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 AAMP 14 genome.wustl.edu 37 2 219134255 219134255 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 219134255 219134255 C T SNP AAMP ENST00000248450 human ensembl 70_37 -1 known missense c.124 p.D42N 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AAMP HGNC ABCA2 20 genome.wustl.edu 37 9 139912145 139912145 + Splice_Site SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 139912145 139912145 C T SNP ABCA2 ENST00000265662 human ensembl 70_37 -1 known splice_site c.2212-1 e17-1 1.000 - - - no_errors ABCA2 HGNC ABCA7 10347 genome.wustl.edu 37 19 1043092 1043092 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 1043092 1043092 G A SNP ABCA7 ENST00000263094 human ensembl 70_37 +1 known missense c.632 p.R211Q 0.000 NULL pfam_ABC_transporter-like,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ACBD3 64746 genome.wustl.edu 37 1 226353582 226353582 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 226353582 226353582 C G SNP ACBD3 ENST00000366812 human ensembl 70_37 -1 known missense c.406 p.D136H 1.000 pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein pfam_Acyl-CoA-binding_protein,superfamily_GOLD,superfamily_Acyl-CoA-binding_protein,pfscan_GOLD - no_errors ACBD3 HGNC ACIN1 22985 genome.wustl.edu 37 14 23548958 23548958 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 14 23548958 23548958 G C SNP ACIN1 ENST00000262710 human ensembl 70_37 -1 known missense c.1760 p.S587C 1.000 NULL pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors ACIN1 HGNC ACO1 48 genome.wustl.edu 37 9 32418333 32418333 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 32418333 32418333 C T SNP ACO1 ENST00000309951 human ensembl 70_37 +1 known missense c.482 p.S161F 1.000 pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors ACO1 HGNC ACSBG1 23205 genome.wustl.edu 37 15 78486929 78486929 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 15 78486929 78486929 G C SNP ACSBG1 ENST00000258873 human ensembl 70_37 -1 known missense c.372 p.F124L 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSBG1 HGNC ACVR1B 91 genome.wustl.edu 37 12 52387888 52387888 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 52387888 52387888 G A SNP ACVR1B ENST00000257963 human ensembl 70_37 +1 known silent c.1512 p.K504 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ACVR1B HGNC ADAD1 132612 genome.wustl.edu 37 4 123317485 123317485 + Missense_Mutation SNP A A G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 4 123317485 123317485 A G SNP ADAD1 ENST00000296513 human ensembl 70_37 +1 known missense c.677 p.E226G 1.000 smart_A_deamin pfam_A_deamin,pfam_Ds-RNA-bd,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin - no_errors ADAD1 HGNC ADAM10 102 genome.wustl.edu 37 15 58920052 58920052 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 15 58920052 58920052 C G SNP ADAM10 ENST00000260408 human ensembl 70_37 -1 known missense c.1207 p.E403Q 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM10 HGNC ADAM9 8754 genome.wustl.edu 37 8 38883375 38883375 + Nonsense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 38883375 38883375 C G SNP ADAM9 ENST00000487273 human ensembl 70_37 +1 known nonsense c.968 p.S323* 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM9 HGNC ADAMTSL2 9719 genome.wustl.edu 37 9 136406068 136406068 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 136406068 136406068 C T SNP ADAMTSL2 ENST00000393061 human ensembl 70_37 +1 known silent c.954 p.D318 1.000 prints_Peptidase_M12B_ADAM-TS pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL2 HGNC ADD2 119 genome.wustl.edu 37 2 70890611 70890611 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 70890611 70890611 G A SNP ADD2 ENST00000264436 human ensembl 70_37 -1 known silent c.2127 p.F709 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ADH1B 125 genome.wustl.edu 37 4 100237074 100237074 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 4 100237074 100237074 G C SNP ADH1B ENST00000305046 human ensembl 70_37 -1 known missense c.548 p.S183C 1.000 superfamily_GroES-like,smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors ADH1B HGNC ADH6 130 genome.wustl.edu 37 4 100129809 100129809 + RNA SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 4 100129809 100129809 C G SNP ADH6 ENST00000504257 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors ADH6 HGNC AEBP1 165 genome.wustl.edu 37 7 44149878 44149878 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 44149878 44149878 G C SNP AEBP1 ENST00000223357 human ensembl 70_37 +1 known missense c.1333 p.E445Q 0.974 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom 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 AGTPBP1 23287 genome.wustl.edu 37 9 88190252 88190252 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 88190252 88190252 C G SNP AGTPBP1 ENST00000376109 human ensembl 70_37 -1 known missense c.3517 p.E1173Q 1.000 NULL pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC AHCTF1 25909 genome.wustl.edu 37 1 247002960 247002960 + RNA SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 247002960 247002960 C T SNP AHCTF1 ENST00000470300 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors AHCTF1 HGNC AKAP7 9465 genome.wustl.edu 37 6 131466535 131466535 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 131466535 131466535 G C SNP AKAP7 ENST00000368123 human ensembl 70_37 +1 known missense c.64 p.D22H 0.983 pfam_Kinase-A_anchor_nucl_local_sig pfam_Kinase-A_anchor_nucl_local_sig,pfam_Kinase-A_anchor_RI-RII-bd_dom,superfamily_RNA_ligase/cNuc_Pdiesterase - no_errors AKAP7 HGNC AKT1 207 genome.wustl.edu 37 14 105258937 105258937 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 14 105258937 105258937 C T SNP AKT1 ENST00000349310 human ensembl 70_37 -1 known missense c.44 p.R15Q 0.997 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology 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 AKT1 HGNC ANK3 288 genome.wustl.edu 37 10 61832718 61832718 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 61832718 61832718 C T SNP ANK3 ENST00000280772 human ensembl 70_37 -1 known missense c.7921 p.A2641T 0.002 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ANKRD13C 81573 genome.wustl.edu 37 1 70819990 70819990 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 70819990 70819990 G A SNP ANKRD13C ENST00000370944 human ensembl 70_37 -1 known silent c.102 p.L34 1.000 NULL pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD13C HGNC ANKRD36 375248 genome.wustl.edu 37 2 97866212 97866212 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 97866212 97866212 C G SNP ANKRD36 ENST00000420699 human ensembl 70_37 +1 known missense c.2807 p.S936C 0.052 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ANKRD36B 57730 genome.wustl.edu 37 2 98206253 98206253 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 98206253 98206253 G A SNP ANKRD36B ENST00000419390 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors ANKRD36B HGNC ANKRD40 91369 genome.wustl.edu 37 17 48784890 48784890 + Silent SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 48784890 48784890 G C SNP ANKRD40 ENST00000285243 human ensembl 70_37 -1 known silent c.126 p.V42 1.000 superfamily_Ankyrin_rpt-contain_dom,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 ANKRD40 HGNC ANKRD44 91526 genome.wustl.edu 37 2 197964597 197964597 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 197964597 197964597 C T SNP ANKRD44 ENST00000328737 human ensembl 70_37 -1 known missense c.968 p.R323K 1.000 pfam_Ankyrin_rpt,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 ANKRD44 HGNC ANO2 57101 genome.wustl.edu 37 12 5908678 5908678 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 5908678 5908678 G A SNP ANO2 ENST00000356134 human ensembl 70_37 -1 known silent c.1041 p.L347 1.000 NULL pfam_Anoctamin - no_errors ANO2 HGNC ANO4 121601 genome.wustl.edu 37 12 101493441 101493441 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 101493441 101493441 G A SNP ANO4 ENST00000392977 human ensembl 70_37 +1 known missense c.2092 p.D698N 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO4 HGNC ANO9 338440 genome.wustl.edu 37 11 431747 431747 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 431747 431747 C G SNP ANO9 ENST00000332826 human ensembl 70_37 -1 known missense c.486 p.K162N 0.000 NULL pfam_Anoctamin - no_errors ANO9 HGNC APH1A 51107 genome.wustl.edu 37 1 150238976 150238976 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 150238976 150238976 G A SNP APH1A ENST00000369109 human ensembl 70_37 -1 known silent c.690 p.I230 1.000 pfam_Aph-1 pfam_Aph-1 - no_errors APH1A HGNC ARHGEF12 23365 genome.wustl.edu 37 11 120350709 120350709 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 120350709 120350709 G A SNP ARHGEF12 ENST00000356641 human ensembl 70_37 +1 known silent c.3750 p.L1250 0.352 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 ARL6IP1 23204 genome.wustl.edu 37 16 18804601 18804601 + Silent SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 18804601 18804601 G C SNP ARL6IP1 ENST00000304414 human ensembl 70_37 -1 known silent c.585 p.L195 1.000 NULL pfam_Reticulon - no_errors ARL6IP1 HGNC ARNTL 406 genome.wustl.edu 37 11 13399978 13399978 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 13399978 13399978 C T SNP ARNTL ENST00000403290 human ensembl 70_37 +1 known silent c.1509 p.I503 1.000 NULL pfam_PAS_fold,pfam_PAS_fold_3,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNTL HGNC ART4 420 genome.wustl.edu 37 12 14993819 14993819 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 14993819 14993819 C G SNP ART4 ENST00000228936 human ensembl 70_37 -1 known missense c.413 p.R138T 0.000 pfam_ART pfam_ART,prints_ART - no_errors ART4 HGNC ARV1 64801 genome.wustl.edu 37 1 231131561 231131561 + Missense_Mutation SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 231131561 231131561 G T SNP ARV1 ENST00000310256 human ensembl 70_37 +1 known missense c.504 p.M168I 0.000 pfam_Arv1 pfam_Arv1 - no_errors ARV1 HGNC ASMTL 8623 genome.wustl.edu 37 X 1531692 1531692 + Silent SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 X 1531692 1531692 G T SNP ASMTL ENST00000381317 human ensembl 70_37 -1 known silent c.1578 p.I526 0.992 pfam_O_MeTrfase_2 pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf - no_errors ASMTL HGNC ASTN1 460 genome.wustl.edu 37 1 176853535 176853535 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 176853535 176853535 C G SNP ASTN1 ENST00000367654 human ensembl 70_37 -1 known missense c.3190 p.D1064H 0.999 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ATAD1 84896 genome.wustl.edu 37 10 89552437 89552437 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 89552437 89552437 G A SNP ATAD1 ENST00000308448 human ensembl 70_37 -1 known missense c.238 p.L80F 1.000 NULL pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase - no_errors ATAD1 HGNC ATAD2 29028 genome.wustl.edu 37 8 124382145 124382145 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 124382145 124382145 C T SNP ATAD2 ENST00000287394 human ensembl 70_37 -1 known missense c.847 p.E283K 0.994 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ATAD3B 83858 genome.wustl.edu 37 1 1425767 1425767 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 1425767 1425767 G A SNP ATAD3B ENST00000308647 human ensembl 70_37 +1 known missense c.1468 p.D490N 1.000 NULL pfam_DUF3523,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors ATAD3B HGNC ATM 472 genome.wustl.edu 37 11 108153542 108153542 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 108153542 108153542 G A SNP ATM ENST00000278616 human ensembl 70_37 +1 known missense c.3682 p.E1228K 0.994 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ATP12A 479 genome.wustl.edu 37 13 25262603 25262603 + Silent SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 13 25262603 25262603 C G SNP ATP12A ENST00000218548 human ensembl 70_37 +1 known silent c.375 p.L125 0.975 pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_cation-ex_asu_euk pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP12A HGNC ATP5C1 509 genome.wustl.edu 37 10 7842008 7842008 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 7842008 7842008 G A SNP ATP5C1 ENST00000356708 human ensembl 70_37 +1 known silent c.591 p.K197 1.000 pfam_ATPase_F1-cplx_gsu,superfamily_ATPase_F1_gsu_dom,prints_ATPase_F1-cplx_gsu,tigrfam_ATPase_F1-cplx_gsu pfam_ATPase_F1-cplx_gsu,superfamily_ATPase_F1_gsu_dom,prints_ATPase_F1-cplx_gsu,tigrfam_ATPase_F1-cplx_gsu - no_errors ATP5C1 HGNC ATP6V1A 523 genome.wustl.edu 37 3 113513779 113513779 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 113513779 113513779 C G SNP ATP6V1A ENST00000273398 human ensembl 70_37 +1 known missense c.1049 p.S350C 1.000 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,tigrfam_ATPase_V1-cplx_asu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_a/bsu_N,tigrfam_ATPase_V1-cplx_asu - no_errors ATP6V1A HGNC ATPIF1 93974 genome.wustl.edu 37 1 28562944 28562944 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 28562944 28562944 G A SNP ATPIF1 ENST00000335514 human ensembl 70_37 +1 known missense c.160 p.E54K 0.998 pfam_ATPase_inhibitor_IATP_mt pfam_ATPase_inhibitor_IATP_mt - no_errors ATPIF1 HGNC AUNIP 79000 genome.wustl.edu 37 1 26161667 26161667 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 26161667 26161667 G A SNP AUNIP ENST00000538789 human ensembl 70_37 -1 known silent c.891 p.V297 1.000 NULL NULL - no_errors AUNIP HGNC B3GNTL1 146712 genome.wustl.edu 37 17 80972369 80972369 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 80972369 80972369 C T SNP B3GNTL1 ENST00000320865 human ensembl 70_37 -1 known silent c.369 p.V123 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2 - no_errors B3GNTL1 HGNC BAAT 570 genome.wustl.edu 37 9 104124827 104124827 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 104124827 104124827 C G SNP BAAT ENST00000259407 human ensembl 70_37 -1 known missense c.1140 p.L380F 0.000 pfam_BAAT_C,pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors BAAT HGNC BEND2 139105 genome.wustl.edu 37 X 18183237 18183237 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 X 18183237 18183237 G A SNP BEND2 ENST00000380033 human ensembl 70_37 -1 known silent c.2292 p.D764 0.000 NULL pfam_BEN_domain - no_errors BEND2 HGNC BMP4 652 genome.wustl.edu 37 14 54417513 54417513 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 14 54417513 54417513 G C SNP BMP4 ENST00000245451 human ensembl 70_37 -1 known missense c.464 p.S155C 0.996 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP4 HGNC BTN3A3 10384 genome.wustl.edu 37 6 26446130 26446130 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 26446130 26446130 G C SNP BTN3A3 ENST00000244519 human ensembl 70_37 +1 known missense c.632 p.R211T 0.000 pfscan_Ig-like pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin - no_errors BTN3A3 HGNC C10orf71 118461 genome.wustl.edu 37 10 50534536 50534536 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 50534536 50534536 G A SNP C10orf71 ENST00000374144 human ensembl 70_37 +1 known missense c.3946 p.E1316K 0.077 NULL NULL - no_errors C10orf71 HGNC C19orf68 374920 genome.wustl.edu 37 19 48685724 48685724 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 48685724 48685724 C T SNP C19orf68 ENST00000328759 human ensembl 70_37 +1 known silent c.288 p.P96 0.974 NULL NULL - no_errors C19orf68 HGNC C1RL 51279 genome.wustl.edu 37 12 7252370 7252370 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 7252370 7252370 G A SNP C1RL ENST00000544702 human ensembl 70_37 -1 putative missense c.650 p.S217L 0.022 NULL pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB - no_errors C1RL HGNC TANGO2 128989 genome.wustl.edu 37 22 20052087 20052087 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 22 20052087 20052087 G A SNP C22orf25 ENST00000456048 human ensembl 70_37 +1 known missense c.748 p.D250N 0.996 pfam_DUF833 pfam_DUF833 - no_errors C22orf25 HGNC C5orf20 140947 genome.wustl.edu 37 5 134782257 134782257 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 134782257 134782257 G A SNP C5orf20 ENST00000503143 human ensembl 70_37 -1 known missense c.542 p.S181L 0.002 NULL NULL - no_errors C5orf20 HGNC C5orf34 375444 genome.wustl.edu 37 5 43506470 43506470 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 43506470 43506470 C T SNP C5orf34 ENST00000306862 human ensembl 70_37 -1 known silent c.312 p.V104 0.012 NULL NULL - no_errors C5orf34 HGNC C8orf34 116328 genome.wustl.edu 37 8 69537880 69537880 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 69537880 69537880 C T SNP C8orf34 ENST00000325233 human ensembl 70_37 +1 known silent c.69 p.S23 0.381 NULL NULL - no_errors C8orf34 HGNC MROH6 642475 genome.wustl.edu 37 8 144654698 144654698 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 144654698 144654698 C T SNP C8orf73 ENST00000398882 human ensembl 70_37 -1 known missense c.187 p.A63T 0.000 NULL superfamily_ARM-type_fold - no_errors C8orf73 HGNC CACNA1H 8912 genome.wustl.edu 37 16 1262079 1262079 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 1262079 1262079 C T SNP CACNA1H ENST00000348261 human ensembl 70_37 +1 known missense c.4700 p.A1567V 0.991 prints_VDCC_T_a1su pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC CACNA1I 8911 genome.wustl.edu 37 22 40068993 40068993 + Silent SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 22 40068993 40068993 C G SNP CACNA1I ENST00000336649 human ensembl 70_37 +1 known silent c.4707 p.V1569 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC CALB2 794 genome.wustl.edu 37 16 71408656 71408656 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 71408656 71408656 G C SNP CALB2 ENST00000302628 human ensembl 70_37 +1 known missense c.180 p.K60N 1.000 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CALB2 HGNC CAPRIN2 65981 genome.wustl.edu 37 12 30863277 30863277 + Silent SNP T T A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 30863277 30863277 T A SNP CAPRIN2 ENST00000251071 human ensembl 70_37 -1 known silent c.2943 p.A981 0.972 NULL pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors CAPRIN2 HGNC CASP8 841 genome.wustl.edu 37 2 202151270 202151270 + Nonsense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 202151270 202151270 C T SNP CASP8 ENST00000358485 human ensembl 70_37 +1 known nonsense c.1570 p.Q524* 0.996 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10 pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP8 HGNC CATSPER4 378807 genome.wustl.edu 37 1 26526400 26526400 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 26526400 26526400 G C SNP CATSPER4 ENST00000456354 human ensembl 70_37 +1 known missense c.838 p.E280Q 0.998 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER4 HGNC CATSPERD 257062 genome.wustl.edu 37 19 5751739 5751739 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 5751739 5751739 C T SNP CATSPERD ENST00000381624 human ensembl 70_37 +1 known missense c.1069 p.R357C 0.000 NULL superfamily_WD40_repeat_dom - no_errors CATSPERD HGNC CCDC168 643677 genome.wustl.edu 37 13 103384590 103384590 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 13 103384590 103384590 G A SNP CCDC168 ENST00000322527 human ensembl 70_37 -1 known missense c.4570 p.R1524C 0.000 NULL NULL - no_errors CCDC168 HGNC CCDC58 131076 genome.wustl.edu 37 3 122087074 122087074 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 122087074 122087074 C G SNP CCDC58 ENST00000291458 human ensembl 70_37 -1 known missense c.273 p.K91N 1.000 pfam_Caffeine_induced_death_Cid2 pfam_Caffeine_induced_death_Cid2 - no_errors CCDC58 HGNC CCDC9 26093 genome.wustl.edu 37 19 47764056 47764056 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 47764056 47764056 C T SNP CCDC9 ENST00000221922 human ensembl 70_37 +1 known missense c.422 p.S141F 0.997 NULL NULL - no_errors CCDC9 HGNC CCNE1 898 genome.wustl.edu 37 19 30314669 30314669 + Silent SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 30314669 30314669 G T SNP CCNE1 ENST00000262643 human ensembl 70_37 +1 known silent c.1218 p.G406 0.110 NULL pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNE1 HGNC CCR7 1236 genome.wustl.edu 37 17 38711120 38711120 + Silent SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 38711120 38711120 G C SNP CCR7 ENST00000246657 human ensembl 70_37 -1 known silent c.1011 p.L337 0.991 pfam_7TM_GPCR_olfarory/Srsx,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CCR11 - no_errors CCR7 HGNC CCR7 1236 genome.wustl.edu 37 17 38711534 38711534 + Silent SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 38711534 38711534 G C SNP CCR7 ENST00000246657 human ensembl 70_37 -1 known silent c.597 p.L199 0.197 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CCR11 - no_errors CCR7 HGNC CD58 965 genome.wustl.edu 37 1 117087104 117087104 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 117087104 117087104 C G SNP CD58 ENST00000369489 human ensembl 70_37 -1 known missense c.193 p.E65Q 0.000 NULL NULL - no_errors CD58 HGNC CD72 971 genome.wustl.edu 37 9 35610239 35610239 + RNA SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 35610239 35610239 G C SNP CD72 ENST00000490239 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CD72 HGNC CDC42EP4 23580 genome.wustl.edu 37 17 71281696 71281696 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 71281696 71281696 G A SNP CDC42EP4 ENST00000335793 human ensembl 70_37 -1 known missense c.944 p.S315L 1.000 NULL pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd - no_errors CDC42EP4 HGNC CDH10 1008 genome.wustl.edu 37 5 24487903 24487903 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 24487903 24487903 C T SNP CDH10 ENST00000264463 human ensembl 70_37 -1 known missense c.2236 p.E746K 0.998 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH10 HGNC CDH10 1008 genome.wustl.edu 37 5 24511436 24511436 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 24511436 24511436 C T SNP CDH10 ENST00000264463 human ensembl 70_37 -1 known silent c.1002 p.K334 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH10 HGNC CDK14 5218 genome.wustl.edu 37 7 90338784 90338784 + RNA SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 90338784 90338784 C T SNP CDK14 ENST00000496279 human ensembl 70_37 +1 known rna NULL NULL 0.993 - - - no_errors CDK14 HGNC CDK18 5129 genome.wustl.edu 37 1 205501487 205501487 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 205501487 205501487 G A SNP CDK18 ENST00000509056 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CDK18 HGNC CECR2 27443 genome.wustl.edu 37 22 17983929 17983929 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 22 17983929 17983929 G C SNP CECR2 ENST00000400573 human ensembl 70_37 +1 novel missense c.685 p.E229Q 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors CECR2 HGNC CENPE 1062 genome.wustl.edu 37 4 104067180 104067180 + Nonsense_Mutation SNP C C A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 4 104067180 104067180 C A SNP CENPE ENST00000265148 human ensembl 70_37 -1 known nonsense c.4219 p.E1407* 0.995 NULL pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC CENPT 80152 genome.wustl.edu 37 16 67863860 67863860 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 67863860 67863860 C G SNP CENPT ENST00000219172 human ensembl 70_37 -1 known missense c.994 p.E332Q 0.000 NULL superfamily_Histone-fold - no_errors CENPT HGNC CEP128 145508 genome.wustl.edu 37 14 80971314 80971314 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 14 80971314 80971314 G A SNP CEP128 ENST00000281129 human ensembl 70_37 -1 known missense c.3122 p.S1041L 0.012 NULL NULL - no_errors CEP128 HGNC CGN 57530 genome.wustl.edu 37 1 151491314 151491314 + Nonsense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 151491314 151491314 C T SNP CGN ENST00000271636 human ensembl 70_37 +1 known nonsense c.319 p.Q107* 0.238 NULL pfam_Myosin_tail - no_errors CGN HGNC CLCC1 23155 genome.wustl.edu 37 1 109482749 109482749 + Nonsense_Mutation SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 109482749 109482749 G T SNP CLCC1 ENST00000356970 human ensembl 70_37 -1 known nonsense c.812 p.S271* 0.964 pfam_Chloride_chnl_CLIC-like pfam_Chloride_chnl_CLIC-like - no_errors CLCC1 HGNC CLEC14A 161198 genome.wustl.edu 37 14 38724060 38724060 + Nonsense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 14 38724060 38724060 G A SNP CLEC14A ENST00000342213 human ensembl 70_37 -1 known nonsense c.1168 p.Q390* 0.010 NULL superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC14A HGNC CLPTM1 1209 genome.wustl.edu 37 19 45493813 45493813 + Silent SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 45493813 45493813 C G SNP CLPTM1 ENST00000337392 human ensembl 70_37 +1 known silent c.1293 p.L431 1.000 pfam_CLPTM1 pfam_CLPTM1 - no_errors CLPTM1 HGNC CLTC 1213 genome.wustl.edu 37 17 57742163 57742163 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 57742163 57742163 G A SNP CLTC ENST00000269122 human ensembl 70_37 +1 known missense c.1537 p.D513N 1.000 superfamily_ARM-type_fold,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTC HGNC CNNM2 54805 genome.wustl.edu 37 10 104679239 104679239 + Silent SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 104679239 104679239 C G SNP CNNM2 ENST00000457502 human ensembl 70_37 +1 known silent c.1002 p.L334 1.000 pfam_DUF21 pfam_DUF21,superfamily_cNMP-bd-like - no_errors CNNM2 HGNC CNTNAP2 26047 genome.wustl.edu 37 7 147844759 147844759 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 147844759 147844759 G A SNP CNTNAP2 ENST00000361727 human ensembl 70_37 +1 known missense c.2731 p.E911K 0.982 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 CNTNAP4 85445 genome.wustl.edu 37 16 76311603 76311604 + Splice_Site INS - - C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 76311603 76311604 - C INS CNTNAP4 ENST00000307431 human ensembl 70_37 +1 known splice_site_ins c.42+1_42+1 e1+1 0.944:0.963 - - - no_errors CNTNAP4 HGNC CNTNAP4 85445 genome.wustl.edu 37 16 76486529 76486529 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 76486529 76486529 G A SNP CNTNAP4 ENST00000307431 human ensembl 70_37 +1 known missense c.1193 p.R398Q 1.000 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,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,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC COL15A1 1306 genome.wustl.edu 37 9 101765855 101765855 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 101765855 101765855 G A SNP COL15A1 ENST00000375001 human ensembl 70_37 +1 known missense c.1186 p.E396K 0.012 NULL pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC COL17A1 1308 genome.wustl.edu 37 10 105815621 105815621 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 105815621 105815621 C T SNP COL17A1 ENST00000353479 human ensembl 70_37 -1 known missense c.1606 p.D536N 0.001 NULL pfam_Collagen - no_errors COL17A1 HGNC COL6A5 256076 genome.wustl.edu 37 3 130107629 130107629 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 130107629 130107629 G C SNP COL6A5 ENST00000265379 human ensembl 70_37 +1 known missense c.2068 p.E690Q 0.909 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC CREB5 9586 genome.wustl.edu 37 7 28843919 28843919 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 28843919 28843919 C T SNP CREB5 ENST00000357727 human ensembl 70_37 +1 known missense c.806 p.T269M 1.000 pirsf_TF_cAMP-dep pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors CREB5 HGNC CRHR2 1395 genome.wustl.edu 37 7 30704803 30704803 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 30704803 30704803 C T SNP CRHR2 ENST00000348438 human ensembl 70_37 -1 known silent c.507 p.R169 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF2_rcpt,prints_GPCR_2_diuretic_rcpt - no_errors CRHR2 HGNC YBX3 8531 genome.wustl.edu 37 12 10854632 10854632 + Missense_Mutation SNP C C A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 10854632 10854632 C A SNP CSDA ENST00000228251 human ensembl 70_37 -1 known missense c.980 p.R327L 1.000 NULL pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot,prints_CSP_DNA-bd - no_errors CSDA HGNC CSH1 1442 genome.wustl.edu 37 17 61972547 61972547 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 61972547 61972547 C G SNP CSH1 ENST00000316193 human ensembl 70_37 -1 known missense c.489 p.Q163H 0.392 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors CSH1 HGNC CSMD3 114788 genome.wustl.edu 37 8 113301615 113301615 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 113301615 113301615 C T SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known missense c.9127 p.G3043R 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC CSPP1 79848 genome.wustl.edu 37 8 68107771 68107771 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 68107771 68107771 G C SNP CSPP1 ENST00000262210 human ensembl 70_37 +1 known missense c.3609 p.Q1203H 0.996 NULL NULL - no_errors CSPP1 HGNC CSRNP2 81566 genome.wustl.edu 37 12 51470431 51470431 + Splice_Site SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 51470431 51470431 C T SNP CSRNP2 ENST00000228515 human ensembl 70_37 -1 known splice_site c.1-1 e1-1 1.000 - - - no_errors CSRNP2 HGNC CXCR2P1 3580 genome.wustl.edu 37 2 218924939 218924939 + RNA SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 218924939 218924939 C T SNP CXCR2P1 ENST00000439871 human ensembl 70_37 -1 known rna NULL NULL 0.095 - - - no_errors CXCR2P1 HGNC CXorf30 645090 genome.wustl.edu 37 X 36337408 36337408 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 X 36337408 36337408 C T SNP CXorf30 ENST00000378657 human ensembl 70_37 +1 known missense c.767 p.P256L 0.000 NULL NULL - no_errors CXorf30 HGNC DACT1 51339 genome.wustl.edu 37 14 59113006 59113006 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 14 59113006 59113006 C T SNP DACT1 ENST00000335867 human ensembl 70_37 +1 known silent c.1665 p.V555 0.657 NULL NULL - no_errors DACT1 HGNC DCC 1630 genome.wustl.edu 37 18 49867236 49867236 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 18 49867236 49867236 C T SNP DCC ENST00000442544 human ensembl 70_37 +1 known missense c.79 p.L27F 1.000 pfscan_Ig-like pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DCC HGNC DCHS1 8642 genome.wustl.edu 37 11 6650967 6650967 + Silent SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 6650967 6650967 G C SNP DCHS1 ENST00000299441 human ensembl 70_37 -1 known silent c.4971 p.L1657 0.488 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC DDX10 1662 genome.wustl.edu 37 11 108811173 108811173 + RNA SNP C C A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 108811173 108811173 C A SNP DDX10 ENST00000524979 human ensembl 70_37 +1 putative rna NULL NULL 0.001 - - - no_errors DDX10 HGNC DDX42 11325 genome.wustl.edu 37 17 61894305 61894305 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 61894305 61894305 G A SNP DDX42 ENST00000389924 human ensembl 70_37 +1 known silent c.2091 p.T697 0.885 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX42 HGNC DENND2A 27147 genome.wustl.edu 37 7 140301267 140301267 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 140301267 140301267 G A SNP DENND2A ENST00000275884 human ensembl 70_37 -1 known missense c.931 p.P311S 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC DHX58 79132 genome.wustl.edu 37 17 40255628 40255628 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 40255628 40255628 G C SNP DHX58 ENST00000251642 human ensembl 70_37 -1 known missense c.1752 p.F584L 1.000 pfam_RIG-I_C-RD pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX58 HGNC DMD 1756 genome.wustl.edu 37 X 31645828 31645828 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 X 31645828 31645828 C T SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.8179 p.D2727N 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC DNAJA1 3301 genome.wustl.edu 37 9 33038806 33038806 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 33038806 33038806 G A SNP DNAJA1 ENST00000330899 human ensembl 70_37 +1 known missense c.1099 p.D367N 1.000 NULL pfam_DnaJ_C,pfam_DnaJ_N,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_N,pfscan_DnaJ_N,pfscan_HSP_DnaJ_Cys-rich_dom,prints_Hsp_DnaJ - no_errors DNAJA1 HGNC DUS3L 56931 genome.wustl.edu 37 19 5789420 5789420 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 5789420 5789420 C T SNP DUS3L ENST00000309061 human ensembl 70_37 -1 known missense c.698 p.R233H 0.000 NULL pfam_tRNA_hU_synthase - no_errors DUS3L HGNC DYNC2H1 79659 genome.wustl.edu 37 11 103041002 103041002 + Missense_Mutation SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 103041002 103041002 G T SNP DYNC2H1 ENST00000398093 human ensembl 70_37 +1 known missense c.5134 p.V1712F 1.000 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC DYRK1A 1859 genome.wustl.edu 37 21 38862616 38862616 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 21 38862616 38862616 G C SNP DYRK1A ENST00000398960 human ensembl 70_37 +1 known missense c.804 p.Q268H 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DYRK1A HGNC EFCAB4B 84766 genome.wustl.edu 37 12 3757688 3757688 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 3757688 3757688 G C SNP EFCAB4B ENST00000252322 human ensembl 70_37 -1 known missense c.1138 p.P380A 0.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFCAB4B HGNC EIF4A1 1973 genome.wustl.edu 37 17 7480675 7480675 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 7480675 7480675 C T SNP EIF4A1 ENST00000293831 human ensembl 70_37 +1 known missense c.638 p.S213L 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors EIF4A1 HGNC EIF4A2 1974 genome.wustl.edu 37 3 186502834 186502834 + Nonsense_Mutation SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 186502834 186502834 G T SNP EIF4A2 ENST00000440191 human ensembl 70_37 +1 known nonsense c.295 p.E99* 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors EIF4A2 HGNC EMC1 23065 genome.wustl.edu 37 1 19549250 19549250 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 19549250 19549250 C T SNP EMC1 ENST00000477853 human ensembl 70_37 -1 known missense c.2455 p.A819T 1.000 pfam_DUF1620 pfam_DUF1620,superfamily_Quinonprotein_ADH-like - no_errors EMC1 HGNC EMR4P 326342 genome.wustl.edu 37 19 6963770 6963770 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 6963770 6963770 G A SNP EMR4P ENST00000600751 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors EMR4P HGNC ENKD1 84080 genome.wustl.edu 37 16 67697103 67697103 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 67697103 67697103 G C SNP ENKD1 ENST00000243878 human ensembl 70_37 -1 known missense c.1002 p.I334M 0.999 NULL NULL - no_errors ENKD1 HGNC ENPP6 133121 genome.wustl.edu 37 4 185074749 185074749 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 4 185074749 185074749 G A SNP ENPP6 ENST00000296741 human ensembl 70_37 -1 known silent c.379 p.L127 0.997 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ENPP6 HGNC ENSG00000187812 0 genome.wustl.edu 37 15 76069745 76069745 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 15 76069745 76069745 G A SNP ENSG00000187812 ENST00000395215 human ensembl 70_37 +1 known rna NULL NULL 0.803 - - - no_errors RP11-24M17.5 Clone_based_vega_gene ENSG00000214652 0 genome.wustl.edu 37 7 63505960 63505960 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 63505960 63505960 G A SNP ENSG00000214652 ENST00000445978 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-3N2.13 Clone_based_vega_gene ENSG00000214776 0 genome.wustl.edu 37 12 9713515 9713515 + RNA SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 9713515 9713515 G T SNP ENSG00000214776 ENST00000520314 human ensembl 70_37 +1 known rna NULL NULL 0.948 - - - no_errors RP11-726G1.1 Clone_based_vega_gene ENSG00000223947 0 genome.wustl.edu 37 2 101611823 101611823 + RNA SNP C C A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 101611823 101611823 C A SNP ENSG00000223947 ENST00000452364 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC016738.4 Clone_based_vega_gene ENSG00000228246 0 genome.wustl.edu 37 7 2758276 2758276 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 2758276 2758276 G A SNP ENSG00000228246 ENST00000412266 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC006028.9 Clone_based_vega_gene ENSG00000232850 0 genome.wustl.edu 37 9 130890938 130890938 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 130890938 130890938 G A SNP ENSG00000232850 ENST00000443493 human ensembl 70_37 +1 known silent c.153 p.T51 0.000 NULL NULL - no_errors AL590708.2 Clone_based_ensembl_gene ENSG00000232850 0 genome.wustl.edu 37 9 130890945 130890945 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 130890945 130890945 G A SNP ENSG00000232850 ENST00000443493 human ensembl 70_37 +1 known missense c.160 p.E54K 0.045 NULL NULL - no_errors AL590708.2 Clone_based_ensembl_gene ENSG00000232850 0 genome.wustl.edu 37 9 130891140 130891140 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 130891140 130891140 G C SNP ENSG00000232850 ENST00000443493 human ensembl 70_37 +1 known missense c.355 p.E119Q 0.007 NULL NULL - no_errors AL590708.2 Clone_based_ensembl_gene ENSG00000232850 0 genome.wustl.edu 37 9 130891158 130891158 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 130891158 130891158 G C SNP ENSG00000232850 ENST00000443493 human ensembl 70_37 +1 known missense c.373 p.V125L 0.000 NULL NULL - no_errors AL590708.2 Clone_based_ensembl_gene ENSG00000238827 0 genome.wustl.edu 37 3 13779617 13779617 + RNA SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 13779617 13779617 G T SNP ENSG00000238827 ENST00000408341 human ensembl 70_37 -1 novel rna NULL NULL 0.218 - - - no_errors AC093611.1 Clone_based_ensembl_gene ENSG00000239665 0 genome.wustl.edu 37 10 13685712 13685712 + RNA SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 13685712 13685712 C T SNP ENSG00000239665 ENST00000600249 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-295P9.3 Clone_based_vega_gene ENSG00000239953 0 genome.wustl.edu 37 6 37329002 37329002 + RNA SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 37329002 37329002 G C SNP ENSG00000239953 ENST00000481561 human ensembl 70_37 +1 novel rna NULL NULL 0.004 - - - no_errors Metazoa_SRP RFAM ENSG00000249690 0 genome.wustl.edu 37 4 151500760 151500760 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 4 151500760 151500760 G A SNP ENSG00000249690 ENST00000507934 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-1336O20.2 Clone_based_vega_gene ENSG00000267432 0 genome.wustl.edu 37 17 76481128 76481128 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 76481128 76481128 G A SNP ENSG00000267432 ENST00000585969 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-559N14.5 Clone_based_vega_gene ENSG00000267566 0 genome.wustl.edu 37 17 34328559 34328559 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 34328559 34328559 G A SNP ENSG00000267566 ENST00000590192 human ensembl 70_37 +1 known rna NULL NULL 0.028 - - - no_errors RP11-104J23.1 Clone_based_vega_gene EOGT 285203 genome.wustl.edu 37 3 69054378 69054378 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 69054378 69054378 G A SNP EOGT ENST00000383701 human ensembl 70_37 -1 known missense c.428 p.S143L 0.997 NULL pfam_Glycosyltransferase_AER61 - no_errors EOGT HGNC EPHB3 2049 genome.wustl.edu 37 3 184297318 184297318 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 184297318 184297318 G A SNP EPHB3 ENST00000330394 human ensembl 70_37 +1 known missense c.1855 p.E619K 1.000 superfamily_Kinase-like_dom,pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,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 EPHB3 HGNC EPHX2 2053 genome.wustl.edu 37 8 27373884 27373884 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 27373884 27373884 G A SNP EPHX2 ENST00000521400 human ensembl 70_37 +1 known missense c.879 p.M293I 1.000 pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1 pfam_AB_hydrolase_1,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_Epox_hydrolase-like,prints_Haloacid_DH/epoxide_hydro,prints_AB_hydrolase_1,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA_v3 - no_errors EPHX2 HGNC EPS15 2060 genome.wustl.edu 37 1 51869122 51869122 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 51869122 51869122 G C SNP EPS15 ENST00000371733 human ensembl 70_37 -1 known missense c.1760 p.S587C 1.000 NULL smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15 HGNC EPS15L1 58513 genome.wustl.edu 37 19 16524625 16524625 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 16524625 16524625 C T SNP EPS15L1 ENST00000455140 human ensembl 70_37 -1 known missense c.1225 p.E409K 1.000 NULL superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15L1 HGNC ERBB2IP 55914 genome.wustl.edu 37 5 65371026 65371026 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 65371026 65371026 C T SNP ERBB2IP ENST00000284037 human ensembl 70_37 +1 known missense c.3931 p.P1311S 0.998 superfamily_PDZ pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ERCC6L 54821 genome.wustl.edu 37 X 71427447 71427447 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 X 71427447 71427447 G C SNP ERCC6L ENST00000334463 human ensembl 70_37 -1 known missense c.1170 p.I390M 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L HGNC ESRP1 54845 genome.wustl.edu 37 8 95686546 95686546 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 95686546 95686546 C T SNP ESRP1 ENST00000433389 human ensembl 70_37 +1 known missense c.1463 p.S488L 1.000 smart_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ESYT3 83850 genome.wustl.edu 37 3 138193129 138193129 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 138193129 138193129 G C SNP ESYT3 ENST00000389567 human ensembl 70_37 +1 known missense c.2403 p.R801S 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom - no_errors ESYT3 HGNC ESYT3 83850 genome.wustl.edu 37 3 138195122 138195122 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 138195122 138195122 G A SNP ESYT3 ENST00000389567 human ensembl 70_37 +1 known silent c.2526 p.V842 0.998 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom - no_errors ESYT3 HGNC ETHE1 23474 genome.wustl.edu 37 19 44012939 44012939 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 44012939 44012939 G A SNP ETHE1 ENST00000292147 human ensembl 70_37 -1 known missense c.583 p.H195Y 1.000 pfam_Beta-lactamas-like,smart_Beta-lactamas-like pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors ETHE1 HGNC EVC 2121 genome.wustl.edu 37 4 5755658 5755658 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 4 5755658 5755658 G A SNP EVC ENST00000264956 human ensembl 70_37 +1 known missense c.1462 p.E488K 0.304 NULL NULL - no_errors EVC HGNC EVC2 132884 genome.wustl.edu 37 4 5624319 5624319 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 4 5624319 5624319 C T SNP EVC2 ENST00000344408 human ensembl 70_37 -1 known missense c.2446 p.E816K 0.973 NULL pfam_Limbin - no_errors EVC2 HGNC FAM118B 79607 genome.wustl.edu 37 11 126120401 126120401 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 126120401 126120401 C T SNP FAM118B ENST00000533050 human ensembl 70_37 +1 known missense c.340 p.R114C 1.000 NULL NULL - no_errors FAM118B HGNC FAM129A 116496 genome.wustl.edu 37 1 184764821 184764821 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 184764821 184764821 C T SNP FAM129A ENST00000367511 human ensembl 70_37 -1 known missense c.2077 p.E693K 0.000 NULL NULL - no_errors FAM129A HGNC FAM129C 199786 genome.wustl.edu 37 19 17664206 17664206 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 17664206 17664206 C T SNP FAM129C ENST00000335393 human ensembl 70_37 +1 known missense c.1928 p.A643V 0.057 NULL smart_Pleckstrin_homology - no_errors FAM129C HGNC FAM135B 51059 genome.wustl.edu 37 8 139164862 139164862 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 139164862 139164862 C T SNP FAM135B ENST00000395297 human ensembl 70_37 -1 known missense c.1856 p.G619E 0.001 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC FAM155A 728215 genome.wustl.edu 37 13 108518440 108518440 + Nonsense_Mutation SNP C C A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 13 108518440 108518440 C A SNP FAM155A ENST00000375915 human ensembl 70_37 -1 known nonsense c.505 p.E169* 1.000 NULL NULL - no_errors FAM155A HGNC FAM166B 730112 genome.wustl.edu 37 9 35562970 35562970 + Missense_Mutation SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 35562970 35562970 G T SNP FAM166B ENST00000447837 human ensembl 70_37 -1 known missense c.394 p.L132I 0.006 NULL pfam_UPF0573/UPF0605 - no_errors FAM166B HGNC FAM189A2 9413 genome.wustl.edu 37 9 71986460 71986460 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 71986460 71986460 C G SNP FAM189A2 ENST00000257515 human ensembl 70_37 +1 known missense c.58 p.L20V 1.000 pfam_CD20-like pfam_CD20-like - no_errors FAM189A2 HGNC FAM26D 221301 genome.wustl.edu 37 6 116875494 116875494 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 116875494 116875494 C T SNP FAM26D ENST00000368596 human ensembl 70_37 +1 known silent c.538 p.L180 1.000 NULL NULL - no_errors FAM26D HGNC FAM47C 442444 genome.wustl.edu 37 X 37027059 37027059 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 X 37027059 37027059 G A SNP FAM47C ENST00000358047 human ensembl 70_37 +1 known silent c.576 p.E192 0.706 NULL NULL - no_errors FAM47C HGNC FAM49B 51571 genome.wustl.edu 37 8 130883699 130883699 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 130883699 130883699 C T SNP FAM49B ENST00000401979 human ensembl 70_37 -1 known silent c.117 p.V39 1.000 pfam_DUF1394 pfam_DUF1394 - no_errors FAM49B HGNC FAM49B 51571 genome.wustl.edu 37 8 130883722 130883722 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 130883722 130883722 C T SNP FAM49B ENST00000401979 human ensembl 70_37 -1 known missense c.94 p.E32K 1.000 pfam_DUF1394 pfam_DUF1394 - no_errors FAM49B HGNC FAM81B 153643 genome.wustl.edu 37 5 94727215 94727215 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 94727215 94727215 C T SNP FAM81B ENST00000283357 human ensembl 70_37 +1 known missense c.122 p.S41L 0.995 NULL NULL - no_errors FAM81B HGNC FBXL16 146330 genome.wustl.edu 37 16 744329 744329 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 744329 744329 G A SNP FBXL16 ENST00000324361 human ensembl 70_37 -1 known silent c.1386 p.P462 0.944 NULL superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors FBXL16 HGNC FBXL19 54620 genome.wustl.edu 37 16 30937143 30937143 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 30937143 30937143 G A SNP FBXL19 ENST00000380310 human ensembl 70_37 +1 known missense c.128 p.R43Q 1.000 pfam_Znf_CXXC,pfscan_Znf_CXXC pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors FBXL19 HGNC FBXL20 84961 genome.wustl.edu 37 17 37421664 37421664 + Nonsense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 37421664 37421664 G A SNP FBXL20 ENST00000264658 human ensembl 70_37 -1 known nonsense c.976 p.R326* 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL20 HGNC FBXO46 23403 genome.wustl.edu 37 19 46216131 46216131 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 46216131 46216131 C T SNP FBXO46 ENST00000317683 human ensembl 70_37 -1 known missense c.623 p.G208E 0.133 NULL superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO46 HGNC FEN1 2237 genome.wustl.edu 37 11 61563334 61563334 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 61563334 61563334 G A SNP FEN1 ENST00000305885 human ensembl 70_37 +1 known silent c.501 p.V167 1.000 pfam_XPG/RAD2_endonuclease,smart_XPG/RAD2_endonuclease,prints_XPGC_Rad_DNA_repair pfam_XPG_DNA_repair_N,pfam_XPG/RAD2_endonuclease,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_Rad_DNA_repair - no_errors FEN1 HGNC FHOD1 29109 genome.wustl.edu 37 16 67264035 67264035 + Missense_Mutation SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 67264035 67264035 G T SNP FHOD1 ENST00000258201 human ensembl 70_37 -1 known missense c.3148 p.H1050N 0.055 smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHOD1 HGNC FHOD1 29109 genome.wustl.edu 37 16 67264118 67264118 + Nonsense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 67264118 67264118 G C SNP FHOD1 ENST00000258201 human ensembl 70_37 -1 known nonsense c.3065 p.S1022* 0.541 smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHOD1 HGNC FLG2 388698 genome.wustl.edu 37 1 152327738 152327738 + Nonsense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 152327738 152327738 G A SNP FLG2 ENST00000388718 human ensembl 70_37 -1 known nonsense c.2524 p.Q842* 0.056 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG2 HGNC FLNC 2318 genome.wustl.edu 37 7 128475570 128475570 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 128475570 128475570 C T SNP FLNC ENST00000325888 human ensembl 70_37 +1 known silent c.543 p.F181 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain 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 FLRT2 23768 genome.wustl.edu 37 14 86089523 86089523 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 14 86089523 86089523 G A SNP FLRT2 ENST00000330753 human ensembl 70_37 +1 known silent c.1665 p.L555 0.045 NULL pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC FLT1 2321 genome.wustl.edu 37 13 29041146 29041146 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 13 29041146 29041146 C G SNP FLT1 ENST00000282397 human ensembl 70_37 -1 known missense c.282 p.L94F 0.991 smart_Ig_sub,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT1 HGNC FMOD 2331 genome.wustl.edu 37 1 203316711 203316711 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 203316711 203316711 G C SNP FMOD ENST00000354955 human ensembl 70_37 -1 known missense c.688 p.L230V 0.998 pfam_Leu-rich_rpt,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 FMOD HGNC FOLH1 2346 genome.wustl.edu 37 11 49228337 49228337 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 49228337 49228337 C G SNP FOLH1 ENST00000340334 human ensembl 70_37 -1 putative missense c.66 p.E22D 0.059 NULL pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC FOLH1B 219595 genome.wustl.edu 37 11 89424627 89424627 + RNA SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 89424627 89424627 C G SNP FOLH1B ENST00000525540 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors FOLH1B HGNC FRAS1 80144 genome.wustl.edu 37 4 79343130 79343130 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 4 79343130 79343130 G A SNP FRAS1 ENST00000264895 human ensembl 70_37 +1 known missense c.4654 p.E1552K 1.000 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC FSIP2 401024 genome.wustl.edu 37 2 186661203 186661203 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 186661203 186661203 G A SNP FSIP2 ENST00000343098 human ensembl 70_37 +1 known missense c.9607 p.E3203K 0.993 NULL NULL - no_errors FSIP2 HGNC FSTL5 56884 genome.wustl.edu 37 4 162380377 162380377 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 4 162380377 162380377 G A SNP FSTL5 ENST00000306100 human ensembl 70_37 -1 known missense c.1703 p.S568L 0.857 NULL pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like - no_errors FSTL5 HGNC GALNT4 8693 genome.wustl.edu 37 12 89917415 89917415 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 89917415 89917415 G C SNP GALNT4 ENST00000529983 human ensembl 70_37 -1 known missense c.912 p.I304M 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT4 HGNC GAS2L2 246176 genome.wustl.edu 37 17 34072551 34072551 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 34072551 34072551 G A SNP GAS2L2 ENST00000254466 human ensembl 70_37 -1 known silent c.1965 p.I655 0.994 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L2 HGNC GBF1 8729 genome.wustl.edu 37 10 104129049 104129049 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 104129049 104129049 C T SNP GBF1 ENST00000369983 human ensembl 70_37 +1 known missense c.3052 p.R1018C 1.000 NULL pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors GBF1 HGNC GCLM 2730 genome.wustl.edu 37 1 94367192 94367192 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 94367192 94367192 G A SNP GCLM ENST00000370238 human ensembl 70_37 -1 known missense c.226 p.H76Y 1.000 pfam_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom - no_errors GCLM HGNC GCNT3 9245 genome.wustl.edu 37 15 59911592 59911592 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 15 59911592 59911592 C T SNP GCNT3 ENST00000396065 human ensembl 70_37 +1 known silent c.1155 p.I385 0.962 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT3 HGNC GLG1 2734 genome.wustl.edu 37 16 74537580 74537580 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 74537580 74537580 C T SNP GLG1 ENST00000205061 human ensembl 70_37 -1 known missense c.623 p.R208Q 1.000 pfam_Cys-rich_GLG1_repeat pfam_Cys-rich_GLG1_repeat - no_errors GLG1 HGNC GNA15 2769 genome.wustl.edu 37 19 3162819 3162819 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 3162819 3162819 G C SNP GNA15 ENST00000262958 human ensembl 70_37 +1 known missense c.927 p.K309N 0.953 pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su,prints_Gprotein_alpha_Q pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q - no_errors GNA15 HGNC GNPNAT1 64841 genome.wustl.edu 37 14 53250150 53250150 + Missense_Mutation SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 14 53250150 53250150 G T SNP GNPNAT1 ENST00000216410 human ensembl 70_37 -1 known missense c.208 p.Q70K 1.000 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors GNPNAT1 HGNC GOLGA4 2803 genome.wustl.edu 37 3 37343796 37343796 + Nonsense_Mutation SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 37343796 37343796 G T SNP GOLGA4 ENST00000361924 human ensembl 70_37 +1 known nonsense c.1207 p.E403* 1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC GOLGB1 2804 genome.wustl.edu 37 3 121383432 121383432 + Silent SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 121383432 121383432 G C SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known silent c.9675 p.V3225 0.885 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC GON4L 54856 genome.wustl.edu 37 1 155744901 155744901 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 155744901 155744901 G C SNP GON4L ENST00000368331 human ensembl 70_37 -1 known missense c.2242 p.Q748E 1.000 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC GON4L 54856 genome.wustl.edu 37 1 155744925 155744925 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 155744925 155744925 G A SNP GON4L ENST00000368331 human ensembl 70_37 -1 known missense c.2218 p.H740Y 0.994 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC GRAMD1B 57476 genome.wustl.edu 37 11 123484181 123484181 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 123484181 123484181 C T SNP GRAMD1B ENST00000322282 human ensembl 70_37 +1 known missense c.1613 p.T538M 0.996 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1B HGNC GRID2 2895 genome.wustl.edu 37 4 94145869 94145869 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 4 94145869 94145869 C G SNP GRID2 ENST00000282020 human ensembl 70_37 +1 known missense c.1068 p.I356M 1.000 pfam_ANF_lig-bd_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC GRIK5 2901 genome.wustl.edu 37 19 42526474 42526474 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 42526474 42526474 G A SNP GRIK5 ENST00000301218 human ensembl 70_37 -1 known silent c.1506 p.I502 1.000 pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC GSTO1 9446 genome.wustl.edu 37 10 106014929 106014929 + Missense_Mutation SNP C C A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 106014929 106014929 C A SNP GSTO1 ENST00000369713 human ensembl 70_37 +1 known missense c.43 p.P15T 1.000 superfamily_Thioredoxin-like_fold pfam_GST_C,pfam_Glutathione_S-Trfase_N,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_omega - no_errors GSTO1 HGNC GTF2A2 2958 genome.wustl.edu 37 15 59934407 59934407 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 15 59934407 59934407 C T SNP GTF2A2 ENST00000396060 human ensembl 70_37 -1 known missense c.232 p.D78N 1.000 pfam_TFIIA_gsu_C,superfamily_TFIIA_b-brl,pirsf_TFIIA_gsu pfam_TFIIA_gsu_C,pfam_TFIIA_gsu_N,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pirsf_TFIIA_gsu - no_errors GTF2A2 HGNC GTF2IRD2P1 401375 genome.wustl.edu 37 7 72663974 72663974 + RNA SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 72663974 72663974 G T SNP GTF2IRD2P1 ENST00000425256 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors GTF2IRD2P1 HGNC GTF3C1 2975 genome.wustl.edu 37 16 27480781 27480781 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 27480781 27480781 C T SNP GTF3C1 ENST00000356183 human ensembl 70_37 -1 known silent c.4905 p.V1635 1.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC GUSBP5 441046 genome.wustl.edu 37 4 144481029 144481029 + RNA SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 4 144481029 144481029 C G SNP GUSBP5 ENST00000509369 human ensembl 70_37 +1 known rna NULL NULL 0.972 - - - no_errors GUSBP5 HGNC GVINP1 387751 genome.wustl.edu 37 11 6738144 6738144 + RNA SNP T T C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 6738144 6738144 T C SNP GVINP1 ENST00000526769 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors GVINP1 HGNC HDGF 3068 genome.wustl.edu 37 1 156712760 156712760 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 156712760 156712760 G A SNP HDGF ENST00000465180 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors HDGF HGNC HEATR5A 25938 genome.wustl.edu 37 14 31782183 31782183 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 14 31782183 31782183 G A SNP HEATR5A ENST00000389961 human ensembl 70_37 -1 known missense c.4414 p.P1472S 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5A HGNC HIP1 3092 genome.wustl.edu 37 7 75221789 75221789 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 75221789 75221789 G C SNP HIP1 ENST00000336926 human ensembl 70_37 -1 known missense c.228 p.F76L 0.994 pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N pfam_ANTH,pfam_ILWEQ,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ,pfscan_Epsin-like_N,pfscan_ILWEQ - no_errors HIP1 HGNC HIPK4 147746 genome.wustl.edu 37 19 40895684 40895684 + Silent SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 40895684 40895684 G C SNP HIPK4 ENST00000291823 human ensembl 70_37 -1 known silent c.126 p.L42 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors HIPK4 HGNC HIST1H1E 3008 genome.wustl.edu 37 6 26157092 26157092 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 26157092 26157092 G A SNP HIST1H1E ENST00000304218 human ensembl 70_37 +1 known silent c.474 p.A158 0.001 NULL pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1E HGNC HIST1H2BF 8343 genome.wustl.edu 37 6 26199793 26199793 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 26199793 26199793 G A SNP HIST1H2BF ENST00000359985 human ensembl 70_37 +1 known missense c.7 p.E3K 1.000 NULL pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BF HGNC HIST1H3J 8356 genome.wustl.edu 37 6 27858575 27858575 + RNA SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 27858575 27858575 G C SNP HIST1H3J ENST00000479986 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors HIST1H3J HGNC HIVEP1 3096 genome.wustl.edu 37 6 12121433 12121433 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 12121433 12121433 G A SNP HIVEP1 ENST00000379388 human ensembl 70_37 +1 known missense c.1405 p.D469N 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC HLA-B 3106 genome.wustl.edu 37 6 31323001 31323001 + Splice_Site SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 31323001 31323001 C T SNP HLA-B ENST00000412585 human ensembl 70_37 -1 known splice_site c.896-1 e5-1 0.931 - - - no_errors HLA-B HGNC HMCN1 83872 genome.wustl.edu 37 1 186014982 186014982 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 186014982 186014982 G C SNP HMCN1 ENST00000271588 human ensembl 70_37 +1 known missense c.6467 p.R2156T 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 HMGB1 3146 genome.wustl.edu 37 13 31037403 31037403 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 13 31037403 31037403 G A SNP HMGB1 ENST00000339872 human ensembl 70_37 -1 known silent c.237 p.I79 0.934 superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGB1 HGNC HNF1A 6927 genome.wustl.edu 37 12 121438965 121438965 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 121438965 121438965 C T SNP HNF1A ENST00000257555 human ensembl 70_37 +1 known silent c.1866 p.I622 1.000 pfam_HNF1a_C pfam_HNF1b_C,pfam_HNF-1_N,pfam_HNF1a_C,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeodomain,pfscan_Homeodomain - no_errors HNF1A HGNC HOMER3 9454 genome.wustl.edu 37 19 19049681 19049681 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 19049681 19049681 G C SNP HOMER3 ENST00000392351 human ensembl 70_37 -1 known missense c.27 p.I9M 1.000 pfam_EVH1,smart_EVH1,pfscan_EVH1 pfam_EVH1,smart_EVH1,pfscan_EVH1 - no_errors HOMER3 HGNC HOXC12 3228 genome.wustl.edu 37 12 54348984 54348984 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 54348984 54348984 G A SNP HOXC12 ENST00000243103 human ensembl 70_37 +1 known missense c.271 p.G91S 0.998 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXC12 HGNC HSD17B11 51170 genome.wustl.edu 37 4 88295859 88295859 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 4 88295859 88295859 G A SNP HSD17B11 ENST00000358290 human ensembl 70_37 -1 known missense c.442 p.H148Y 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 - no_errors HSD17B11 HGNC HSPG2 3339 genome.wustl.edu 37 1 22166489 22166489 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 22166489 22166489 C T SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known missense c.9535 p.D3179N 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_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC IDO2 169355 genome.wustl.edu 37 8 39847324 39847324 + Nonsense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 39847324 39847324 C T SNP IDO2 ENST00000502986 human ensembl 70_37 +1 known nonsense c.673 p.Q225* 0.992 pfam_Indolamine_dOase pfam_Indolamine_dOase - no_errors IDO2 HGNC IL17D 53342 genome.wustl.edu 37 13 21277372 21277372 + RNA SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 13 21277372 21277372 C T SNP IL17D ENST00000498088 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors IL17D HGNC IL1R2 7850 genome.wustl.edu 37 2 102632495 102632495 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 102632495 102632495 G A SNP IL1R2 ENST00000332549 human ensembl 70_37 +1 known silent c.495 p.V165 0.001 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_Interleukin-1_rcpt_II pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_Interleukin-1_rcpt_II,prints_IL1_rcpt_I/II - no_errors IL1R2 HGNC INA 9118 genome.wustl.edu 37 10 105048215 105048215 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 105048215 105048215 G A SNP INA ENST00000369849 human ensembl 70_37 +1 known missense c.1289 p.R430K 0.991 NULL pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors INA HGNC IPO9 55705 genome.wustl.edu 37 1 201838797 201838797 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 201838797 201838797 C G SNP IPO9 ENST00000361565 human ensembl 70_37 +1 known missense c.2084 p.P695R 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO9 HGNC IQCG 84223 genome.wustl.edu 37 3 197616441 197616441 + RNA SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 197616441 197616441 G C SNP IQCG ENST00000485787 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors IQCG HGNC IQGAP1 8826 genome.wustl.edu 37 15 90983760 90983760 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 15 90983760 90983760 G A SNP IQGAP1 ENST00000268182 human ensembl 70_37 +1 known missense c.562 p.E188K 1.000 superfamily_CH-domain pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP1 HGNC IQGAP2 10788 genome.wustl.edu 37 5 76003274 76003274 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 76003274 76003274 G A SNP IQGAP2 ENST00000508410 human ensembl 70_37 +1 putative rna NULL NULL 0.018 - - - no_errors IQGAP2 HGNC ITGA2 3673 genome.wustl.edu 37 5 52351382 52351382 + Nonsense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 52351382 52351382 C G SNP ITGA2 ENST00000296585 human ensembl 70_37 +1 known nonsense c.794 p.S265* 0.989 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA2 HGNC ITGB1 3688 genome.wustl.edu 37 10 33218789 33218789 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 33218789 33218789 G C SNP ITGB1 ENST00000374956 human ensembl 70_37 -1 known missense c.337 p.Q113E 1.000 pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,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 ITGB1 HGNC ITPKC 80271 genome.wustl.edu 37 19 41223322 41223322 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 41223322 41223322 G C SNP ITPKC ENST00000263370 human ensembl 70_37 +1 known missense c.282 p.Q94H 0.005 NULL pfam_IPK - no_errors ITPKC HGNC ITSN2 50618 genome.wustl.edu 37 2 24498643 24498643 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 24498643 24498643 C T SNP ITSN2 ENST00000355123 human ensembl 70_37 -1 known missense c.2020 p.E674K 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ITSN2 50618 genome.wustl.edu 37 2 24521654 24521654 + Silent SNP A A G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 24521654 24521654 A G SNP ITSN2 ENST00000355123 human ensembl 70_37 -1 known silent c.1374 p.R458 0.308 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC JMJD1C 221037 genome.wustl.edu 37 10 64974005 64974005 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 64974005 64974005 G A SNP JMJD1C ENST00000399262 human ensembl 70_37 -1 known missense c.1922 p.S641L 0.998 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC JMJD1C 221037 genome.wustl.edu 37 10 64974350 64974350 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 64974350 64974350 G A SNP JMJD1C ENST00000399262 human ensembl 70_37 -1 known missense c.1577 p.S526L 0.998 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC KCNK2 3776 genome.wustl.edu 37 1 215256745 215256745 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 215256745 215256745 C T SNP KCNK2 ENST00000444842 human ensembl 70_37 +1 known missense c.17 p.S6L 1.000 NULL pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK2 HGNC KDM5B 10765 genome.wustl.edu 37 1 202702904 202702904 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 202702904 202702904 G A SNP KDM5B ENST00000367265 human ensembl 70_37 -1 known silent c.3534 p.I1178 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC KIAA0020 9933 genome.wustl.edu 37 9 2823795 2823795 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 2823795 2823795 C G SNP KIAA0020 ENST00000397885 human ensembl 70_37 -1 known missense c.1174 p.E392Q 0.995 superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors KIAA0020 HGNC KIAA1009 22832 genome.wustl.edu 37 6 84913791 84913791 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 84913791 84913791 C T SNP KIAA1009 ENST00000403245 human ensembl 70_37 -1 known missense c.595 p.D199N 1.000 NULL NULL - no_errors KIAA1009 HGNC KIF26B 55083 genome.wustl.edu 37 1 245847666 245847666 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 245847666 245847666 G A SNP KIF26B ENST00000407071 human ensembl 70_37 +1 known missense c.2390 p.R797K 0.765 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC KIR3DX1 90011 genome.wustl.edu 37 19 55053855 55053855 + Splice_Site SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 55053855 55053855 G A SNP KIR3DX1 ENST00000221567 human ensembl 70_37 +1 known splice_site c.1059+1 e7+1 0.066 - - - no_errors KIR3DX1 HGNC KITLG 4254 genome.wustl.edu 37 12 88910219 88910219 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 88910219 88910219 C T SNP KITLG ENST00000228280 human ensembl 70_37 -1 known missense c.412 p.E138K 1.000 pfam_SCF,superfamily_4_helix_cytokine-like_core,pirsf_SCF pfam_SCF,superfamily_4_helix_cytokine-like_core,pirsf_SCF - no_errors KITLG HGNC KLF5 688 genome.wustl.edu 37 13 73636078 73636078 + Missense_Mutation SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 13 73636078 73636078 G T SNP KLF5 ENST00000377687 human ensembl 70_37 +1 known missense c.341 p.R114L 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF5 HGNC KLHL14 57565 genome.wustl.edu 37 18 30350522 30350522 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 18 30350522 30350522 G A SNP KLHL14 ENST00000359358 human ensembl 70_37 -1 known silent c.33 p.F11 1.000 superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL14 HGNC KRTAP13-3 337960 genome.wustl.edu 37 21 31798199 31798199 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 21 31798199 31798199 G A SNP KRTAP13-3 ENST00000390690 human ensembl 70_37 -1 known missense c.32 p.S11F 0.998 pfam_PMG pfam_PMG - no_errors KRTAP13-3 HGNC LCA5L 150082 genome.wustl.edu 37 21 40777909 40777909 + Nonsense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 21 40777909 40777909 G A SNP LCA5L ENST00000288350 human ensembl 70_37 -1 known nonsense c.1912 p.Q638* 0.567 NULL NULL - no_errors LCA5L HGNC LCA5L 150082 genome.wustl.edu 37 21 40777980 40777980 + Nonsense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 21 40777980 40777980 G C SNP LCA5L ENST00000288350 human ensembl 70_37 -1 known nonsense c.1841 p.S614* 0.001 NULL NULL - no_errors LCA5L HGNC LCA5L 150082 genome.wustl.edu 37 21 40778144 40778144 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 21 40778144 40778144 G A SNP LCA5L ENST00000288350 human ensembl 70_37 -1 known silent c.1677 p.L559 0.000 NULL NULL - no_errors LCA5L HGNC LINC00242 401288 genome.wustl.edu 37 6 170190344 170190344 + RNA SNP C C A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 170190344 170190344 C A SNP LINC00242 ENST00000437615 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00242 HGNC LINC00243 401247 genome.wustl.edu 37 6 30782146 30782146 + RNA SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 30782146 30782146 C G SNP LINC00243 ENST00000399196 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00243 HGNC LINC00654 149837 genome.wustl.edu 37 20 5479672 5479672 + RNA SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 20 5479672 5479672 C T SNP LINC00654 ENST00000379053 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00654 HGNC LIPK 643414 genome.wustl.edu 37 10 90492212 90492212 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 90492212 90492212 G A SNP LIPK ENST00000404190 human ensembl 70_37 +1 known silent c.573 p.K191 0.996 pfam_AB_hydrolase_1 pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPK HGNC LOC100129620 100129620 genome.wustl.edu 37 1 99469973 99469973 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 99469973 99469973 G A SNP LOC100129620 ENST00000425113 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP5-896L10.1 Clone_based_vega_gene LONP1 9361 genome.wustl.edu 37 19 5696116 5696116 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 5696116 5696116 C G SNP LONP1 ENST00000360614 human ensembl 70_37 -1 known missense c.1962 p.E654D 1.000 pfam_ATPase_AAA_core,smart_AAA+_ATPase,tigrfam_Pept_S16_lon pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon - no_errors LONP1 HGNC LRP5L 91355 genome.wustl.edu 37 22 25756029 25756029 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 22 25756029 25756029 C T SNP LRP5L ENST00000402785 human ensembl 70_37 -1 known missense c.31 p.E11K 1.000 pfscan_LDLR_classB_rpt pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5L HGNC LRPPRC 10128 genome.wustl.edu 37 2 44145397 44145397 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 44145397 44145397 C T SNP LRPPRC ENST00000260665 human ensembl 70_37 -1 known missense c.3037 p.E1013K 0.958 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC MAATS1 89876 genome.wustl.edu 37 3 119434565 119434565 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 119434565 119434565 C T SNP MAATS1 ENST00000273390 human ensembl 70_37 +1 known silent c.657 p.L219 0.728 NULL superfamily_S-AdoMet_deCO2ase_core - no_errors MAATS1 HGNC MAN1B1 11253 genome.wustl.edu 37 9 140002950 140002950 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 140002950 140002950 C G SNP MAN1B1 ENST00000371589 human ensembl 70_37 +1 known missense c.2007 p.F669L 0.981 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1B1 HGNC MAP1A 4130 genome.wustl.edu 37 15 43821015 43821015 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 15 43821015 43821015 C T SNP MAP1A ENST00000399453 human ensembl 70_37 +1 known silent c.7344 p.L2448 0.996 NULL NULL - no_errors MAP1A HGNC MAPK9 5601 genome.wustl.edu 37 5 179668047 179668047 + Missense_Mutation SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 179668047 179668047 G T SNP MAPK9 ENST00000452135 human ensembl 70_37 -1 known missense c.980 p.P327H 1.000 superfamily_Kinase-like_dom,prints_MAPK_JNK pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK - no_errors MAPK9 HGNC MAST3 23031 genome.wustl.edu 37 19 18239690 18239690 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 18239690 18239690 C T SNP MAST3 ENST00000262811 human ensembl 70_37 +1 known silent c.1065 p.V355 0.000 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST3 HGNC MAU2 23383 genome.wustl.edu 37 19 19452111 19452111 + Silent SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 19452111 19452111 C G SNP MAU2 ENST00000262815 human ensembl 70_37 +1 known silent c.630 p.L210 1.000 pfam_Cohesin_loading_factor pfam_Cohesin_loading_factor,smart_TPR_repeat - no_errors MAU2 HGNC MBNL1 4154 genome.wustl.edu 37 3 152017352 152017352 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 152017352 152017352 G A SNP MBNL1 ENST00000461436 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors MBNL1 HGNC MBOAT7 79143 genome.wustl.edu 37 19 54691159 54691159 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 54691159 54691159 C T SNP MBOAT7 ENST00000245615 human ensembl 70_37 -1 known missense c.217 p.A73T 0.995 NULL pfam_MBOAT_fam - no_errors MBOAT7 HGNC MDN1 23195 genome.wustl.edu 37 6 90435005 90435005 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 90435005 90435005 C G SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.5583 p.K1861N 1.000 pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,smart_AAA+_ATPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC MED13 9969 genome.wustl.edu 37 17 60039009 60039009 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 60039009 60039009 C T SNP MED13 ENST00000397786 human ensembl 70_37 -1 known silent c.5196 p.V1732 0.992 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC MEF2D 4209 genome.wustl.edu 37 1 156437234 156437234 + RNA SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 156437234 156437234 C T SNP MEF2D ENST00000464356 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MEF2D HGNC MEI1 150365 genome.wustl.edu 37 22 42128517 42128517 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 22 42128517 42128517 G C SNP MEI1 ENST00000401548 human ensembl 70_37 +1 known missense c.1241 p.R414T 0.662 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MEI1 HGNC MGEA5 10724 genome.wustl.edu 37 10 103577777 103577777 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 103577777 103577777 C T SNP MGEA5 ENST00000361464 human ensembl 70_37 -1 known missense c.3 p.M1I 1.000 NULL pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF,superfamily_Acyl_CoA_acyltransferase - no_errors MGEA5 HGNC MGRN1 23295 genome.wustl.edu 37 16 4674988 4674988 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 4674988 4674988 C G SNP MGRN1 ENST00000262370 human ensembl 70_37 +1 known missense c.27 p.I9M 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors MGRN1 HGNC MIR3609 100500819 genome.wustl.edu 37 7 98479347 98479347 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 98479347 98479347 G A SNP MIR3609 ENST00000582661 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR3609 HGNC MLH3 27030 genome.wustl.edu 37 14 75516266 75516266 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 14 75516266 75516266 G A SNP MLH3 ENST00000355774 human ensembl 70_37 -1 known silent c.93 p.L31 0.997 pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C - no_errors MLH3 HGNC KMT2D 8085 genome.wustl.edu 37 12 49434544 49434544 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 49434544 49434544 G C SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known missense c.7009 p.Q2337E 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC KMT2D 8085 genome.wustl.edu 37 12 49434618 49434618 + Nonsense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 49434618 49434618 G C SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known nonsense c.6935 p.S2312* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC KMT2D 8085 genome.wustl.edu 37 12 49435470 49435470 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 49435470 49435470 G A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known missense c.6202 p.R2068W 1.000 superfamily_HMG_superfamily,smart_HMG_superfamily pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC KMT2D 8085 genome.wustl.edu 37 12 49438611 49438611 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 49438611 49438611 C T SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known missense c.4879 p.E1627K 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC KMT2D 8085 genome.wustl.edu 37 12 49440150 49440150 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 49440150 49440150 C T SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known silent c.4476 p.Q1492 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC KMT2D 8085 genome.wustl.edu 37 12 49442510 49442510 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 49442510 49442510 C T SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known missense c.4063 p.E1355K 1.000 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC KMT2D 8085 genome.wustl.edu 37 12 49442540 49442540 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 49442540 49442540 C G SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known missense c.4033 p.D1345H 0.999 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC KMT2D 8085 genome.wustl.edu 37 12 49442546 49442546 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 49442546 49442546 C T SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known missense c.4027 p.D1343N 1.000 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC MRAP2 112609 genome.wustl.edu 37 6 84772652 84772652 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 84772652 84772652 C T SNP MRAP2 ENST00000257776 human ensembl 70_37 +1 known silent c.168 p.F56 0.829 NULL NULL - no_errors MRAP2 HGNC MSLNL 401827 genome.wustl.edu 37 16 822892 822892 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 822892 822892 C T SNP MSLNL ENST00000293892 human ensembl 70_37 -1 known missense c.2293 p.E765K 0.576 pfam_Mesothelin pfam_Mesothelin - no_errors MSLNL HGNC MT-ND5 4540 genome.wustl.edu 37 MT 12609 12609 + Silent SNP T T C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 MT 12609 12609 T C SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known silent c.273 p.P91 NULL pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC MTMR11 10903 genome.wustl.edu 37 1 149908229 149908229 + RNA SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 149908229 149908229 G C SNP MTMR11 ENST00000482025 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MTMR11 HGNC MTOR 2475 genome.wustl.edu 37 1 11168296 11168296 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 11168296 11168296 C T SNP MTOR ENST00000361445 human ensembl 70_37 -1 known missense c.7576 p.E2526K 1.000 pfam_FATC,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC MUC2 4583 genome.wustl.edu 37 11 1092256 1092256 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 1092256 1092256 G A SNP MUC2 ENST00000441003 human ensembl 70_37 +1 known missense c.4075 p.V1359I 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC MUC4 4585 genome.wustl.edu 37 3 195508444 195508444 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 195508444 195508444 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.10007 p.S3336L 0.191 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 195509740 195509740 + Nonsense_Mutation SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 195509740 195509740 G T SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known nonsense c.8711 p.S2904* 0.713 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 195510815 195510815 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 195510815 195510815 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.7636 p.H2546Y 0.340 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 MUTYH 4595 genome.wustl.edu 37 1 45799177 45799177 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 45799177 45799177 G C SNP MUTYH ENST00000450313 human ensembl 70_37 -1 known missense c.256 p.L86V 0.345 NULL pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,superfamily_NUDIX_hydrolase_dom-like,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif - no_errors MUTYH HGNC MX2 4600 genome.wustl.edu 37 21 42771122 42771122 + Splice_Site SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 21 42771122 42771122 G A SNP MX2 ENST00000330714 human ensembl 70_37 +1 known splice_site c.1273-1 e9-1 1.000 - - - no_errors MX2 HGNC MXRA5 25878 genome.wustl.edu 37 X 3229384 3229384 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 X 3229384 3229384 G A SNP MXRA5 ENST00000217939 human ensembl 70_37 -1 known missense c.6860 p.S2287F 0.334 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC MYH15 22989 genome.wustl.edu 37 3 108220642 108220642 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 108220642 108220642 C T SNP MYH15 ENST00000273353 human ensembl 70_37 -1 known missense c.316 p.E106K 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC MYH7B 57644 genome.wustl.edu 37 20 33565461 33565461 + Missense_Mutation SNP C C A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 20 33565461 33565461 C A SNP MYH7B ENST00000262873 human ensembl 70_37 +1 novel missense c.32 p.S11Y 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC MYL5 4636 genome.wustl.edu 37 4 672505 672505 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 4 672505 672505 C T SNP MYL5 ENST00000400159 human ensembl 70_37 +1 known missense c.62 p.S21F 0.999 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MYL5 HGNC MYO7B 4648 genome.wustl.edu 37 2 128387388 128387388 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 128387388 128387388 C T SNP MYO7B ENST00000389524 human ensembl 70_37 +1 known missense c.4715 p.S1572L 0.998 superfamily_SH3_domain 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 NBPF10 100132406 genome.wustl.edu 37 1 145296382 145296382 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 145296382 145296382 C G SNP NBPF10 ENST00000342960 human ensembl 70_37 +1 known missense c.304 p.Q102E 0.002 NULL pfam_NBPF_dom - no_errors NBPF10 HGNC NCOA5 57727 genome.wustl.edu 37 20 44692204 44692204 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 20 44692204 44692204 C G SNP NCOA5 ENST00000290231 human ensembl 70_37 -1 known missense c.945 p.K315N 1.000 superfamily_Anticodon-bd superfamily_Anticodon-bd - no_errors NCOA5 HGNC NCOR2 9612 genome.wustl.edu 37 12 124821320 124821320 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 124821320 124821320 C G SNP NCOR2 ENST00000356219 human ensembl 70_37 -1 known missense c.6115 p.E2039Q 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC NDEL1 81565 genome.wustl.edu 37 17 8354172 8354172 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 8354172 8354172 C G SNP NDEL1 ENST00000299734 human ensembl 70_37 +1 known missense c.601 p.L201V 0.386 pfam_NUDE_C pfam_NUDE_C - no_errors NDEL1 HGNC NECAB2 54550 genome.wustl.edu 37 16 84034404 84034404 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 84034404 84034404 G C SNP NECAB2 ENST00000305202 human ensembl 70_37 +1 known missense c.1038 p.K346N 1.000 pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NECAB2 HGNC NF1 4763 genome.wustl.edu 37 17 29661936 29661936 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 29661936 29661936 G A SNP NF1 ENST00000358273 human ensembl 70_37 +1 known missense c.5893 p.D1965N 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC NFU1 27247 genome.wustl.edu 37 2 69633183 69633183 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 69633183 69633183 C T SNP NFU1 ENST00000410022 human ensembl 70_37 -1 known missense c.516 p.M172I 1.000 pirsf_HIRA-interacting_protein_5 pfam_NIF_FeS_clus_asmbl_NifU-like_N,pfam_NIF_FeS_clus_asmbl_NifU_C,superfamily_NIF_FeS_clus_asmbl_NifU-like_N,smart_NIF_FeS_clus_asmbl_NifU-like_N,pirsf_HIRA-interacting_protein_5 - no_errors NFU1 HGNC NIPBL 25836 genome.wustl.edu 37 5 37057342 37057342 + Missense_Mutation SNP T T A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 37057342 37057342 T A SNP NIPBL ENST00000282516 human ensembl 70_37 +1 known missense c.7318 p.Y2440N 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC NOL11 25926 genome.wustl.edu 37 17 65714108 65714108 + Silent SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 65714108 65714108 G C SNP NOL11 ENST00000253247 human ensembl 70_37 +1 known silent c.45 p.L15 0.977 NULL pfam_NUC205 - no_errors NOL11 HGNC NOTCH2 4853 genome.wustl.edu 37 1 120462868 120462868 + Silent SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 120462868 120462868 C G SNP NOTCH2 ENST00000256646 human ensembl 70_37 -1 known silent c.5463 p.V1821 1.000 pirsf_Notch,pfscan_Ankyrin_rpt-contain_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC NOTCH3 4854 genome.wustl.edu 37 19 15272415 15272415 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 15272415 15272415 C T SNP NOTCH3 ENST00000263388 human ensembl 70_37 -1 known silent c.6024 p.P2008 0.029 superfamily_Ankyrin_rpt-contain_dom,pirsf_Notch,pfscan_Ankyrin_rpt-contain_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom - no_errors NOTCH3 HGNC NPAS2 4862 genome.wustl.edu 37 2 101591925 101591925 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 101591925 101591925 C G SNP NPAS2 ENST00000542504 human ensembl 70_37 +1 known missense c.1483 p.P495A 0.980 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_HLH_dom,tigrfam_PAS - no_errors NPAS2 HGNC NR2F2 7026 genome.wustl.edu 37 15 96880846 96880846 + Nonsense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 15 96880846 96880846 C T SNP NR2F2 ENST00000394166 human ensembl 70_37 +1 known nonsense c.1240 p.Q414* 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors NR2F2 HGNC NSMAF 8439 genome.wustl.edu 37 8 59518528 59518528 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 59518528 59518528 G C SNP NSMAF ENST00000427130 human ensembl 70_37 -1 known missense c.919 p.Q307E 1.000 superfamily_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NSMAF HGNC NTMT1 28989 genome.wustl.edu 37 9 132395141 132395141 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 132395141 132395141 G C SNP NTMT1 ENST00000372480 human ensembl 70_37 +1 known missense c.159 p.L53F 1.000 pfam_DUF858_MeTrfase_lik,pirsf_DUF858_MeTrfase_lik pfam_DUF858_MeTrfase_lik,pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_O_MeTrfase_2,pirsf_DUF858_MeTrfase_lik - no_errors NTMT1 HGNC NTPCR 84284 genome.wustl.edu 37 1 233091309 233091309 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 233091309 233091309 G C SNP NTPCR ENST00000366627 human ensembl 70_37 +1 known missense c.41 p.G14A 1.000 pfam_Nuc-triphosphatase_THEP1,smart_AAA+_ATPase pfam_Nuc-triphosphatase_THEP1,smart_AAA+_ATPase - no_errors NTPCR HGNC NTRK3 4916 genome.wustl.edu 37 15 88680693 88680693 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 15 88680693 88680693 G A SNP NTRK3 ENST00000360948 human ensembl 70_37 -1 known silent c.564 p.Y188 1.000 smart_Cys-rich_flank_reg_C pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NTRK3 HGNC NUMB 8650 genome.wustl.edu 37 14 73743895 73743895 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 14 73743895 73743895 C G SNP NUMB ENST00000355058 human ensembl 70_37 -1 known missense c.1347 p.K449N 1.000 pirsf_Numb/numb-like pfam_Numb_domain,pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pirsf_Numb/numb-like,pfscan_PTyr_interaction_dom - no_errors NUMB HGNC NXN 64359 genome.wustl.edu 37 17 729296 729296 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 729296 729296 C T SNP NXN ENST00000336868 human ensembl 70_37 -1 known missense c.383 p.R128Q 1.000 superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold - no_errors NXN HGNC OBSCN 84033 genome.wustl.edu 37 1 228461607 228461607 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 228461607 228461607 G A SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known silent c.5274 p.E1758 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_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC OCRL 4952 genome.wustl.edu 37 X 128696373 128696373 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 X 128696373 128696373 C T SNP OCRL ENST00000371113 human ensembl 70_37 +1 known missense c.952 p.R318C 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors OCRL HGNC OOEP 441161 genome.wustl.edu 37 6 74078950 74078950 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 74078950 74078950 G A SNP OOEP ENST00000370359 human ensembl 70_37 -1 known missense c.349 p.H117Y 0.000 NULL NULL - no_errors OOEP HGNC OR10X1 128367 genome.wustl.edu 37 1 158549459 158549459 + Silent SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 158549459 158549459 G C SNP OR10X1 ENST00000368150 human ensembl 70_37 -1 known silent c.231 p.L77 0.832 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10X1 HGNC OR13C2 392376 genome.wustl.edu 37 9 107367884 107367884 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 107367884 107367884 G C SNP OR13C2 ENST00000542196 human ensembl 70_37 -1 known missense c.25 p.L9V 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C2 HGNC OR2AJ1 127608 genome.wustl.edu 37 1 248097469 248097469 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 248097469 248097469 G A SNP OR2AJ1 ENST00000318244 human ensembl 70_37 +1 known silent c.399 p.P133 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2AJ1 HGNC OR52R1 119695 genome.wustl.edu 37 11 4824913 4824913 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 4824913 4824913 G A SNP OR52R1 ENST00000380382 human ensembl 70_37 -1 known missense c.935 p.S312L 0.001 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 OR52R1 HGNC OSBPL5 114879 genome.wustl.edu 37 11 3140812 3140812 + Missense_Mutation SNP C C A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 3140812 3140812 C A SNP OSBPL5 ENST00000263650 human ensembl 70_37 -1 known missense c.656 p.S219I 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL5 HGNC OVCH1 341350 genome.wustl.edu 37 12 29631791 29631791 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 29631791 29631791 C T SNP OVCH1 ENST00000318184 human ensembl 70_37 -1 known missense c.1046 p.R349Q 0.959 superfamily_CUB,pfscan_CUB pfam_Peptidase_S1_S6,pfam_CUB,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,smart_Peptidase_S1_S6,smart_CUB,pfscan_CUB,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors OVCH1 HGNC PARP9 83666 genome.wustl.edu 37 3 122274229 122274229 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 122274229 122274229 C T SNP PARP9 ENST00000360356 human ensembl 70_37 -1 known silent c.894 p.K298 0.000 NULL pfam_A1pp,smart_A1pp,pfscan_A1pp,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP9 HGNC PCDH12 51294 genome.wustl.edu 37 5 141336489 141336489 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 141336489 141336489 G A SNP PCDH12 ENST00000231484 human ensembl 70_37 -1 known silent c.928 p.L310 0.922 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC PCGF6 84108 genome.wustl.edu 37 10 105107191 105107191 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 105107191 105107191 G C SNP PCGF6 ENST00000369847 human ensembl 70_37 -1 known missense c.574 p.Q192E 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF6 HGNC PCNXL3 399909 genome.wustl.edu 37 11 65395032 65395032 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 65395032 65395032 C T SNP PCNXL3 ENST00000355703 human ensembl 70_37 +1 known silent c.3681 p.L1227 1.000 NULL pfam_Pecanex - no_errors PCNXL3 HGNC PDILT 204474 genome.wustl.edu 37 16 20380942 20380942 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 20380942 20380942 C T SNP PDILT ENST00000302451 human ensembl 70_37 -1 known missense c.988 p.E330K 0.000 superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors PDILT HGNC PDZD3 79849 genome.wustl.edu 37 11 119057178 119057178 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 119057178 119057178 C T SNP PDZD3 ENST00000392817 human ensembl 70_37 +1 known missense c.307 p.H103Y 0.000 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD3 HGNC PILRB 29990 genome.wustl.edu 37 7 99949970 99949970 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 99949970 99949970 G A SNP PILRB ENST00000470714 human ensembl 70_37 +1 known rna NULL NULL 0.012 - - - no_errors PILRB HGNC PINK1 65018 genome.wustl.edu 37 1 20977205 20977205 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 20977205 20977205 G A SNP PINK1 ENST00000400490 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors PINK1 HGNC PKIB 5570 genome.wustl.edu 37 6 123039060 123039060 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 123039060 123039060 G A SNP PKIB ENST00000368446 human ensembl 70_37 +1 known missense c.148 p.G50R 0.059 pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI - no_errors PKIB HGNC PLEKHA8 84725 genome.wustl.edu 37 7 30092483 30092483 + Splice_Site SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 30092483 30092483 G C SNP PLEKHA8 ENST00000449726 human ensembl 70_37 +1 known splice_site c.796+1 e7+1 1.000 - - - no_errors PLEKHA8 HGNC PMS2 5395 genome.wustl.edu 37 7 6018285 6018285 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 6018285 6018285 C T SNP PMS2 ENST00000265849 human ensembl 70_37 -1 known silent c.2217 p.L739 0.988 pfam_MutL_C,smart_MutL_C pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N - no_errors PMS2 HGNC POGZ 23126 genome.wustl.edu 37 1 151403234 151403234 + Nonsense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 151403234 151403234 G A SNP POGZ ENST00000271715 human ensembl 70_37 -1 known nonsense c.367 p.Q123* 1.000 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC PPP2R5E 5529 genome.wustl.edu 37 14 64006361 64006361 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 14 64006361 64006361 C G SNP PPP2R5E ENST00000337537 human ensembl 70_37 -1 known missense c.43 p.D15H 1.000 pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5E HGNC PPP4R1L 55370 genome.wustl.edu 37 20 56825954 56825954 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 20 56825954 56825954 C G SNP PPP4R1L ENST00000334187 human ensembl 70_37 -1 known missense c.598 p.E200Q 1.000 superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R1L HGNC PPP5C 5536 genome.wustl.edu 37 19 46857221 46857221 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 46857221 46857221 G A SNP PPP5C ENST00000012443 human ensembl 70_37 +1 known missense c.338 p.R113Q 1.000 pfam_TPR-1,smart_TPR_repeat,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_Metallo_PEstase_dom,pfam_PPP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP5C HGNC NPY4R 5540 genome.wustl.edu 37 10 47087122 47087122 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 47087122 47087122 C T SNP PPYR1 ENST00000374312 human ensembl 70_37 +1 known silent c.339 p.L113 0.502 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PPYR1 HGNC PRDM16 63976 genome.wustl.edu 37 1 3334454 3334454 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 3334454 3334454 G A SNP PRDM16 ENST00000270722 human ensembl 70_37 +1 known silent c.2754 p.S918 0.012 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC PREX2 80243 genome.wustl.edu 37 8 68968202 68968202 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 68968202 68968202 C T SNP PREX2 ENST00000288368 human ensembl 70_37 +1 known missense c.1231 p.L411F 1.000 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,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 PREX2 HGNC PRKCA 5578 genome.wustl.edu 37 17 64800031 64800031 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 64800031 64800031 G A SNP PRKCA ENST00000413366 human ensembl 70_37 +1 known missense c.1895 p.R632Q 1.000 pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCA HGNC PRKRIR 5612 genome.wustl.edu 37 11 76062771 76062771 + Missense_Mutation SNP A A G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 76062771 76062771 A G SNP PRKRIR ENST00000260045 human ensembl 70_37 -1 known missense c.1423 p.S475P 0.978 superfamily_RNaseH-like_dom pfam_Znf_C2CH,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors PRKRIR HGNC PRMT8 56341 genome.wustl.edu 37 12 3703117 3703117 + RNA SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 3703117 3703117 C G SNP PRMT8 ENST00000261252 human ensembl 70_37 +1 known rna NULL NULL 0.980 - - - no_errors PRMT8 HGNC PROS1 5627 genome.wustl.edu 37 3 93624964 93624964 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 93624964 93624964 G A SNP PROS1 ENST00000394236 human ensembl 70_37 -1 known silent c.370 p.L124 0.974 pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EGF-like_Ca-bd,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors PROS1 HGNC PRSS23 11098 genome.wustl.edu 37 11 86519256 86519256 + Nonsense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 86519256 86519256 C T SNP PRSS23 ENST00000280258 human ensembl 70_37 +1 known nonsense c.571 p.R191* 0.893 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like - no_errors PRSS23 HGNC PSD 5662 genome.wustl.edu 37 10 104174660 104174660 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 104174660 104174660 C T SNP PSD ENST00000020673 human ensembl 70_37 -1 known missense c.1084 p.D362N 1.000 NULL pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type - no_errors PSD HGNC PSG4 5672 genome.wustl.edu 37 19 43708175 43708175 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 43708175 43708175 C G SNP PSG4 ENST00000405312 human ensembl 70_37 -1 known missense c.293 p.R98T 0.007 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG4 HGNC PTPRD 5789 genome.wustl.edu 37 9 8454584 8454584 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 8454584 8454584 C T SNP PTPRD ENST00000355233 human ensembl 70_37 -1 known missense c.2653 p.D885N 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC PTPRT 11122 genome.wustl.edu 37 20 40877392 40877392 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 20 40877392 40877392 G A SNP PTPRT ENST00000373198 human ensembl 70_37 -1 known silent c.2304 p.G768 0.542 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC PUM2 23369 genome.wustl.edu 37 2 20494214 20494214 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 20494214 20494214 G C SNP PUM2 ENST00000361078 human ensembl 70_37 -1 known missense c.1075 p.Q359E 1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM2 HGNC PXN 5829 genome.wustl.edu 37 12 120659471 120659471 + Silent SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 120659471 120659471 G T SNP PXN ENST00000267257 human ensembl 70_37 -1 known silent c.786 p.A262 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM,prints_Paxillin - no_errors PXN HGNC RAP1GAP2 23108 genome.wustl.edu 37 17 2923826 2923826 + Missense_Mutation SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 2923826 2923826 G T SNP RAP1GAP2 ENST00000542807 human ensembl 70_37 +1 known missense c.1688 p.R563L 1.000 NULL pfam_Rap_GAP,pfscan_Rap_GAP - no_errors RAP1GAP2 HGNC RARRES1 5918 genome.wustl.edu 37 3 158428576 158428576 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 158428576 158428576 G A SNP RARRES1 ENST00000237696 human ensembl 70_37 -1 known silent c.486 p.Y162 0.966 pfam_Prot_inh_latexin,pirsf_Prot_inh_latexin pfam_Prot_inh_latexin,pirsf_Prot_inh_latexin - no_errors RARRES1 HGNC RASGRF1 5923 genome.wustl.edu 37 15 79327552 79327552 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 15 79327552 79327552 G A SNP RASGRF1 ENST00000419573 human ensembl 70_37 -1 known silent c.879 p.S293 0.908 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC RBL2 5934 genome.wustl.edu 37 16 53503923 53503923 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 53503923 53503923 G A SNP RBL2 ENST00000262133 human ensembl 70_37 +1 known missense c.2071 p.D691N 0.998 NULL pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL2 HGNC RBP7 116362 genome.wustl.edu 37 1 10075889 10075889 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 10075889 10075889 G A SNP RBP7 ENST00000315901 human ensembl 70_37 +1 known silent c.545 p.*182 0.994 NULL pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like - no_errors RBP7 HGNC RGCC 28984 genome.wustl.edu 37 13 42032533 42032533 + Missense_Mutation SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 13 42032533 42032533 G T SNP RGCC ENST00000379359 human ensembl 70_37 +1 known missense c.162 p.E54D 1.000 NULL NULL - no_errors RGCC HGNC RNF145 153830 genome.wustl.edu 37 5 158596779 158596779 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 158596779 158596779 G C SNP RNF145 ENST00000274542 human ensembl 70_37 -1 known missense c.930 p.F310L 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF145 HGNC RNF220 55182 genome.wustl.edu 37 1 44877992 44877992 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 44877992 44877992 C T SNP RNF220 ENST00000355387 human ensembl 70_37 +1 known missense c.223 p.R75W 1.000 NULL superfamily_Peptidase_M20_dimer,pfscan_Znf_RING - no_errors RNF220 HGNC RNF5 6048 genome.wustl.edu 37 6 32148026 32148026 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 32148026 32148026 C T SNP RNF5 ENST00000375094 human ensembl 70_37 +1 known missense c.466 p.H156Y 0.999 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF5 HGNC ROS1 6098 genome.wustl.edu 37 6 117642486 117642486 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 117642486 117642486 C G SNP ROS1 ENST00000368508 human ensembl 70_37 -1 known missense c.5713 p.E1905Q 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC RPA1 6117 genome.wustl.edu 37 17 1782335 1782335 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 1782335 1782335 C G SNP RPA1 ENST00000254719 human ensembl 70_37 +1 known missense c.739 p.P247A 0.995 pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,tigrfam_Rep_factor_Rpa1 pfam_Rep_factor-A_C,pfam_Rep_factor-A_N,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,tigrfam_Rep_factor_Rpa1 - no_errors RPA1 HGNC RPL29 6159 genome.wustl.edu 37 3 52027809 52027809 + Nonsense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 52027809 52027809 G A SNP RPL29 ENST00000294189 human ensembl 70_37 -1 known nonsense c.436 p.Q146* 0.491 NULL pfam_Ribosomal_L29e - no_errors RPL29 HGNC RPSAP58 388524 genome.wustl.edu 37 19 24010138 24010138 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 24010138 24010138 C T SNP RPSAP58 ENST00000354585 human ensembl 70_37 +1 known silent c.175 p.L59 1.000 pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,tigrfam_Ribosomal_S2_euk/arc pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2,tigrfam_Ribosomal_S2_euk/arc - no_errors RPSAP58 HGNC RPSAP58 388524 genome.wustl.edu 37 19 24010572 24010572 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 24010572 24010572 C T SNP RPSAP58 ENST00000354585 human ensembl 70_37 +1 known silent c.609 p.F203 1.000 tigrfam_Ribosomal_S2_euk/arc pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2,tigrfam_Ribosomal_S2_euk/arc - no_errors RPSAP58 HGNC RRS1 23212 genome.wustl.edu 37 8 67342458 67342458 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 67342458 67342458 G A SNP RRS1 ENST00000320270 human ensembl 70_37 +1 known silent c.1092 p.R364 0.976 NULL pfam_Ribosom_reg - no_errors RRS1 HGNC RSF1 51773 genome.wustl.edu 37 11 77458164 77458164 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 77458164 77458164 C G SNP RSF1 ENST00000308488 human ensembl 70_37 -1 known missense c.289 p.E97Q 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors RSF1 HGNC RYR1 6261 genome.wustl.edu 37 19 38990368 38990368 + Nonsense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 38990368 38990368 C G SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known nonsense c.7121 p.S2374* 0.998 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,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_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC RYR2 6262 genome.wustl.edu 37 1 237919656 237919656 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 237919656 237919656 G A SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known silent c.11232 p.E3744 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,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,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC SAMD1 90378 genome.wustl.edu 37 19 14200004 14200004 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 14200004 14200004 C T SNP SAMD1 ENST00000533683 human ensembl 70_37 -1 novel silent c.807 p.E269 0.954 NULL pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD1 HGNC SCG2 7857 genome.wustl.edu 37 2 224463757 224463757 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 224463757 224463757 G C SNP SCG2 ENST00000305409 human ensembl 70_37 -1 known missense c.244 p.Q82E 1.000 pfam_Granin pfam_Granin - no_errors SCG2 HGNC SDC4 6385 genome.wustl.edu 37 20 43959178 43959178 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 20 43959178 43959178 C T SNP SDC4 ENST00000372733 human ensembl 70_37 -1 known silent c.273 p.E91 0.707 NULL pfam_Syndecan,smart_Neurexin-like - no_errors SDC4 HGNC SDK1 221935 genome.wustl.edu 37 7 4260916 4260916 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 4260916 4260916 C G SNP SDK1 ENST00000404826 human ensembl 70_37 +1 known missense c.5747 p.S1916C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK1 HGNC SELRC1 65260 genome.wustl.edu 37 1 53163902 53163902 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 53163902 53163902 C G SNP SELRC1 ENST00000371538 human ensembl 70_37 -1 known missense c.97 p.D33H 1.000 NULL pfam_Sel1-like,smart_Sel1-like - no_errors SELRC1 HGNC SELRC1 65260 genome.wustl.edu 37 1 53163968 53163968 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 53163968 53163968 C G SNP SELRC1 ENST00000371538 human ensembl 70_37 -1 known missense c.31 p.E11Q 1.000 NULL pfam_Sel1-like,smart_Sel1-like - no_errors SELRC1 HGNC SERPINA7 6906 genome.wustl.edu 37 X 105279279 105279279 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 X 105279279 105279279 C T SNP SERPINA7 ENST00000327674 human ensembl 70_37 -1 known silent c.720 p.Q240 0.470 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2 - no_errors SERPINA7 HGNC SERPINB11 89778 genome.wustl.edu 37 18 61377475 61377475 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 18 61377475 61377475 C G SNP SERPINB11 ENST00000538847 human ensembl 70_37 +1 known missense c.48 p.F16L 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB11 HGNC SERPINB11 89778 genome.wustl.edu 37 18 61377519 61377519 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 18 61377519 61377519 C G SNP SERPINB11 ENST00000538847 human ensembl 70_37 +1 known missense c.92 p.S31C 0.993 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB11 HGNC SERPINB3 6317 genome.wustl.edu 37 18 61324221 61324221 + Splice_Site SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 18 61324221 61324221 C G SNP SERPINB3 ENST00000283752 human ensembl 70_37 -1 known splice_site c.613-1 e6-1 0.035 - - - no_errors SERPINB3 HGNC SETD8 387893 genome.wustl.edu 37 12 123888168 123888168 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 123888168 123888168 G A SNP SETD8 ENST00000330479 human ensembl 70_37 +1 known missense c.646 p.E216K 1.000 smart_SET_dom,pirsf_Hist_H4-K20_MeTrfase pfam_SET_dom,smart_SET_dom,pirsf_Hist_H4-K20_MeTrfase,pfscan_SET_dom - no_errors SETD8 HGNC SETDB1 9869 genome.wustl.edu 37 1 150913850 150913850 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 150913850 150913850 C G SNP SETDB1 ENST00000271640 human ensembl 70_37 +1 known missense c.493 p.Q165E 1.000 NULL pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC SF3B3 23450 genome.wustl.edu 37 16 70590890 70590890 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 70590890 70590890 G A SNP SF3B3 ENST00000302516 human ensembl 70_37 +1 known silent c.1968 p.E656 1.000 superfamily_WD40_repeat_dom pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC SFMBT1 51460 genome.wustl.edu 37 3 52941312 52941312 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 52941312 52941312 C T SNP SFMBT1 ENST00000358080 human ensembl 70_37 -1 known missense c.2104 p.E702K 1.000 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT1 HGNC SFSWAP 6433 genome.wustl.edu 37 12 132284171 132284171 + RNA SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 132284171 132284171 G C SNP SFSWAP ENST00000539506 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SFSWAP HGNC SGK3 23678 genome.wustl.edu 37 8 67748196 67748196 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 67748196 67748196 G A SNP SGK3 ENST00000262211 human ensembl 70_37 +1 known missense c.628 p.E210K 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_Phox,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Phox,pfscan_Prot_kinase_cat_dom - no_errors SGK3 HGNC SGK3 23678 genome.wustl.edu 37 8 67748268 67748268 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 67748268 67748268 G A SNP SGK3 ENST00000262211 human ensembl 70_37 +1 known missense c.700 p.E234K 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_Phox,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Phox,pfscan_Prot_kinase_cat_dom - no_errors SGK3 HGNC SH3PXD2B 285590 genome.wustl.edu 37 5 171766800 171766800 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 171766800 171766800 G A SNP SH3PXD2B ENST00000311601 human ensembl 70_37 -1 known silent c.1309 p.L437 0.985 superfamily_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2B HGNC SHARPIN 81858 genome.wustl.edu 37 8 145153884 145153884 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 145153884 145153884 C T SNP SHARPIN ENST00000398712 human ensembl 70_37 -1 known missense c.1061 p.C354Y 1.000 pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors SHARPIN HGNC SHC2 25759 genome.wustl.edu 37 19 438722 438722 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 438722 438722 C T SNP SHC2 ENST00000264554 human ensembl 70_37 -1 known missense c.716 p.R239H 1.000 pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2,prints_PID_domain,prints_SH2 - no_errors SHC2 HGNC SI 6476 genome.wustl.edu 37 3 164750342 164750342 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 164750342 164750342 G C SNP SI ENST00000264382 human ensembl 70_37 -1 known missense c.2704 p.H902D 0.001 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors SI HGNC SIPA1L1 26037 genome.wustl.edu 37 14 72128168 72128168 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 14 72128168 72128168 G A SNP SIPA1L1 ENST00000555818 human ensembl 70_37 +1 known missense c.2239 p.D747N 1.000 pfam_Rap_GAP,pfscan_Rap_GAP pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L1 HGNC SLC25A40 55972 genome.wustl.edu 37 7 87487978 87487978 + Nonsense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 87487978 87487978 G C SNP SLC25A40 ENST00000341119 human ensembl 70_37 -1 known nonsense c.65 p.S22* 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A40 HGNC SLC25A42 284439 genome.wustl.edu 37 19 19216387 19216387 + Silent SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 19216387 19216387 C G SNP SLC25A42 ENST00000318596 human ensembl 70_37 +1 known silent c.231 p.L77 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A42 HGNC SLC30A10 55532 genome.wustl.edu 37 1 220100374 220100374 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 220100374 220100374 G A SNP SLC30A10 ENST00000366926 human ensembl 70_37 -1 known silent c.714 p.I238 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A10 HGNC SLC44A3 126969 genome.wustl.edu 37 1 95293118 95293118 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 95293118 95293118 C T SNP SLC44A3 ENST00000271227 human ensembl 70_37 +1 known missense c.334 p.R112C 0.103 NULL pfam_Choline_transptr-like - no_errors SLC44A3 HGNC SMARCB1 6598 genome.wustl.edu 37 22 24143243 24143243 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 22 24143243 24143243 G A SNP SMARCB1 ENST00000263121 human ensembl 70_37 +1 known missense c.475 p.D159N 1.000 pirsf_SWI_SNF_chromatin_remodel_cplx pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx - no_errors SMARCB1 HGNC SMARCB1 6598 genome.wustl.edu 37 22 24158954 24158954 + RNA SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 22 24158954 24158954 C T SNP SMARCB1 ENST00000477836 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SMARCB1 HGNC SMARCC2 6601 genome.wustl.edu 37 12 56559231 56559231 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 56559231 56559231 G C SNP SMARCC2 ENST00000267064 human ensembl 70_37 -1 known missense c.3010 p.P1004A 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC SMARCC2 6601 genome.wustl.edu 37 12 56559333 56559333 + Nonsense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 56559333 56559333 G A SNP SMARCC2 ENST00000267064 human ensembl 70_37 -1 known nonsense c.2908 p.Q970* 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC SMARCD3 6604 genome.wustl.edu 37 7 150936713 150936713 + Silent SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 150936713 150936713 G C SNP SMARCD3 ENST00000262188 human ensembl 70_37 -1 known silent c.1293 p.L431 0.983 NULL pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain - no_errors SMARCD3 HGNC SNRNP200 23020 genome.wustl.edu 37 2 96940773 96940773 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 96940773 96940773 C G SNP SNRNP200 ENST00000323853 human ensembl 70_37 -1 known missense c.6388 p.E2130Q 0.999 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC SNX29P2 440352 genome.wustl.edu 37 16 29376108 29376108 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 29376108 29376108 G C SNP SNX29P2 ENST00000507381 human ensembl 70_37 +1 known missense c.450 p.K150N 0.400 NULL pfam_Run,smart_Run,pfscan_Run - no_errors SNX29P2 HGNC SORBS2 8470 genome.wustl.edu 37 4 186578742 186578742 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 4 186578742 186578742 C T SNP SORBS2 ENST00000284776 human ensembl 70_37 -1 known missense c.103 p.D35N 0.993 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC SORBS3 10174 genome.wustl.edu 37 8 22419006 22419006 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 22419006 22419006 G C SNP SORBS3 ENST00000523402 human ensembl 70_37 +1 putative missense c.637 p.E213Q 0.000 NULL pfam_Sorb,smart_Sorb,pfscan_Sorb - no_errors SORBS3 HGNC SPAG17 200162 genome.wustl.edu 37 1 118523962 118523962 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 118523962 118523962 C G SNP SPAG17 ENST00000336338 human ensembl 70_37 -1 known missense c.5935 p.E1979Q 0.002 NULL NULL - no_errors SPAG17 HGNC SPEF2 79925 genome.wustl.edu 37 5 35740349 35740349 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 35740349 35740349 G A SNP SPEF2 ENST00000356031 human ensembl 70_37 +1 known missense c.3310 p.E1104K 1.000 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC SPEF2 79925 genome.wustl.edu 37 5 35792494 35792494 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 35792494 35792494 G A SNP SPEF2 ENST00000356031 human ensembl 70_37 +1 known silent c.4500 p.L1500 0.971 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC SPEF2 79925 genome.wustl.edu 37 5 35793312 35793312 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 35793312 35793312 C T SNP SPEF2 ENST00000356031 human ensembl 70_37 +1 known missense c.4606 p.R1536W 1.000 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC SRL 6345 genome.wustl.edu 37 16 4242627 4242627 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 4242627 4242627 C T SNP SRL ENST00000399609 human ensembl 70_37 -1 known missense c.949 p.D317N 1.000 NULL pfam_Dynamin_GTPase,pfam_GTP_binding_domain - no_errors SRL HGNC ST7-OT4 338069 genome.wustl.edu 37 7 116596563 116596563 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 116596563 116596563 G A SNP ST7-OT4 ENST00000397750 human ensembl 70_37 +1 putative silent c.156 p.Q52 0.000 NULL NULL - no_errors ST7-OT4 HGNC STARD10 10809 genome.wustl.edu 37 11 72470394 72470394 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 72470394 72470394 C G SNP STARD10 ENST00000334805 human ensembl 70_37 -1 known missense c.240 p.E80D 1.000 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd - no_errors STARD10 HGNC STXBP4 252983 genome.wustl.edu 37 17 53124509 53124509 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 53124509 53124509 G A SNP STXBP4 ENST00000376352 human ensembl 70_37 +1 known silent c.1005 p.V335 1.000 NULL pfam_WW_Rsp5_WWP,pfam_PDZ,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors STXBP4 HGNC SUSD4 55061 genome.wustl.edu 37 1 223395529 223395529 + RNA SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 223395529 223395529 C G SNP SUSD4 ENST00000478605 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SUSD4 HGNC SYNGAP1 8831 genome.wustl.edu 37 6 33391367 33391367 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 33391367 33391367 G C SNP SYNGAP1 ENST00000418600 human ensembl 70_37 +1 known missense c.181 p.E61Q 1.000 smart_Pleckstrin_homology pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC TADA2A 6871 genome.wustl.edu 37 17 35783680 35783680 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 35783680 35783680 G A SNP TADA2A ENST00000225396 human ensembl 70_37 +1 known missense c.97 p.E33K 1.000 pirsf_Transcriptional_adaptor_2 pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors TADA2A HGNC TAF1L 138474 genome.wustl.edu 37 9 32635100 32635100 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 32635100 32635100 G A SNP TAF1L ENST00000242310 human ensembl 70_37 -1 known missense c.478 p.P160S 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 TAF1L HGNC TARBP1 6894 genome.wustl.edu 37 1 234529150 234529150 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 234529150 234529150 C T SNP TARBP1 ENST00000040877 human ensembl 70_37 -1 known silent c.4518 p.Q1506 1.000 pfam_SpoU_MeTrfase pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC TATDN1 83940 genome.wustl.edu 37 8 125551267 125551267 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 125551267 125551267 G C SNP TATDN1 ENST00000276692 human ensembl 70_37 -1 known missense c.21 p.I7M 0.949 pfam_TatD_family,pirsf_TatD_family pfam_TatD_family,pirsf_TatD_family - no_errors TATDN1 HGNC TBC1D26 353149 genome.wustl.edu 37 17 15641633 15641633 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 15641633 15641633 C T SNP TBC1D26 ENST00000437605 human ensembl 70_37 +1 known missense c.319 p.R107W 0.008 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D26 HGNC TBKBP1 9755 genome.wustl.edu 37 17 45773697 45773697 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 45773697 45773697 G A SNP TBKBP1 ENST00000361722 human ensembl 70_37 +1 known silent c.219 p.E73 1.000 NULL NULL - no_errors TBKBP1 HGNC TBX15 6913 genome.wustl.edu 37 1 119530412 119530412 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 119530412 119530412 C T SNP TBX15 ENST00000369429 human ensembl 70_37 -1 known missense c.7 p.E3K 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX15 HGNC TCTEX1D1 200132 genome.wustl.edu 37 1 67241845 67241845 + RNA SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 67241845 67241845 G C SNP TCTEX1D1 ENST00000489510 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TCTEX1D1 HGNC TECPR1 25851 genome.wustl.edu 37 7 97852404 97852404 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 97852404 97852404 C G SNP TECPR1 ENST00000379795 human ensembl 70_37 -1 known missense c.2832 p.E944D 0.995 smart_Beta-propeller_rpt_TECPR pfam_Beta-propeller_rpt_TECPR,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin - no_errors TECPR1 HGNC TEK 7010 genome.wustl.edu 37 9 27203064 27203064 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 27203064 27203064 G A SNP TEK ENST00000380036 human ensembl 70_37 +1 known missense c.2156 p.G719E 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC TEP1 7011 genome.wustl.edu 37 14 20842653 20842653 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 14 20842653 20842653 C G SNP TEP1 ENST00000262715 human ensembl 70_37 -1 known missense c.6406 p.E2136Q 0.002 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC TFR2 7036 genome.wustl.edu 37 7 100218699 100218699 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 100218699 100218699 G A SNP TFR2 ENST00000223051 human ensembl 70_37 -1 known silent c.2187 p.F729 1.000 pfam_TFR-like_dimer_dom,superfamily_TFR-like_dimer_dom pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors TFR2 HGNC THRAP3 9967 genome.wustl.edu 37 1 36757080 36757080 + Silent SNP T T G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 36757080 36757080 T G SNP THRAP3 ENST00000354618 human ensembl 70_37 +1 known silent c.1851 p.A617 1.000 NULL NULL - no_errors THRAP3 HGNC TLR7 51284 genome.wustl.edu 37 X 12903915 12903915 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 X 12903915 12903915 C G SNP TLR7 ENST00000380659 human ensembl 70_37 +1 known missense c.288 p.F96L 1.000 NULL pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR7 HGNC TMEFF2 23671 genome.wustl.edu 37 2 192922421 192922421 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 192922421 192922421 C G SNP TMEFF2 ENST00000272771 human ensembl 70_37 -1 known missense c.520 p.D174H 1.000 NULL pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,pfscan_EG-like_dom - no_errors TMEFF2 HGNC TMEM176A 55365 genome.wustl.edu 37 7 150500755 150500755 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 150500755 150500755 C T SNP TMEM176A ENST00000004103 human ensembl 70_37 +1 known silent c.390 p.I130 0.000 pfam_CD20-like pfam_CD20-like - no_errors TMEM176A HGNC TMEM254 80195 genome.wustl.edu 37 10 81838408 81838408 + RNA SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 81838408 81838408 C G SNP TMEM254 ENST00000472622 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TMEM254 HGNC TMEM54 113452 genome.wustl.edu 37 1 33360939 33360939 + Silent SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 33360939 33360939 C G SNP TMEM54 ENST00000373463 human ensembl 70_37 -1 known silent c.561 p.L187 1.000 pfam_Beta-casein-like pfam_Beta-casein-like - no_errors TMEM54 HGNC TMPRSS3 64699 genome.wustl.edu 37 21 43816182 43816182 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 21 43816182 43816182 G A SNP TMPRSS3 ENST00000380399 human ensembl 70_37 -1 known missense c.70 p.R24W 0.000 NULL pfam_Peptidase_S1_S6,pfam_Srcr_rcpt,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_LDrepeatLR_classA_rpt,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS3 HGNC TNC 3371 genome.wustl.edu 37 9 117808902 117808902 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 117808902 117808902 G C SNP TNC ENST00000350763 human ensembl 70_37 -1 known missense c.4912 p.L1638V 1.000 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 TNC HGNC TPTE2 93492 genome.wustl.edu 37 13 20000617 20000617 + Missense_Mutation SNP A A G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 13 20000617 20000617 A G SNP TPTE2 ENST00000382977 human ensembl 70_37 -1 known missense c.1343 p.V448A 0.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC TRAPPC9 83696 genome.wustl.edu 37 8 141468469 141468469 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 141468469 141468469 G A SNP TRAPPC9 ENST00000389328 human ensembl 70_37 -1 known silent c.195 p.C65 0.007 NULL pfam_TRAPP_II_complex_Trs120 - no_errors TRAPPC9 HGNC TRAT1 50852 genome.wustl.edu 37 3 108566027 108566027 + RNA SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 108566027 108566027 C T SNP TRAT1 ENST00000493604 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TRAT1 HGNC TRDN 10345 genome.wustl.edu 37 6 123590999 123590999 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 123590999 123590999 G A SNP TRDN ENST00000398178 human ensembl 70_37 -1 known missense c.1733 p.P578L 0.995 NULL pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC TRHDE 29953 genome.wustl.edu 37 12 73046213 73046213 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 73046213 73046213 G A SNP TRHDE ENST00000261180 human ensembl 70_37 +1 known silent c.2652 p.E884 0.999 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC TRIM45 80263 genome.wustl.edu 37 1 117663434 117663434 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 117663434 117663434 G A SNP TRIM45 ENST00000256649 human ensembl 70_37 -1 known silent c.390 p.G130 1.000 smart_Znf_B-box,pfscan_Znf_B-box pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM45 HGNC TRIM67 440730 genome.wustl.edu 37 1 231333183 231333183 + Nonsense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 231333183 231333183 C T SNP TRIM67 ENST00000366652 human ensembl 70_37 +1 known nonsense c.1111 p.Q371* 1.000 smart_Bbox_C pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM67 HGNC TSC2 7249 genome.wustl.edu 37 16 2136841 2136841 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 2136841 2136841 C T SNP TSC2 ENST00000219476 human ensembl 70_37 +1 known missense c.4958 p.S1653F 1.000 pfam_Rap_GAP,pfscan_Rap_GAP pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin - no_errors TSC2 HGNC TSTD3 100130890 genome.wustl.edu 37 6 99979292 99979292 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 6 99979292 99979292 G A SNP TSTD3 ENST00000452647 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors TSTD3 HGNC TTC16 158248 genome.wustl.edu 37 9 130479949 130479949 + Silent SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 130479949 130479949 C G SNP TTC16 ENST00000373289 human ensembl 70_37 +1 known silent c.324 p.L108 0.996 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC16 HGNC TTC8 123016 genome.wustl.edu 37 14 89341385 89341385 + Nonsense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 14 89341385 89341385 C T SNP TTC8 ENST00000338104 human ensembl 70_37 +1 known nonsense c.1411 p.Q471* 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC8 HGNC TTF2 8458 genome.wustl.edu 37 1 117617603 117617603 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 117617603 117617603 C G SNP TTF2 ENST00000369466 human ensembl 70_37 +1 known missense c.397 p.Q133E 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC TTN 7273 genome.wustl.edu 37 2 179455128 179455128 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 2 179455128 179455128 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.53620 p.E17874K 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC UBC 7316 genome.wustl.edu 37 12 125398044 125398044 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 125398044 125398044 C G SNP UBC ENST00000339647 human ensembl 70_37 -1 known missense c.274 p.E92Q 1.000 pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors UBC HGNC UBE2J2 118424 genome.wustl.edu 37 1 1203290 1203290 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 1203290 1203290 G A SNP UBE2J2 ENST00000400930 human ensembl 70_37 -1 known missense c.83 p.P28L 0.999 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2J2 HGNC UGT2A3 79799 genome.wustl.edu 37 4 69816797 69816797 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 4 69816797 69816797 G A SNP UGT2A3 ENST00000251566 human ensembl 70_37 -1 known missense c.682 p.H228Y 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2A3 HGNC UGT2B11 10720 genome.wustl.edu 37 4 70080248 70080248 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 4 70080248 70080248 C T SNP UGT2B11 ENST00000446444 human ensembl 70_37 -1 known missense c.193 p.D65N 0.270 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B11 HGNC UGT3A1 133688 genome.wustl.edu 37 5 35988572 35988572 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 35988572 35988572 C T SNP UGT3A1 ENST00000274278 human ensembl 70_37 -1 known missense c.176 p.S59N 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A1 HGNC UMOD 7369 genome.wustl.edu 37 16 20348020 20348020 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 20348020 20348020 C T SNP UMOD ENST00000424589 human ensembl 70_37 -1 known silent c.1869 p.G623 0.037 NULL pfam_ZP_dom,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_ZP_dom,pfscan_EG-like_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors UMOD HGNC UPF1 5976 genome.wustl.edu 37 19 18966783 18966783 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 18966783 18966783 G A SNP UPF1 ENST00000599848 human ensembl 70_37 +1 known missense c.1627 p.E543K 1.000 pfam_Helicase/UvrB_dom pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom - no_errors UPF1 HGNC UPF2 26019 genome.wustl.edu 37 10 11971866 11971866 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 11971866 11971866 C T SNP UPF2 ENST00000356352 human ensembl 70_37 -1 known silent c.3807 p.G1269 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC UPF2 26019 genome.wustl.edu 37 10 11971934 11971934 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 11971934 11971934 C T SNP UPF2 ENST00000356352 human ensembl 70_37 -1 known missense c.3739 p.E1247K 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC UPF2 26019 genome.wustl.edu 37 10 11994167 11994167 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 11994167 11994167 C G SNP UPF2 ENST00000356352 human ensembl 70_37 -1 known missense c.2932 p.D978H 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC USP32 84669 genome.wustl.edu 37 17 58292072 58292072 + Missense_Mutation SNP C C A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 58292072 58292072 C A SNP USP32 ENST00000300896 human ensembl 70_37 -1 known missense c.1931 p.R644L 1.000 NULL pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_EF_hand_Ca-bd,smart_Pept_C19_DUSP,pfscan_EF_HAND_2,pfscan_Peptidase_C19,prints_Recoverin - no_errors USP32 HGNC USP6NL 9712 genome.wustl.edu 37 10 11523855 11523855 + Missense_Mutation SNP A A T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 11523855 11523855 A T SNP USP6NL ENST00000277575 human ensembl 70_37 -1 known missense c.1043 p.F348Y 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors USP6NL HGNC USPL1 10208 genome.wustl.edu 37 13 31205020 31205020 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 13 31205020 31205020 G A SNP USPL1 ENST00000255304 human ensembl 70_37 +1 known missense c.277 p.D93N 0.955 NULL pfscan_Peptidase_C19 - no_errors USPL1 HGNC UTP20 27340 genome.wustl.edu 37 12 101769493 101769493 + Missense_Mutation SNP T T G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 101769493 101769493 T G SNP UTP20 ENST00000261637 human ensembl 70_37 +1 known missense c.7355 p.I2452S 0.976 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC VGLL4 9686 genome.wustl.edu 37 3 11600204 11600204 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 11600204 11600204 G C SNP VGLL4 ENST00000430365 human ensembl 70_37 -1 known missense c.717 p.I239M 1.000 NULL smart_TDU_repeat - no_errors VGLL4 HGNC VPS4A 27183 genome.wustl.edu 37 16 69354623 69354623 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 69354623 69354623 C T SNP VPS4A ENST00000254950 human ensembl 70_37 +1 known missense c.802 p.L268F 1.000 pfam_ATPase_AAA_core,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase - no_errors VPS4A HGNC VTN 7448 genome.wustl.edu 37 17 26696313 26696313 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 26696313 26696313 G A SNP VTN ENST00000226218 human ensembl 70_37 -1 known silent c.666 p.F222 1.000 pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat pfam_Hemopexin/matrixin_repeat,pfam_Somatomedin_B_dom,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors VTN HGNC WASH6P 653440 genome.wustl.edu 37 X 155250676 155250676 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 X 155250676 155250676 C T SNP WASH6P ENST00000359512 human ensembl 70_37 +1 known silent c.51 p.I17 0.001 NULL pfam_WASH_WASD - no_errors WASH6P HGNC WBP11 51729 genome.wustl.edu 37 12 14940418 14940418 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 14940418 14940418 G A SNP WBP11 ENST00000261167 human ensembl 70_37 -1 known missense c.1507 p.R503C 1.000 NULL pfam_WW_dom-bd_prot_11 - no_errors WBP11 HGNC WDR45 11152 genome.wustl.edu 37 X 48932841 48932841 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 X 48932841 48932841 G C SNP WDR45 ENST00000322995 human ensembl 70_37 -1 known missense c.960 p.I320M 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR45 HGNC WDR48 57599 genome.wustl.edu 37 3 39116328 39116328 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 39116328 39116328 G A SNP WDR48 ENST00000302313 human ensembl 70_37 +1 known missense c.784 p.D262N 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF3337,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR48 HGNC WDR65 149465 genome.wustl.edu 37 1 43638464 43638464 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 43638464 43638464 C G SNP WDR65 ENST00000528956 human ensembl 70_37 +1 known missense c.40 p.L14V 0.982 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR65 HGNC WDR7 23335 genome.wustl.edu 37 18 54605880 54605880 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 18 54605880 54605880 G C SNP WDR7 ENST00000254442 human ensembl 70_37 +1 known missense c.3948 p.K1316N 1.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC WFIKKN1 117166 genome.wustl.edu 37 16 683820 683820 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 683820 683820 C T SNP WFIKKN1 ENST00000319070 human ensembl 70_37 +1 known silent c.1410 p.L470 1.000 pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,pfscan_Netrin_domain pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m - no_errors WFIKKN1 HGNC WIZ 58525 genome.wustl.edu 37 19 15547763 15547763 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 15547763 15547763 G C SNP WIZ ENST00000389282 human ensembl 70_37 -1 known missense c.2450 p.S817C 0.946 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC XPO7 23039 genome.wustl.edu 37 8 21845357 21845357 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 21845357 21845357 C T SNP XPO7 ENST00000434536 human ensembl 70_37 +1 known silent c.1803 p.F601 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO7 HGNC XRN2 22803 genome.wustl.edu 37 20 21314412 21314412 + Nonsense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 20 21314412 21314412 G A SNP XRN2 ENST00000377191 human ensembl 70_37 +1 known nonsense c.1004 p.W335* 1.000 pirsf_5_3_exoribonuclease_2 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 - no_errors XRN2 HGNC YEATS2 55689 genome.wustl.edu 37 3 183479900 183479900 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 183479900 183479900 G A SNP YEATS2 ENST00000305135 human ensembl 70_37 +1 known missense c.1780 p.E594K 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC YKT6 10652 genome.wustl.edu 37 7 44246081 44246081 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 44246081 44246081 G A SNP YKT6 ENST00000223369 human ensembl 70_37 +1 known silent c.285 p.E95 0.996 superfamily_Longin-like_dom,pfscan_Longin_dom pfam_Synaptobrevin,superfamily_Longin-like_dom,pfscan_Longin_dom,pfscan_Synaptobrevin - no_errors YKT6 HGNC YTHDC2 64848 genome.wustl.edu 37 5 112917198 112917198 + Nonsense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 112917198 112917198 C T SNP YTHDC2 ENST00000161863 human ensembl 70_37 +1 known nonsense c.3439 p.Q1147* 1.000 NULL 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 ZBTB5 9925 genome.wustl.edu 37 9 37441722 37441722 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 37441722 37441722 G A SNP ZBTB5 ENST00000307750 human ensembl 70_37 -1 known missense c.827 p.S276F 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB5 HGNC ZC3H12C 85463 genome.wustl.edu 37 11 110030151 110030151 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 110030151 110030151 G C SNP ZC3H12C ENST00000278590 human ensembl 70_37 +1 known missense c.1084 p.E362Q 1.000 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12 - no_errors ZC3H12C HGNC ZC4H2 55906 genome.wustl.edu 37 X 64136882 64136882 + RNA SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 X 64136882 64136882 G A SNP ZC4H2 ENST00000488608 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZC4H2 HGNC ZDHHC23 254887 genome.wustl.edu 37 3 113672893 113672893 + Nonsense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 3 113672893 113672893 C T SNP ZDHHC23 ENST00000478793 human ensembl 70_37 +1 known nonsense c.508 p.Q170* 0.980 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC23 HGNC ZDHHC5 25921 genome.wustl.edu 37 11 57466416 57466416 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 57466416 57466416 C T SNP ZDHHC5 ENST00000287169 human ensembl 70_37 +1 known missense c.1508 p.S503L 0.999 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC5 HGNC ZFC3H1 196441 genome.wustl.edu 37 12 72021566 72021566 + Silent SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 12 72021566 72021566 G C SNP ZFC3H1 ENST00000378743 human ensembl 70_37 -1 known silent c.4095 p.L1365 1.000 pfscan_TPR-contain_dom pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ZFYVE26 23503 genome.wustl.edu 37 14 68264470 68264470 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 14 68264470 68264470 C G SNP ZFYVE26 ENST00000347230 human ensembl 70_37 -1 known missense c.2251 p.E751Q 0.964 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ZHX1 11244 genome.wustl.edu 37 8 124267821 124267821 + Silent SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 124267821 124267821 C G SNP ZHX1 ENST00000297857 human ensembl 70_37 -1 known silent c.366 p.L122 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZHX1 HGNC ZHX1 11244 genome.wustl.edu 37 8 124268338 124268338 + RNA SNP C C A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 8 124268338 124268338 C A SNP ZHX1 ENST00000522595 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZHX1 HGNC ZNF169 169841 genome.wustl.edu 37 9 97062636 97062636 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 9 97062636 97062636 G C SNP ZNF169 ENST00000395395 human ensembl 70_37 +1 known missense c.796 p.E266Q 0.318 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 ZNF169 HGNC ZNF202 7753 genome.wustl.edu 37 11 123601372 123601372 + Silent SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 11 123601372 123601372 C T SNP ZNF202 ENST00000336139 human ensembl 70_37 -1 known silent c.225 p.L75 0.999 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_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF202 HGNC ZNF544 27300 genome.wustl.edu 37 19 58772318 58772318 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 58772318 58772318 G A SNP ZNF544 ENST00000269829 human ensembl 70_37 +1 known missense c.346 p.E116K 0.001 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 ZNF544 HGNC ZNF579 163033 genome.wustl.edu 37 19 56089506 56089506 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 56089506 56089506 G A SNP ZNF579 ENST00000325421 human ensembl 70_37 -1 known silent c.1500 p.L500 0.816 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF579 HGNC ZNF594 84622 genome.wustl.edu 37 17 5086046 5086046 + Silent SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 17 5086046 5086046 G C SNP ZNF594 ENST00000399604 human ensembl 70_37 -1 known silent c.1506 p.L502 0.010 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF594 HGNC ZNF668 79759 genome.wustl.edu 37 16 31072775 31072775 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 31072775 31072775 G A SNP ZNF668 ENST00000426488 human ensembl 70_37 -1 known missense c.1543 p.R515W 0.163 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF668 HGNC ZNF727 442319 genome.wustl.edu 37 7 63538354 63538354 + Silent SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 63538354 63538354 G A SNP ZNF727 ENST00000550760 human ensembl 70_37 +1 known silent c.927 p.E309 1.000 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 ZNF727 HGNC ZNF786 136051 genome.wustl.edu 37 7 148768366 148768366 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 7 148768366 148768366 G A SNP ZNF786 ENST00000491431 human ensembl 70_37 -1 known missense c.1498 p.R500W 0.577 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 ZNF786 HGNC ZNF8 7554 genome.wustl.edu 37 19 58797541 58797541 + Nonsense_Mutation SNP G G T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 58797541 58797541 G T SNP ZNF8 ENST00000196548 human ensembl 70_37 +1 known nonsense c.259 p.E87* 0.110 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF8 HGNC ZNF91 7644 genome.wustl.edu 37 19 23545029 23545029 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 23545029 23545029 G A SNP ZNF91 ENST00000300619 human ensembl 70_37 -1 known missense c.752 p.S251L 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF91 HGNC ZNF99 7652 genome.wustl.edu 37 19 22939111 22939111 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 22939111 22939111 G A SNP ZNF99 ENST00000397104 human ensembl 70_37 -1 known missense c.3010 p.H1004Y 0.993 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 ZNF99 HGNC ZP2 7783 genome.wustl.edu 37 16 21218209 21218209 + Missense_Mutation SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 16 21218209 21218209 C T SNP ZP2 ENST00000219593 human ensembl 70_37 -1 known missense c.433 p.E145K 0.001 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP2 HGNC ZRANB2 9406 genome.wustl.edu 37 1 71544392 71544392 + Splice_Site SNP C C T TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 1 71544392 71544392 C T SNP ZRANB2 ENST00000370920 human ensembl 70_37 -1 known splice_site c.57-1 e2-1 1.000 - - - no_errors ZRANB2 HGNC ZSWIM4 65249 genome.wustl.edu 37 19 13928068 13928068 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 19 13928068 13928068 G A SNP ZSWIM4 ENST00000254323 human ensembl 70_37 +1 known missense c.1219 p.E407K 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM4 HGNC ZSWIM6 57688 genome.wustl.edu 37 5 60839696 60839696 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 5 60839696 60839696 C G SNP ZSWIM6 ENST00000252744 human ensembl 70_37 +1 known missense c.3200 p.P1067R 1.000 NULL pfscan_Znf_SWIM,prints_Antifreeze_1 - no_errors ZSWIM6 HGNC ZWINT 11130 genome.wustl.edu 37 10 58118684 58118684 + Nonsense_Mutation SNP C C A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8788027e-3464-4a19-896b-4f5c3dccdee5 fe76b2c2-feab-4c67-863e-28f103b47dd8 10 58118684 58118684 C A SNP ZWINT ENST00000373944 human ensembl 70_37 -1 known nonsense c.505 p.E169* 0.001 NULL NULL - no_errors ZWINT HGNC