697 C A SNP DHX57 ENST00000295373 human ensembl 70_37 -1 known missense c.3572 p.G1191V 1.000 pfam_DUF1605 pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX57 HGNC DIP2B 57609 genome.wustl.edu 37 12 51133261 51133261 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 51133261 51133261 G A SNP DIP2B ENST00000301180 human ensembl 70_37 +1 known missense c.4246 p.D1416N 0.999 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC DIRC2 84925 genome.wustl.edu 37 3 122545733 122545733 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 122545733 122545733 C G SNP DIRC2 ENST00000261038 human ensembl 70_37 +1 known missense c.524 p.S175C 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors DIRC2 HGNC DLGAP5 9787 genome.wustl.edu 37 14 55643784 55643784 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 14 55643784 55643784 C T SNP DLGAP5 ENST00000247191 human ensembl 70_37 -1 known missense c.1045 p.E349K 0.163 pfam_GKAP pfam_GKAP - no_errors DLGAP5 HGNC DMBT1 1755 genome.wustl.edu 37 10 124348535 124348535 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 124348535 124348535 G A SNP DMBT1 ENST00000368915 human ensembl 70_37 +1 known missense c.1859 p.R620Q 0.001 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt - no_errors DMBT1 HGNC DMBT1 1755 genome.wustl.edu 37 10 124399643 124399643 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 124399643 124399643 C T SNP DMBT1 ENST00000368915 human ensembl 70_37 +1 known missense c.7030 p.H2344Y 0.001 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt - no_errors DMBT1 HGNC DNAH3 55567 genome.wustl.edu 37 16 21082114 21082114 + Nonsense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 16 21082114 21082114 G A SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known nonsense c.3118 p.Q1040* 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC DNAJC6 9829 genome.wustl.edu 37 1 65860665 65860665 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 65860665 65860665 C T SNP DNAJC6 ENST00000371069 human ensembl 70_37 +1 known missense c.1988 p.S663F 0.999 NULL pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DnaJ_N,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N - no_errors DNAJC6 HGNC DSG1 1828 genome.wustl.edu 37 18 28923956 28923956 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 18 28923956 28923956 C T SNP DSG1 ENST00000257192 human ensembl 70_37 +1 known missense c.1889 p.S630L 0.892 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmo_cadherin - no_errors DSG1 HGNC DSG3 1830 genome.wustl.edu 37 18 29036985 29036985 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 18 29036985 29036985 G A SNP DSG3 ENST00000257189 human ensembl 70_37 +1 known missense c.114 p.M38I 0.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG3 HGNC DSP 1832 genome.wustl.edu 37 6 7578090 7578090 + Nonsense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 7578090 7578090 C T SNP DSP ENST00000379802 human ensembl 70_37 +1 known nonsense c.2956 p.Q986* 1.000 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC DST 667 genome.wustl.edu 37 6 56374567 56374567 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 56374567 56374567 C G SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.18792 p.Q6264H 1.000 superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC DZIP1 22873 genome.wustl.edu 37 13 96234549 96234549 + Nonsense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 13 96234549 96234549 G C SNP DZIP1 ENST00000347108 human ensembl 70_37 -1 known nonsense c.2543 p.S848* 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DZIP1 HGNC EDC4 23644 genome.wustl.edu 37 16 67917564 67917564 + Nonsense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 16 67917564 67917564 C T SNP EDC4 ENST00000358933 human ensembl 70_37 +1 known nonsense c.3943 p.Q1315* 1.000 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC EEF2K 29904 genome.wustl.edu 37 16 22268579 22268579 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 16 22268579 22268579 C T SNP EEF2K ENST00000263026 human ensembl 70_37 +1 known silent c.774 p.F258 1.000 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase - no_errors EEF2K HGNC ELTD1 64123 genome.wustl.edu 37 1 79403949 79403949 + Nonsense_Mutation SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 79403949 79403949 C A SNP ELTD1 ENST00000370742 human ensembl 70_37 -1 known nonsense c.412 p.E138* 0.611 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC EMC1 23065 genome.wustl.edu 37 1 19553813 19553813 + Silent SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 19553813 19553813 G C SNP EMC1 ENST00000477853 human ensembl 70_37 -1 known silent c.2196 p.L732 1.000 NULL pfam_DUF1620,superfamily_Quinonprotein_ADH-like - no_errors EMC1 HGNC ENSG00000183657 0 genome.wustl.edu 37 3 171510320 171510320 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 171510320 171510320 G A SNP ENSG00000183657 ENST00000331659 human ensembl 70_37 -1 known silent c.279 p.L93 0.000 NULL NULL - no_errors PP13439 Uniprot_genename ENSG00000205233 0 genome.wustl.edu 37 7 102318995 102318995 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 102318995 102318995 C T SNP ENSG00000205233 ENST00000542270 human ensembl 70_37 -1 known silent c.309 p.L103 0.011 NULL NULL - no_errors AC105052.1 Clone_based_ensembl_gene ENSG00000206603 0 genome.wustl.edu 37 7 56123141 56123141 + RNA SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 56123141 56123141 C G SNP ENSG00000206603 ENST00000383876 human ensembl 70_37 +1 novel rna NULL NULL 1.000 - - - no_errors SNORA22 RFAM ENSG00000214581 0 genome.wustl.edu 37 16 34682135 34682135 + RNA SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 16 34682135 34682135 G A SNP ENSG00000214581 ENST00000568619 human ensembl 70_37 -1 known rna NULL NULL 0.977 - - - no_errors RP11-80F22.10 Clone_based_vega_gene ENSG00000215749 0 genome.wustl.edu 37 15 82934883 82934883 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 82934883 82934883 C T SNP ENSG00000215749 ENST00000559949 human ensembl 70_37 -1 putative missense c.697 p.E233K 0.782 NULL NULL - no_errors RP13-996F3.5 Clone_based_vega_gene ENSG00000228318 0 genome.wustl.edu 37 21 42813585 42813585 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 21 42813585 42813585 C T SNP ENSG00000228318 ENST00000411427 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AP001610.5 Clone_based_vega_gene ENSG00000228804 0 genome.wustl.edu 37 3 187451567 187451567 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 187451567 187451567 G A SNP ENSG00000228804 ENST00000449623 human ensembl 70_37 +1 putative missense c.385 p.A129T 0.015 NULL NULL - no_errors RP11-211G3.3 Clone_based_vega_gene ENSG00000259660 0 genome.wustl.edu 37 15 102312932 102312932 + RNA SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 102312932 102312932 C G SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000260005 0 genome.wustl.edu 37 17 79207075 79207075 + RNA SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 79207075 79207075 G C SNP ENSG00000260005 ENST00000575922 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors AC027601.1 Clone_based_vega_gene ENSG00000261586 0 genome.wustl.edu 37 12 52213324 52213324 + RNA SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 52213324 52213324 G A SNP ENSG00000261586 ENST00000562343 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors RP11-923I11.6 Clone_based_vega_gene ENSG00000262621 0 genome.wustl.edu 37 16 3536030 3536030 + RNA SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 16 3536030 3536030 C A SNP ENSG00000262621 ENST00000575785 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LA16c-306E5.2 Clone_based_vega_gene ENSG00000263126 0 genome.wustl.edu 37 16 67917781 67917781 + RNA SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 16 67917781 67917781 C G SNP ENSG00000263126 ENST00000572067 human ensembl 70_37 +1 known rna NULL NULL 0.850 - - - no_errors CTC-479C5.10 Clone_based_vega_gene ENSG00000266729 0 genome.wustl.edu 37 18 28923597 28923597 + RNA SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 18 28923597 28923597 C A SNP ENSG00000266729 ENST00000578119 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-534N16.1 Clone_based_vega_gene ENSG00000266937 0 genome.wustl.edu 37 16 67904664 67904664 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 16 67904664 67904664 C T SNP ENSG00000266937 ENST00000587481 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTC-479C5.16 Clone_based_vega_gene ENSG00000266937 0 genome.wustl.edu 37 16 67904825 67904825 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 16 67904825 67904825 C T SNP ENSG00000266937 ENST00000587481 human ensembl 70_37 +1 known rna NULL NULL 0.025 - - - no_errors CTC-479C5.16 Clone_based_vega_gene EPAS1 2034 genome.wustl.edu 37 2 46583934 46583934 + Silent SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 46583934 46583934 G C SNP EPAS1 ENST00000263734 human ensembl 70_37 +1 known silent c.441 p.L147 1.000 pfam_PAS_fold,smart_PAS,pfscan_PAS,tigrfam_PAS pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors EPAS1 HGNC EPHB4 2050 genome.wustl.edu 37 7 100404047 100404047 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 100404047 100404047 G C SNP EPHB4 ENST00000358173 human ensembl 70_37 -1 known missense c.2479 p.Q827E 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,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,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB4 HGNC EPHB6 2051 genome.wustl.edu 37 7 142563943 142563943 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 142563943 142563943 G A SNP EPHB6 ENST00000392957 human ensembl 70_37 +1 known missense c.1331 p.R444Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 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,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB6 HGNC EPPK1 83481 genome.wustl.edu 37 8 144943362 144943362 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 8 144943362 144943362 G A SNP EPPK1 ENST00000525985 human ensembl 70_37 -1 known missense c.4060 p.P1354S 1.000 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ESF1 51575 genome.wustl.edu 37 20 13763309 13763309 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 20 13763309 13763309 C G SNP ESF1 ENST00000202816 human ensembl 70_37 -1 known missense c.478 p.E160Q 0.568 NULL pfam_NUC153 - no_errors ESF1 HGNC ETNK1 55500 genome.wustl.edu 37 12 22811985 22811985 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 22811985 22811985 C T SNP ETNK1 ENST00000266517 human ensembl 70_37 +1 known missense c.721 p.H241Y 1.000 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom - no_errors ETNK1 HGNC EVA1A 84141 genome.wustl.edu 37 2 75720723 75720723 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 75720723 75720723 C T SNP EVA1A ENST00000233712 human ensembl 70_37 -1 known missense c.98 p.R33Q 1.000 NULL NULL - no_errors EVA1A HGNC FAHD2A 51011 genome.wustl.edu 37 2 96071357 96071357 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 96071357 96071357 G A SNP FAHD2A ENST00000233379 human ensembl 70_37 +1 known silent c.51 p.Q17 0.925 NULL pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel - no_errors FAHD2A HGNC FAM117B 150864 genome.wustl.edu 37 2 203622079 203622079 + Silent SNP A A G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 203622079 203622079 A G SNP FAM117B ENST00000392238 human ensembl 70_37 +1 known silent c.1248 p.T416 0.130 NULL NULL - no_errors FAM117B HGNC FAM120A 23196 genome.wustl.edu 37 9 96289484 96289484 + Nonsense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 9 96289484 96289484 C G SNP FAM120A ENST00000333936 human ensembl 70_37 +1 known nonsense c.1550 p.S517* 0.841 NULL NULL - no_errors FAM120A HGNC FAM13A 10144 genome.wustl.edu 37 4 89950737 89950737 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 4 89950737 89950737 C T SNP FAM13A ENST00000264344 human ensembl 70_37 -1 known missense c.91 p.E31K 0.007 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13A HGNC FAM153B 202134 genome.wustl.edu 37 5 175528087 175528087 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 175528087 175528087 G C SNP FAM153B ENST00000253490 human ensembl 70_37 +1 known missense c.600 p.Q200H 0.000 NULL prints_FAM153 - no_errors FAM153B HGNC FAM184A 79632 genome.wustl.edu 37 6 119297141 119297141 + Nonsense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 119297141 119297141 G A SNP FAM184A ENST00000338891 human ensembl 70_37 -1 known nonsense c.2524 p.Q842* 0.939 NULL superfamily_Prefoldin - no_errors FAM184A HGNC FAM217A 222826 genome.wustl.edu 37 6 4073577 4073577 + Splice_Site SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 4073577 4073577 C T SNP FAM217A ENST00000274673 human ensembl 70_37 -1 known splice_site c.235-1 e5-1 0.986 - - - no_errors FAM217A HGNC FAM81B 153643 genome.wustl.edu 37 5 94764306 94764306 + Splice_Site SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 94764306 94764306 G C SNP FAM81B ENST00000283357 human ensembl 70_37 +1 known splice_site c.657-1 e6-1 1.000 - - - no_errors FAM81B HGNC FAM83C 128876 genome.wustl.edu 37 20 33875489 33875489 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 20 33875489 33875489 G C SNP FAM83C ENST00000374408 human ensembl 70_37 -1 known missense c.1093 p.L365V 0.190 NULL pfam_DUF1669 - no_errors FAM83C HGNC FAM86JP 100125556 genome.wustl.edu 37 3 125635572 125635572 + RNA SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 125635572 125635572 G C SNP FAM86JP ENST00000485843 human ensembl 70_37 +1 known rna NULL NULL 0.025 - - - no_errors FAM86JP HGNC FAS 355 genome.wustl.edu 37 10 90773980 90773980 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 90773980 90773980 G A SNP FAS ENST00000355740 human ensembl 70_37 +1 known missense c.781 p.E261K 1.000 pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death pfam_Death,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_Fas_rcpt - no_errors FAS HGNC FAT3 120114 genome.wustl.edu 37 11 92616455 92616455 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 92616455 92616455 G A SNP FAT3 ENST00000298047 human ensembl 70_37 +1 known missense c.12833 p.R4278Q 1.000 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC FBXW12 285231 genome.wustl.edu 37 3 48415040 48415040 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 48415040 48415040 C T SNP FBXW12 ENST00000296438 human ensembl 70_37 +1 known missense c.131 p.S44L 0.000 pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like pfam_F-box_dom_cyclin-like,superfamily_Quino_amine_DH_bsu,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXW12 HGNC FCGBP 8857 genome.wustl.edu 37 19 40382372 40382372 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 40382372 40382372 C G SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known missense c.10514 p.G3505A 0.004 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC FEM1B 10116 genome.wustl.edu 37 15 68582061 68582061 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 68582061 68582061 C T SNP FEM1B ENST00000306917 human ensembl 70_37 +1 known missense c.365 p.S122L 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1B HGNC FGD3 89846 genome.wustl.edu 37 9 95795112 95795112 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 9 95795112 95795112 G A SNP FGD3 ENST00000337352 human ensembl 70_37 +1 known missense c.1742 p.R581K 0.738 pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD3 HGNC FILIP1 27145 genome.wustl.edu 37 6 76072464 76072464 + Nonsense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 76072464 76072464 G T SNP FILIP1 ENST00000237172 human ensembl 70_37 -1 known nonsense c.446 p.S149* 1.000 pfam_Cortactin-binding_p2_N pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC FLNC 2318 genome.wustl.edu 37 7 128498202 128498202 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 128498202 128498202 C T SNP FLNC ENST00000325888 human ensembl 70_37 +1 known missense c.7921 p.R2641W 0.923 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC FMR1 2332 genome.wustl.edu 37 X 147027065 147027065 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 147027065 147027065 C T SNP FMR1 ENST00000370475 human ensembl 70_37 +1 known missense c.1666 p.H556Y 1.000 pfam_Frag_X_MRP_fam pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FMR1 HGNC FOXD4 2298 genome.wustl.edu 37 9 117186 117186 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 9 117186 117186 G A SNP FOXD4 ENST00000382500 human ensembl 70_37 -1 known missense c.934 p.R312C 0.028 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4 HGNC FRMD4A 55691 genome.wustl.edu 37 10 13852835 13852835 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 13852835 13852835 C T SNP FRMD4A ENST00000357447 human ensembl 70_37 -1 known missense c.185 p.G62E 1.000 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC FRMD4B 23150 genome.wustl.edu 37 3 69277540 69277540 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 69277540 69277540 G A SNP FRMD4B ENST00000542259 human ensembl 70_37 -1 known missense c.410 p.S137L 0.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD4B HGNC FSD2 123722 genome.wustl.edu 37 15 83438506 83438506 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 83438506 83438506 C T SNP FSD2 ENST00000334574 human ensembl 70_37 -1 known missense c.1398 p.M466I 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin - no_errors FSD2 HGNC GAD1 2571 genome.wustl.edu 37 2 171702126 171702126 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 171702126 171702126 G A SNP GAD1 ENST00000358196 human ensembl 70_37 +1 known missense c.862 p.E288K 1.000 pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors GAD1 HGNC GAS2L3 283431 genome.wustl.edu 37 12 101017746 101017746 + Nonsense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 101017746 101017746 C G SNP GAS2L3 ENST00000266754 human ensembl 70_37 +1 known nonsense c.1163 p.S388* 0.026 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L3 HGNC GCC1 79571 genome.wustl.edu 37 7 127223154 127223154 + Missense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 127223154 127223154 G T SNP GCC1 ENST00000321407 human ensembl 70_37 -1 known missense c.1242 p.S414R 1.000 NULL pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP - no_errors GCC1 HGNC GEMIN4 50628 genome.wustl.edu 37 17 648334 648334 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 648334 648334 G A SNP GEMIN4 ENST00000319004 human ensembl 70_37 -1 known silent c.2949 p.F983 1.000 NULL NULL - no_errors GEMIN4 HGNC GGA1 26088 genome.wustl.edu 37 22 38021921 38021921 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 22 38021921 38021921 C T SNP GGA1 ENST00000343632 human ensembl 70_37 +1 known missense c.1058 p.S353L 1.000 NULL pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA1 HGNC GJB3 2707 genome.wustl.edu 37 1 35250432 35250432 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 35250432 35250432 C T SNP GJB3 ENST00000373362 human ensembl 70_37 +1 known silent c.69 p.I23 1.000 pfam_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin31 - no_errors GJB3 HGNC GLIPR1L1 256710 genome.wustl.edu 37 12 75756946 75756946 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 75756946 75756946 G A SNP GLIPR1L1 ENST00000378695 human ensembl 70_37 +1 known missense c.586 p.E196K 0.005 NULL pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen - no_errors GLIPR1L1 HGNC GLS2 27165 genome.wustl.edu 37 12 56872959 56872959 + Silent SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 56872959 56872959 C G SNP GLS2 ENST00000311966 human ensembl 70_37 -1 known silent c.411 p.V137 1.000 NULL pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase - no_errors GLS2 HGNC GNA13 10672 genome.wustl.edu 37 17 63052601 63052601 + Nonsense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 63052601 63052601 G T SNP GNA13 ENST00000439174 human ensembl 70_37 -1 known nonsense c.111 p.C37* 0.883 pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha12 - no_errors GNA13 HGNC GOLGA6L5 374650 genome.wustl.edu 37 15 85053254 85053254 + RNA SNP T T C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 85053254 85053254 T C SNP GOLGA6L5 ENST00000414190 human ensembl 70_37 -1 known rna NULL NULL 0.973 - - - no_errors GOLGA6L5 HGNC GOLGB1 2804 genome.wustl.edu 37 3 121416703 121416703 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 121416703 121416703 C G SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.2652 p.E884D 0.974 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC GPR98 84059 genome.wustl.edu 37 5 90055300 90055300 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 90055300 90055300 G A SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known silent c.12015 p.L4005 0.173 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC GPRC5B 51704 genome.wustl.edu 37 16 19884105 19884105 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 16 19884105 19884105 G A SNP GPRC5B ENST00000537135 human ensembl 70_37 -1 known silent c.141 p.F47 0.074 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5B HGNC GRK7 131890 genome.wustl.edu 37 3 141497720 141497720 + Silent SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 141497720 141497720 G T SNP GRK7 ENST00000264952 human ensembl 70_37 +1 known silent c.594 p.G198 0.136 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors GRK7 HGNC GTF2E2 2961 genome.wustl.edu 37 8 30437888 30437888 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 8 30437888 30437888 G A SNP GTF2E2 ENST00000355904 human ensembl 70_37 -1 known silent c.669 p.V223 1.000 pirsf_TFIIE-bsu pfam_TFIIE_bsu_DNA-bd,pirsf_TFIIE-bsu - no_errors GTF2E2 HGNC GTF2H4 2968 genome.wustl.edu 37 6 30880141 30880141 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 30880141 30880141 C T SNP GTF2H4 ENST00000259895 human ensembl 70_37 +1 known missense c.995 p.S332F 1.000 pfam_Tfb2,tigrfam_Tfb2 pfam_Tfb2,tigrfam_Tfb2 - no_errors GTF2H4 HGNC GTF2IRD2 84163 genome.wustl.edu 37 7 74211261 74211261 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 74211261 74211261 C T SNP GTF2IRD2 ENST00000405086 human ensembl 70_37 -1 known missense c.2590 p.E864K 0.885 superfamily_RNaseH-like_dom pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I - no_errors GTF2IRD2 HGNC HAL 3034 genome.wustl.edu 37 12 96374348 96374348 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 96374348 96374348 G A SNP HAL ENST00000261208 human ensembl 70_37 -1 known missense c.1505 p.T502M 1.000 pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH - no_errors HAL HGNC MROH2A 339766 genome.wustl.edu 37 2 234731551 234731551 + Silent SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 234731551 234731551 C G SNP HEATR7B1 ENST00000389758 human ensembl 70_37 +1 novel silent c.3891 p.L1297 0.006 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B1 HGNC MROH2B 133558 genome.wustl.edu 37 5 41012810 41012810 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 41012810 41012810 C T SNP HEATR7B2 ENST00000399564 human ensembl 70_37 -1 known missense c.3010 p.E1004K 0.999 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC HES1 3280 genome.wustl.edu 37 3 193854273 193854273 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 193854273 193854273 G A SNP HES1 ENST00000232424 human ensembl 70_37 +1 known missense c.104 p.R35K 1.000 pfam_HLH_dom,superfamily_HLH_dom,pfscan_HLH_dom pfam_Orange,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom - no_errors HES1 HGNC HFM1 164045 genome.wustl.edu 37 1 91844728 91844728 + Nonsense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 91844728 91844728 C T SNP HFM1 ENST00000370425 human ensembl 70_37 -1 known nonsense c.1050 p.W350* 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC HIST1H1B 3009 genome.wustl.edu 37 6 27834744 27834744 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 27834744 27834744 C G SNP HIST1H1B ENST00000331442 human ensembl 70_37 -1 known missense c.564 p.K188N 1.000 NULL pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1B HGNC HIVEP3 59269 genome.wustl.edu 37 1 42047016 42047016 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 42047016 42047016 G A SNP HIVEP3 ENST00000247584 human ensembl 70_37 -1 known silent c.3453 p.L1151 0.008 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC HKDC1 80201 genome.wustl.edu 37 10 71007183 71007183 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 71007183 71007183 G A SNP HKDC1 ENST00000354624 human ensembl 70_37 +1 known missense c.1099 p.D367N 1.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HKDC1 HGNC HLA-A 3105 genome.wustl.edu 37 6 29912342 29912342 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 29912342 29912342 G A SNP HLA-A ENST00000376806 human ensembl 70_37 +1 known missense c.961 p.V321M 0.000 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-A HGNC HLA-F 3134 genome.wustl.edu 37 6 29691562 29691562 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 29691562 29691562 G A SNP HLA-F ENST00000259951 human ensembl 70_37 +1 known silent c.192 p.P64 0.046 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-F HGNC HMCN1 83872 genome.wustl.edu 37 1 186017887 186017887 + Nonsense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 186017887 186017887 C T SNP HMCN1 ENST00000271588 human ensembl 70_37 +1 known nonsense c.6493 p.Q2165* 1.000 pfam_Ig_I-set,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC HMGB1P5 10354 genome.wustl.edu 37 3 22423477 22423477 + RNA SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 22423477 22423477 G C SNP HMGB1P5 ENST00000451497 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGB1P5 HGNC HOXB-AS5 360205 genome.wustl.edu 37 17 46801809 46801809 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 46801809 46801809 C T SNP HOXB-AS5 ENST00000422730 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors HOXB-AS5 HGNC HRAS 3265 genome.wustl.edu 37 11 533515 533515 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 533515 533515 C T SNP HRAS ENST00000311189 human ensembl 70_37 -1 known missense c.388 p.A130T 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors HRAS HGNC HSD17B10 3028 genome.wustl.edu 37 X 53459255 53459255 + Missense_Mutation SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 53459255 53459255 C A SNP HSD17B10 ENST00000168216 human ensembl 70_37 -1 known missense c.297 p.K99N 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect,prints_DHB_DH - no_errors HSD17B10 HGNC HSPA12B 116835 genome.wustl.edu 37 20 3723036 3723036 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 20 3723036 3723036 G A SNP HSPA12B ENST00000254963 human ensembl 70_37 +1 known missense c.247 p.E83K 1.000 NULL NULL - no_errors HSPA12B HGNC HTR2C 3358 genome.wustl.edu 37 X 113961366 113961366 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 113961366 113961366 G A SNP HTR2C ENST00000276198 human ensembl 70_37 +1 known silent c.21 p.A7 0.569 prints_5HT2C_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2C_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2C HGNC HTR2C 3358 genome.wustl.edu 37 X 114141909 114141909 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 114141909 114141909 G A SNP HTR2C ENST00000276198 human ensembl 70_37 +1 known missense c.1308 p.M436I 0.991 prints_5HT2C_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2C_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2C HGNC IGFN1 91156 genome.wustl.edu 37 1 201181630 201181630 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 201181630 201181630 G A SNP IGFN1 ENST00000335211 human ensembl 70_37 +1 known missense c.7609 p.E2537K 0.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGFN1 HGNC IGFN1 91156 genome.wustl.edu 37 1 201182516 201182516 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 201182516 201182516 G A SNP IGFN1 ENST00000335211 human ensembl 70_37 +1 known missense c.8495 p.R2832K 0.026 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGFN1 HGNC IL20 50604 genome.wustl.edu 37 1 207039221 207039221 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 207039221 207039221 C T SNP IL20 ENST00000367096 human ensembl 70_37 +1 known silent c.24 p.F8 0.001 prints_Interleukin-20 pfam_Interleukin-10/19/20/24,superfamily_4_helix_cytokine-like_core,smart_Interleukin-10/19/20/24,prints_Interleukin-20,prints_Interleukin-24 - no_errors IL20 HGNC IL5RA 3568 genome.wustl.edu 37 3 3139969 3139969 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 3139969 3139969 G A SNP IL5RA ENST00000256452 human ensembl 70_37 -1 known missense c.373 p.P125S 0.338 NULL pfam_IL6_recept-bd,superfamily_Fibronectin_type3 - no_errors IL5RA HGNC INADL 10207 genome.wustl.edu 37 1 62232113 62232113 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 62232113 62232113 G A SNP INADL ENST00000371158 human ensembl 70_37 +1 known missense c.352 p.D118N 1.000 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC INTS6 26512 genome.wustl.edu 37 13 51961658 51961658 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 13 51961658 51961658 G A SNP INTS6 ENST00000311234 human ensembl 70_37 -1 known missense c.758 p.S253L 0.990 NULL pfam_VWF_A,pfscan_VWF_A - no_errors INTS6 HGNC IPO13 9670 genome.wustl.edu 37 1 44422596 44422596 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 44422596 44422596 G A SNP IPO13 ENST00000372343 human ensembl 70_37 +1 known missense c.1219 p.E407K 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO13 HGNC IPO4 79711 genome.wustl.edu 37 14 24652265 24652265 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 14 24652265 24652265 G A SNP IPO4 ENST00000354464 human ensembl 70_37 -1 known missense c.2338 p.R780C 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors IPO4 HGNC ITGA4 3676 genome.wustl.edu 37 2 182339728 182339728 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 182339728 182339728 G C SNP ITGA4 ENST00000397033 human ensembl 70_37 +1 known missense c.361 p.E121Q 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ITGB3 3690 genome.wustl.edu 37 17 45369886 45369886 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 45369886 45369886 G A SNP ITGB3 ENST00000262017 human ensembl 70_37 +1 known missense c.1642 p.E548K 1.000 pirsf_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,pirsf_Integrin_bsu,prints_Integrin_bsu - no_errors ITGB3 HGNC ITPKA 3706 genome.wustl.edu 37 15 41795048 41795048 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 41795048 41795048 G A SNP ITPKA ENST00000260386 human ensembl 70_37 +1 known silent c.1173 p.R391 0.912 pfam_IPK pfam_IPK - no_errors ITPKA HGNC ITPR1 3708 genome.wustl.edu 37 3 4821245 4821245 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 4821245 4821245 G A SNP ITPR1 ENST00000302640 human ensembl 70_37 +1 known silent c.6258 p.S2086 0.043 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC KALRN 8997 genome.wustl.edu 37 3 124045013 124045013 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 124045013 124045013 G A SNP KALRN ENST00000360013 human ensembl 70_37 +1 known missense c.1273 p.E425K 1.000 smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors KALRN HGNC KAT7 11143 genome.wustl.edu 37 17 47869285 47869285 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 47869285 47869285 C T SNP KAT7 ENST00000259021 human ensembl 70_37 +1 known missense c.53 p.S18F 1.000 NULL pfam_MOZ_SAS,pfam_Znf_C2HC,superfamily_Acyl_CoA_acyltransferase - no_errors KAT7 HGNC KCNJ9 3765 genome.wustl.edu 37 1 160053898 160053898 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 160053898 160053898 G A SNP KCNJ9 ENST00000368088 human ensembl 70_37 +1 known silent c.78 p.E26 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.3 - no_errors KCNJ9 HGNC KDELR1 10945 genome.wustl.edu 37 19 48887664 48887664 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 48887664 48887664 C T SNP KDELR1 ENST00000330720 human ensembl 70_37 -1 known missense c.427 p.E143K 0.999 pfam_ER_ret_rcpt,prints_ER_ret_rcpt pfam_ER_ret_rcpt,prints_ER_ret_rcpt - no_errors KDELR1 HGNC KDM6A 7403 genome.wustl.edu 37 X 44949031 44949031 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 44949031 44949031 G A SNP KDM6A ENST00000382899 human ensembl 70_37 +1 known missense c.3613 p.E1205K 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC GLTSCR1L 23506 genome.wustl.edu 37 6 42796330 42796330 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 42796330 42796330 G C SNP KIAA0240 ENST00000314073 human ensembl 70_37 +1 known missense c.259 p.D87H 1.000 NULL NULL - no_errors KIAA0240 HGNC AREL1 9870 genome.wustl.edu 37 14 75150065 75150065 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 14 75150065 75150065 C T SNP KIAA0317 ENST00000356357 human ensembl 70_37 -1 known missense c.415 p.E139K 0.996 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,pfscan_Filamin/ABP280_repeat-like pfam_HECT,pfam_Filamin/ABP280_repeat-like,superfamily_HECT,superfamily_Ig_E-set,smart_HECT,pfscan_Filamin/ABP280_repeat-like,pfscan_HECT - no_errors KIAA0317 HGNC KIF7 374654 genome.wustl.edu 37 15 90189155 90189155 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 90189155 90189155 C T SNP KIF7 ENST00000394412 human ensembl 70_37 -1 known missense c.1891 p.E631K 0.998 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC KLF15 28999 genome.wustl.edu 37 3 126071245 126071245 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 126071245 126071245 G A SNP KLF15 ENST00000296233 human ensembl 70_37 -1 known missense c.521 p.S174L 0.005 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF15 HGNC KLF6 1316 genome.wustl.edu 37 10 3821734 3821734 + Silent SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 3821734 3821734 G C SNP KLF6 ENST00000497571 human ensembl 70_37 -1 known silent c.849 p.L283 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF6 HGNC KLF6 1316 genome.wustl.edu 37 10 3823849 3823849 + Missense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 3823849 3823849 G T SNP KLF6 ENST00000497571 human ensembl 70_37 -1 known missense c.660 p.H220Q 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF6 HGNC KLHDC4 54758 genome.wustl.edu 37 16 87734572 87734572 + RNA SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 16 87734572 87734572 G T SNP KLHDC4 ENST00000568346 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors KLHDC4 HGNC KLHL7 55975 genome.wustl.edu 37 7 23164752 23164752 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 23164752 23164752 G C SNP KLHL7 ENST00000339077 human ensembl 70_37 +1 known missense c.403 p.D135H 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL7 HGNC LAMA1 284217 genome.wustl.edu 37 18 7011412 7011412 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 18 7011412 7011412 C T SNP LAMA1 ENST00000389658 human ensembl 70_37 -1 known missense c.3574 p.E1192K 0.022 pfscan_Laminin_B_type_IV pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC LDHC 3948 genome.wustl.edu 37 11 18434310 18434310 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 18434310 18434310 G A SNP LDHC ENST00000280704 human ensembl 70_37 +1 known missense c.46 p.D16N 0.805 NULL pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHC HGNC LHCGR 3973 genome.wustl.edu 37 2 48935993 48935993 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 48935993 48935993 C T SNP LHCGR ENST00000477576 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LHCGR HGNC LIMK2 3985 genome.wustl.edu 37 22 31668686 31668686 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 22 31668686 31668686 G A SNP LIMK2 ENST00000331728 human ensembl 70_37 +1 known silent c.1554 p.L518 0.984 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK2 HGNC LINGO1 84894 genome.wustl.edu 37 15 77907516 77907516 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 77907516 77907516 C G SNP LINGO1 ENST00000355300 human ensembl 70_37 -1 known missense c.733 p.E245Q 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LINGO1 HGNC LLGL2 3993 genome.wustl.edu 37 17 73566530 73566530 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 73566530 73566530 G A SNP LLGL2 ENST00000392550 human ensembl 70_37 +1 known missense c.1976 p.R659Q 0.927 NULL pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL2 HGNC LMBR1L 55716 genome.wustl.edu 37 12 49498592 49498592 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 49498592 49498592 C T SNP LMBR1L ENST00000267102 human ensembl 70_37 -1 known missense c.268 p.E90K 1.000 pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt - no_errors LMBR1L HGNC LMBRD1 55788 genome.wustl.edu 37 6 70411822 70411822 + Silent SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 70411822 70411822 G T SNP LMBRD1 ENST00000370577 human ensembl 70_37 -1 known silent c.939 p.I313 1.000 NULL pfam_LMBR1-like_membr_prot - no_errors LMBRD1 HGNC LMOD3 56203 genome.wustl.edu 37 3 69171455 69171455 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 69171455 69171455 G A SNP LMOD3 ENST00000420581 human ensembl 70_37 -1 known missense c.83 p.S28F 1.000 pfam_Tropomodulin pfam_Tropomodulin - no_errors LMOD3 HGNC LOC100128714 100128714 genome.wustl.edu 37 15 26260632 26260632 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 26260632 26260632 C T SNP LOC100128714 ENST00000383019 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-1084I9.1 Clone_based_vega_gene LOC100128881 100128881 genome.wustl.edu 37 16 89784087 89784087 + RNA SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 16 89784087 89784087 G A SNP LOC100128881 ENST00000562298 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-368I7.2 Clone_based_vega_gene LOC387647 387647 genome.wustl.edu 37 10 29704295 29704295 + RNA SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 29704295 29704295 G C SNP LOC387647 ENST00000413405 human ensembl 70_37 +1 known rna NULL NULL 0.983 - - - no_errors RP11-534G20.3 Clone_based_vega_gene LOC646278 646278 genome.wustl.edu 37 15 29064065 29064065 + RNA SNP A A G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 29064065 29064065 A G SNP LOC646278 ENST00000563202 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors RP11-578F21.12 Clone_based_vega_gene LPCAT1 79888 genome.wustl.edu 37 5 1479738 1479738 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 1479738 1479738 C G SNP LPCAT1 ENST00000283415 human ensembl 70_37 -1 known missense c.814 p.E272Q 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors LPCAT1 HGNC LPPR2 64748 genome.wustl.edu 37 19 11472092 11472092 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 11472092 11472092 C T SNP LPPR2 ENST00000591608 human ensembl 70_37 +1 known silent c.516 p.L172 0.955 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR2 Uniprot_genename LRCH2 57631 genome.wustl.edu 37 X 114347796 114347796 + Nonsense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 114347796 114347796 G A SNP LRCH2 ENST00000317135 human ensembl 70_37 -1 known nonsense c.2281 p.Q761* 1.000 superfamily_CH-domain pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold-like,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH2 HGNC LRCH4 4034 genome.wustl.edu 37 7 100172787 100172787 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 100172787 100172787 G A SNP LRCH4 ENST00000310300 human ensembl 70_37 -1 known silent c.1995 p.F665 1.000 NULL pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH4 HGNC LRP1B 53353 genome.wustl.edu 37 2 141093401 141093401 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 141093401 141093401 C G SNP LRP1B ENST00000389484 human ensembl 70_37 -1 known missense c.11899 p.E3967Q 1.000 superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC LRRC37A2 474170 genome.wustl.edu 37 17 44626600 44626600 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 44626600 44626600 G A SNP LRRC37A2 ENST00000333412 human ensembl 70_37 +1 known silent c.4095 p.L1365 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A2 HGNC LRRTM3 347731 genome.wustl.edu 37 10 68687183 68687183 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 68687183 68687183 G C SNP LRRTM3 ENST00000361320 human ensembl 70_37 +1 known missense c.509 p.R170T 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM3 HGNC LZIC 84328 genome.wustl.edu 37 1 9992944 9992944 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 9992944 9992944 G A SNP LZIC ENST00000541052 human ensembl 70_37 -1 known silent c.412 p.L138 0.999 pfam_ICAT,superfamily_ICAT pfam_ICAT,superfamily_ICAT - no_errors LZIC HGNC MAEA 10296 genome.wustl.edu 37 4 1322572 1322572 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 4 1322572 1322572 C T SNP MAEA ENST00000503693 human ensembl 70_37 +1 known rna NULL NULL 0.043 - - - no_errors MAEA HGNC MALAT1 378938 genome.wustl.edu 37 11 65268821 65268821 + RNA SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 65268821 65268821 C G SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 0.615 - - - no_errors MALAT1 HGNC MALAT1 378938 genome.wustl.edu 37 11 65269862 65269862 + RNA SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 65269862 65269862 C G SNP MALAT1 ENST00000508832 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MALAT1 HGNC MALAT1 378938 genome.wustl.edu 37 11 65270585 65270585 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 65270585 65270585 C T SNP MALAT1 ENST00000508832 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MALAT1 HGNC MALAT1 378938 genome.wustl.edu 37 11 65271612 65271612 + RNA SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 65271612 65271612 C A SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MALAT1 HGNC MALAT1 378938 genome.wustl.edu 37 11 65271929 65271929 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 65271929 65271929 C T SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 0.313 - - - no_errors MALAT1 HGNC MALAT1 378938 genome.wustl.edu 37 11 65272219 65272219 + RNA SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 65272219 65272219 C G SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MALAT1 HGNC MALAT1 378938 genome.wustl.edu 37 11 65273023 65273023 + RNA SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 65273023 65273023 C G SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MALAT1 HGNC MALAT1 378938 genome.wustl.edu 37 11 65273470 65273470 + RNA SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 65273470 65273470 C G SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 0.638 - - - no_errors MALAT1 HGNC MALT1 10892 genome.wustl.edu 37 18 56401561 56401561 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 18 56401561 56401561 C G SNP MALT1 ENST00000348428 human ensembl 70_37 +1 known missense c.1423 p.P475A 0.998 pfam_Pept_C14_cat pfam_Pept_C14_cat,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_DEATH-like,smart_Ig_sub,smart_Ig_sub2,pfscan_Pept_C14_ICE_p20,pfscan_Ig-like - no_errors MALT1 HGNC MAP1A 4130 genome.wustl.edu 37 15 43813622 43813622 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 43813622 43813622 C T SNP MAP1A ENST00000382031 human ensembl 70_37 +1 novel missense c.665 p.S222F 1.000 NULL NULL - no_errors MAP1A HGNC MAP2 4133 genome.wustl.edu 37 2 210557640 210557640 + Missense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 210557640 210557640 G T SNP MAP2 ENST00000360351 human ensembl 70_37 +1 known missense c.746 p.G249V 0.571 NULL pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC MAP7D3 79649 genome.wustl.edu 37 X 135323400 135323400 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 135323400 135323400 G A SNP MAP7D3 ENST00000370663 human ensembl 70_37 -1 known missense c.400 p.R134W 0.157 NULL pfam_E-MAP-115 - no_errors MAP7D3 HGNC MAT2A 4144 genome.wustl.edu 37 2 85766425 85766425 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 85766425 85766425 C T SNP MAT2A ENST00000306434 human ensembl 70_37 +1 known silent c.15 p.L5 1.000 NULL pfam_S-AdoMet_synt_C,pfam_S-AdoMet_synt_central,pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase - no_errors MAT2A HGNC MCHR1 2847 genome.wustl.edu 37 22 41075624 41075624 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 22 41075624 41075624 C T SNP MCHR1 ENST00000249016 human ensembl 70_37 +1 known missense c.175 p.R59W 0.008 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH1_rcpt,prints_MCH_rcpt,prints_GPCR_Rhodpsn - no_errors MCHR1 HGNC MED18 54797 genome.wustl.edu 37 1 28661017 28661017 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 28661017 28661017 G A SNP MED18 ENST00000373842 human ensembl 70_37 +1 known missense c.163 p.E55K 1.000 pfam_Mediator_Med18_met/fun pfam_Mediator_Med18_met/fun - no_errors MED18 HGNC MFAP4 4239 genome.wustl.edu 37 17 19290087 19290087 + Missense_Mutation SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 19290087 19290087 C A SNP MFAP4 ENST00000395592 human ensembl 70_37 -1 known missense c.143 p.G48V 0.971 NULL pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors MFAP4 HGNC MFSD8 256471 genome.wustl.edu 37 4 128865102 128865102 + Missense_Mutation SNP A A G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 4 128865102 128865102 A G SNP MFSD8 ENST00000296468 human ensembl 70_37 -1 known missense c.244 p.S82P 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD8 HGNC MGA 23269 genome.wustl.edu 37 15 42058330 42058330 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 42058330 42058330 C G SNP MGA ENST00000219905 human ensembl 70_37 +1 known missense c.8050 p.L2684V 0.944 NULL pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC MIR4749 100616313 genome.wustl.edu 37 19 50357852 50357852 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 50357852 50357852 C T SNP MIR4749 ENST00000578197 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR4749 HGNC MIR600HG 81571 genome.wustl.edu 37 9 125873767 125873767 + RNA SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 9 125873767 125873767 C G SNP MIR600HG ENST00000449175 human ensembl 70_37 -1 known rna NULL NULL 0.071 - - - no_errors MIR600HG HGNC MIR600HG 81571 genome.wustl.edu 37 9 125874409 125874409 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 9 125874409 125874409 C T SNP MIR600HG ENST00000449175 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR600HG HGNC MLEC 9761 genome.wustl.edu 37 12 121125268 121125268 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 121125268 121125268 G C SNP MLEC ENST00000228506 human ensembl 70_37 +1 known missense c.169 p.E57Q 1.000 pfam_Malectin pfam_Malectin - no_errors MLEC HGNC MNDA 4332 genome.wustl.edu 37 1 158815707 158815707 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 158815707 158815707 G A SNP MNDA ENST00000368141 human ensembl 70_37 +1 known missense c.901 p.E301K 0.000 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors MNDA HGNC MOGS 7841 genome.wustl.edu 37 2 74689731 74689731 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 74689731 74689731 G A SNP MOGS ENST00000233616 human ensembl 70_37 -1 known silent c.1185 p.L395 0.998 pfam_Glycoside_hydrolase_63 pfam_Glycoside_hydrolase_63,superfamily_6-hairpin_glycosidase-like - no_errors MOGS HGNC MORF4L1 10933 genome.wustl.edu 37 15 79165368 79165368 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 79165368 79165368 G A SNP MORF4L1 ENST00000331268 human ensembl 70_37 +1 known silent c.9 p.P3 0.999 pirsf_EAF3/MRG15 pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,pirsf_EAF3/MRG15 - no_errors MORF4L1 HGNC MOSPD1 56180 genome.wustl.edu 37 X 134023170 134023170 + RNA SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 134023170 134023170 G A SNP MOSPD1 ENST00000480721 human ensembl 70_37 -1 known rna NULL NULL 0.953 - - - no_errors MOSPD1 HGNC MOV10 4343 genome.wustl.edu 37 1 113242368 113242368 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 113242368 113242368 G A SNP MOV10 ENST00000357443 human ensembl 70_37 +1 known missense c.2645 p.R882Q 1.000 NULL NULL - no_errors MOV10 HGNC MOV10L1 54456 genome.wustl.edu 37 22 50598170 50598170 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 22 50598170 50598170 G A SNP MOV10L1 ENST00000262794 human ensembl 70_37 +1 known missense c.3280 p.E1094K 1.000 NULL superfamily_NA-bd_OB-fold-like - no_errors MOV10L1 HGNC MSH4 4438 genome.wustl.edu 37 1 76280787 76280787 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 76280787 76280787 G A SNP MSH4 ENST00000263187 human ensembl 70_37 +1 known missense c.781 p.E261K 1.000 pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_connt pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH4 HGNC MST1R 4486 genome.wustl.edu 37 3 49924830 49924830 + Missense_Mutation SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 49924830 49924830 C A SNP MST1R ENST00000296474 human ensembl 70_37 -1 known missense c.4113 p.M1371I 0.000 pirsf_Tyr_kinase_HGF/MSP_rcpt pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MST1R HGNC MST1R 4486 genome.wustl.edu 37 3 49924919 49924919 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 49924919 49924919 C G SNP MST1R ENST00000296474 human ensembl 70_37 -1 known missense c.4024 p.E1342Q 0.587 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Prot_kinase_cat_dom pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MST1R HGNC MST1R 4486 genome.wustl.edu 37 3 49924925 49924925 + Nonsense_Mutation SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 49924925 49924925 C A SNP MST1R ENST00000296474 human ensembl 70_37 -1 known nonsense c.4018 p.E1340* 0.996 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Prot_kinase_cat_dom pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MST1R HGNC MUC16 94025 genome.wustl.edu 37 19 9070110 9070110 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 9070110 9070110 G C SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.17336 p.S5779C 0.001 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC16 94025 genome.wustl.edu 37 19 9070263 9070263 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 9070263 9070263 G C SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.17183 p.S5728C 0.003 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC16 94025 genome.wustl.edu 37 19 9071029 9071029 + Nonsense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 9071029 9071029 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known nonsense c.16417 p.Q5473* 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC16 94025 genome.wustl.edu 37 19 9071367 9071367 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 9071367 9071367 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.16079 p.S5360F 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC16 94025 genome.wustl.edu 37 19 9071445 9071445 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 9071445 9071445 G C SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.16001 p.S5334C 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC16 94025 genome.wustl.edu 37 19 9071580 9071580 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 9071580 9071580 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.15866 p.S5289L 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC16 94025 genome.wustl.edu 37 19 9071925 9071925 + Missense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 9071925 9071925 G T SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.15521 p.S5174Y 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC16 94025 genome.wustl.edu 37 19 9072414 9072414 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 9072414 9072414 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.15032 p.S5011L 0.010 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC16 94025 genome.wustl.edu 37 19 9072600 9072600 + Nonsense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 9072600 9072600 G T SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known nonsense c.14846 p.S4949* 0.001 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC16 94025 genome.wustl.edu 37 19 9072723 9072723 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 9072723 9072723 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.14723 p.S4908L 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC16 94025 genome.wustl.edu 37 19 9073656 9073656 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 9073656 9073656 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.13790 p.S4597F 0.018 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC16 94025 genome.wustl.edu 37 19 9073852 9073852 + Missense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 9073852 9073852 G T SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.13594 p.H4532N 0.004 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC4 4585 genome.wustl.edu 37 3 195507218 195507218 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 195507218 195507218 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.11233 p.L3745V 0.000 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 195511900 195511900 + Nonsense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 195511900 195511900 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known nonsense c.6551 p.S2184* 0.076 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 1360804 1360804 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 1360804 1360804 G A SNP MUM1 ENST00000344663 human ensembl 70_37 +1 known missense c.887 p.G296E 0.000 NULL pfam_PWWP - no_errors MUM1 HGNC MYH13 8735 genome.wustl.edu 37 17 10215384 10215384 + Nonsense_Mutation SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 10215384 10215384 C A SNP MYH13 ENST00000252172 human ensembl 70_37 -1 known nonsense c.4375 p.E1459* 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC MYO15B 80022 genome.wustl.edu 37 17 73620043 73620043 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 73620043 73620043 G A SNP MYO15B ENST00000293201 human ensembl 70_37 +1 known missense c.344 p.R115Q 0.245 pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom - no_errors MYO15B HGNC MYO7B 4648 genome.wustl.edu 37 2 128366440 128366440 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 128366440 128366440 C T SNP MYO7B ENST00000389524 human ensembl 70_37 +1 known missense c.2801 p.S934L 0.174 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC MYOC 4653 genome.wustl.edu 37 1 171621374 171621374 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 171621374 171621374 C T SNP MYOC ENST00000037502 human ensembl 70_37 -1 known silent c.378 p.R126 0.012 NULL pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors MYOC HGNC N4BP2 55728 genome.wustl.edu 37 4 40103779 40103779 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 4 40103779 40103779 C G SNP N4BP2 ENST00000261435 human ensembl 70_37 +1 known missense c.314 p.S105C 0.845 NULL pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C - no_errors N4BP2 HGNC N4BP2 55728 genome.wustl.edu 37 4 40103848 40103848 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 4 40103848 40103848 C T SNP N4BP2 ENST00000261435 human ensembl 70_37 +1 known missense c.383 p.S128L 0.027 NULL pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C - no_errors N4BP2 HGNC NENF 29937 genome.wustl.edu 37 1 212619333 212619333 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 212619333 212619333 C T SNP NENF ENST00000366988 human ensembl 70_37 +1 known silent c.504 p.I168 0.994 NULL pfam_Cyt_B5,superfamily_Cyt_B5 - no_errors NENF HGNC NFASC 23114 genome.wustl.edu 37 1 204939816 204939816 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 204939816 204939816 G A SNP NFASC ENST00000367172 human ensembl 70_37 +1 known missense c.1076 p.R359Q 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NFASC HGNC NID1 4811 genome.wustl.edu 37 1 236212096 236212096 + Missense_Mutation SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 236212096 236212096 C A SNP NID1 ENST00000264187 human ensembl 70_37 -1 known missense c.419 p.R140I 1.000 smart_Nidogen_extracell_dom pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC NONO 4841 genome.wustl.edu 37 X 70516458 70516458 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 70516458 70516458 G C SNP NONO ENST00000276079 human ensembl 70_37 +1 known missense c.694 p.D232H 1.000 pfam_NOPS pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors NONO HGNC NPY2R 4887 genome.wustl.edu 37 4 156135547 156135547 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 4 156135547 156135547 C T SNP NPY2R ENST00000329476 human ensembl 70_37 +1 known silent c.456 p.I152 0.992 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPFF_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors NPY2R HGNC NR2C2AP 126382 genome.wustl.edu 37 19 19313682 19313682 + Nonsense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 19313682 19313682 G C SNP NR2C2AP ENST00000331552 human ensembl 70_37 -1 known nonsense c.47 p.S16* 0.946 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like - no_errors NR2C2AP HGNC NR2E1 7101 genome.wustl.edu 37 6 108508587 108508587 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 108508587 108508587 G A SNP NR2E1 ENST00000368986 human ensembl 70_37 +1 known missense c.1078 p.E360K 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd 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_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR2E1 HGNC NR3C1 2908 genome.wustl.edu 37 5 142780248 142780248 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 142780248 142780248 G C SNP NR3C1 ENST00000231509 human ensembl 70_37 -1 known missense c.157 p.Q53E 1.000 pfam_Glcrtcd_rcpt pfam_Glcrtcd_rcpt,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_Glcrtcd_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR3C1 HGNC NRAS 4893 genome.wustl.edu 37 1 115256495 115256495 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 115256495 115256495 C T SNP NRAS ENST00000369535 human ensembl 70_37 -1 known missense c.216 p.M72I 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors NRAS HGNC NRBP1 29959 genome.wustl.edu 37 2 27656621 27656621 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 27656621 27656621 G C SNP NRBP1 ENST00000233557 human ensembl 70_37 +1 known missense c.292 p.E98Q 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_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 NRBP1 HGNC NUBPL 80224 genome.wustl.edu 37 14 32295840 32295840 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 14 32295840 32295840 G A SNP NUBPL ENST00000281081 human ensembl 70_37 +1 known missense c.613 p.V205M 1.000 pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1 - no_errors NUBPL HGNC NUGGC 389643 genome.wustl.edu 37 8 27886806 27886806 + Missense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 8 27886806 27886806 G T SNP NUGGC ENST00000341513 human ensembl 70_37 -1 known missense c.2131 p.Q711K 1.000 NULL pfam_Dynamin_GTPase - no_errors NUGGC HGNC NUMA1 4926 genome.wustl.edu 37 11 71719762 71719762 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 71719762 71719762 C T SNP NUMA1 ENST00000393695 human ensembl 70_37 -1 known missense c.5188 p.E1730K 0.923 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC NUP205 23165 genome.wustl.edu 37 7 135262642 135262642 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 135262642 135262642 C T SNP NUP205 ENST00000285968 human ensembl 70_37 +1 known silent c.747 p.L249 0.416 pfam_DUF3414 pfam_DUF3414 - no_errors NUP205 HGNC NUP205 23165 genome.wustl.edu 37 7 135286123 135286123 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 135286123 135286123 G A SNP NUP205 ENST00000285968 human ensembl 70_37 +1 known missense c.2380 p.E794K 1.000 pfam_DUF3414 pfam_DUF3414 - no_errors NUP205 HGNC ODF4 146852 genome.wustl.edu 37 17 8249090 8249090 + Missense_Mutation SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 8249090 8249090 C A SNP ODF4 ENST00000328248 human ensembl 70_37 +1 known missense c.694 p.P232T 0.000 NULL NULL - no_errors ODF4 HGNC OLIG2 10215 genome.wustl.edu 37 21 34399339 34399339 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 21 34399339 34399339 G A SNP OLIG2 ENST00000333337 human ensembl 70_37 +1 known missense c.169 p.G57S 0.035 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors OLIG2 HGNC OR4E2 26686 genome.wustl.edu 37 14 22134061 22134061 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 14 22134061 22134061 C G SNP OR4E2 ENST00000408935 human ensembl 70_37 +1 known missense c.765 p.I255M 0.987 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4E2 HGNC OR6W1P 89883 genome.wustl.edu 37 7 142760157 142760157 + RNA SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 142760157 142760157 G A SNP OR6W1P ENST00000496192 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors OR6W1P HGNC ORC1 4998 genome.wustl.edu 37 1 52859356 52859356 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 52859356 52859356 C G SNP ORC1 ENST00000371566 human ensembl 70_37 -1 known missense c.841 p.D281H 0.017 NULL pfam_BAH_dom,pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,pfam_DUF2075,smart_BAH_dom,smart_AAA+_ATPase,pfscan_BAH_dom - no_errors ORC1 HGNC P2RX1 5023 genome.wustl.edu 37 17 3806895 3806895 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 3806895 3806895 G A SNP P2RX1 ENST00000225538 human ensembl 70_37 -1 known silent c.555 p.F185 1.000 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X1_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX1 HGNC PALM2-AKAP2 445815 genome.wustl.edu 37 9 112899137 112899137 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 9 112899137 112899137 G C SNP PALM2-AKAP2 ENST00000374530 human ensembl 70_37 +1 known missense c.1313 p.R438T 0.132 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC PAPL 390928 genome.wustl.edu 37 19 39575922 39575922 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 39575922 39575922 C T SNP PAPL ENST00000331256 human ensembl 70_37 +1 known missense c.13 p.P5S 0.000 NULL pfam_Metallo_PEstase_dom,superfamily_Purple_acid_Pase-like_N - no_errors PAPL Uniprot_genename PCMTD2 55251 genome.wustl.edu 37 20 62904609 62904609 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 20 62904609 62904609 C T SNP PCMTD2 ENST00000308824 human ensembl 70_37 +1 known missense c.742 p.R248C 1.000 NULL pfam_PCMT - no_errors PCMTD2 HGNC PDCD6IP 10015 genome.wustl.edu 37 3 33855109 33855109 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 33855109 33855109 C G SNP PDCD6IP ENST00000457054 human ensembl 70_37 +1 known missense c.323 p.S108C 1.000 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfscan_BRO1_dom - no_errors PDCD6IP HGNC PDS5B 23047 genome.wustl.edu 37 13 33232590 33232590 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 13 33232590 33232590 C T SNP PDS5B ENST00000315596 human ensembl 70_37 +1 known missense c.419 p.S140L 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5B HGNC PEG3 5178 genome.wustl.edu 37 19 57328738 57328738 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 57328738 57328738 C T SNP PEG3 ENST00000326441 human ensembl 70_37 -1 known missense c.1072 p.E358K 0.886 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC PHF8 23133 genome.wustl.edu 37 X 54048782 54048782 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 54048782 54048782 G A SNP PHF8 ENST00000357988 human ensembl 70_37 -1 known missense c.311 p.S104F 0.989 superfamily_Znf_FYVE_PHD pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF8 HGNC PIGU 128869 genome.wustl.edu 37 20 33173287 33173287 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 20 33173287 33173287 G C SNP PIGU ENST00000217446 human ensembl 70_37 -1 known missense c.880 p.Q294E 1.000 pfam_PIG-U pfam_PIG-U - no_errors PIGU HGNC PIK3C2B 5287 genome.wustl.edu 37 1 204403022 204403022 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 204403022 204403022 C T SNP PIK3C2B ENST00000367187 human ensembl 70_37 -1 known missense c.3742 p.D1248N 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1624 p.E542K 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 PLCD3 113026 genome.wustl.edu 37 17 43196206 43196206 + Nonsense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 43196206 43196206 G A SNP PLCD3 ENST00000322765 human ensembl 70_37 -1 known nonsense c.889 p.Q297* 0.997 pfam_PLipase_C_EF-hand-like pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD3 HGNC PLEKHA4 57664 genome.wustl.edu 37 19 49341352 49341352 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 49341352 49341352 C T SNP PLEKHA4 ENST00000263265 human ensembl 70_37 -1 known missense c.1999 p.E667K 0.405 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA4 HGNC PLEKHH3 79990 genome.wustl.edu 37 17 40825805 40825805 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 40825805 40825805 G A SNP PLEKHH3 ENST00000591022 human ensembl 70_37 -1 known missense c.346 p.P116S 0.982 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH3 HGNC PLEKHH3 79990 genome.wustl.edu 37 17 40828531 40828531 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 40828531 40828531 G A SNP PLEKHH3 ENST00000591022 human ensembl 70_37 -1 known silent c.51 p.F17 1.000 NULL pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH3 HGNC PLIN4 729359 genome.wustl.edu 37 19 4513178 4513178 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 4513178 4513178 G C SNP PLIN4 ENST00000301286 human ensembl 70_37 -1 novel missense c.752 p.T251R 0.000 superfamily_Ankyrin_rpt-contain_dom pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC PLK3 1263 genome.wustl.edu 37 1 45270790 45270791 + RNA INS - - AAAG TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 45270790 45270791 - AAAG INS PLK3 ENST00000461769 human ensembl 70_37 +1 known rna NULL NULL 0.005:0.008 - - - no_errors PLK3 HGNC PLXNB3 5365 genome.wustl.edu 37 X 153032607 153032607 + Nonsense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 153032607 153032607 C T SNP PLXNB3 ENST00000538966 human ensembl 70_37 +1 known nonsense c.394 p.Q132* 0.903 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB3 HGNC PML 5371 genome.wustl.edu 37 15 74315241 74315241 + Silent SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 74315241 74315241 C G SNP PML ENST00000268058 human ensembl 70_37 +1 known silent c.675 p.L225 0.026 NULL pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC PNKP 11284 genome.wustl.edu 37 19 50365825 50365825 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 50365825 50365825 C T SNP PNKP ENST00000322344 human ensembl 70_37 -1 known silent c.906 p.K302 1.000 pfam_PNK3P,superfamily_HAD-like_dom,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA pfam_PNK3P,superfamily_HAD-like_dom,superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA - no_errors PNKP HGNC PPIH 10465 genome.wustl.edu 37 1 43125213 43125213 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 43125213 43125213 G A SNP PPIH ENST00000304979 human ensembl 70_37 +1 known missense c.176 p.G59E 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIH HGNC PPP1CB 5500 genome.wustl.edu 37 2 29001749 29001749 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 29001749 29001749 C G SNP PPP1CB ENST00000296122 human ensembl 70_37 +1 known missense c.259 p.L87V 1.000 pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP1CB HGNC PPP1R9A 55607 genome.wustl.edu 37 7 94539853 94539853 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 94539853 94539853 G A SNP PPP1R9A ENST00000289495 human ensembl 70_37 +1 known missense c.428 p.R143Q 1.000 NULL pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC PRAMEF1 65121 genome.wustl.edu 37 1 12854277 12854277 + Silent SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 12854277 12854277 C G SNP PRAMEF1 ENST00000332296 human ensembl 70_37 +1 known silent c.501 p.L167 0.000 NULL NULL - no_errors PRAMEF1 HGNC PREX1 57580 genome.wustl.edu 37 20 47258778 47258778 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 20 47258778 47258778 G C SNP PREX1 ENST00000371941 human ensembl 70_37 -1 known missense c.3703 p.L1235V 0.906 NULL pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC PROCR 10544 genome.wustl.edu 37 20 33764059 33764059 + Silent SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 20 33764059 33764059 G C SNP PROCR ENST00000216968 human ensembl 70_37 +1 known silent c.411 p.G137 0.998 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors PROCR HGNC PRR13 54458 genome.wustl.edu 37 12 53839824 53839824 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 53839824 53839824 C T SNP PRR13 ENST00000429243 human ensembl 70_37 +1 known missense c.428 p.S143F 1.000 NULL NULL - no_errors PRR13 HGNC PRR3 80742 genome.wustl.edu 37 6 30525185 30525185 + Nonsense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 30525185 30525185 G T SNP PRR3 ENST00000376560 human ensembl 70_37 +1 known nonsense c.64 p.E22* 0.973 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors PRR3 HGNC PTGES3L-AARSD1 100885850 genome.wustl.edu 37 17 41132190 41132190 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 41132190 41132190 G C SNP PTGES3L-AARSD1 ENST00000409399 human ensembl 70_37 -1 known missense c.10 p.L4V 0.000 NULL pfam_tRNA_SAD,pfam_CS_domain,pfam_Ala-tRNA-synth_IIc_N,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_HSP20-like_chaperone,smart_tRNA_SAD,pfscan_CS-like_domain,pfscan_Ala-tRNA-synth_IIc_core - no_errors PTGES3L-AARSD1 HGNC PTK2B 2185 genome.wustl.edu 37 8 27279825 27279825 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 8 27279825 27279825 G A SNP PTK2B ENST00000346049 human ensembl 70_37 +1 known missense c.476 p.R159Q 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_cat_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2B HGNC PURA 5813 genome.wustl.edu 37 5 139494400 139494400 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 139494400 139494400 G C SNP PURA ENST00000331327 human ensembl 70_37 +1 known missense c.634 p.E212Q 1.000 pfam_PUR_DNA_RNA-bd pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd - no_errors PURA HGNC PVRL1 5818 genome.wustl.edu 37 11 119549182 119549182 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 119549182 119549182 C T SNP PVRL1 ENST00000264025 human ensembl 70_37 -1 known missense c.373 p.E125K 1.000 pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PVRL1 HGNC QARS 5859 genome.wustl.edu 37 3 49138860 49138860 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 49138860 49138860 G A SNP QARS ENST00000420147 human ensembl 70_37 -1 known missense c.772 p.P258S 1.000 NULL pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Gln-tRNA-synth_Ib_RNA-bd_2 - no_errors QARS HGNC RAB13 5872 genome.wustl.edu 37 1 153955952 153955952 + RNA SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 153955952 153955952 C G SNP RAB13 ENST00000462680 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RAB13 HGNC RAB35 11021 genome.wustl.edu 37 12 120535031 120535031 + Nonsense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 120535031 120535031 G A SNP RAB35 ENST00000432953 human ensembl 70_37 -1 known nonsense c.19 p.Q7* 1.000 NULL NULL - no_errors RAB35 HGNC RAD54L 8438 genome.wustl.edu 37 1 46715746 46715746 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 46715746 46715746 G C SNP RAD54L ENST00000371975 human ensembl 70_37 +1 known missense c.165 p.L55F 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_Rad54_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L HGNC RALGDS 5900 genome.wustl.edu 37 9 135985048 135985048 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 9 135985048 135985048 G A SNP RALGDS ENST00000542690 human ensembl 70_37 -1 known silent c.762 p.S254 0.000 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_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RALGDS HGNC RBM27 54439 genome.wustl.edu 37 5 145643181 145643181 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 145643181 145643181 G A SNP RBM27 ENST00000265271 human ensembl 70_37 +1 known missense c.2318 p.G773E 1.000 NULL pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC REL 5966 genome.wustl.edu 37 2 61149532 61149532 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 61149532 61149532 G A SNP REL ENST00000295025 human ensembl 70_37 +1 known missense c.1722 p.M574I 0.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors REL HGNC RGS7 6000 genome.wustl.edu 37 1 241099999 241099999 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 241099999 241099999 C T SNP RGS7 ENST00000407727 human ensembl 70_37 -1 known silent c.234 p.A78 0.310 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS7 HGNC RGSL1 353299 genome.wustl.edu 37 1 182523782 182523782 + Nonsense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 182523782 182523782 C T SNP RGSL1 ENST00000294854 human ensembl 70_37 +1 known nonsense c.3151 p.Q1051* 0.001 NULL pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam - no_errors RGSL1 HGNC RIMS1 22999 genome.wustl.edu 37 6 72678707 72678707 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 72678707 72678707 G A SNP RIMS1 ENST00000521978 human ensembl 70_37 +1 known silent c.186 p.A62 1.000 superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC RIMS1 22999 genome.wustl.edu 37 6 72892124 72892124 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 72892124 72892124 G A SNP RIMS1 ENST00000521978 human ensembl 70_37 +1 known missense c.950 p.R317Q 1.000 NULL pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC RIPK4 54101 genome.wustl.edu 37 21 43171267 43171267 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 21 43171267 43171267 C T SNP RIPK4 ENST00000352483 human ensembl 70_37 -1 known missense c.613 p.D205N 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ankyrin_rpt,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK4 HGNC RPH3A 22895 genome.wustl.edu 37 12 113285528 113285528 + Silent SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 113285528 113285528 C A SNP RPH3A ENST00000389385 human ensembl 70_37 +1 known silent c.111 p.P37 0.018 pfam_Rabphilin3A_effector_Zn-bd pfam_C2_Ca-dep,pfam_Rabphilin3A_effector_Zn-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom - no_errors RPH3A HGNC RPL23AP82 284942 genome.wustl.edu 37 22 51237617 51237617 + RNA SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 22 51237617 51237617 C G SNP RPL23AP82 ENST00000462238 human ensembl 70_37 +1 known rna NULL NULL 0.597 - - - no_errors AC002055.4 Clone_based_vega_gene RPS21 6227 genome.wustl.edu 37 20 60962962 60962962 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 20 60962962 60962962 C T SNP RPS21 ENST00000370592 human ensembl 70_37 +1 known missense c.178 p.R60C 1.000 pfam_Ribosomal_S21e,pirsf_Ribosomal_S21e pfam_Ribosomal_S21e,pirsf_Ribosomal_S21e - no_errors RPS21 HGNC RSBN1 54665 genome.wustl.edu 37 1 114308986 114308986 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 114308986 114308986 G C SNP RSBN1 ENST00000261441 human ensembl 70_37 -1 known missense c.2025 p.I675M 1.000 NULL NULL - no_errors RSBN1 HGNC RSBN1L 222194 genome.wustl.edu 37 7 77325884 77325884 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 77325884 77325884 C T SNP RSBN1L ENST00000334955 human ensembl 70_37 +1 known missense c.98 p.S33F 0.180 NULL NULL - no_errors RSBN1L HGNC RSPH4A 345895 genome.wustl.edu 37 6 116938064 116938064 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 116938064 116938064 C G SNP RSPH4A ENST00000229554 human ensembl 70_37 +1 known missense c.278 p.S93C 0.000 NULL pfam_Radial_spoke - no_errors RSPH4A HGNC RTL1 388015 genome.wustl.edu 37 14 101349520 101349520 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 14 101349520 101349520 G A SNP RTL1 ENST00000534062 human ensembl 70_37 -1 known missense c.1606 p.R536C 0.988 NULL pfam_Retrotrans_gag,superfamily_Peptidase_aspartic - no_errors RTL1 HGNC RTN2 6253 genome.wustl.edu 37 19 45997562 45997562 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 45997562 45997562 C T SNP RTN2 ENST00000245923 human ensembl 70_37 -1 known missense c.676 p.D226N 0.975 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN2 HGNC RXFP4 339403 genome.wustl.edu 37 1 155912316 155912316 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 155912316 155912316 G A SNP RXFP4 ENST00000368318 human ensembl 70_37 +1 known silent c.816 p.V272 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors RXFP4 HGNC RYR3 6263 genome.wustl.edu 37 15 33927942 33927942 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 33927942 33927942 C T SNP RYR3 ENST00000389232 human ensembl 70_37 +1 known silent c.3303 p.V1101 0.003 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC SCAMP3 10067 genome.wustl.edu 37 1 155230178 155230178 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 155230178 155230178 C G SNP SCAMP3 ENST00000302631 human ensembl 70_37 -1 known missense c.331 p.E111Q 0.998 NULL pfam_SCAMP - no_errors SCAMP3 HGNC SCAND2P 54581 genome.wustl.edu 37 15 85177859 85177859 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 85177859 85177859 C T SNP SCAND2 ENST00000427525 human ensembl 70_37 +1 known rna NULL NULL 0.920 - - - no_errors SCAND2 HGNC SCLT1 132320 genome.wustl.edu 37 4 129857841 129857841 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 4 129857841 129857841 C T SNP SCLT1 ENST00000281142 human ensembl 70_37 -1 known missense c.1798 p.E600K 0.994 NULL NULL - no_errors SCLT1 HGNC SCN2B 6327 genome.wustl.edu 37 11 118038997 118038997 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 118038997 118038997 C T SNP SCN2B ENST00000278947 human ensembl 70_37 -1 known missense c.251 p.R84H 1.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like,prints_Myelin_P0 - no_errors SCN2B HGNC SCN7A 6332 genome.wustl.edu 37 2 167289033 167289033 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 167289033 167289033 G C SNP SCN7A ENST00000409855 human ensembl 70_37 -1 known missense c.2387 p.S796C 0.947 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC SDHAP1 255812 genome.wustl.edu 37 3 195698251 195698251 + RNA SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 195698251 195698251 C G SNP SDHAP1 ENST00000427841 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SDHAP1 HGNC SDHAP1 255812 genome.wustl.edu 37 3 195713453 195713453 + RNA SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 195713453 195713453 C A SNP SDHAP1 ENST00000413474 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SDHAP1 HGNC SDHB 6390 genome.wustl.edu 37 1 17350561 17350561 + Silent SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 17350561 17350561 G C SNP SDHB ENST00000375499 human ensembl 70_37 -1 known silent c.549 p.L183 0.741 superfamily_Helical_ferredxn,tigrfam_Succ_DH/fum_Rdtase_Fe-S superfamily_Helical_ferredxn,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Succ_DH/fum_Rdtase_Fe-S - no_errors SDHB HGNC SDR39U1 56948 genome.wustl.edu 37 14 24909401 24909401 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 14 24909401 24909401 C T SNP SDR39U1 ENST00000399395 human ensembl 70_37 -1 known missense c.770 p.R257H 1.000 pfam_DUF1731_C,tigrfam_Sugar_nucleotide_Epase_put pfam_DUF1731_C,pfam_Epimerase_deHydtase,tigrfam_Sugar_nucleotide_Epase_put - no_errors SDR39U1 HGNC SEBOX 645832 genome.wustl.edu 37 17 26692212 26692212 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 26692212 26692212 G A SNP SEBOX ENST00000431468 human ensembl 70_37 -1 known silent c.40 p.L14 0.327 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SEBOX HGNC SEMA4A 64218 genome.wustl.edu 37 1 156131245 156131245 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 156131245 156131245 G A SNP SEMA4A ENST00000355014 human ensembl 70_37 +1 known missense c.919 p.A307T 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag 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 SEMA4A HGNC SEMA4F 10505 genome.wustl.edu 37 2 74902895 74902895 + Missense_Mutation SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 74902895 74902895 C A SNP SEMA4F ENST00000357877 human ensembl 70_37 +1 known missense c.1502 p.S501Y 0.937 superfamily_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag 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 SEMA4F HGNC SF3B2 10992 genome.wustl.edu 37 11 65830913 65830913 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 65830913 65830913 G A SNP SF3B2 ENST00000322535 human ensembl 70_37 +1 known missense c.2128 p.E710K 1.000 NULL pfam_DUF382,pfam_PSP,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_PSP,pfscan_SAP_DNA-bd - no_errors SF3B2 HGNC SFMBT1 51460 genome.wustl.edu 37 3 52939266 52939266 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 52939266 52939266 G A SNP SFMBT1 ENST00000358080 human ensembl 70_37 -1 known silent c.2487 p.L829 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT1 HGNC SGCA 6442 genome.wustl.edu 37 17 48246517 48246517 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 48246517 48246517 G A SNP SGCA ENST00000262018 human ensembl 70_37 +1 known missense c.649 p.D217N 0.567 pfam_Sarcoglycan_2 pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg - no_errors SGCA HGNC SGOL1 151648 genome.wustl.edu 37 3 20225407 20225407 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 20225407 20225407 G C SNP SGOL1 ENST00000263753 human ensembl 70_37 -1 known missense c.113 p.S38C 0.195 pfam_Shugoshin_N pfam_Shugoshin_N,pfam_Shugoshin_C - no_errors SGOL1 HGNC SGPL1 8879 genome.wustl.edu 37 10 72633155 72633155 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 72633155 72633155 G A SNP SGPL1 ENST00000373202 human ensembl 70_37 +1 known silent c.1107 p.K369 1.000 pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SGPL1 HGNC SLC22A23 63027 genome.wustl.edu 37 6 3287169 3287169 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 3287169 3287169 G A SNP SLC22A23 ENST00000406686 human ensembl 70_37 -1 known silent c.1470 p.L490 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A23 HGNC SLC26A4 5172 genome.wustl.edu 37 7 107303837 107303837 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 107303837 107303837 C T SNP SLC26A4 ENST00000265715 human ensembl 70_37 +1 known silent c.261 p.D87 0.668 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A4 HGNC SLC27A2 11001 genome.wustl.edu 37 15 50489719 50489719 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 50489719 50489719 G C SNP SLC27A2 ENST00000267842 human ensembl 70_37 +1 known missense c.501 p.E167D 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A2 HGNC SLC34A2 10568 genome.wustl.edu 37 4 25677984 25677984 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 4 25677984 25677984 C T SNP SLC34A2 ENST00000382051 human ensembl 70_37 +1 known silent c.1686 p.V562 0.005 tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt - no_errors SLC34A2 HGNC SLC39A12 221074 genome.wustl.edu 37 10 18331702 18331702 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 18331702 18331702 G A SNP SLC39A12 ENST00000377369 human ensembl 70_37 +1 known silent c.2016 p.L672 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A12 HGNC SLC4A9 83697 genome.wustl.edu 37 5 139745485 139745485 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 139745485 139745485 C T SNP SLC4A9 ENST00000230993 human ensembl 70_37 +1 known missense c.1849 p.R617C 0.970 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A9 HGNC SLC5A9 200010 genome.wustl.edu 37 1 48703375 48703375 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 48703375 48703375 C T SNP SLC5A9 ENST00000236495 human ensembl 70_37 +1 known silent c.1392 p.V464 0.511 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A9 HGNC SLC6A7 6534 genome.wustl.edu 37 5 149576737 149576737 + Nonsense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 149576737 149576737 G A SNP SLC6A7 ENST00000230671 human ensembl 70_37 +1 known nonsense c.482 p.W161* 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A7 HGNC SLFN12L 100506736 genome.wustl.edu 37 17 33806541 33806541 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 33806541 33806541 C T SNP SLFN12L ENST00000449046 human ensembl 70_37 -1 known missense c.781 p.E261K 0.000 pfam_ATPase_AAA-4 pfam_ATPase_AAA-4 - no_errors SLFN12L HGNC SMARCA5 8467 genome.wustl.edu 37 4 144459762 144459762 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 4 144459762 144459762 C T SNP SMARCA5 ENST00000283131 human ensembl 70_37 +1 known silent c.1515 p.F505 1.000 pfam_HDA_complex_subunit-2/3,pfscan_Helicase_C pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA5 HGNC SMARCB1 6598 genome.wustl.edu 37 22 24158946 24158946 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 22 24158946 24158946 C T SNP SMARCB1 ENST00000477836 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SMARCB1 HGNC SMARCB1 6598 genome.wustl.edu 37 22 24159068 24159068 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 22 24159068 24159068 C G SNP SMARCB1 ENST00000263121 human ensembl 70_37 +1 known missense c.740 p.S247C 1.000 pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx - no_errors SMARCB1 HGNC SND1 27044 genome.wustl.edu 37 7 127447549 127447549 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 127447549 127447549 G C SNP SND1 ENST00000354725 human ensembl 70_37 +1 known missense c.1164 p.K388N 1.000 pfam_Staphylococcal_nuclease,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococcal_nuclease pfam_Staphylococcal_nuclease,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococcal_nuclease - no_errors SND1 HGNC SNHG14 0 genome.wustl.edu 37 15 25458629 25458629 + RNA SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 25458629 25458629 G A SNP SNHG14 ENST00000424208 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC SOX7 83595 genome.wustl.edu 37 8 10689235 10689235 + Nonsense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 8 10689235 10689235 G A SNP SOX7 ENST00000553390 human ensembl 70_37 -1 known nonsense c.241 p.Q81* 1.000 NULL pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_superfamily - no_errors SOX7 HGNC SPATA5 166378 genome.wustl.edu 37 4 123949532 123949532 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 4 123949532 123949532 G A SNP SPATA5 ENST00000274008 human ensembl 70_37 +1 known silent c.2061 p.L687 0.996 pfam_ATPase_AAA_core,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase - no_errors SPATA5 HGNC SPEG 10290 genome.wustl.edu 37 2 220312722 220312722 + Missense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 220312722 220312722 G T SNP SPEG ENST00000312358 human ensembl 70_37 +1 novel missense c.842 p.R281M 0.988 NULL pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 SPEG HGNC SPHKAP 80309 genome.wustl.edu 37 2 228882203 228882203 + Nonsense_Mutation SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 228882203 228882203 C A SNP SPHKAP ENST00000392056 human ensembl 70_37 -1 known nonsense c.3367 p.E1123* 1.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC SPHKAP 80309 genome.wustl.edu 37 2 228882252 228882252 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 228882252 228882252 C T SNP SPHKAP ENST00000392056 human ensembl 70_37 -1 known silent c.3318 p.L1106 0.017 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC SRC 6714 genome.wustl.edu 37 20 36033336 36033336 + RNA SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 20 36033336 36033336 G T SNP SRC ENST00000477066 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SRC HGNC SREBF2 6721 genome.wustl.edu 37 22 42294721 42294721 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 22 42294721 42294721 G A SNP SREBF2 ENST00000361204 human ensembl 70_37 +1 known missense c.2674 p.D892N 0.999 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors SREBF2 HGNC SSX5 6758 genome.wustl.edu 37 X 48047168 48047168 + Splice_Site SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 48047168 48047168 C A SNP SSX5 ENST00000311798 human ensembl 70_37 -1 known splice_site c.590-1 e7-1 0.003 - - - no_errors SSX5 HGNC ST6GALNAC6 30815 genome.wustl.edu 37 9 130652958 130652958 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 9 130652958 130652958 C T SNP ST6GALNAC6 ENST00000291839 human ensembl 70_37 -1 known missense c.662 p.R221Q 0.250 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC6 HGNC STAB1 23166 genome.wustl.edu 37 3 52553336 52553336 + Silent SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 52553336 52553336 G C SNP STAB1 ENST00000321725 human ensembl 70_37 +1 known silent c.5091 p.V1697 0.996 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC STAB1 23166 genome.wustl.edu 37 3 52553417 52553417 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 52553417 52553417 G A SNP STAB1 ENST00000321725 human ensembl 70_37 +1 known silent c.5172 p.P1724 0.000 superfamily_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC STAC2 342667 genome.wustl.edu 37 17 37370527 37370527 + Silent SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 37370527 37370527 G C SNP STAC2 ENST00000333461 human ensembl 70_37 -1 known silent c.900 p.L300 1.000 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox pfam_SH3_2,pfam_SH3_domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_SH3_domain,prints_p67phox - no_errors STAC2 HGNC STAP2 55620 genome.wustl.edu 37 19 4324496 4324496 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 4324496 4324496 C T SNP STAP2 ENST00000314714 human ensembl 70_37 -1 known missense c.1241 p.R414K 0.738 NULL pfscan_SH2 - no_errors STAP2 HGNC STAU2 27067 genome.wustl.edu 37 8 74333628 74333628 + Missense_Mutation SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 8 74333628 74333628 C A SNP STAU2 ENST00000524300 human ensembl 70_37 -1 known missense c.1692 p.K564N 1.000 NULL pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd - no_errors STAU2 HGNC STK11IP 114790 genome.wustl.edu 37 2 220473122 220473122 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 220473122 220473122 G A SNP STK11IP ENST00000456909 human ensembl 70_37 +1 novel missense c.1573 p.E525K 0.998 NULL NULL - no_errors STK11IP HGNC STK17A 9263 genome.wustl.edu 37 7 43663453 43663453 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 43663453 43663453 G A SNP STK17A ENST00000319357 human ensembl 70_37 +1 known missense c.886 p.D296N 0.998 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_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 STK17A HGNC STK3 6788 genome.wustl.edu 37 8 99718742 99718742 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 8 99718742 99718742 C G SNP STK3 ENST00000419617 human ensembl 70_37 -1 known missense c.637 p.E213Q 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH,pfscan_Prot_kinase_cat_dom - no_errors STK3 HGNC STX8 9482 genome.wustl.edu 37 17 9448566 9448566 + Silent SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 9448566 9448566 G C SNP STX8 ENST00000306357 human ensembl 70_37 -1 known silent c.246 p.L82 0.000 NULL pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX8 HGNC SUFU 51684 genome.wustl.edu 37 10 104353761 104353761 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 10 104353761 104353761 C T SNP SUFU ENST00000369902 human ensembl 70_37 +1 known missense c.695 p.P232L 1.000 pfam_SUFU_domain,pirsf_Suppressor_of_fused_protein pfam_SUFU_C,pfam_SUFU_domain,pirsf_Suppressor_of_fused_protein - no_errors SUFU HGNC SUMF1 285362 genome.wustl.edu 37 3 4508728 4508728 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 4508728 4508728 G A SNP SUMF1 ENST00000448413 human ensembl 70_37 -1 known missense c.202 p.H68Y 1.000 NULL pfam_FGE_dom,superfamily_C-type_lectin_fold - no_errors SUMF1 HGNC SUN5 140732 genome.wustl.edu 37 20 31573703 31573703 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 20 31573703 31573703 C T SNP SUN5 ENST00000356173 human ensembl 70_37 -1 known missense c.736 p.V246M 0.517 pfam_Sad1_UNC_C,superfamily_Galactose-bd-like pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN5 HGNC SYCP1 6847 genome.wustl.edu 37 1 115398161 115398161 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 115398161 115398161 C G SNP SYCP1 ENST00000369518 human ensembl 70_37 +1 known missense c.76 p.Q26E 1.000 NULL pfam_SCP-1 - no_errors SYCP1 HGNC SYDE2 84144 genome.wustl.edu 37 1 85630294 85630294 + Silent SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 85630294 85630294 G C SNP SYDE2 ENST00000341460 human ensembl 70_37 -1 known silent c.3000 p.V1000 1.000 superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE2 HGNC SYNE2 23224 genome.wustl.edu 37 14 64610593 64610593 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 14 64610593 64610593 G A SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.15410 p.R5137K 1.000 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC SYT3 84258 genome.wustl.edu 37 19 51132566 51132566 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 51132566 51132566 G A SNP SYT3 ENST00000338916 human ensembl 70_37 -1 known silent c.1266 p.I422 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT3 HGNC TADA2B 93624 genome.wustl.edu 37 4 7045505 7045505 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 4 7045505 7045505 G A SNP TADA2B ENST00000310074 human ensembl 70_37 +1 known missense c.199 p.E67K 1.000 superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Myb-like_dom pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors TADA2B HGNC TAF1 6872 genome.wustl.edu 37 X 70618466 70618466 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 70618466 70618466 G A SNP TAF1 ENST00000449580 human ensembl 70_37 +1 known missense c.3662 p.R1221Q 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC TAF4 6874 genome.wustl.edu 37 20 60585161 60585161 + Nonsense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 20 60585161 60585161 G A SNP TAF4 ENST00000252996 human ensembl 70_37 -1 known nonsense c.1702 p.Q568* 1.000 NULL pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4 HGNC TBC1D1 23216 genome.wustl.edu 37 4 38134784 38134784 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 4 38134784 38134784 C T SNP TBC1D1 ENST00000261439 human ensembl 70_37 +1 known missense c.3212 p.S1071F 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D1 HGNC TBC1D21 161514 genome.wustl.edu 37 15 74166088 74166088 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 74166088 74166088 G A SNP TBC1D21 ENST00000300504 human ensembl 70_37 +1 known missense c.38 p.R13K 0.062 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D21 HGNC TBC1D9 23158 genome.wustl.edu 37 4 141578289 141578289 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 4 141578289 141578289 C T SNP TBC1D9 ENST00000442267 human ensembl 70_37 -1 known missense c.2299 p.E767K 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9 HGNC TCF20 6942 genome.wustl.edu 37 22 42606778 42606778 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 22 42606778 42606778 C T SNP TCF20 ENST00000359486 human ensembl 70_37 -1 known missense c.4534 p.E1512K 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC TCN2 6948 genome.wustl.edu 37 22 31011416 31011416 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 22 31011416 31011416 G A SNP TCN2 ENST00000215838 human ensembl 70_37 +1 known missense c.709 p.E237K 0.587 pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors TCN2 HGNC TCOF1 6949 genome.wustl.edu 37 5 149754645 149754645 + Silent SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 149754645 149754645 G T SNP TCOF1 ENST00000451292 human ensembl 70_37 +1 known silent c.1407 p.G469 0.000 pfam_TCS_treacle pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC TCOF1 6949 genome.wustl.edu 37 5 149754679 149754679 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 149754679 149754679 G A SNP TCOF1 ENST00000451292 human ensembl 70_37 +1 known missense c.1441 p.E481K 0.997 pfam_TCS_treacle pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC TCTEX1D4 343521 genome.wustl.edu 37 1 45271718 45271718 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 45271718 45271718 G A SNP TCTEX1D4 ENST00000339355 human ensembl 70_37 -1 known missense c.623 p.S208L 0.912 pfam_Tctex pfam_Tctex - no_errors TCTEX1D4 HGNC TEAD4 7004 genome.wustl.edu 37 12 3120170 3120170 + Missense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 3120170 3120170 G T SNP TEAD4 ENST00000359864 human ensembl 70_37 +1 known missense c.227 p.G76V 1.000 pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD4 HGNC TECPR2 9895 genome.wustl.edu 37 14 102873791 102873791 + Silent SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 14 102873791 102873791 G C SNP TECPR2 ENST00000359520 human ensembl 70_37 +1 known silent c.336 p.G112 0.760 superfamily_WD40_repeat_dom pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR - no_errors TECPR2 HGNC TF 7018 genome.wustl.edu 37 3 133478068 133478068 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 133478068 133478068 G A SNP TF ENST00000402696 human ensembl 70_37 +1 known silent c.1098 p.L366 0.000 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors TF HGNC THOC5 8563 genome.wustl.edu 37 22 29908040 29908040 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 22 29908040 29908040 C T SNP THOC5 ENST00000397871 human ensembl 70_37 -1 known silent c.1767 p.E589 1.000 NULL pfam_THO_Thoc5 - no_errors THOC5 HGNC THSD4 79875 genome.wustl.edu 37 15 72020903 72020903 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 72020903 72020903 C T SNP THSD4 ENST00000261862 human ensembl 70_37 +1 known missense c.1373 p.S458F 0.999 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors THSD4 HGNC TIAM1 7074 genome.wustl.edu 37 21 32598150 32598150 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 21 32598150 32598150 G C SNP TIAM1 ENST00000286827 human ensembl 70_37 -1 known missense c.1701 p.I567M 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC TIAM1 7074 genome.wustl.edu 37 21 32598201 32598201 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 21 32598201 32598201 G A SNP TIAM1 ENST00000286827 human ensembl 70_37 -1 known silent c.1650 p.V550 0.698 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC TJP2 9414 genome.wustl.edu 37 9 71861671 71861671 + Nonsense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 9 71861671 71861671 C T SNP TJP2 ENST00000539225 human ensembl 70_37 +1 known nonsense c.2725 p.Q909* 1.000 smart_Guanylate_kin/L-typ_Ca_channel pfam_PDZ,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS2,prints_ZonOcculdens - no_errors TJP2 HGNC TLN2 83660 genome.wustl.edu 37 15 63111741 63111741 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 63111741 63111741 C G SNP TLN2 ENST00000306829 human ensembl 70_37 +1 known missense c.6798 p.F2266L 0.999 NULL pfam_Talin_cent,pfam_ILWEQ,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ - no_errors TLN2 HGNC TMEM161B 153396 genome.wustl.edu 37 5 87498893 87498893 + Splice_Site SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 87498893 87498893 C T SNP TMEM161B ENST00000296595 human ensembl 70_37 -1 known splice_site c.801-1 e9-1 1.000 - - - no_errors TMEM161B HGNC TMEM196 256130 genome.wustl.edu 37 7 19812188 19812188 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 19812188 19812188 G A SNP TMEM196 ENST00000405764 human ensembl 70_37 -1 known silent c.132 p.L44 1.000 NULL NULL - no_errors TMEM196 HGNC TMEM217 221468 genome.wustl.edu 37 6 37180457 37180457 + RNA SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 37180457 37180457 C T SNP TMEM217 ENST00000478262 human ensembl 70_37 -1 known rna NULL NULL 0.780 - - - no_errors TMEM217 HGNC TMEM39B 55116 genome.wustl.edu 37 1 32540602 32540602 + Nonsense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 32540602 32540602 G T SNP TMEM39B ENST00000336294 human ensembl 70_37 +1 known nonsense c.55 p.E19* 1.000 NULL pfam_Uncharacterised_TMEM39 - no_errors TMEM39B HGNC TMEM54 113452 genome.wustl.edu 37 1 33360407 33360407 + Nonstop_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 33360407 33360407 C G SNP TMEM54 ENST00000373463 human ensembl 70_37 -1 known nonstop c.668 p.*223S 0.997 NULL pfam_Beta-casein-like - no_errors TMEM54 HGNC TMX1 81542 genome.wustl.edu 37 14 51716416 51716416 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 14 51716416 51716416 G A SNP TMX1 ENST00000457354 human ensembl 70_37 +1 known missense c.597 p.M199I 1.000 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TMX1 HGNC TNXB 7148 genome.wustl.edu 37 6 32023869 32023869 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 32023869 32023869 C T SNP TNXB ENST00000375247 human ensembl 70_37 -1 known silent c.8226 p.L2742 0.997 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC TPRG1 285386 genome.wustl.edu 37 3 189033328 189033328 + RNA SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 189033328 189033328 G A SNP TPRG1 ENST00000481307 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors TPRG1 HGNC TREM1 54210 genome.wustl.edu 37 6 41250403 41250403 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 41250403 41250403 C G SNP TREM1 ENST00000244709 human ensembl 70_37 -1 known missense c.136 p.E46Q 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub - no_errors TREM1 HGNC TRIOBP 11078 genome.wustl.edu 37 22 38130627 38130627 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 22 38130627 38130627 G A SNP TRIOBP ENST00000406386 human ensembl 70_37 +1 known silent c.4284 p.Q1428 0.001 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC TRIOBP 11078 genome.wustl.edu 37 22 38130869 38130869 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 22 38130869 38130869 G C SNP TRIOBP ENST00000406386 human ensembl 70_37 +1 known missense c.4526 p.R1509T 0.734 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC TRIOBP 11078 genome.wustl.edu 37 22 38131387 38131387 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 22 38131387 38131387 G A SNP TRIOBP ENST00000406386 human ensembl 70_37 +1 known missense c.5044 p.E1682K 0.956 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC TRIOBP 11078 genome.wustl.edu 37 22 38150912 38150912 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 22 38150912 38150912 C G SNP TRIOBP ENST00000406386 human ensembl 70_37 +1 known missense c.5408 p.S1803C 0.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC TRIT1 54802 genome.wustl.edu 37 1 40315816 40315816 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 40315816 40315816 G A SNP TRIT1 ENST00000316891 human ensembl 70_37 -1 known silent c.678 p.I226 1.000 pfam_IPPT,tigrfam_tRNA_delta_PyrP_Trfase pfam_IPPT,pfam_Isopentenyl_transferase,pfam_Znf_C2H2_jaz,smart_Znf_U1,tigrfam_tRNA_delta_PyrP_Trfase - no_errors TRIT1 HGNC TRMT1 55621 genome.wustl.edu 37 19 13227100 13227100 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 13227100 13227100 C T SNP TRMT1 ENST00000357720 human ensembl 70_37 -1 known silent c.114 p.E38 1.000 NULL pfam_TRM1,pfam_Znf_CCCH,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_CCCH,tigrfam_TRM1 - no_errors TRMT1 HGNC TRPC4 7223 genome.wustl.edu 37 13 38266158 38266158 + Nonsense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 13 38266158 38266158 C T SNP TRPC4 ENST00000379681 human ensembl 70_37 -1 known nonsense c.1212 p.W404* 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC TRPM6 140803 genome.wustl.edu 37 9 77435249 77435249 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 9 77435249 77435249 G A SNP TRPM6 ENST00000451710 human ensembl 70_37 -1 known silent c.1105 p.L369 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC TSPAN7 7102 genome.wustl.edu 37 X 38535082 38535082 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 38535082 38535082 C G SNP TSPAN7 ENST00000422612 human ensembl 70_37 +1 known missense c.643 p.L215V 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN7 HGNC TTC25 83538 genome.wustl.edu 37 17 40094955 40094955 + RNA SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 40094955 40094955 G A SNP TTC25 ENST00000591658 human ensembl 70_37 +1 known rna NULL NULL 0.990 - - - no_errors TTC25 HGNC TTLL5 23093 genome.wustl.edu 37 14 76135834 76135835 + Frame_Shift_Ins INS - - A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 14 76135834 76135835 - A INS TTLL5 ENST00000298832 human ensembl 70_37 +1 known frame_shift_ins c.150_151 p.T50fs 1.000:1.000 NULL pfam_Tub_tyr_ligase - no_errors TTLL5 HGNC TTN 7273 genome.wustl.edu 37 2 179393069 179393069 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 179393069 179393069 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.99605 p.G33202E 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like 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 TTN 7273 genome.wustl.edu 37 2 179407639 179407639 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 179407639 179407639 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.89238 p.K29746 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like 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 TUBD1 51174 genome.wustl.edu 37 17 57941134 57941134 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 57941134 57941134 G A SNP TUBD1 ENST00000325752 human ensembl 70_37 -1 known missense c.1150 p.R384W 0.788 superfamily_Tub_FtsZ_C pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Tubulin,prints_Epsilon_tubulin - no_errors TUBD1 HGNC TWF2 11344 genome.wustl.edu 37 3 52263189 52263189 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 52263189 52263189 G A SNP TWF2 ENST00000305533 human ensembl 70_37 -1 known missense c.911 p.T304M 1.000 pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin - no_errors TWF2 HGNC UBA5 79876 genome.wustl.edu 37 3 132395370 132395370 + Nonstop_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 132395370 132395370 G C SNP UBA5 ENST00000356232 human ensembl 70_37 +1 known nonstop c.1215 p.*405Y 0.922 NULL pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB - no_errors UBA5 HGNC UHRF1BP1 54887 genome.wustl.edu 37 6 34801995 34801995 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 34801995 34801995 G A SNP UHRF1BP1 ENST00000192788 human ensembl 70_37 +1 known missense c.340 p.E114K 1.000 NULL NULL - no_errors UHRF1BP1 HGNC UNC5D 137970 genome.wustl.edu 37 8 35542222 35542222 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 8 35542222 35542222 G A SNP UNC5D ENST00000404895 human ensembl 70_37 +1 known missense c.874 p.E292K 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5D HGNC UPF3B 65109 genome.wustl.edu 37 X 118985826 118985826 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 118985826 118985826 C T SNP UPF3B ENST00000276201 human ensembl 70_37 -1 known missense c.167 p.R56Q 1.000 pfam_Nonsense_mediated_decay_UPF3 pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3B HGNC UPK3B 80761 genome.wustl.edu 37 7 76144472 76144472 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 76144472 76144472 C T SNP UPK3B ENST00000334348 human ensembl 70_37 +1 known missense c.782 p.P261L 0.968 NULL NULL - no_errors UPK3B HGNC USH2A 7399 genome.wustl.edu 37 1 216380627 216380627 + Nonsense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 216380627 216380627 G A SNP USH2A ENST00000366943 human ensembl 70_37 -1 known nonsense c.3304 p.Q1102* 0.897 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC USP11 8237 genome.wustl.edu 37 X 47098791 47098791 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 47098791 47098791 G A SNP USP11 ENST00000218348 human ensembl 70_37 +1 known missense c.457 p.E153K 0.147 pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP11 HGNC USP19 10869 genome.wustl.edu 37 3 49152994 49152994 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 49152994 49152994 C G SNP USP19 ENST00000398888 human ensembl 70_37 -1 known missense c.1462 p.E488Q 1.000 pfam_DUF1872 pfam_DUF1872,pfam_Peptidase_C19,pfam_Znf_MYND,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_Znf_MYND,pfscan_Peptidase_C19 - no_errors USP19 HGNC USP19 10869 genome.wustl.edu 37 3 49153054 49153054 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 49153054 49153054 C T SNP USP19 ENST00000398888 human ensembl 70_37 -1 known missense c.1402 p.V468M 1.000 pfam_DUF1872 pfam_DUF1872,pfam_Peptidase_C19,pfam_Znf_MYND,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_Znf_MYND,pfscan_Peptidase_C19 - no_errors USP19 HGNC USP46 64854 genome.wustl.edu 37 4 53492271 53492271 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 4 53492271 53492271 C G SNP USP46 ENST00000441222 human ensembl 70_37 -1 known missense c.475 p.E159Q 0.997 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP46 HGNC VPS13A 23230 genome.wustl.edu 37 9 79933357 79933357 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 9 79933357 79933357 G A SNP VPS13A ENST00000360280 human ensembl 70_37 +1 known missense c.5163 p.M1721I 0.001 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC VPS13D 55187 genome.wustl.edu 37 1 12316413 12316413 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 12316413 12316413 G C SNP VPS13D ENST00000358136 human ensembl 70_37 +1 known missense c.693 p.E231D 1.000 NULL pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC VPS13D 55187 genome.wustl.edu 37 1 12401881 12401881 + Missense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 12401881 12401881 G T SNP VPS13D ENST00000358136 human ensembl 70_37 +1 known missense c.8671 p.A2891S 1.000 NULL pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC WASH3P 374666 genome.wustl.edu 37 15 102506359 102506359 + RNA SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 15 102506359 102506359 G T SNP WASH3P ENST00000354296 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors WASH3P HGNC WNK3 65267 genome.wustl.edu 37 X 54359713 54359714 + In_Frame_Ins INS - - TTT TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 54359713 54359714 - TTT INS WNK3 ENST00000354646 human ensembl 70_37 -1 known in_frame_ins c.394_393 p.131in_frame_insK 1.000:1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK3 HGNC WNK3 65267 genome.wustl.edu 37 X 54359716 54359717 + In_Frame_Ins INS - - CAT TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c X 54359716 54359717 - CAT INS WNK3 ENST00000354646 human ensembl 70_37 -1 known in_frame_ins c.391_390 p.130in_frame_insM 1.000:1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK3 HGNC WNK4 65266 genome.wustl.edu 37 17 40946853 40946853 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 40946853 40946853 C G SNP WNK4 ENST00000246914 human ensembl 70_37 +1 known missense c.2414 p.S805C 0.799 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK4 HGNC XIRP2 129446 genome.wustl.edu 37 2 168114788 168114788 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 2 168114788 168114788 G A SNP XIRP2 ENST00000420519 human ensembl 70_37 +1 known missense c.1831 p.E611K 0.013 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors XIRP2 HGNC YTHDC2 64848 genome.wustl.edu 37 5 112874788 112874788 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 112874788 112874788 G C SNP YTHDC2 ENST00000161863 human ensembl 70_37 +1 known missense c.1120 p.E374Q 1.000 smart_Helicase_ATP-bd pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors YTHDC2 HGNC ZBTB38 253461 genome.wustl.edu 37 3 141161907 141161907 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 141161907 141161907 C G SNP ZBTB38 ENST00000321464 human ensembl 70_37 +1 known missense c.680 p.S227C 0.725 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ZDHHC5 25921 genome.wustl.edu 37 11 57466157 57466157 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 11 57466157 57466157 C G SNP ZDHHC5 ENST00000287169 human ensembl 70_37 +1 known missense c.1249 p.H417D 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC5 HGNC ZFAT 57623 genome.wustl.edu 37 8 135669870 135669870 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 8 135669870 135669870 C T SNP ZFAT ENST00000377838 human ensembl 70_37 -1 known missense c.130 p.E44K 0.991 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ZFYVE26 23503 genome.wustl.edu 37 14 68229100 68229100 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 14 68229100 68229100 G A SNP ZFYVE26 ENST00000347230 human ensembl 70_37 -1 known silent c.6189 p.T2063 0.004 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ZGLP1 100125288 genome.wustl.edu 37 19 10416086 10416086 + Silent SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 10416086 10416086 G C SNP ZGLP1 ENST00000403903 human ensembl 70_37 -1 known silent c.678 p.L226 0.997 pfam_Znf_GATA,smart_Znf_GATA,pfscan_Znf_GATA,prints_Znf_GATA pfam_Znf_GATA,smart_Znf_GATA,pfscan_Znf_GATA,prints_Znf_GATA - no_errors ZGLP1 HGNC ZMYM2 7750 genome.wustl.edu 37 13 20567387 20567387 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 13 20567387 20567387 G A SNP ZMYM2 ENST00000382869 human ensembl 70_37 +1 known missense c.175 p.D59N 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM2 HGNC ZNF169 169841 genome.wustl.edu 37 9 97054889 97054890 + RNA INS - - G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 9 97054889 97054890 - G INS ZNF169 ENST00000492115 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.006 - - - no_errors ZNF169 HGNC ZNF300P1 134466 genome.wustl.edu 37 5 150310537 150310537 + RNA SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 150310537 150310537 G A SNP ZNF300P1 ENST00000520773 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors ZNF300P1 HGNC ZNF335 63925 genome.wustl.edu 37 20 44592364 44592364 + RNA SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 20 44592364 44592364 C G SNP ZNF335 ENST00000475002 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF335 HGNC ZNF407 55628 genome.wustl.edu 37 18 72345785 72345785 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 18 72345785 72345785 C T SNP ZNF407 ENST00000299687 human ensembl 70_37 +1 known missense c.2810 p.S937L 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ZNF480 147657 genome.wustl.edu 37 19 52803701 52803701 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 52803701 52803701 G A SNP ZNF480 ENST00000468240 human ensembl 70_37 +1 known silent c.36 p.K12 0.044 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 ZNF480 HGNC ZNF496 84838 genome.wustl.edu 37 1 247492661 247492661 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 1 247492661 247492661 C T SNP ZNF496 ENST00000366498 human ensembl 70_37 -1 known missense c.220 p.E74K 0.268 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN 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_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF496 HGNC ZNF577 84765 genome.wustl.edu 37 19 52375874 52375874 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 52375874 52375874 C G SNP ZNF577 ENST00000301399 human ensembl 70_37 -1 known missense c.1369 p.E457Q 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 ZNF577 HGNC ZNF605 100289635 genome.wustl.edu 37 12 133502070 133502070 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 12 133502070 133502070 C T SNP ZNF605 ENST00000360187 human ensembl 70_37 -1 known missense c.1815 p.M605I 0.002 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 ZNF605 HGNC ZNF608 57507 genome.wustl.edu 37 5 123984460 123984460 + Silent SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 123984460 123984460 C T SNP ZNF608 ENST00000306315 human ensembl 70_37 -1 known silent c.1617 p.E539 1.000 NULL NULL - no_errors ZNF608 HGNC ZNF615 284370 genome.wustl.edu 37 19 52497885 52497885 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 52497885 52497885 C G SNP ZNF615 ENST00000594083 human ensembl 70_37 -1 known missense c.477 p.R159S 0.002 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 ZNF615 HGNC ZNF621 285268 genome.wustl.edu 37 3 40573774 40573774 + Missense_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 3 40573774 40573774 G C SNP ZNF621 ENST00000339296 human ensembl 70_37 +1 known missense c.513 p.M171I 0.970 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 ZNF621 HGNC ZNF716 441234 genome.wustl.edu 37 7 57529078 57529078 + Missense_Mutation SNP C C A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 7 57529078 57529078 C A SNP ZNF716 ENST00000420713 human ensembl 70_37 +1 known missense c.911 p.A304D 0.720 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 ZNF716 HGNC ZNF750 79755 genome.wustl.edu 37 17 80789552 80789553 + Frame_Shift_Ins INS - - G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 17 80789552 80789553 - G INS ZNF750 ENST00000269394 human ensembl 70_37 -1 known frame_shift_ins c.779_778 p.L260fs 0.484:0.793 NULL NULL - no_errors ZNF750 HGNC ZNF805 390980 genome.wustl.edu 37 19 57764604 57764604 + Silent SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 19 57764604 57764604 G A SNP ZNF805 ENST00000414468 human ensembl 70_37 +1 known silent c.417 p.L139 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 ZNF805 HGNC ZNF839 55778 genome.wustl.edu 37 14 102798158 102798158 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 14 102798158 102798158 C T SNP ZNF839 ENST00000442396 human ensembl 70_37 +1 known missense c.1391 p.S464L 0.001 NULL pfscan_Znf_C2H2 - no_errors ZNF839 HGNC ZNF879 345462 genome.wustl.edu 37 5 178460262 178460262 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 5 178460262 178460262 C G SNP ZNF879 ENST00000444149 human ensembl 70_37 +1 known missense c.1313 p.S438C 0.045 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 ZNF879 HGNC ZNRD1 30834 genome.wustl.edu 37 6 30030070 30030070 + Missense_Mutation SNP G G T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4de35b22-a7e2-46e2-a2e3-f28e55834986 3019b763-0f7e-4424-bd69-80f6c130246c 6 30030070 30030070 G T SNP ZNRD1 ENST00000332435 human ensembl 70_37 +1 known missense c.316 p.D106Y 0.996 pfam_Znf_TFIIS,smart_Znf_TFIIS,pfscan_Znf_TFIIS pfam_Znf_TFIIS,smart_Znf_TFIIS,pfscan_Znf_TFIIS - no_errors ZNRD1 HGNC