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 AADACL2 344752 genome.wustl.edu 37 3 151475084 151475084 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 151475084 151475084 G A SNP AADACL2 ENST00000356517 human ensembl 70_37 +1 known missense c.908 p.G303E 0.995 pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pfam_CarbesteraseB,pfam_Steryl_acetyl_hydrolase,pirsf_Arylacetamide_deacetylase - no_errors AADACL2 HGNC AATK 9625 genome.wustl.edu 37 17 79097112 79097112 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 79097112 79097112 C G SNP AATK ENST00000326724 human ensembl 70_37 -1 known missense c.994 p.E332Q 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AATK HGNC ABCA5 23461 genome.wustl.edu 37 17 67302965 67302965 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 67302965 67302965 G A SNP ABCA5 ENST00000392677 human ensembl 70_37 -1 known missense c.689 p.S230L 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ABCC8 6833 genome.wustl.edu 37 11 17432122 17432122 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 17432122 17432122 C T SNP ABCC8 ENST00000302539 human ensembl 70_37 -1 known missense c.2638 p.D880N 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC8 HGNC ABCG2 9429 genome.wustl.edu 37 4 89052332 89052332 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 89052332 89052332 C G SNP ABCG2 ENST00000237612 human ensembl 70_37 -1 known missense c.412 p.E138Q 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG2 HGNC ABHD2 11057 genome.wustl.edu 37 15 89694980 89694980 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 89694980 89694980 G A SNP ABHD2 ENST00000352732 human ensembl 70_37 +1 known silent c.267 p.V89 0.998 pirsf_AB-Hydro_YheT pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT - no_errors ABHD2 HGNC ACADS 35 genome.wustl.edu 37 12 121175948 121175948 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 121175948 121175948 C G SNP ACADS ENST00000411593 human ensembl 70_37 +1 novel missense c.569 p.P190R 0.003 superfamily_AcylCoA_DH/oxidase pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase - no_errors ACADS HGNC ACIN1 22985 genome.wustl.edu 37 14 23533373 23533373 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 23533373 23533373 G A SNP ACIN1 ENST00000262710 human ensembl 70_37 -1 known missense c.2710 p.R904C 1.000 NULL pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors ACIN1 HGNC ACOX2 8309 genome.wustl.edu 37 3 58508292 58508292 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 58508292 58508292 C G SNP ACOX2 ENST00000302819 human ensembl 70_37 -1 known silent c.1563 p.L521 0.952 pfam_Acyl-CoA_oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase - no_errors ACOX2 HGNC ACSL6 23305 genome.wustl.edu 37 5 131326618 131326618 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 131326618 131326618 G C SNP ACSL6 ENST00000296869 human ensembl 70_37 -1 known missense c.313 p.Q105E 0.998 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSL6 HGNC ADAMTS16 170690 genome.wustl.edu 37 5 5239271 5239271 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 5239271 5239271 G A SNP ADAMTS16 ENST00000274181 human ensembl 70_37 +1 known missense c.2162 p.G721E 1.000 prints_Peptidase_M12B_ADAM-TS pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ADAMTSL1 92949 genome.wustl.edu 37 9 18639298 18639298 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 18639298 18639298 C G SNP ADAMTSL1 ENST00000327883 human ensembl 70_37 +1 known silent c.723 p.L241 1.000 pfam_ADAM_spacer1 pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL1 HGNC ADAMTSL3 57188 genome.wustl.edu 37 15 84581944 84581944 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 84581944 84581944 G A SNP ADAMTSL3 ENST00000286744 human ensembl 70_37 +1 known missense c.1801 p.E601K 0.552 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ADAMTSL3 57188 genome.wustl.edu 37 15 84651086 84651086 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 84651086 84651086 G C SNP ADAMTSL3 ENST00000286744 human ensembl 70_37 +1 known missense c.2706 p.Q902H 0.998 pfscan_Ig-like pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ADAMTSL4 54507 genome.wustl.edu 37 1 150524368 150524368 + RNA DEL A A - TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 150524368 150524368 A - DEL ADAMTSL4 ENST00000483335 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ADAMTSL4 HGNC ADARB2-AS1 642394 genome.wustl.edu 37 10 1568961 1568961 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 1568961 1568961 G A SNP ADARB2-AS1 ENST00000381301 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors ADARB2-AS1 HGNC ADCY8 114 genome.wustl.edu 37 8 132002735 132002735 + Silent SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 132002735 132002735 G T SNP ADCY8 ENST00000286355 human ensembl 70_37 -1 known silent c.1014 p.I338 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ADCY8 114 genome.wustl.edu 37 8 132002738 132002738 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 132002738 132002738 G A SNP ADCY8 ENST00000286355 human ensembl 70_37 -1 known silent c.1011 p.F337 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ADD1 118 genome.wustl.edu 37 4 2877727 2877727 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 2877727 2877727 G C SNP ADD1 ENST00000264758 human ensembl 70_37 +1 known missense c.85 p.D29H 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD1 HGNC ADD1 118 genome.wustl.edu 37 4 2886385 2886385 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 2886385 2886385 C G SNP ADD1 ENST00000264758 human ensembl 70_37 +1 known missense c.502 p.H168D 1.000 pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD1 HGNC ADNP 23394 genome.wustl.edu 37 20 49509639 49509639 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 49509639 49509639 C A SNP ADNP ENST00000349014 human ensembl 70_37 -1 known nonsense c.1612 p.E538* 1.000 pfscan_Znf_C2H2 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ADNP HGNC AFF2 2334 genome.wustl.edu 37 X 148037884 148037884 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 148037884 148037884 C A SNP AFF2 ENST00000370460 human ensembl 70_37 +1 known missense c.2309 p.S770Y 0.006 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC AGAP6 414189 genome.wustl.edu 37 10 51769332 51769332 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 51769332 51769332 G T SNP AGAP6 ENST00000374056 human ensembl 70_37 +1 known nonsense c.1447 p.E483* 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP6 HGNC AGAP7 653268 genome.wustl.edu 37 10 51483213 51483213 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 51483213 51483213 C G SNP AGAP7 ENST00000374095 human ensembl 70_37 -1 known missense c.253 p.E85Q 0.991 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP7 HGNC AGBL5 60509 genome.wustl.edu 37 2 27293078 27293078 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 27293078 27293078 G C SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known missense c.2608 p.E870Q 0.994 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC AGL 178 genome.wustl.edu 37 1 100347192 100347192 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 100347192 100347192 C T SNP AGL ENST00000294724 human ensembl 70_37 +1 known silent c.2253 p.F751 1.000 tigrfam_Glycogen_debranch_met pfam_GDE_C,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met - no_errors AGL HGNC AHCTF1 25909 genome.wustl.edu 37 1 247065857 247065857 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 247065857 247065857 G A SNP AHCTF1 ENST00000326225 human ensembl 70_37 -1 known missense c.1114 p.H372Y 1.000 NULL superfamily_Quinonprotein_ADH-like - no_errors AHCTF1 HGNC AHNAK 79026 genome.wustl.edu 37 11 62296617 62296617 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 62296617 62296617 C G SNP AHNAK ENST00000378024 human ensembl 70_37 -1 known missense c.5272 p.E1758Q 0.981 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC AHNAK 79026 genome.wustl.edu 37 11 62300022 62300022 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 62300022 62300022 C G SNP AHNAK ENST00000378024 human ensembl 70_37 -1 known missense c.1867 p.E623Q 0.110 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC AHRR 57491 genome.wustl.edu 37 5 434222 434222 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 434222 434222 C T SNP AHRR ENST00000316418 human ensembl 70_37 +1 known missense c.1433 p.S478F 0.002 NULL pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pfscan_PAS,pfscan_HLH_dom - no_errors AHRR HGNC AIM1L 55057 genome.wustl.edu 37 1 26663710 26663710 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 26663710 26663710 G A SNP AIM1L ENST00000522923 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors AIM1L HGNC AK7 122481 genome.wustl.edu 37 14 96864457 96864457 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 96864457 96864457 G A SNP AK7 ENST00000267584 human ensembl 70_37 +1 known missense c.151 p.E51K 0.963 NULL pfam_Dpy-30_motif,pfam_Adenylate_kin - no_errors AK7 HGNC AKAP11 11215 genome.wustl.edu 37 13 42877015 42877015 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 42877015 42877015 C A SNP AKAP11 ENST00000025301 human ensembl 70_37 +1 known nonsense c.4133 p.S1378* 1.000 NULL NULL - no_errors AKAP11 HGNC AKAP12 9590 genome.wustl.edu 37 6 151673169 151673169 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 151673169 151673169 C T SNP AKAP12 ENST00000253332 human ensembl 70_37 +1 known missense c.3643 p.P1215S 0.004 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC AKAP4 8852 genome.wustl.edu 37 X 49957942 49957942 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 49957942 49957942 C T SNP AKAP4 ENST00000358526 human ensembl 70_37 -1 known missense c.1422 p.M474I 1.000 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC AKAP4 8852 genome.wustl.edu 37 X 49958260 49958260 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 49958260 49958260 C G SNP AKAP4 ENST00000358526 human ensembl 70_37 -1 known missense c.1104 p.K368N 0.987 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC AKAP6 9472 genome.wustl.edu 37 14 33291446 33291446 + Nonsense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 33291446 33291446 C G SNP AKAP6 ENST00000280979 human ensembl 70_37 +1 known nonsense c.4427 p.S1476* 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC AKAP6 9472 genome.wustl.edu 37 14 33292215 33292215 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 33292215 33292215 C G SNP AKAP6 ENST00000280979 human ensembl 70_37 +1 known silent c.5196 p.V1732 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ALB 213 genome.wustl.edu 37 4 74282030 74282030 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 74282030 74282030 G A SNP ALB ENST00000295897 human ensembl 70_37 +1 known missense c.1249 p.E417K 1.000 pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr,prints_Serum_albumin - no_errors ALB HGNC ALDH5A1 7915 genome.wustl.edu 37 6 24515501 24515501 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 24515501 24515501 C T SNP ALDH5A1 ENST00000348925 human ensembl 70_37 +1 known missense c.872 p.S291F 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH - no_errors ALDH5A1 HGNC ALKBH8 91801 genome.wustl.edu 37 11 107420538 107420538 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 107420538 107420538 G C SNP ALKBH8 ENST00000417449 human ensembl 70_37 -1 known missense c.721 p.H241D 1.000 pfam_Oxoglu/Fe-dep_dioxygenase pfam_Methyltransf_11,pfam_AlkB_hom8_N,pfam_Oxoglu/Fe-dep_dioxygenase,pfam_Methyltransferase-rel - no_errors ALKBH8 HGNC ALMS1 7840 genome.wustl.edu 37 2 73716937 73716937 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 73716937 73716937 G A SNP ALMS1 ENST00000264448 human ensembl 70_37 +1 known silent c.7848 p.Q2616 0.756 NULL NULL - no_errors ALMS1 HGNC ALMS1 7840 genome.wustl.edu 37 2 73828516 73828516 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 73828516 73828516 G C SNP ALMS1 ENST00000264448 human ensembl 70_37 +1 known missense c.12064 p.E4022Q 0.001 NULL NULL - no_errors ALMS1 HGNC ALOX12 239 genome.wustl.edu 37 17 6902050 6902050 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 6902050 6902050 G A SNP ALOX12 ENST00000251535 human ensembl 70_37 +1 known missense c.436 p.E146K 0.997 superfamily_LipOase_C,prints_LipOase_mml pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX12 HGNC ALS2 57679 genome.wustl.edu 37 2 202630302 202630302 + RNA SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 202630302 202630302 C A SNP ALS2 ENST00000462747 human ensembl 70_37 -1 known rna NULL NULL 0.049 - - - no_errors ALS2 HGNC AMPD3 272 genome.wustl.edu 37 11 10483213 10483213 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 10483213 10483213 C T SNP AMPD3 ENST00000396553 human ensembl 70_37 +1 known silent c.147 p.I49 0.843 pirsf_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD3 HGNC AMPH 273 genome.wustl.edu 37 7 38431444 38431444 + Nonsense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 38431444 38431444 G A SNP AMPH ENST00000356264 human ensembl 70_37 -1 known nonsense c.1783 p.Q595* 0.756 NULL pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain - no_errors AMPH HGNC AMPH 273 genome.wustl.edu 37 7 38500909 38500909 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 38500909 38500909 C G SNP AMPH ENST00000356264 human ensembl 70_37 -1 known missense c.991 p.E331Q 1.000 NULL pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain - no_errors AMPH HGNC AMZ2 51321 genome.wustl.edu 37 17 66247275 66247275 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 66247275 66247275 G C SNP AMZ2 ENST00000359904 human ensembl 70_37 +1 known missense c.542 p.R181T 1.000 NULL pfam_Pept_M54_archaemetzincn - no_errors AMZ2 HGNC ANAPC1 64682 genome.wustl.edu 37 2 112638298 112638298 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 112638298 112638298 C T SNP ANAPC1 ENST00000341068 human ensembl 70_37 -1 known silent c.105 p.L35 1.000 NULL NULL - no_errors ANAPC1 HGNC ANK2 287 genome.wustl.edu 37 4 114278256 114278256 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 114278256 114278256 G C SNP ANK2 ENST00000357077 human ensembl 70_37 +1 known missense c.8482 p.D2828H 0.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ANK3 288 genome.wustl.edu 37 10 61815703 61815703 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 61815703 61815703 C T SNP ANK3 ENST00000280772 human ensembl 70_37 -1 known missense c.12778 p.E4260K 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ANK3 288 genome.wustl.edu 37 10 61815726 61815726 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 61815726 61815726 C T SNP ANK3 ENST00000280772 human ensembl 70_37 -1 known missense c.12755 p.G4252E 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ANK3 288 genome.wustl.edu 37 10 61898737 61898737 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 61898737 61898737 C T SNP ANK3 ENST00000280772 human ensembl 70_37 -1 known missense c.2723 p.G908E 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ANKFY1 51479 genome.wustl.edu 37 17 4120286 4120286 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 4120286 4120286 G A SNP ANKFY1 ENST00000570535 human ensembl 70_37 -1 known silent c.576 p.L192 0.886 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt - no_errors ANKFY1 HGNC ANKRD18CP 100287922 genome.wustl.edu 37 9 99942787 99942787 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 99942787 99942787 C G SNP ANKRD18CP ENST00000354752 human ensembl 70_37 -1 known rna NULL NULL 0.990 - - - no_errors ANKRD18CP HGNC ANKRD24 170961 genome.wustl.edu 37 19 4217321 4217321 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 4217321 4217321 C T SNP ANKRD24 ENST00000318934 human ensembl 70_37 +1 known nonsense c.2164 p.Q722* 0.973 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD24 HGNC ANKRD30B 374860 genome.wustl.edu 37 18 14799120 14799120 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 14799120 14799120 C T SNP ANKRD30B ENST00000358984 human ensembl 70_37 +1 known missense c.2050 p.L684F 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ANKRD36 375248 genome.wustl.edu 37 2 97875577 97875577 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 97875577 97875577 G C SNP ANKRD36 ENST00000420699 human ensembl 70_37 +1 known missense c.3335 p.R1112T 0.002 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ANKRD44 91526 genome.wustl.edu 37 2 197873681 197873681 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 197873681 197873681 C T SNP ANKRD44 ENST00000328737 human ensembl 70_37 -1 known missense c.1924 p.D642N 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,prints_Ankyrin_rpt - no_errors ANKRD44 HGNC ANO10 55129 genome.wustl.edu 37 3 43640123 43640123 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 43640123 43640123 G C SNP ANO10 ENST00000292246 human ensembl 70_37 -1 known missense c.373 p.Q125E 1.000 NULL pfam_Anoctamin - no_errors ANO10 HGNC ANO7 50636 genome.wustl.edu 37 2 242149031 242149031 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 242149031 242149031 C T SNP ANO7 ENST00000274979 human ensembl 70_37 +1 known missense c.1502 p.S501F 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO7 HGNC AP2M1 1173 genome.wustl.edu 37 3 183899781 183899781 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 183899781 183899781 C G SNP AP2M1 ENST00000292807 human ensembl 70_37 +1 known silent c.909 p.V303 0.999 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP2M1 HGNC APOBR 55911 genome.wustl.edu 37 16 28508263 28508263 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 28508263 28508263 G C SNP APOBR ENST00000564831 human ensembl 70_37 +1 known missense c.1901 p.R634T 0.224 NULL NULL - no_errors APOBR HGNC APOL3 80833 genome.wustl.edu 37 22 36556828 36556828 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 36556828 36556828 G C SNP APOL3 ENST00000349314 human ensembl 70_37 -1 known missense c.112 p.Q38E 0.000 NULL pfam_ApoL - no_errors APOL3 HGNC AR 367 genome.wustl.edu 37 X 66863102 66863102 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 66863102 66863102 G C SNP AR ENST00000374690 human ensembl 70_37 +1 known missense c.1621 p.E541Q 1.000 NULL pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ARFGEF2 10564 genome.wustl.edu 37 20 47569353 47569353 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 47569353 47569353 C T SNP ARFGEF2 ENST00000371917 human ensembl 70_37 +1 known nonsense c.535 p.Q179* 1.000 superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF2 HGNC ARFIP2 23647 genome.wustl.edu 37 11 6500102 6500102 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 6500102 6500102 C G SNP ARFIP2 ENST00000254584 human ensembl 70_37 -1 known missense c.403 p.E135Q 1.000 pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom - no_errors ARFIP2 HGNC ARHGAP11B 89839 genome.wustl.edu 37 15 30936861 30936861 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 30936861 30936861 C T SNP ARHGAP11B ENST00000564902 human ensembl 70_37 +1 putative rna NULL NULL 0.172 - - - no_errors ARHGAP11B HGNC ARHGAP27 201176 genome.wustl.edu 37 17 43474289 43474289 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 43474289 43474289 C T SNP ARHGAP27 ENST00000428638 human ensembl 70_37 -1 known silent c.1944 p.P648 0.000 NULL pfam_RhoGAP_dom,pfam_WW_Rsp5_WWP,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom - no_errors ARHGAP27 HGNC ARHGAP36 158763 genome.wustl.edu 37 X 130219941 130219941 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 130219941 130219941 C T SNP ARHGAP36 ENST00000276211 human ensembl 70_37 +1 known missense c.1159 p.L387F 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP36 HGNC ARHGAP4 393 genome.wustl.edu 37 X 153186187 153186187 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 153186187 153186187 C A SNP ARHGAP4 ENST00000350060 human ensembl 70_37 -1 known nonsense c.574 p.E192* 1.000 NULL pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP4 HGNC ARHGAP6 395 genome.wustl.edu 37 X 11156998 11156998 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 11156998 11156998 G A SNP ARHGAP6 ENST00000337414 human ensembl 70_37 -1 known silent c.2910 p.P970 0.072 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ARHGEF7 8874 genome.wustl.edu 37 13 111935688 111935688 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 111935688 111935688 C T SNP ARHGEF7 ENST00000375741 human ensembl 70_37 +1 known missense c.1991 p.S664L 1.000 NULL pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain - no_errors ARHGEF7 HGNC ARID2 196528 genome.wustl.edu 37 12 46300166 46300166 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 46300166 46300166 C T SNP ARID2 ENST00000479608 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ARID2 HGNC ARID4B 51742 genome.wustl.edu 37 1 235338556 235338556 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 235338556 235338556 C G SNP ARID4B ENST00000264183 human ensembl 70_37 -1 known missense c.3607 p.D1203H 0.985 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ARL11 115761 genome.wustl.edu 37 13 50204667 50204667 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 50204667 50204667 C T SNP ARL11 ENST00000282026 human ensembl 70_37 +1 known silent c.84 p.L28 0.967 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom - no_errors ARL11 HGNC ARMC9 80210 genome.wustl.edu 37 2 232234713 232234713 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 232234713 232234713 G C SNP ARMC9 ENST00000483477 human ensembl 70_37 +1 known rna NULL NULL 0.881 - - - no_errors ARMC9 HGNC ARMCX2 9823 genome.wustl.edu 37 X 100910949 100910949 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 100910949 100910949 C T SNP ARMCX2 ENST00000328766 human ensembl 70_37 -1 known silent c.1626 p.L542 0.995 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMCX2 HGNC ARMCX3 51566 genome.wustl.edu 37 X 100878842 100878842 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 100878842 100878842 G A SNP ARMCX3 ENST00000467808 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ARMCX3 HGNC ARMCX4 100131755 genome.wustl.edu 37 X 100749126 100749126 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 100749126 100749126 G A SNP ARMCX4 ENST00000423738 human ensembl 70_37 +1 putative silent c.5550 p.G1850 0.004 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX4 HGNC ARPP21 10777 genome.wustl.edu 37 3 35750512 35750512 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 35750512 35750512 G C SNP ARPP21 ENST00000187397 human ensembl 70_37 +1 known missense c.847 p.E283Q 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ASAH1 427 genome.wustl.edu 37 8 17933080 17933080 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 17933080 17933080 C T SNP ASAH1 ENST00000381733 human ensembl 70_37 -1 known missense c.143 p.R48K 1.000 pirsf_Acid_ceramidase-like pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like - no_errors ASAH1 HGNC ASAH2C 653365 genome.wustl.edu 37 10 48007171 48007171 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 48007171 48007171 C T SNP ASAH2C ENST00000426610 human ensembl 70_37 -1 known missense c.1543 p.E515K 1.000 pfam_Ceramidase_alk pfam_Ceramidase_alk - no_errors ASAH2C HGNC ASPM 259266 genome.wustl.edu 37 1 197098341 197098341 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 197098341 197098341 G A SNP ASPM ENST00000367409 human ensembl 70_37 -1 known silent c.2736 p.L912 1.000 superfamily_CH-domain pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ASXL2 55252 genome.wustl.edu 37 2 25972626 25972627 + Frame_Shift_Del DEL GA GA - TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 25972626 25972627 GA - DEL ASXL2 ENST00000435504 human ensembl 70_37 -1 known frame_shift_del c.1799_1798 p.S600fs 0.215:0.247 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ATG13 9776 genome.wustl.edu 37 11 46691034 46691034 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 46691034 46691034 G A SNP ATG13 ENST00000312040 human ensembl 70_37 +1 known silent c.1428 p.L476 0.983 NULL pfam_Autophagy-rel_p13 - no_errors ATG13 HGNC ATG2A 23130 genome.wustl.edu 37 11 64669734 64669734 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 64669734 64669734 G A SNP ATG2A ENST00000421419 human ensembl 70_37 -1 known missense c.3908 p.S1303L 0.960 NULL pfam_Autophagy-rel_C - no_errors ATG2A HGNC ATOH8 84913 genome.wustl.edu 37 2 86014109 86014109 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 86014109 86014109 C T SNP ATOH8 ENST00000469442 human ensembl 70_37 +1 known rna NULL NULL 0.546 - - - no_errors ATOH8 HGNC ATP1A2 477 genome.wustl.edu 37 1 160093844 160093844 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 160093844 160093844 C A SNP ATP1A2 ENST00000361216 human ensembl 70_37 +1 known missense c.493 p.Q165K 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr 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 ATP1A2 HGNC ATP1A2 477 genome.wustl.edu 37 1 160106421 160106421 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 160106421 160106421 C G SNP ATP1A2 ENST00000361216 human ensembl 70_37 +1 known missense c.2625 p.F875L 1.000 pfam_ATPase_P-typ_cation-transptr_C,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 ATP1A2 HGNC ATP1A3 478 genome.wustl.edu 37 19 42489498 42489498 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 42489498 42489498 C T SNP ATP1A3 ENST00000302102 human ensembl 70_37 -1 known silent c.684 p.E228 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr 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 ATP1A3 HGNC ATP2B3 492 genome.wustl.edu 37 X 152806980 152806980 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 152806980 152806980 C G SNP ATP2B3 ENST00000263519 human ensembl 70_37 +1 known silent c.372 p.L124 0.546 smart_ATPase_P-typ_cation-transptr_N pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B3 HGNC ATP2B4 493 genome.wustl.edu 37 1 203696622 203696622 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 203696622 203696622 G C SNP ATP2B4 ENST00000357681 human ensembl 70_37 +1 known missense c.3232 p.E1078Q 1.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B4 HGNC ATP2B4 493 genome.wustl.edu 37 1 203696817 203696817 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 203696817 203696817 G A SNP ATP2B4 ENST00000466407 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ATP2B4 HGNC ATP6V0A1 535 genome.wustl.edu 37 17 40673241 40673241 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 40673241 40673241 C T SNP ATP6V0A1 ENST00000587299 human ensembl 70_37 +1 known rna NULL NULL 0.016 - - - no_errors ATP6V0A1 HGNC ATP6V1G2 534 genome.wustl.edu 37 6 31513120 31513120 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 31513120 31513120 G A SNP ATP6V1G2 ENST00000483170 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ATP6V1G2 HGNC AUTS2 26053 genome.wustl.edu 37 7 70163662 70163662 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 70163662 70163662 C G SNP AUTS2 ENST00000489774 human ensembl 70_37 +1 known rna NULL NULL 0.143 - - - no_errors AUTS2 HGNC AUTS2 26053 genome.wustl.edu 37 7 70231180 70231180 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 70231180 70231180 C T SNP AUTS2 ENST00000342771 human ensembl 70_37 +1 known missense c.1549 p.P517S 1.000 NULL prints_AUTS2 - no_errors AUTS2 HGNC BAIAP3 8938 genome.wustl.edu 37 16 1384720 1384720 + Missense_Mutation SNP A A G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 1384720 1384720 A G SNP BAIAP3 ENST00000324385 human ensembl 70_37 +1 known missense c.58 p.T20A 0.000 NULL pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors BAIAP3 HGNC BBS9 27241 genome.wustl.edu 37 7 33312684 33312684 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 33312684 33312684 C T SNP BBS9 ENST00000242067 human ensembl 70_37 +1 known nonsense c.763 p.Q255* 1.000 NULL NULL - no_errors BBS9 HGNC BCAS1 8537 genome.wustl.edu 37 20 52601929 52601929 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 52601929 52601929 G A SNP BCAS1 ENST00000371440 human ensembl 70_37 -1 known missense c.1172 p.S391L 0.002 NULL NULL - no_errors BCAS1 HGNC BCL11A 53335 genome.wustl.edu 37 2 60780445 60780445 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 60780445 60780445 C T SNP BCL11A ENST00000409351 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors BCL11A HGNC BCL2L15 440603 genome.wustl.edu 37 1 114429234 114429234 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 114429234 114429234 C T SNP BCL2L15 ENST00000393316 human ensembl 70_37 -1 known silent c.174 p.R58 0.262 NULL NULL - no_errors BCL2L15 HGNC BCL6 604 genome.wustl.edu 37 3 187443392 187443392 + Silent SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 187443392 187443392 G T SNP BCL6 ENST00000232014 human ensembl 70_37 -1 known silent c.1734 p.I578 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6 HGNC BCL9 607 genome.wustl.edu 37 1 147096044 147096044 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 147096044 147096044 G C SNP BCL9 ENST00000234739 human ensembl 70_37 +1 known missense c.3565 p.D1189H 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC BCOR 54880 genome.wustl.edu 37 X 39933798 39933798 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 39933798 39933798 G A SNP BCOR ENST00000378444 human ensembl 70_37 -1 known silent c.801 p.L267 0.996 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC BCORL1 63035 genome.wustl.edu 37 X 129139210 129139210 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 129139210 129139210 G A SNP BCORL1 ENST00000303743 human ensembl 70_37 +1 known missense c.3 p.M1I 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC BEND3 57673 genome.wustl.edu 37 6 107392134 107392134 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 107392134 107392134 C T SNP BEND3 ENST00000369042 human ensembl 70_37 -1 known silent c.261 p.R87 0.996 NULL pfam_BEN_domain - no_errors BEND3 HGNC BFAR 51283 genome.wustl.edu 37 16 14749053 14749053 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 14749053 14749053 C A SNP BFAR ENST00000261658 human ensembl 70_37 +1 known missense c.769 p.L257I 1.000 NULL pfam_SAM_type1,pfam_Znf_C3HC4_RING-type,pfam_SAM_2,superfamily_SAM/pointed,smart_Znf_RING,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors BFAR HGNC BICC1 80114 genome.wustl.edu 37 10 60573642 60573642 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 60573642 60573642 G T SNP BICC1 ENST00000373886 human ensembl 70_37 +1 known missense c.2429 p.G810V 1.000 NULL pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC BIN3 55909 genome.wustl.edu 37 8 22478839 22478839 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 22478839 22478839 C G SNP BIN3 ENST00000519335 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors BIN3 HGNC BIRC6 57448 genome.wustl.edu 37 2 32678919 32678919 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 32678919 32678919 C T SNP BIRC6 ENST00000421745 human ensembl 70_37 +1 known silent c.4662 p.F1554 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC BMP2K 55589 genome.wustl.edu 37 4 79782564 79782564 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 79782564 79782564 C G SNP BMP2K ENST00000335016 human ensembl 70_37 +1 known missense c.1009 p.L337V 1.000 superfamily_Kinase-like_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 BMP2K HGNC BMPR2 659 genome.wustl.edu 37 2 203242268 203242268 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 203242268 203242268 C A SNP BMPR2 ENST00000374580 human ensembl 70_37 +1 known missense c.71 p.A24E 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors BMPR2 HGNC BNIP3P1 319138 genome.wustl.edu 37 14 28734085 28734085 + RNA SNP T T A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 28734085 28734085 T A SNP BNIP3P1 ENST00000550043 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors BNIP3P1 HGNC BNIP3P1 319138 genome.wustl.edu 37 14 28734086 28734086 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 28734086 28734086 C T SNP BNIP3P1 ENST00000550043 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors BNIP3P1 HGNC BRAP 8315 genome.wustl.edu 37 12 112119469 112119469 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 112119469 112119469 G C SNP BRAP ENST00000419234 human ensembl 70_37 -1 known missense c.415 p.H139D 1.000 NULL pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP - no_errors BRAP HGNC BRCA1 672 genome.wustl.edu 37 17 41246005 41246005 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 41246005 41246005 C G SNP BRCA1 ENST00000471181 human ensembl 70_37 -1 known missense c.1543 p.E515Q 1.000 pirsf_BRCA1 pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC BRD8 10902 genome.wustl.edu 37 5 137501639 137501639 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 137501639 137501639 G C SNP BRD8 ENST00000254900 human ensembl 70_37 -1 known missense c.1156 p.P386A 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC BRDT 676 genome.wustl.edu 37 1 92441964 92441964 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 92441964 92441964 C T SNP BRDT ENST00000362005 human ensembl 70_37 +1 known missense c.587 p.S196L 0.042 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRDT HGNC BSN 8927 genome.wustl.edu 37 3 49695041 49695041 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 49695041 49695041 C G SNP BSN ENST00000296452 human ensembl 70_37 +1 known silent c.8052 p.V2684 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC BSN 8927 genome.wustl.edu 37 3 49701229 49701229 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 49701229 49701229 G A SNP BSN ENST00000296452 human ensembl 70_37 +1 known missense c.11518 p.E3840K 0.954 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC BTN2A1 11120 genome.wustl.edu 37 6 26465472 26465472 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 26465472 26465472 C T SNP BTN2A1 ENST00000312541 human ensembl 70_37 +1 known silent c.772 p.L258 0.036 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like - no_errors BTN2A1 HGNC BZW2 28969 genome.wustl.edu 37 7 16736606 16736606 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 16736606 16736606 C T SNP BZW2 ENST00000258761 human ensembl 70_37 +1 known silent c.889 p.L297 1.000 superfamily_ARM-type_fold pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain - no_errors BZW2 HGNC BZW2 28969 genome.wustl.edu 37 7 16737784 16737784 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 16737784 16737784 C T SNP BZW2 ENST00000258761 human ensembl 70_37 +1 known nonsense c.1081 p.Q361* 1.000 pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain - no_errors BZW2 HGNC C10orf129 142827 genome.wustl.edu 37 10 96974621 96974621 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 96974621 96974621 G C SNP C10orf129 ENST00000341686 human ensembl 70_37 +1 known missense c.1008 p.K336N 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors C10orf129 HGNC C10orf129 142827 genome.wustl.edu 37 10 96974727 96974727 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 96974727 96974727 G A SNP C10orf129 ENST00000341686 human ensembl 70_37 +1 known missense c.1114 p.E372K 0.977 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors C10orf129 HGNC C10orf2 56652 genome.wustl.edu 37 10 102749583 102749583 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 102749583 102749583 G A SNP C10orf2 ENST00000311916 human ensembl 70_37 +1 known missense c.1426 p.D476N 1.000 pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfscan_DNA_helicase_DnaB-like_C pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfscan_DNA_helicase_DnaB-like_C - no_errors C10orf2 HGNC C10orf25 220979 genome.wustl.edu 37 10 45496289 45496289 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 45496289 45496289 C T SNP C10orf25 ENST00000298298 human ensembl 70_37 -1 known missense c.19 p.E7K 0.004 NULL NULL - no_errors C10orf25 HGNC C11orf34 349633 genome.wustl.edu 37 11 112126250 112126250 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 112126250 112126250 C T SNP C11orf34 ENST00000338832 human ensembl 70_37 -1 known missense c.247 p.D83N 0.000 NULL NULL - no_errors C11orf34 HGNC C12orf56 115749 genome.wustl.edu 37 12 64664437 64664437 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 64664437 64664437 G C SNP C12orf56 ENST00000333722 human ensembl 70_37 -1 known missense c.1162 p.Q388E 0.777 NULL NULL - no_errors C12orf56 HGNC C14orf2 9556 genome.wustl.edu 37 14 104380302 104380302 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 104380302 104380302 C T SNP C14orf2 ENST00000414262 human ensembl 70_37 -1 known silent c.195 p.L65 0.905 pfam_Mit_proteolip pfam_Mit_proteolip - no_errors C14orf2 HGNC C14orf37 145407 genome.wustl.edu 37 14 58605892 58605892 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 58605892 58605892 G A SNP C14orf37 ENST00000267485 human ensembl 70_37 -1 known missense c.185 p.S62L 0.969 NULL NULL - no_errors C14orf37 HGNC C15orf56 644809 genome.wustl.edu 37 15 40544515 40544515 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 40544515 40544515 G T SNP C15orf56 ENST00000319503 human ensembl 70_37 -1 known missense c.457 p.R153S 0.000 NULL NULL - no_errors C15orf56 HGNC C16orf45 89927 genome.wustl.edu 37 16 15675126 15675126 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 15675126 15675126 G T SNP C16orf45 ENST00000300006 human ensembl 70_37 +1 known missense c.357 p.K119N 1.000 pfam_DUF3585 pfam_DUF3585 - no_errors C16orf45 HGNC C16orf71 146562 genome.wustl.edu 37 16 4786568 4786568 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 4786568 4786568 C T SNP C16orf71 ENST00000299320 human ensembl 70_37 +1 known missense c.53 p.S18F 0.076 NULL NULL - no_errors C16orf71 HGNC C16orf74 404550 genome.wustl.edu 37 16 85743872 85743872 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 85743872 85743872 C T SNP C16orf74 ENST00000284245 human ensembl 70_37 -1 known missense c.70 p.E24K 0.972 NULL NULL - no_errors C16orf74 HGNC KNOP1 400506 genome.wustl.edu 37 16 19725832 19725832 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 19725832 19725832 C A SNP C16orf88 ENST00000219837 human ensembl 70_37 -1 known nonsense c.526 p.E176* 0.020 NULL NULL - no_errors C16orf88 HGNC C17orf50 146853 genome.wustl.edu 37 17 34091109 34091109 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 34091109 34091109 G A SNP C17orf50 ENST00000285023 human ensembl 70_37 +1 known missense c.97 p.E33K 0.941 NULL NULL - no_errors C17orf50 HGNC C19orf68 374920 genome.wustl.edu 37 19 48698922 48698922 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 48698922 48698922 G C SNP C19orf68 ENST00000328759 human ensembl 70_37 +1 known missense c.1601 p.R534T 0.003 NULL NULL - no_errors C19orf68 HGNC C1GALT1C1 29071 genome.wustl.edu 37 X 119760175 119760175 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 119760175 119760175 G A SNP C1GALT1C1 ENST00000304661 human ensembl 70_37 -1 known missense c.847 p.P283S 1.000 NULL NULL - no_errors C1GALT1C1 HGNC C1QTNF2 114898 genome.wustl.edu 37 5 159776312 159776312 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 159776312 159776312 G C SNP C1QTNF2 ENST00000393975 human ensembl 70_37 -1 known missense c.856 p.L286V 0.999 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF2 HGNC C1R 715 genome.wustl.edu 37 12 7187958 7187958 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 7187958 7187958 C A SNP C1R ENST00000290575 human ensembl 70_37 -1 known missense c.1885 p.D629Y 0.182 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_CUB,pfam_EGF-like_Ca-bd,pfam_Sushi_SCR_CCP,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors C1R HGNC C1RL 51279 genome.wustl.edu 37 12 7249310 7249310 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 7249310 7249310 C G SNP C1RL ENST00000266542 human ensembl 70_37 -1 known missense c.1141 p.E381Q 0.994 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors C1RL HGNC C1orf101 257044 genome.wustl.edu 37 1 244756713 244756713 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 244756713 244756713 C T SNP C1orf101 ENST00000366534 human ensembl 70_37 +1 known nonsense c.2206 p.Q736* 0.000 NULL NULL - no_errors C1orf101 HGNC C1orf109 54955 genome.wustl.edu 37 1 38156031 38156031 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 38156031 38156031 G C SNP C1orf109 ENST00000461359 human ensembl 70_37 -1 known rna NULL NULL 0.122 - - - no_errors C1orf109 HGNC C1orf116 79098 genome.wustl.edu 37 1 207195735 207195735 + Silent SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 207195735 207195735 C A SNP C1orf116 ENST00000359470 human ensembl 70_37 -1 known silent c.1374 p.P458 0.002 NULL NULL - no_errors C1orf116 HGNC C1orf172 126695 genome.wustl.edu 37 1 27276594 27276594 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 27276594 27276594 G C SNP C1orf172 ENST00000320567 human ensembl 70_37 -1 known missense c.1163 p.S388W 0.993 NULL NULL - no_errors C1orf172 HGNC C1orf51 148523 genome.wustl.edu 37 1 150257222 150257222 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 150257222 150257222 C T SNP C1orf51 ENST00000469255 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors C1orf51 HGNC C1orf94 84970 genome.wustl.edu 37 1 34662969 34662969 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 34662969 34662969 G C SNP C1orf94 ENST00000488417 human ensembl 70_37 +1 known missense c.464 p.R155T 0.000 NULL NULL - no_errors C1orf94 HGNC MROH8 140699 genome.wustl.edu 37 20 35800374 35800374 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 35800374 35800374 C T SNP C20orf132 ENST00000400441 human ensembl 70_37 -1 known missense c.466 p.E156K 0.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C20orf132 HGNC C20orf173 140873 genome.wustl.edu 37 20 34110053 34110053 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 34110053 34110053 G C SNP C20orf173 ENST00000422009 human ensembl 70_37 -1 known rna NULL NULL 0.027 - - - no_errors RP3-477O4.5 Clone_based_vega_gene C21orf88 114041 genome.wustl.edu 37 21 40969553 40969553 + RNA SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 40969553 40969553 C A SNP C21orf88 ENST00000489821 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C21orf88 HGNC TANGO2 128989 genome.wustl.edu 37 22 20030962 20030962 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 20030962 20030962 C T SNP C22orf25 ENST00000456048 human ensembl 70_37 +1 known silent c.156 p.L52 1.000 pfam_DUF833 pfam_DUF833 - no_errors C22orf25 HGNC C22orf31 25770 genome.wustl.edu 37 22 29456577 29456577 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 29456577 29456577 C T SNP C22orf31 ENST00000216071 human ensembl 70_37 -1 known silent c.258 p.K86 0.993 NULL NULL - no_errors C22orf31 HGNC C2CD3 26005 genome.wustl.edu 37 11 73825446 73825446 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 73825446 73825446 C T SNP C2CD3 ENST00000334126 human ensembl 70_37 -1 known silent c.1713 p.V571 0.000 smart_C2_Ca-dep pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors C2CD3 HGNC C2orf16 84226 genome.wustl.edu 37 2 27802541 27802541 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 27802541 27802541 C G SNP C2orf16 ENST00000408964 human ensembl 70_37 +1 known silent c.3102 p.L1034 0.061 NULL NULL - no_errors C2orf16 HGNC C3 718 genome.wustl.edu 37 19 6678219 6678219 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 6678219 6678219 C G SNP C3 ENST00000245907 human ensembl 70_37 -1 known missense c.4794 p.E1598D 0.000 pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C3 HGNC C3orf70 285382 genome.wustl.edu 37 3 184870595 184870595 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 184870595 184870595 G T SNP C3orf70 ENST00000335012 human ensembl 70_37 -1 known nonsense c.17 p.S6* 0.804 NULL NULL - no_errors C3orf70 HGNC C4BPA 722 genome.wustl.edu 37 1 207297628 207297628 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 207297628 207297628 C A SNP C4BPA ENST00000367070 human ensembl 70_37 +1 known nonsense c.623 p.S208* 0.329 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors C4BPA HGNC C4orf29 80167 genome.wustl.edu 37 4 128930140 128930140 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 128930140 128930140 G A SNP C4orf29 ENST00000398965 human ensembl 70_37 +1 known missense c.344 p.G115E 1.000 pfam_DUF2048 pfam_DUF2048 - no_errors C4orf29 HGNC C4orf3 401152 genome.wustl.edu 37 4 120221707 120221707 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 120221707 120221707 C T SNP C4orf3 ENST00000399075 human ensembl 70_37 -1 known missense c.383 p.R128Q 0.000 NULL NULL - no_errors C4orf3 HGNC SMIM14 201895 genome.wustl.edu 37 4 39553345 39553345 + RNA DEL G G - TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 39553345 39553345 G - DEL C4orf34 ENST00000512441 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C4orf34 HGNC C5orf42 65250 genome.wustl.edu 37 5 37125461 37125461 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 37125461 37125461 C G SNP C5orf42 ENST00000425232 human ensembl 70_37 -1 known missense c.8681 p.R2894T 1.000 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC C5orf42 65250 genome.wustl.edu 37 5 37224796 37224796 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 37224796 37224796 G C SNP C5orf42 ENST00000425232 human ensembl 70_37 -1 known missense c.2338 p.Q780E 1.000 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC C6 729 genome.wustl.edu 37 5 41176670 41176670 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 41176670 41176670 C G SNP C6 ENST00000263413 human ensembl 70_37 -1 known missense c.1075 p.D359H 1.000 pfam_MACPF,smart_MACPF,prints_MAC_perforin pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal-type_dom,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C6 HGNC C6orf141 135398 genome.wustl.edu 37 6 49519061 49519061 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 49519061 49519061 G T SNP C6orf141 ENST00000371194 human ensembl 70_37 +1 known nonsense c.556 p.E186* 0.989 NULL NULL - no_errors C6orf141 HGNC C6orf70 55780 genome.wustl.edu 37 6 170179281 170179281 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 170179281 170179281 C G SNP C6orf70 ENST00000366773 human ensembl 70_37 +1 known missense c.1743 p.I581M 0.000 NULL NULL - no_errors C6orf70 HGNC C7 730 genome.wustl.edu 37 5 40945412 40945412 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 40945412 40945412 C A SNP C7 ENST00000313164 human ensembl 70_37 +1 known missense c.680 p.S227Y 0.000 NULL pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C7 HGNC C7orf63 79846 genome.wustl.edu 37 7 89937143 89937143 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 89937143 89937143 G C SNP C7orf63 ENST00000389297 human ensembl 70_37 +1 known missense c.2525 p.R842T 1.000 NULL superfamily_ARM-type_fold - no_errors C7orf63 HGNC C8orf44 56260 genome.wustl.edu 37 8 67591814 67591814 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 67591814 67591814 G C SNP C8orf44 ENST00000518860 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors C8orf44 HGNC C8orf48 157773 genome.wustl.edu 37 8 13425419 13425419 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 13425419 13425419 C G SNP C8orf48 ENST00000297324 human ensembl 70_37 +1 known missense c.919 p.L307V 0.000 NULL NULL - no_errors C8orf48 HGNC C8orf58 541565 genome.wustl.edu 37 8 22460773 22460773 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 22460773 22460773 C T SNP C8orf58 ENST00000289989 human ensembl 70_37 +1 known missense c.1052 p.S351L 0.036 NULL NULL - no_errors C8orf58 HGNC C9orf114 51490 genome.wustl.edu 37 9 131586155 131586155 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 131586155 131586155 G A SNP C9orf114 ENST00000361256 human ensembl 70_37 -1 known silent c.933 p.F311 0.961 pfam_Put_MeTrfase pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold-like - no_errors C9orf114 HGNC C9orf131 138724 genome.wustl.edu 37 9 35042891 35042891 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 35042891 35042891 G A SNP C9orf131 ENST00000312292 human ensembl 70_37 +1 known missense c.265 p.D89N 0.232 NULL NULL - no_errors C9orf131 HGNC CCDC180 100499483 genome.wustl.edu 37 9 100133042 100133042 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 100133042 100133042 G A SNP C9orf174 ENST00000375202 human ensembl 70_37 +1 known missense c.4602 p.M1534I 0.000 NULL NULL - no_errors C9orf174 HGNC CABIN1 23523 genome.wustl.edu 37 22 24451464 24451464 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 24451464 24451464 C T SNP CABIN1 ENST00000263119 human ensembl 70_37 +1 known missense c.935 p.S312F 0.010 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC CACNA1F 778 genome.wustl.edu 37 X 49072855 49072855 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 49072855 49072855 C T SNP CACNA1F ENST00000376265 human ensembl 70_37 -1 known missense c.3256 p.E1086K 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC CACNB4 785 genome.wustl.edu 37 2 152698450 152698450 + Silent SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 152698450 152698450 G T SNP CACNB4 ENST00000339254 human ensembl 70_37 -1 known silent c.1272 p.L424 0.996 NULL pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu - no_errors CACNB4 HGNC CADPS 8618 genome.wustl.edu 37 3 62739410 62739410 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 62739410 62739410 C G SNP CADPS ENST00000383710 human ensembl 70_37 -1 known missense c.594 p.Q198H 1.000 NULL pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC CALHM3 119395 genome.wustl.edu 37 10 105233456 105233456 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 105233456 105233456 G A SNP CALHM3 ENST00000369783 human ensembl 70_37 -1 known silent c.549 p.I183 0.665 NULL NULL - no_errors CALHM3 HGNC CAP1 10487 genome.wustl.edu 37 1 40536182 40536182 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 40536182 40536182 C G SNP CAP1 ENST00000372792 human ensembl 70_37 +1 known missense c.1198 p.Q400E 1.000 pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif pfam_Adenylate_cyclase-assoc_CAP_N,pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif - no_errors CAP1 HGNC CAPN1 823 genome.wustl.edu 37 11 64954750 64954750 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 64954750 64954750 C G SNP CAPN1 ENST00000279247 human ensembl 70_37 +1 known missense c.824 p.S275C 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN1 HGNC CAPN1 823 genome.wustl.edu 37 11 64956162 64956162 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 64956162 64956162 C G SNP CAPN1 ENST00000279247 human ensembl 70_37 +1 known silent c.1110 p.L370 0.034 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN1 HGNC CAPN1 823 genome.wustl.edu 37 11 64974041 64974041 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 64974041 64974041 C A SNP CAPN1 ENST00000279247 human ensembl 70_37 +1 known missense c.1461 p.F487L 1.000 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN1 HGNC CAPN2 824 genome.wustl.edu 37 1 223947151 223947151 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 223947151 223947151 C T SNP CAPN2 ENST00000295006 human ensembl 70_37 +1 known silent c.1497 p.I499 1.000 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN2 HGNC CAPN8 388743 genome.wustl.edu 37 1 223717507 223717507 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 223717507 223717507 G A SNP CAPN8 ENST00000366872 human ensembl 70_37 -1 known silent c.1885 p.L629 0.004 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN8 HGNC CASP8AP2 9994 genome.wustl.edu 37 6 90577366 90577366 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 90577366 90577366 G A SNP CASP8AP2 ENST00000237177 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CASP8AP2 HGNC CATSPERB 79820 genome.wustl.edu 37 14 92083997 92083997 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 92083997 92083997 C G SNP CATSPERB ENST00000256343 human ensembl 70_37 -1 known missense c.2344 p.D782H 0.996 NULL superfamily_Neuraminidase - no_errors CATSPERB HGNC CBWD3 445571 genome.wustl.edu 37 9 70871863 70871863 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 70871863 70871863 G A SNP CBWD3 ENST00000360171 human ensembl 70_37 +1 known missense c.457 p.D153N 1.000 pfam_CobW/HypB/UreG_dom pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C,smart_Cbl_biosynth_CobW-like_C - no_errors CBWD3 HGNC CBX7 23492 genome.wustl.edu 37 22 39530549 39530549 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 39530549 39530549 G A SNP CBX7 ENST00000216133 human ensembl 70_37 -1 known missense c.455 p.S152L 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX7 HGNC CCDC108 255101 genome.wustl.edu 37 2 219868819 219868819 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 219868819 219868819 C T SNP CCDC108 ENST00000341552 human ensembl 70_37 -1 known missense c.5410 p.E1804K 0.044 NULL superfamily_PapD-like,pfscan_Major_sperm - no_errors CCDC108 HGNC CCDC109B 55013 genome.wustl.edu 37 4 110585445 110585445 + Splice_Site SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 110585445 110585445 G C SNP CCDC109B ENST00000394650 human ensembl 70_37 +1 known splice_site c.347-1 e4-1 1.000 - - - no_errors CCDC109B HGNC CCDC116 164592 genome.wustl.edu 37 22 21991321 21991321 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 21991321 21991321 G A SNP CCDC116 ENST00000292779 human ensembl 70_37 +1 known missense c.1804 p.E602K 0.010 NULL NULL - no_errors CCDC116 HGNC CCDC120 90060 genome.wustl.edu 37 X 48922603 48922603 + Nonsense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 48922603 48922603 C G SNP CCDC120 ENST00000422185 human ensembl 70_37 +1 known nonsense c.656 p.S219* 1.000 NULL pfam_DUF3338 - no_errors CCDC120 HGNC CCDC14 64770 genome.wustl.edu 37 3 123675218 123675218 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 123675218 123675218 G C SNP CCDC14 ENST00000488653 human ensembl 70_37 -1 known missense c.287 p.S96C 0.994 NULL NULL - no_errors CCDC14 HGNC CCDC150 284992 genome.wustl.edu 37 2 197596856 197596856 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 197596856 197596856 G A SNP CCDC150 ENST00000389175 human ensembl 70_37 +1 known missense c.3169 p.E1057K 0.968 NULL NULL - no_errors CCDC150 HGNC CCDC168 643677 genome.wustl.edu 37 13 103388334 103388334 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 103388334 103388334 C G SNP CCDC168 ENST00000322527 human ensembl 70_37 -1 known missense c.826 p.E276Q 0.001 NULL NULL - no_errors CCDC168 HGNC CCDC3 83643 genome.wustl.edu 37 10 12940471 12940471 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 12940471 12940471 G A SNP CCDC3 ENST00000378825 human ensembl 70_37 -1 known missense c.758 p.A253V 0.004 NULL NULL - no_errors CCDC3 HGNC CCDC33 80125 genome.wustl.edu 37 15 74623334 74623334 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 74623334 74623334 G C SNP CCDC33 ENST00000321288 human ensembl 70_37 +1 known missense c.2167 p.E723Q 0.997 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors CCDC33 HGNC CCDC57 284001 genome.wustl.edu 37 17 80059623 80059623 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 80059623 80059623 G A SNP CCDC57 ENST00000389641 human ensembl 70_37 -1 known missense c.2686 p.H896Y 0.003 NULL NULL - no_errors CCDC57 HGNC CCDC60 160777 genome.wustl.edu 37 12 119961580 119961580 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 119961580 119961580 G C SNP CCDC60 ENST00000327554 human ensembl 70_37 +1 known missense c.1186 p.E396Q 1.000 NULL NULL - no_errors CCDC60 HGNC CCDC88B 283234 genome.wustl.edu 37 11 64112488 64112488 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 64112488 64112488 G A SNP CCDC88B ENST00000356786 human ensembl 70_37 +1 known silent c.2475 p.R825 0.968 NULL pfam_HOOK - no_errors CCDC88B HGNC CCPG1 9236 genome.wustl.edu 37 15 55664079 55664079 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 55664079 55664079 C G SNP CCPG1 ENST00000310958 human ensembl 70_37 -1 known missense c.618 p.L206F 0.000 NULL NULL - no_errors CCPG1 HGNC CCT6B 10693 genome.wustl.edu 37 17 33267634 33267634 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 33267634 33267634 C G SNP CCT6B ENST00000314144 human ensembl 70_37 -1 known missense c.892 p.D298H 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6B HGNC CCZ1B 221960 genome.wustl.edu 37 7 6859533 6859533 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 6859533 6859533 C A SNP CCZ1B ENST00000316731 human ensembl 70_37 -1 known missense c.562 p.D188Y 1.000 pfam_DUF1712_fun pfam_DUF1712_fun - no_errors CCZ1B HGNC CD97 976 genome.wustl.edu 37 19 14517894 14517894 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 14517894 14517894 C T SNP CD97 ENST00000242786 human ensembl 70_37 +1 known silent c.2229 p.I743 0.149 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt - no_errors CD97 HGNC CD97 976 genome.wustl.edu 37 19 14517903 14517903 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 14517903 14517903 C T SNP CD97 ENST00000242786 human ensembl 70_37 +1 known silent c.2238 p.L746 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt - no_errors CD97 HGNC CD97 976 genome.wustl.edu 37 19 14518909 14518909 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 14518909 14518909 C T SNP CD97 ENST00000242786 human ensembl 70_37 +1 known silent c.2484 p.L828 0.998 NULL pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt - no_errors CD97 HGNC CDC42BPA 8476 genome.wustl.edu 37 1 227262018 227262018 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 227262018 227262018 G A SNP CDC42BPA ENST00000334218 human ensembl 70_37 -1 known missense c.2528 p.S843F 1.000 NULL pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPA HGNC CDH17 1015 genome.wustl.edu 37 8 95164299 95164299 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 95164299 95164299 G C SNP CDH17 ENST00000027335 human ensembl 70_37 -1 known missense c.1593 p.F531L 0.986 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH17 HGNC CDH23 64072 genome.wustl.edu 37 10 73552953 73552953 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 73552953 73552953 C G SNP CDH23 ENST00000224721 human ensembl 70_37 +1 known missense c.6277 p.Q2093E 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC CDHR1 92211 genome.wustl.edu 37 10 85974065 85974065 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 85974065 85974065 C G SNP CDHR1 ENST00000372117 human ensembl 70_37 +1 known silent c.2268 p.L756 0.999 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR1 HGNC CDHR5 53841 genome.wustl.edu 37 11 619042 619042 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 619042 619042 G A SNP CDHR5 ENST00000358353 human ensembl 70_37 -1 known missense c.1517 p.S506F 0.000 NULL superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin - no_errors CDHR5 HGNC CDK18 5129 genome.wustl.edu 37 1 205495892 205495892 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 205495892 205495892 C T SNP CDK18 ENST00000505932 human ensembl 70_37 +1 known rna NULL NULL 0.108 - - - no_errors CDK18 HGNC CDK4 1019 genome.wustl.edu 37 12 58145321 58145321 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 58145321 58145321 C T SNP CDK4 ENST00000257904 human ensembl 70_37 -1 known silent c.180 p.L60 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_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK4 HGNC CDK5R2 8941 genome.wustl.edu 37 2 219825346 219825346 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 219825346 219825346 C T SNP CDK5R2 ENST00000302625 human ensembl 70_37 +1 known silent c.804 p.L268 1.000 pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator - no_errors CDK5R2 HGNC CDKL2 8999 genome.wustl.edu 37 4 76529028 76529028 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 76529028 76529028 G C SNP CDKL2 ENST00000429927 human ensembl 70_37 -1 known silent c.768 p.L256 0.998 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDKL2 HGNC CENPE 1062 genome.wustl.edu 37 4 104082602 104082602 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 104082602 104082602 C T SNP CENPE ENST00000265148 human ensembl 70_37 -1 known missense c.1855 p.D619N 0.610 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 CEP135 9662 genome.wustl.edu 37 4 56820461 56820461 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 56820461 56820461 C G SNP CEP135 ENST00000257287 human ensembl 70_37 +1 known silent c.384 p.L128 0.971 NULL superfamily_Prefoldin - no_errors CEP135 HGNC CEP164 22897 genome.wustl.edu 37 11 117265190 117265190 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 117265190 117265190 G A SNP CEP164 ENST00000278935 human ensembl 70_37 +1 known missense c.2741 p.R914Q 0.505 NULL superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors CEP164 HGNC CEPT1 10390 genome.wustl.edu 37 1 111725406 111725406 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 111725406 111725406 C G SNP CEPT1 ENST00000483427 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors CEPT1 HGNC CFH 3075 genome.wustl.edu 37 1 196716339 196716339 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 196716339 196716339 G A SNP CFH ENST00000367429 human ensembl 70_37 +1 known missense c.3592 p.E1198K 0.996 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC CHCHD2 51142 genome.wustl.edu 37 7 56174064 56174064 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 56174064 56174064 G C SNP CHCHD2 ENST00000395422 human ensembl 70_37 -1 known missense c.43 p.P15A 1.000 NULL pfam_CHCH - no_errors CHCHD2 HGNC CHCHD3 54927 genome.wustl.edu 37 7 132481277 132481277 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 132481277 132481277 C A SNP CHCHD3 ENST00000262570 human ensembl 70_37 -1 known nonsense c.586 p.E196* 0.937 NULL pfam_DUF737 - no_errors CHCHD3 HGNC CHD6 84181 genome.wustl.edu 37 20 40040818 40040818 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 40040818 40040818 C G SNP CHD6 ENST00000373233 human ensembl 70_37 -1 known missense c.7217 p.R2406T 1.000 pfam_BRK_domain,smart_BRK_domain pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC CHD8 57680 genome.wustl.edu 37 14 21861729 21861729 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 21861729 21861729 C G SNP CHD8 ENST00000399982 human ensembl 70_37 -1 known missense c.6225 p.L2075F 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC CHGA 1113 genome.wustl.edu 37 14 93397861 93397861 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 93397861 93397861 C T SNP CHGA ENST00000216492 human ensembl 70_37 +1 known nonsense c.622 p.Q208* 0.048 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGA HGNC CHGB 1114 genome.wustl.edu 37 20 5905674 5905674 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 5905674 5905674 G C SNP CHGB ENST00000378961 human ensembl 70_37 +1 known missense c.2013 p.E671D 1.000 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGB HGNC CHIA 27159 genome.wustl.edu 37 1 111854982 111854982 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 111854982 111854982 C G SNP CHIA ENST00000343320 human ensembl 70_37 +1 known missense c.226 p.L76V 0.996 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom - no_errors CHIA HGNC CHIT1 1118 genome.wustl.edu 37 1 203186868 203186868 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 203186868 203186868 C G SNP CHIT1 ENST00000367229 human ensembl 70_37 -1 known silent c.1155 p.L385 0.483 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom - no_errors CHIT1 HGNC CHRAC1 54108 genome.wustl.edu 37 8 141525317 141525317 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 141525317 141525317 G C SNP CHRAC1 ENST00000220913 human ensembl 70_37 +1 known missense c.367 p.E123Q 0.003 NULL pfam_CBFA_NFYB_domain,superfamily_Histone-fold - no_errors CHRAC1 HGNC CHRDL1 91851 genome.wustl.edu 37 X 109924798 109924798 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 109924798 109924798 G A SNP CHRDL1 ENST00000372042 human ensembl 70_37 -1 known silent c.1068 p.F356 1.000 NULL pfam_VWF_C,smart_VWF_C,pfscan_VWF_C - no_errors CHRDL1 HGNC CIC 23152 genome.wustl.edu 37 19 42794092 42794092 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 42794092 42794092 G C SNP CIC ENST00000160740 human ensembl 70_37 +1 known missense c.1453 p.E485Q 0.995 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors CIC HGNC CIITA 4261 genome.wustl.edu 37 16 11002973 11002973 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 11002973 11002973 C T SNP CIITA ENST00000324288 human ensembl 70_37 +1 known silent c.2745 p.F915 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC CIZ1 25792 genome.wustl.edu 37 9 130928435 130928435 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 130928435 130928435 G C SNP CIZ1 ENST00000461765 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CIZ1 HGNC CIZ1 25792 genome.wustl.edu 37 9 130929266 130929266 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 130929266 130929266 G A SNP CIZ1 ENST00000485001 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors CIZ1 HGNC CKAP2 26586 genome.wustl.edu 37 13 53030687 53030687 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 53030687 53030687 C G SNP CKAP2 ENST00000378037 human ensembl 70_37 +1 known missense c.100 p.L34V 0.723 NULL NULL - no_errors CKAP2 HGNC CKAP4 10970 genome.wustl.edu 37 12 106633787 106633787 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 106633787 106633787 G A SNP CKAP4 ENST00000378026 human ensembl 70_37 -1 known missense c.824 p.S275F 0.303 NULL superfamily_Tscrpt_elong_fac_GreA/B_N,superfamily_STAT_TF_coiled-coil - no_errors CKAP4 HGNC CLCNKA 1187 genome.wustl.edu 37 1 16350317 16350317 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 16350317 16350317 G A SNP CLCNKA ENST00000331433 human ensembl 70_37 +1 known silent c.123 p.Q41 0.948 superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKA HGNC CLDN24 100132463 genome.wustl.edu 37 4 184242961 184242961 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 184242961 184242961 G T SNP CLDN24 ENST00000541814 human ensembl 70_37 -1 known missense c.619 p.Q207K 0.078 NULL pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN24 HGNC CLEC17A 388512 genome.wustl.edu 37 19 14710943 14710943 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 14710943 14710943 C T SNP CLEC17A ENST00000417570 human ensembl 70_37 +1 known silent c.843 p.F281 0.995 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC17A HGNC CLK4 57396 genome.wustl.edu 37 5 178030740 178030740 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 178030740 178030740 C T SNP CLK4 ENST00000316308 human ensembl 70_37 -1 known missense c.1324 p.D442N 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CLK4 HGNC CLSTN1 22883 genome.wustl.edu 37 1 9791276 9791276 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 9791276 9791276 G A SNP CLSTN1 ENST00000377298 human ensembl 70_37 -1 known silent c.2736 p.V912 0.989 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CLSTN1 HGNC CLTC 1213 genome.wustl.edu 37 17 57724983 57724983 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 57724983 57724983 G T SNP CLTC ENST00000269122 human ensembl 70_37 +1 known missense c.475 p.D159Y 1.000 pfam_Clathrin_H-chain_propeller_rpt,superfamily_Clathrin_H-chain_propeller_N,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 CMIP 80790 genome.wustl.edu 37 16 81479049 81479049 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 81479049 81479049 C T SNP CMIP ENST00000537098 human ensembl 70_37 +1 known missense c.203 p.P68L 1.000 NULL NULL - no_errors CMIP HGNC CMYA5 202333 genome.wustl.edu 37 5 79030219 79030219 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 79030219 79030219 C T SNP CMYA5 ENST00000446378 human ensembl 70_37 +1 known silent c.5631 p.V1877 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC CMYA5 202333 genome.wustl.edu 37 5 79054713 79054713 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 79054713 79054713 C T SNP CMYA5 ENST00000446378 human ensembl 70_37 +1 known nonsense c.11248 p.Q3750* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC CNGA4 1262 genome.wustl.edu 37 11 6265412 6265412 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 6265412 6265412 G C SNP CNGA4 ENST00000379936 human ensembl 70_37 +1 known missense c.1501 p.D501H 0.998 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC CNGB1 1258 genome.wustl.edu 37 16 57973451 57973451 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 57973451 57973451 C G SNP CNGB1 ENST00000251102 human ensembl 70_37 -1 known missense c.1255 p.E419Q 0.000 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC CNTD1 124817 genome.wustl.edu 37 17 40956316 40956316 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 40956316 40956316 C T SNP CNTD1 ENST00000588408 human ensembl 70_37 +1 known nonsense c.319 p.Q107* 0.004 superfamily_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like - no_errors CNTD1 HGNC CNTN5 53942 genome.wustl.edu 37 11 99715931 99715931 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 99715931 99715931 C T SNP CNTN5 ENST00000279463 human ensembl 70_37 +1 known nonsense c.514 p.Q172* 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN5 HGNC COL11A2 1302 genome.wustl.edu 37 6 33154583 33154583 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 33154583 33154583 C T SNP COL11A2 ENST00000341947 human ensembl 70_37 -1 known missense c.619 p.E207K 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC COL12A1 1303 genome.wustl.edu 37 6 75825740 75825740 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 75825740 75825740 G A SNP COL12A1 ENST00000322507 human ensembl 70_37 -1 known missense c.7553 p.S2518L 1.000 superfamily_ConA-like_lec_gl_sf pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC COL18A1 80781 genome.wustl.edu 37 21 46925806 46925806 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 46925806 46925806 G C SNP COL18A1 ENST00000359759 human ensembl 70_37 +1 known missense c.4387 p.E1463Q 0.982 pfam_Collagenase_NC10/endostatin pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC COL18A1 80781 genome.wustl.edu 37 21 46925859 46925859 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 46925859 46925859 G C SNP COL18A1 ENST00000359759 human ensembl 70_37 +1 known missense c.4440 p.Q1480H 0.031 pfam_Collagenase_NC10/endostatin pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC COL24A1 255631 genome.wustl.edu 37 1 86591470 86591470 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 86591470 86591470 C G SNP COL24A1 ENST00000370571 human ensembl 70_37 -1 known missense c.549 p.K183N 0.976 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC COL4A1 1282 genome.wustl.edu 37 13 110819508 110819508 + Nonsense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 110819508 110819508 G A SNP COL4A1 ENST00000375820 human ensembl 70_37 -1 known nonsense c.3946 p.Q1316* 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC COL4A5 1287 genome.wustl.edu 37 X 107911727 107911727 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 107911727 107911727 G A SNP COL4A5 ENST00000328300 human ensembl 70_37 +1 known silent c.3783 p.G1261 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC COL6A3 1293 genome.wustl.edu 37 2 238249571 238249571 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 238249571 238249571 C G SNP COL6A3 ENST00000295550 human ensembl 70_37 -1 known missense c.7988 p.R2663T 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC COL7A1 1294 genome.wustl.edu 37 3 48619011 48619011 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 48619011 48619011 C G SNP COL7A1 ENST00000328333 human ensembl 70_37 -1 known missense c.4777 p.D1593H 0.986 NULL pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC CPEB1 64506 genome.wustl.edu 37 15 83226522 83226522 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 83226522 83226522 G C SNP CPEB1 ENST00000562019 human ensembl 70_37 -1 known silent c.594 p.L198 1.000 NULL pfscan_RRM_dom - no_errors CPEB1 HGNC CPSF1 29894 genome.wustl.edu 37 8 145622829 145622829 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 145622829 145622829 G A SNP CPSF1 ENST00000349769 human ensembl 70_37 -1 known missense c.2258 p.S753F 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC CPSF1 29894 genome.wustl.edu 37 8 145625203 145625203 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 145625203 145625203 C G SNP CPSF1 ENST00000349769 human ensembl 70_37 -1 known missense c.1087 p.D363H 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC CPSF1 29894 genome.wustl.edu 37 8 145625597 145625597 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 145625597 145625597 G C SNP CPSF1 ENST00000349769 human ensembl 70_37 -1 known silent c.900 p.L300 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC CPSF2 53981 genome.wustl.edu 37 14 92608640 92608640 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 92608640 92608640 C T SNP CPSF2 ENST00000298875 human ensembl 70_37 +1 known missense c.794 p.S265L 1.000 pfam_Beta_Casp pfam_Beta_Casp,pfam_RMMBL,pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors CPSF2 HGNC CRB2 286204 genome.wustl.edu 37 9 126132855 126132855 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 126132855 126132855 G C SNP CRB2 ENST00000373631 human ensembl 70_37 +1 known missense c.1523 p.R508T 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB2 HGNC CREBBP 1387 genome.wustl.edu 37 16 3817784 3817784 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 3817784 3817784 C A SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known nonsense c.3187 p.E1063* 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC CREBBP 1387 genome.wustl.edu 37 16 3817799 3817799 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 3817799 3817799 C A SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known nonsense c.3172 p.E1058* 0.999 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC CRHR2 1395 genome.wustl.edu 37 7 30721797 30721797 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 30721797 30721797 C T SNP CRHR2 ENST00000471646 human ensembl 70_37 -1 known missense c.100 p.E34K 0.984 pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_CRF2_rcpt 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 CRLF3 51379 genome.wustl.edu 37 17 29111327 29111327 + Nonsense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 29111327 29111327 G A SNP CRLF3 ENST00000324238 human ensembl 70_37 -1 known nonsense c.1207 p.R403* 1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CRLF3 HGNC CRTAC1 55118 genome.wustl.edu 37 10 99677323 99677323 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 99677323 99677323 C T SNP CRTAC1 ENST00000370597 human ensembl 70_37 -1 known missense c.649 p.D217N 1.000 NULL pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd - no_errors CRTAC1 HGNC CRYL1 51084 genome.wustl.edu 37 13 21006309 21006309 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 21006309 21006309 C T SNP CRYL1 ENST00000298248 human ensembl 70_37 -1 known missense c.565 p.E189K 1.000 NULL pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like - no_errors CRYL1 HGNC CSMD1 64478 genome.wustl.edu 37 8 3165225 3165225 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 3165225 3165225 C A SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known missense c.3945 p.K1315N 0.848 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB 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 CSMD1 HGNC CSMD2 114784 genome.wustl.edu 37 1 34082535 34082535 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 34082535 34082535 C T SNP CSMD2 ENST00000373381 human ensembl 70_37 -1 known missense c.5987 p.R1996Q 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 CSMD2 HGNC CSMD3 114788 genome.wustl.edu 37 8 113277728 113277728 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 113277728 113277728 C A SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known missense c.9600 p.Q3200H 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 CSMD3 114788 genome.wustl.edu 37 8 113332155 113332155 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 113332155 113332155 C T SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known silent c.7221 p.L2407 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 CSMD3 114788 genome.wustl.edu 37 8 114186060 114186060 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 114186060 114186060 G C SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known missense c.600 p.I200M 0.956 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 CSPG4 1464 genome.wustl.edu 37 15 75970197 75970197 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 75970197 75970197 C T SNP CSPG4 ENST00000308508 human ensembl 70_37 -1 known missense c.4981 p.E1661K 0.996 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC CSPG5 10675 genome.wustl.edu 37 3 47618348 47618348 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 47618348 47618348 C A SNP CSPG5 ENST00000383738 human ensembl 70_37 -1 known missense c.1168 p.V390L 1.000 NULL pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt - no_errors CSPG5 HGNC CSPG5 10675 genome.wustl.edu 37 3 47618349 47618349 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 47618349 47618349 C T SNP CSPG5 ENST00000383738 human ensembl 70_37 -1 known silent c.1167 p.L389 1.000 NULL pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt - no_errors CSPG5 HGNC CSTF2 1478 genome.wustl.edu 37 X 100077239 100077239 + Splice_Site SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 100077239 100077239 G C SNP CSTF2 ENST00000415585 human ensembl 70_37 +1 known splice_site c.138-1 e3-1 1.000 - - - no_errors CSTF2 HGNC CTAGE5 4253 genome.wustl.edu 37 14 39815196 39815196 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 39815196 39815196 C G SNP CTAGE5 ENST00000396158 human ensembl 70_37 +1 known silent c.1935 p.L645 0.992 NULL NULL - no_errors CTAGE5 HGNC CTBP1 1487 genome.wustl.edu 37 4 1222068 1222068 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 1222068 1222068 C G SNP CTBP1 ENST00000290921 human ensembl 70_37 -1 known missense c.259 p.E87Q 1.000 pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd - no_errors CTBP1 HGNC CTBP2 1488 genome.wustl.edu 37 10 126683113 126683113 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 126683113 126683113 C G SNP CTBP2 ENST00000309035 human ensembl 70_37 -1 known missense c.2325 p.Q775H 1.000 pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC CTSH 1512 genome.wustl.edu 37 15 79237102 79237102 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 79237102 79237102 G A SNP CTSH ENST00000534268 human ensembl 70_37 -1 putative rna NULL NULL 0.025 - - - no_errors CTSH HGNC CTSS 1520 genome.wustl.edu 37 1 150705599 150705599 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 150705599 150705599 C G SNP CTSS ENST00000368985 human ensembl 70_37 -1 known missense c.919 p.E307Q 0.010 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSS HGNC CUL4A 8451 genome.wustl.edu 37 13 113899366 113899366 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 113899366 113899366 C T SNP CUL4A ENST00000375440 human ensembl 70_37 +1 known silent c.1437 p.L479 0.917 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4A HGNC CUX1 1523 genome.wustl.edu 37 7 101813743 101813743 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 101813743 101813743 G A SNP CUX1 ENST00000360264 human ensembl 70_37 +1 known silent c.774 p.Q258 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC CWF19L2 143884 genome.wustl.edu 37 11 107207441 107207442 + Splice_Site INS - - A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 107207441 107207442 - A INS CWF19L2 ENST00000282251 human ensembl 70_37 -1 known splice_site_ins c.2203-3_2203-2 e15-2 0.999:0.586 - - - no_errors CWF19L2 HGNC CWH43 80157 genome.wustl.edu 37 4 48996776 48996776 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 48996776 48996776 C G SNP CWH43 ENST00000226432 human ensembl 70_37 +1 known missense c.652 p.L218V 0.990 NULL superfamily_Endo/exonuclease/phosphatase - no_errors CWH43 HGNC CXorf48 54967 genome.wustl.edu 37 X 134292169 134292169 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 134292169 134292169 G C SNP CXorf48 ENST00000276241 human ensembl 70_37 -1 known missense c.492 p.I164M 0.000 NULL superfamily_NA-bd_OB-fold-like - no_errors CXorf48 HGNC CXorf56 63932 genome.wustl.edu 37 X 118699296 118699296 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 118699296 118699296 G C SNP CXorf56 ENST00000371594 human ensembl 70_37 -1 known nonsense c.23 p.S8* 0.983 NULL NULL - no_errors CXorf56 HGNC CYB5R1 51706 genome.wustl.edu 37 1 202933826 202933826 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 202933826 202933826 G C SNP CYB5R1 ENST00000497655 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CYB5R1 HGNC CYP17A1-AS1 414269 genome.wustl.edu 37 10 104594005 104594005 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 104594005 104594005 C T SNP CYP17A1-AS1 ENST00000369884 human ensembl 70_37 +1 known rna NULL NULL 0.023 - - - no_errors CYP17A1-AS1 HGNC CYP2J2 1573 genome.wustl.edu 37 1 60377994 60377994 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 60377994 60377994 G C SNP CYP2J2 ENST00000492633 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CYP2J2 HGNC CYP4A22 284541 genome.wustl.edu 37 1 47609027 47609027 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 47609027 47609027 G C SNP CYP4A22 ENST00000371891 human ensembl 70_37 +1 known missense c.597 p.K199N 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV - no_errors CYP4A22 HGNC CYP4A22 284541 genome.wustl.edu 37 1 47610227 47610227 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 47610227 47610227 G A SNP CYP4A22 ENST00000371891 human ensembl 70_37 +1 known silent c.903 p.E301 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV - no_errors CYP4A22 HGNC CYP7A1 1581 genome.wustl.edu 37 8 59405044 59405044 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 59405044 59405044 G A SNP CYP7A1 ENST00000301645 human ensembl 70_37 -1 known silent c.1083 p.L361 0.999 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP7A1 HGNC CYTH3 9265 genome.wustl.edu 37 7 6204918 6204918 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 6204918 6204918 C T SNP CYTH3 ENST00000350796 human ensembl 70_37 -1 known nonsense c.1113 p.W371* 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7 - no_errors CYTH3 HGNC CYTH3 9265 genome.wustl.edu 37 7 6204977 6204977 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 6204977 6204977 C T SNP CYTH3 ENST00000350796 human ensembl 70_37 -1 known missense c.1054 p.E352K 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7 - no_errors CYTH3 HGNC CYTH3 9265 genome.wustl.edu 37 7 6209731 6209731 + RNA SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 6209731 6209731 G T SNP CYTH3 ENST00000465320 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CYTH3 HGNC D2HGDH 728294 genome.wustl.edu 37 2 242688385 242688385 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 242688385 242688385 C T SNP D2HGDH ENST00000537090 human ensembl 70_37 +1 known missense c.959 p.S320L 0.011 NULL pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2 - no_errors D2HGDH HGNC DAGLB 221955 genome.wustl.edu 37 7 6487442 6487442 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 6487442 6487442 C T SNP DAGLB ENST00000297056 human ensembl 70_37 -1 known nonsense c.32 p.W11* 1.000 NULL pfam_Lipase_3 - no_errors DAGLB HGNC DAP3 7818 genome.wustl.edu 37 1 155658957 155658957 + RNA SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 155658957 155658957 C A SNP DAP3 ENST00000461479 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DAP3 HGNC DAZL 1618 genome.wustl.edu 37 3 16635205 16635205 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 16635205 16635205 G C SNP DAZL ENST00000399444 human ensembl 70_37 -1 known nonsense c.692 p.S231* 0.967 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DAZL HGNC DBC1 0 genome.wustl.edu 37 9 121929662 121929662 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 121929662 121929662 C G SNP DBC1 ENST00000265922 human ensembl 70_37 -1 known silent c.1986 p.L662 1.000 NULL pfam_MACPF,smart_MACPF - no_errors DBC1 HGNC DCHS1 8642 genome.wustl.edu 37 11 6661191 6661191 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 6661191 6661191 C A SNP DCHS1 ENST00000299441 human ensembl 70_37 -1 known missense c.1654 p.D552Y 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC DCHS2 54798 genome.wustl.edu 37 4 155254118 155254118 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 155254118 155254118 G A SNP DCHS2 ENST00000357232 human ensembl 70_37 -1 known missense c.1745 p.S582F 0.011 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC DCST2 127579 genome.wustl.edu 37 1 155005216 155005216 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 155005216 155005216 G A SNP DCST2 ENST00000368424 human ensembl 70_37 -1 known silent c.468 p.A156 0.474 NULL pfam_DC_STAMP-like - no_errors DCST2 HGNC DCUN1D5 84259 genome.wustl.edu 37 11 102954050 102954050 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 102954050 102954050 C T SNP DCUN1D5 ENST00000260247 human ensembl 70_37 -1 known missense c.184 p.D62N 1.000 NULL pfam_PONY_dom - no_errors DCUN1D5 HGNC DDX19B 11269 genome.wustl.edu 37 16 70363314 70363314 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 70363314 70363314 G A SNP DDX19B ENST00000288071 human ensembl 70_37 +1 known missense c.727 p.E243K 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 DDX19B HGNC DDX5 1655 genome.wustl.edu 37 17 62498149 62498149 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 62498149 62498149 C A SNP DDX5 ENST00000225792 human ensembl 70_37 -1 known missense c.1195 p.D399Y 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,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 DDX5 HGNC DEFB110 245913 genome.wustl.edu 37 6 49976901 49976901 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 49976901 49976901 C G SNP DEFB110 ENST00000393660 human ensembl 70_37 -1 known missense c.139 p.E47Q 0.993 NULL NULL - no_errors DEFB110 HGNC DENND6A 201627 genome.wustl.edu 37 3 57616535 57616535 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 57616535 57616535 C G SNP DENND6A ENST00000311128 human ensembl 70_37 -1 known missense c.1424 p.R475T 1.000 pfam_Afi1_N pfam_Afi1_N,pfam_Secretory_pathway_prot_Avl9,pfam_DENN_dom - no_errors DENND6A HGNC DERL3 91319 genome.wustl.edu 37 22 24179859 24179859 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 24179859 24179859 G A SNP DERL3 ENST00000318109 human ensembl 70_37 -1 known silent c.510 p.L170 0.000 pfam_DER1 pfam_DER1 - no_errors DERL3 HGNC DFNB31 25861 genome.wustl.edu 37 9 117170230 117170230 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 117170230 117170230 G A SNP DFNB31 ENST00000362057 human ensembl 70_37 -1 known silent c.1695 p.S565 0.989 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC DGAT1 8694 genome.wustl.edu 37 8 145540701 145540701 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 145540701 145540701 G A SNP DGAT1 ENST00000332324 human ensembl 70_37 -1 known missense c.1232 p.S411L 0.967 pfam_MBOAT_fam pfam_MBOAT_fam,superfamily_PEP-util_enz_mobile_dom - no_errors DGAT1 HGNC DGCR5 26220 genome.wustl.edu 37 22 18981843 18981843 + RNA SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 18981843 18981843 G T SNP DGCR5 ENST00000438934 human ensembl 70_37 +1 known rna NULL NULL 0.010 - - - no_errors DGCR5 HGNC DGCR8 54487 genome.wustl.edu 37 22 20093767 20093767 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 20093767 20093767 C T SNP DGCR8 ENST00000351989 human ensembl 70_37 +1 known missense c.1856 p.S619F 1.000 NULL pfam_Ds-RNA-bd,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Ds-RNA-bd,pfscan_WW_Rsp5_WWP,pfscan_Ds-RNA-bd - no_errors DGCR8 HGNC DGKK 139189 genome.wustl.edu 37 X 50213452 50213452 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 50213452 50213452 C T SNP DGKK ENST00000376025 human ensembl 70_37 -1 known rna NULL NULL 0.756 - - - no_errors DGKK HGNC DHH 50846 genome.wustl.edu 37 12 49483753 49483753 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 49483753 49483753 C G SNP DHH ENST00000266991 human ensembl 70_37 -1 known missense c.1080 p.L360F 1.000 pfam_Hint_dom,pirsf_Hedgehog,prints_Hedgehog pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,pirsf_Hedgehog,prints_Hedgehog - no_errors DHH HGNC DHRS4-AS1 55449 genome.wustl.edu 37 14 24422973 24422973 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 24422973 24422973 G A SNP DHRS4-AS1 ENST00000553454 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors DHRS4-AS1 HGNC DHTKD1 55526 genome.wustl.edu 37 10 12133641 12133641 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 12133641 12133641 C G SNP DHTKD1 ENST00000263035 human ensembl 70_37 +1 known missense c.1117 p.P373A 1.000 pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors DHTKD1 HGNC DHTKD1 55526 genome.wustl.edu 37 10 12159690 12159690 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 12159690 12159690 C A SNP DHTKD1 ENST00000263035 human ensembl 70_37 +1 known missense c.2338 p.Q780K 0.996 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors DHTKD1 HGNC DHX37 57647 genome.wustl.edu 37 12 125438697 125438697 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 125438697 125438697 C A SNP DHX37 ENST00000308736 human ensembl 70_37 -1 known missense c.2514 p.Q838H 1.000 pfam_Helicase-assoc_dom,smart_Helicase-assoc_dom pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX37 HGNC DHX8 1659 genome.wustl.edu 37 17 41584391 41584391 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 41584391 41584391 C G SNP DHX8 ENST00000262415 human ensembl 70_37 +1 known missense c.1749 p.I583M 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX8 HGNC DHX8 1659 genome.wustl.edu 37 17 41585216 41585216 + Missense_Mutation SNP T T C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 41585216 41585216 T C SNP DHX8 ENST00000262415 human ensembl 70_37 +1 known missense c.2149 p.S717P 0.997 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX8 HGNC DHX8 1659 genome.wustl.edu 37 17 41585217 41585217 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 41585217 41585217 C T SNP DHX8 ENST00000262415 human ensembl 70_37 +1 known missense c.2150 p.S717L 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX8 HGNC DIDO1 11083 genome.wustl.edu 37 20 61525016 61525016 + Splice_Site SNP A A T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 61525016 61525016 A T SNP DIDO1 ENST00000266070 human ensembl 70_37 -1 known splice_site c.3101+2 e10+2 0.988 - - - no_errors DIDO1 HGNC DIP2A 23181 genome.wustl.edu 37 21 47969760 47969760 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 47969760 47969760 G T SNP DIP2A ENST00000318711 human ensembl 70_37 +1 known nonsense c.2602 p.E868* 1.000 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC DIRAS3 9077 genome.wustl.edu 37 1 68512439 68512439 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 68512439 68512439 G A SNP DIRAS3 ENST00000370981 human ensembl 70_37 -1 known missense c.542 p.S181L 0.998 pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors DIRAS3 HGNC DLEC1 9940 genome.wustl.edu 37 3 38159078 38159078 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 38159078 38159078 C T SNP DLEC1 ENST00000346219 human ensembl 70_37 +1 known silent c.4461 p.L1487 0.998 NULL superfamily_PapD-like - no_errors DLEC1 HGNC DLG4 1742 genome.wustl.edu 37 17 7097021 7097021 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 7097021 7097021 G C SNP DLG4 ENST00000293813 human ensembl 70_37 -1 known missense c.1685 p.S562W 0.981 superfamily_SH3_domain,pirsf_M-assoc_guanylate_kinase pfam_Guanylate_kin,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,pfam_L27_1,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG4 HGNC DLG5 9231 genome.wustl.edu 37 10 79572015 79572015 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 79572015 79572015 G A SNP DLG5 ENST00000372391 human ensembl 70_37 -1 known silent c.4146 p.I1382 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG5 HGNC DLG5 9231 genome.wustl.edu 37 10 79601771 79601771 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 79601771 79601771 G A SNP DLG5 ENST00000372391 human ensembl 70_37 -1 known silent c.1305 p.I435 1.000 NULL pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG5 HGNC DLGAP4 22839 genome.wustl.edu 37 20 35128773 35128773 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 35128773 35128773 G A SNP DLGAP4 ENST00000339266 human ensembl 70_37 +1 known silent c.2271 p.Q757 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP4 HGNC DLGAP4 22839 genome.wustl.edu 37 20 35129008 35129008 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 35129008 35129008 G A SNP DLGAP4 ENST00000339266 human ensembl 70_37 +1 known missense c.2506 p.E836K 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP4 HGNC DLX4 1748 genome.wustl.edu 37 17 48051296 48051296 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 48051296 48051296 C T SNP DLX4 ENST00000240306 human ensembl 70_37 +1 known nonsense c.712 p.Q238* 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX4 HGNC DMKN 93099 genome.wustl.edu 37 19 35992775 35992775 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 35992775 35992775 G C SNP DMKN ENST00000408915 human ensembl 70_37 -1 known missense c.31 p.L11V 0.958 NULL NULL - no_errors DMKN HGNC DMRT3 58524 genome.wustl.edu 37 9 990438 990438 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 990438 990438 C T SNP DMRT3 ENST00000190165 human ensembl 70_37 +1 known silent c.852 p.V284 0.999 pfam_DMA,superfamily_UBA-like pfam_DM_DNA-bd,pfam_DMA,superfamily_DM_DNA-bd,superfamily_UBA-like,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT3 HGNC DMXL2 23312 genome.wustl.edu 37 15 51768828 51768828 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 51768828 51768828 C T SNP DMXL2 ENST00000543779 human ensembl 70_37 -1 known missense c.6922 p.E2308K 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC DNAH1 25981 genome.wustl.edu 37 3 52413996 52413996 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 52413996 52413996 G A SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known missense c.7453 p.D2485N 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC DNAH11 8701 genome.wustl.edu 37 7 21604003 21604003 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 21604003 21604003 C G SNP DNAH11 ENST00000328843 human ensembl 70_37 +1 known silent c.1182 p.L394 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC DNAH12 201625 genome.wustl.edu 37 3 57443851 57443851 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 57443851 57443851 C A SNP DNAH12 ENST00000351747 human ensembl 70_37 -1 known nonsense c.2959 p.E987* 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH12 HGNC DNAH14 127602 genome.wustl.edu 37 1 225328694 225328694 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 225328694 225328694 C G SNP DNAH14 ENST00000430092 human ensembl 70_37 +1 known missense c.4428 p.I1476M 0.375 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase - no_errors DNAH14 HGNC DNAH5 1767 genome.wustl.edu 37 5 13868027 13868027 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 13868027 13868027 G A SNP DNAH5 ENST00000265104 human ensembl 70_37 -1 known silent c.3909 p.H1303 0.979 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC DNAH6 1768 genome.wustl.edu 37 2 84954818 84954818 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 84954818 84954818 C G SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known missense c.9998 p.S3333C 0.847 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC DNASE1L1 1774 genome.wustl.edu 37 X 153631423 153631423 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 153631423 153631423 C T SNP DNASE1L1 ENST00000014935 human ensembl 70_37 -1 known missense c.634 p.D212N 0.927 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk - no_errors DNASE1L1 HGNC DNMBP-AS1 100188954 genome.wustl.edu 37 10 101716973 101716973 + RNA SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 101716973 101716973 G T SNP DNMBP-AS1 ENST00000434409 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors DNMBP-AS1 HGNC DNMT3L 29947 genome.wustl.edu 37 21 45675965 45675965 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 45675965 45675965 C G SNP DNMT3L ENST00000270172 human ensembl 70_37 -1 known missense c.589 p.E197Q 0.965 NULL superfamily_Znf_FYVE_PHD - no_errors DNMT3L HGNC DOCK9 23348 genome.wustl.edu 37 13 99567632 99567632 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 99567632 99567632 G A SNP DOCK9 ENST00000339416 human ensembl 70_37 -1 known silent c.846 p.L282 1.000 smart_Pleckstrin_homology pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC DOK6 220164 genome.wustl.edu 37 18 67344969 67344969 + Splice_Site SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 67344969 67344969 G A SNP DOK6 ENST00000382713 human ensembl 70_37 +1 known splice_site c.290-1 e4-1 1.000 - - - no_errors DOK6 HGNC DOPEY1 23033 genome.wustl.edu 37 6 83846971 83846971 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 83846971 83846971 C T SNP DOPEY1 ENST00000349129 human ensembl 70_37 +1 known silent c.3210 p.L1070 0.861 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC DPCD 25911 genome.wustl.edu 37 10 103368688 103368688 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 103368688 103368688 C T SNP DPCD ENST00000370151 human ensembl 70_37 +1 known silent c.501 p.I167 0.991 NULL NULL - no_errors DPCD HGNC DPCR1 135656 genome.wustl.edu 37 6 30917500 30917500 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 30917500 30917500 C G SNP DPCR1 ENST00000462446 human ensembl 70_37 +1 novel missense c.1259 p.S420C 0.005 NULL NULL - no_errors DPCR1 HGNC DPYD 1806 genome.wustl.edu 37 1 97547945 97547945 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 97547945 97547945 C T SNP DPYD ENST00000370192 human ensembl 70_37 -1 known missense c.2848 p.E950K 1.000 NULL pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC DSC1 1823 genome.wustl.edu 37 18 28710590 28710590 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 28710590 28710590 G C SNP DSC1 ENST00000257198 human ensembl 70_37 -1 known missense c.2572 p.L858V 0.000 pfam_Cadherin_cytoplasmic-dom,prints_Desmo_cadherin pfam_Cadherin,pfam_Cadherin_pro_dom,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmocollin,prints_Cadherin,prints_Desmo_cadherin - no_errors DSC1 HGNC DSP 1832 genome.wustl.edu 37 6 7581463 7581463 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 7581463 7581463 G A SNP DSP ENST00000379802 human ensembl 70_37 +1 known silent c.5040 p.L1680 0.984 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC DSPP 1834 genome.wustl.edu 37 4 88536937 88536937 + Silent SNP T T C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 88536937 88536937 T C SNP DSPP ENST00000282478 human ensembl 70_37 +1 known silent c.3123 p.D1041 0.986 NULL NULL - no_errors DSPP HGNC DSPP 1834 genome.wustl.edu 37 4 88536999 88536999 + Missense_Mutation SNP A A G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 88536999 88536999 A G SNP DSPP ENST00000282478 human ensembl 70_37 +1 known missense c.3185 p.D1062G 0.993 NULL NULL - no_errors DSPP HGNC DTX1 1840 genome.wustl.edu 37 12 113531867 113531867 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 113531867 113531867 G T SNP DTX1 ENST00000257600 human ensembl 70_37 +1 known missense c.1190 p.R397L 0.903 NULL pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX1 HGNC DUOX1 53905 genome.wustl.edu 37 15 45433184 45433184 + Nonsense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 45433184 45433184 G A SNP DUOX1 ENST00000561220 human ensembl 70_37 +1 known nonsense c.1308 p.W436* 1.000 pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors DUOX1 HGNC DYNAP 284254 genome.wustl.edu 37 18 52265085 52265085 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 52265085 52265085 C G SNP DYNAP ENST00000321600 human ensembl 70_37 +1 known silent c.342 p.V114 0.942 NULL NULL - no_errors DYNAP HGNC DYNC1H1 1778 genome.wustl.edu 37 14 102474550 102474550 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 102474550 102474550 G A SNP DYNC1H1 ENST00000360184 human ensembl 70_37 +1 known silent c.5853 p.V1951 1.000 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC DYNC1LI1 51143 genome.wustl.edu 37 3 32612168 32612168 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 32612168 32612168 G A SNP DYNC1LI1 ENST00000273130 human ensembl 70_37 -1 known missense c.95 p.S32L 0.921 NULL pfam_Dynein_light_int_chain - no_errors DYNC1LI1 HGNC DZIP1L 199221 genome.wustl.edu 37 3 137787051 137787051 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 137787051 137787051 G C SNP DZIP1L ENST00000327532 human ensembl 70_37 -1 known missense c.1774 p.P592A 0.201 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC DZIP3 9666 genome.wustl.edu 37 3 108351882 108351882 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 108351882 108351882 C T SNP DZIP3 ENST00000361582 human ensembl 70_37 +1 known missense c.779 p.S260F 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC EDEM3 80267 genome.wustl.edu 37 1 184677335 184677335 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 184677335 184677335 C G SNP EDEM3 ENST00000318130 human ensembl 70_37 -1 known missense c.1989 p.L663F 1.000 NULL pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM3 HGNC EDN2 1907 genome.wustl.edu 37 1 41949753 41949753 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 41949753 41949753 G A SNP EDN2 ENST00000372587 human ensembl 70_37 -1 known silent c.186 p.F62 1.000 pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D - no_errors EDN2 HGNC EEF1A1 1915 genome.wustl.edu 37 6 74228906 74228906 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 74228906 74228906 C G SNP EEF1A1 ENST00000309268 human ensembl 70_37 -1 known missense c.370 p.E124Q 1.000 pfam_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A1 HGNC EEF1A1 1915 genome.wustl.edu 37 6 74229171 74229171 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 74229171 74229171 G C SNP EEF1A1 ENST00000309268 human ensembl 70_37 -1 known missense c.213 p.I71M 1.000 pfam_EF_GTP-bd_dom,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A1 HGNC EEF1A1 1915 genome.wustl.edu 37 6 74229671 74229671 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 74229671 74229671 G C SNP EEF1A1 ENST00000309268 human ensembl 70_37 -1 known missense c.79 p.L27V 1.000 pfam_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A1 HGNC EFCAB10 100130771 genome.wustl.edu 37 7 105209661 105209661 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 105209661 105209661 G A SNP EFCAB10 ENST00000480514 human ensembl 70_37 -1 known silent c.348 p.F116 0.985 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b,pfscan_EF_HAND_2 - no_errors EFCAB10 HGNC EFCAB4B 84766 genome.wustl.edu 37 12 3763514 3763514 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 3763514 3763514 C A SNP EFCAB4B ENST00000440314 human ensembl 70_37 -1 known nonsense c.910 p.E304* 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_EF_hand_Ca-bd,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_HAND_2,tigrfam_Small_GTP-bd_dom - no_errors EFCAB4B HGNC EGFLAM 133584 genome.wustl.edu 37 5 38412643 38412643 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 38412643 38412643 G A SNP EGFLAM ENST00000354891 human ensembl 70_37 +1 known missense c.1387 p.E463K 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC EGFLAM 133584 genome.wustl.edu 37 5 38427292 38427292 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 38427292 38427292 C G SNP EGFLAM ENST00000354891 human ensembl 70_37 +1 known missense c.1992 p.I664M 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC EGFR 1956 genome.wustl.edu 37 7 55238200 55238200 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 55238200 55238200 C G SNP EGFR ENST00000344576 human ensembl 70_37 +1 known missense c.2081 p.S694C 0.000 NULL pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat - no_errors EGFR HGNC EHMT1 79813 genome.wustl.edu 37 9 140611105 140611105 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 140611105 140611105 C T SNP EHMT1 ENST00000460843 human ensembl 70_37 +1 known missense c.113 p.S38L 0.750 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC EIF2AK1 27102 genome.wustl.edu 37 7 6068648 6068648 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 6068648 6068648 G A SNP EIF2AK1 ENST00000199389 human ensembl 70_37 -1 known missense c.1348 p.L450F 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 EIF2AK1 HGNC EIF2AK2 5610 genome.wustl.edu 37 2 37365460 37365460 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 37365460 37365460 C G SNP EIF2AK2 ENST00000233057 human ensembl 70_37 -1 known missense c.640 p.E214Q 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ds-RNA-bd,superfamily_Kinase-like_dom,smart_Ds-RNA-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ds-RNA-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EIF2AK2 HGNC AGO2 27161 genome.wustl.edu 37 8 141566014 141566014 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 141566014 141566014 G T SNP EIF2C2 ENST00000220592 human ensembl 70_37 -1 known missense c.1250 p.S417Y 1.000 NULL pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C2 HGNC AGO2 27161 genome.wustl.edu 37 8 141572715 141572715 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 141572715 141572715 G A SNP EIF2C2 ENST00000220592 human ensembl 70_37 -1 known silent c.355 p.L119 0.303 superfamily_PAZ pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C2 HGNC EIF4A2 1974 genome.wustl.edu 37 3 186504951 186504951 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 186504951 186504951 G A SNP EIF4A2 ENST00000440191 human ensembl 70_37 +1 known silent c.810 p.E270 1.000 pfscan_Helicase_C 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 EIF4E3 317649 genome.wustl.edu 37 3 71748779 71748779 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 71748779 71748779 C G SNP EIF4E3 ENST00000425534 human ensembl 70_37 -1 known missense c.330 p.E110D 1.000 pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom - no_errors EIF4E3 HGNC EIF4G3 8672 genome.wustl.edu 37 1 21175959 21175959 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 21175959 21175959 C G SNP EIF4G3 ENST00000374937 human ensembl 70_37 -1 known missense c.3687 p.E1229D 1.000 pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC EIF6 3692 genome.wustl.edu 37 20 33867892 33867892 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 33867892 33867892 G C SNP EIF6 ENST00000415116 human ensembl 70_37 -1 known nonsense c.518 p.S173* 1.000 NULL NULL - no_errors EIF6 HGNC ELF3 1999 genome.wustl.edu 37 1 201981124 201981124 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 201981124 201981124 C T SNP ELF3 ENST00000359651 human ensembl 70_37 +1 known missense c.203 p.S68L 0.991 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets - no_errors ELF3 HGNC ELF3 1999 genome.wustl.edu 37 1 201981255 201981255 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 201981255 201981255 C T SNP ELF3 ENST00000359651 human ensembl 70_37 +1 known silent c.334 p.L112 0.009 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets - no_errors ELF3 HGNC ELF3 1999 genome.wustl.edu 37 1 201982911 201982911 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 201982911 201982911 G A SNP ELF3 ENST00000475698 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors ELF3 HGNC ELMO1 9844 genome.wustl.edu 37 7 37262231 37262231 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 37262231 37262231 C G SNP ELMO1 ENST00000310758 human ensembl 70_37 -1 known missense c.769 p.E257Q 1.000 pfam_DUF3361,superfamily_ARM-type_fold pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ELMO2 63916 genome.wustl.edu 37 20 45023085 45023085 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 45023085 45023085 C G SNP ELMO2 ENST00000439931 human ensembl 70_37 -1 known missense c.37 p.E13Q 1.000 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO2 HGNC ELP4 26610 genome.wustl.edu 37 11 31669288 31669288 + Splice_Site SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 31669288 31669288 G A SNP ELP4 ENST00000395934 human ensembl 70_37 +1 known splice_site c.928-1 e8-1 1.000 - - - no_errors ELP4 HGNC EME2 197342 genome.wustl.edu 37 16 1823777 1823777 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 1823777 1823777 G C SNP EME2 ENST00000307394 human ensembl 70_37 +1 known missense c.319 p.E107Q 0.880 pfam_ERCC4_domain,smart_ERCC4_domain pfam_ERCC4_domain,smart_ERCC4_domain - no_errors EME2 HGNC EMILIN1 11117 genome.wustl.edu 37 2 27306543 27306543 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 27306543 27306543 G T SNP EMILIN1 ENST00000380320 human ensembl 70_37 +1 known nonsense c.2104 p.E702* 0.997 NULL pfam_EMI_domain,pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN1 HGNC EMILIN1 11117 genome.wustl.edu 37 2 27306552 27306552 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 27306552 27306552 G T SNP EMILIN1 ENST00000380320 human ensembl 70_37 +1 known nonsense c.2113 p.E705* 1.000 NULL pfam_EMI_domain,pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN1 HGNC EMX2 2018 genome.wustl.edu 37 10 119308877 119308877 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 119308877 119308877 C G SNP EMX2 ENST00000442245 human ensembl 70_37 +1 known rna NULL NULL 0.994 - - - no_errors EMX2 HGNC ENDOD1 23052 genome.wustl.edu 37 11 94862392 94862392 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 94862392 94862392 C G SNP ENDOD1 ENST00000278505 human ensembl 70_37 +1 known missense c.1152 p.I384M 0.099 NULL pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A - no_errors ENDOD1 HGNC ENPP1 5167 genome.wustl.edu 37 6 132207745 132207745 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 132207745 132207745 C T SNP ENPP1 ENST00000360971 human ensembl 70_37 +1 known missense c.2488 p.H830Y 1.000 pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP1 HGNC ENPP6 133121 genome.wustl.edu 37 4 185138866 185138866 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 185138866 185138866 G C SNP ENPP6 ENST00000296741 human ensembl 70_37 -1 known nonsense c.107 p.S36* 0.024 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ENPP6 HGNC ENSG00000141979 0 genome.wustl.edu 37 19 16677459 16677459 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 16677459 16677459 C G SNP ENSG00000141979 ENST00000409035 human ensembl 70_37 -1 known missense c.1221 p.E407D 1.000 NULL pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors CTD-3222D19.2 Clone_based_vega_gene ENSG00000180574 0 genome.wustl.edu 37 12 10659246 10659246 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 10659246 10659246 G C SNP ENSG00000180574 ENST00000538173 human ensembl 70_37 +1 known missense c.745 p.D249H 1.000 superfamily_Transl_elong_init/rib_B-barrel pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EIF2S3L Uniprot_genename ENSG00000188474 0 genome.wustl.edu 37 19 12223676 12223676 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 12223676 12223676 G C SNP ENSG00000188474 ENST00000339302 human ensembl 70_37 +1 known missense c.1314 p.L438F 0.076 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF788 Uniprot_genename ENSG00000197301 0 genome.wustl.edu 37 12 66275622 66275622 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 66275622 66275622 G C SNP ENSG00000197301 ENST00000439236 human ensembl 70_37 -1 putative nonsense c.143 p.S48* 0.001 NULL NULL - no_errors RP11-366L20.2 Clone_based_vega_gene ENSG00000203279 0 genome.wustl.edu 37 9 100000946 100000946 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 100000946 100000946 G C SNP ENSG00000203279 ENST00000366109 human ensembl 70_37 -1 known rna NULL NULL 0.857 - - - no_errors RP11-498P14.5 Clone_based_vega_gene ENSG00000205106 0 genome.wustl.edu 37 11 45793181 45793181 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 45793181 45793181 G A SNP ENSG00000205106 ENST00000378779 human ensembl 70_37 +1 putative missense c.46 p.E16K 0.003 NULL NULL - no_errors CTD-2210P24.4 Clone_based_vega_gene ENSG00000205312 0 genome.wustl.edu 37 17 16755071 16755071 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 16755071 16755071 C G SNP ENSG00000205312 ENST00000579946 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC022596.2 Clone_based_vega_gene ENSG00000211528 0 genome.wustl.edu 37 18 13823981 13823981 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 13823981 13823981 C G SNP ENSG00000211528 ENST00000390194 human ensembl 70_37 -1 novel rna NULL NULL 0.003 - - - no_errors AP001525.1 Clone_based_ensembl_gene ENSG00000214719 0 genome.wustl.edu 37 17 28960193 28960193 + RNA SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 28960193 28960193 C A SNP ENSG00000214719 ENST00000398849 human ensembl 70_37 +1 known rna NULL NULL 0.012 - - - no_errors AC005562.1 Clone_based_vega_gene ENSG00000219016 0 genome.wustl.edu 37 22 48942355 48942355 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 48942355 48942355 G C SNP ENSG00000219016 ENST00000407505 human ensembl 70_37 -1 putative missense c.41 p.S14C 0.001 NULL NULL - no_errors CTA-299D3.8 Clone_based_vega_gene ENSG00000219492 0 genome.wustl.edu 37 4 9386118 9386118 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 9386118 9386118 G C SNP ENSG00000219492 ENST00000508324 human ensembl 70_37 -1 novel missense c.526 p.L176V 0.008 smart_Znf_C2H2-like,pfscan_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 RP11-1396O13.13 Clone_based_vega_gene ENSG00000222033 0 genome.wustl.edu 37 2 171570358 171570358 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 171570358 171570358 C T SNP ENSG00000222033 ENST00000409786 human ensembl 70_37 -1 novel missense c.596 p.R199Q 0.000 NULL NULL - no_errors AC007405.2 Clone_based_vega_gene ENSG00000224298 0 genome.wustl.edu 37 17 34415880 34415880 + RNA SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 34415880 34415880 C A SNP ENSG00000224298 ENST00000592728 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC069363.1 Clone_based_vega_gene ENSG00000224477 0 genome.wustl.edu 37 6 161121592 161121592 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 161121592 161121592 G C SNP ENSG00000224477 ENST00000447702 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP1-81D8.3 Clone_based_vega_gene ENSG00000225243 0 genome.wustl.edu 37 1 171168640 171168640 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 171168640 171168640 C T SNP ENSG00000225243 ENST00000422841 human ensembl 70_37 -1 known rna NULL NULL 0.715 - - - no_errors RP1-127D3.4 Clone_based_vega_gene ENSG00000226113 0 genome.wustl.edu 37 10 38622073 38622073 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 38622073 38622073 G C SNP ENSG00000226113 ENST00000450980 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-672F9.1 Clone_based_vega_gene ENSG00000231421 0 genome.wustl.edu 37 17 28903075 28903075 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 28903075 28903075 C T SNP ENSG00000231421 ENST00000436477 human ensembl 70_37 -1 known rna NULL NULL 0.115 - - - no_errors AC006050.2 Clone_based_vega_gene ENSG00000231486 0 genome.wustl.edu 37 2 89156812 89156812 + RNA SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 89156812 89156812 G T SNP ENSG00000231486 ENST00000430694 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors AC096579.7 Clone_based_vega_gene ENSG00000233858 0 genome.wustl.edu 37 8 49503250 49503250 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 49503250 49503250 C T SNP ENSG00000233858 ENST00000430626 human ensembl 70_37 +1 known rna NULL NULL 0.021 - - - no_errors AC026904.1 Clone_based_vega_gene ENSG00000235578 0 genome.wustl.edu 37 22 20331829 20331829 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 20331829 20331829 C T SNP ENSG00000235578 ENST00000458154 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors XXbac-B33L19.4 Clone_based_vega_gene ENSG00000236233 0 genome.wustl.edu 37 9 67793799 67793799 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 67793799 67793799 G C SNP ENSG00000236233 ENST00000315762 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors RP11-12A20.7 Clone_based_vega_gene ENSG00000238045 0 genome.wustl.edu 37 16 29821265 29821265 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 29821265 29821265 G A SNP ENSG00000238045 ENST00000416168 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC009133.14 Clone_based_vega_gene ENSG00000242082 0 genome.wustl.edu 37 22 32665566 32665566 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 32665566 32665566 C G SNP ENSG00000242082 ENST00000434942 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP1-90G24.10 Clone_based_vega_gene ENSG00000249690 0 genome.wustl.edu 37 4 151500783 151500783 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 151500783 151500783 G C SNP ENSG00000249690 ENST00000507934 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-1336O20.2 Clone_based_vega_gene ENSG00000253374 0 genome.wustl.edu 37 8 82433957 82433957 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 82433957 82433957 G C SNP ENSG00000253374 ENST00000518637 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-257P3.3 Clone_based_vega_gene ENSG00000253374 0 genome.wustl.edu 37 8 82433986 82433986 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 82433986 82433986 C G SNP ENSG00000253374 ENST00000518637 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-257P3.3 Clone_based_vega_gene ENSG00000254154 0 genome.wustl.edu 37 1 178003886 178003886 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 178003886 178003886 G C SNP ENSG00000254154 ENST00000464428 human ensembl 70_37 -1 known rna NULL NULL 0.919 - - - no_errors RP4-798P15.3 Clone_based_vega_gene ENSG00000254452 0 genome.wustl.edu 37 11 66044847 66044847 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 66044847 66044847 C T SNP ENSG00000254452 ENST00000526951 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-867G23.4 Clone_based_vega_gene ENSG00000254553 0 genome.wustl.edu 37 1 32936792 32936792 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 32936792 32936792 G C SNP ENSG00000254553 ENST00000480336 human ensembl 70_37 +1 known silent c.567 p.L189 0.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors RP1-27O5.3 Clone_based_vega_gene ENSG00000255537 0 genome.wustl.edu 37 11 125365289 125365289 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 125365289 125365289 C G SNP ENSG00000255537 ENST00000527818 human ensembl 70_37 +1 putative missense c.65 p.S22W 0.000 NULL NULL - no_errors AP000708.1 Clone_based_vega_gene ENSG00000257557 0 genome.wustl.edu 37 12 80328896 80328896 + RNA SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 80328896 80328896 G T SNP ENSG00000257557 ENST00000552885 human ensembl 70_37 +1 known rna NULL NULL 0.862 - - - no_errors RP11-84G21.1 Clone_based_vega_gene ENSG00000259422 0 genome.wustl.edu 37 15 76467873 76467873 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 76467873 76467873 C G SNP ENSG00000259422 ENST00000558424 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-593F23.1 Clone_based_vega_gene ENSG00000260175 0 genome.wustl.edu 37 14 23745586 23745586 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 23745586 23745586 G A SNP ENSG00000260175 ENST00000431326 human ensembl 70_37 -1 known missense c.857 p.S286F 0.480 NULL superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors RP11-124D2.6 Clone_based_vega_gene ENSG00000260345 0 genome.wustl.edu 37 16 57496530 57496530 + RNA SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 57496530 57496530 C A SNP ENSG00000260345 ENST00000567090 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC009052.12 Clone_based_vega_gene ENSG00000261303 0 genome.wustl.edu 37 15 79023387 79023387 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 79023387 79023387 C G SNP ENSG00000261303 ENST00000568337 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-160C18.2 Clone_based_vega_gene ENSG00000261759 0 genome.wustl.edu 37 16 19132882 19132882 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 19132882 19132882 G C SNP ENSG00000261759 ENST00000567236 human ensembl 70_37 -1 known rna NULL NULL 0.274 - - - no_errors RP11-626G11.3 Clone_based_vega_gene ENSG00000262160 0 genome.wustl.edu 37 16 68260232 68260232 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 68260232 68260232 C G SNP ENSG00000262160 ENST00000571197 human ensembl 70_37 -1 known rna NULL NULL 0.235 - - - no_errors RP11-96D1.11 Clone_based_vega_gene ENSG00000265798 0 genome.wustl.edu 37 17 29369282 29369282 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 29369282 29369282 G A SNP ENSG00000265798 ENST00000581652 human ensembl 70_37 -1 known rna NULL NULL 0.977 - - - no_errors RP11-271K11.5 Clone_based_vega_gene ENSG00000266008 0 genome.wustl.edu 37 19 21880247 21880247 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 21880247 21880247 C G SNP ENSG00000266008 ENST00000579236 human ensembl 70_37 +1 novel rna NULL NULL 0.036 - - - no_errors AC092364.4 Clone_based_ensembl_gene ENSG00000266341 0 genome.wustl.edu 37 17 46138014 46138014 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 46138014 46138014 G A SNP ENSG00000266341 ENST00000583349 human ensembl 70_37 -1 known rna NULL NULL 0.039 - - - no_errors RP5-890E16.4 Clone_based_vega_gene ENSG00000266590 0 genome.wustl.edu 37 11 35882269 35882269 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 35882269 35882269 G C SNP ENSG00000266590 ENST00000580945 human ensembl 70_37 -1 novel rna NULL NULL 0.850 - - - no_errors AC090692.1 Clone_based_ensembl_gene ENSG00000266601 0 genome.wustl.edu 37 17 46007130 46007130 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 46007130 46007130 G C SNP ENSG00000266601 ENST00000584276 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors RP11-6N17.3 Clone_based_vega_gene ENSG00000266830 0 genome.wustl.edu 37 17 26574919 26574919 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 26574919 26574919 G C SNP ENSG00000266830 ENST00000579045 human ensembl 70_37 -1 known rna NULL NULL 0.698 - - - no_errors CTD-2008P7.8 Clone_based_vega_gene ENSG00000268568 0 genome.wustl.edu 37 19 57184089 57184089 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 57184089 57184089 C T SNP ENSG00000268568 ENST00000602145 human ensembl 70_37 -1 known rna NULL NULL 0.994 - - - no_errors AC007228.9 Clone_based_vega_gene EP300 2033 genome.wustl.edu 37 22 41574358 41574358 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 41574358 41574358 C T SNP EP300 ENST00000263253 human ensembl 70_37 +1 known nonsense c.6643 p.Q2215* 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC EP400 57634 genome.wustl.edu 37 12 132445647 132445647 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 132445647 132445647 C T SNP EP400 ENST00000333577 human ensembl 70_37 +1 known silent c.483 p.L161 0.223 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC EPS8 2059 genome.wustl.edu 37 12 15793665 15793665 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 15793665 15793665 G A SNP EPS8 ENST00000281172 human ensembl 70_37 -1 known missense c.1793 p.A598V 1.000 superfamily_SH3_domain pfam_PTB,pfam_SH3_domain,pfam_PTyr_interaction_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8 HGNC ERAL1 26284 genome.wustl.edu 37 17 27182228 27182228 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 27182228 27182228 C T SNP ERAL1 ENST00000254928 human ensembl 70_37 +1 known missense c.176 p.S59L 0.001 NULL pfam_GTP_binding_domain,pfam_MIRO-like,pfam_Dynamin_GTPase,pfam_AIG1,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_KH_prok-type,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors ERAL1 HGNC ERBB2 2064 genome.wustl.edu 37 17 37883623 37883623 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 37883623 37883623 G A SNP ERBB2 ENST00000269571 human ensembl 70_37 +1 known missense c.3235 p.E1079K 0.537 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB2 HGNC ERBB3 2065 genome.wustl.edu 37 12 56489566 56489566 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 56489566 56489566 G A SNP ERBB3 ENST00000267101 human ensembl 70_37 +1 known missense c.2031 p.M677I 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB3 HGNC ERMN 57471 genome.wustl.edu 37 2 158178248 158178248 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 158178248 158178248 C T SNP ERMN ENST00000397283 human ensembl 70_37 -1 known silent c.429 p.Q143 0.000 NULL superfamily_Moesin - no_errors ERMN HGNC ERVMER34-1 100288413 genome.wustl.edu 37 4 53611528 53611528 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 53611528 53611528 C T SNP ERVMER34-1 ENST00000440542 human ensembl 70_37 -1 known missense c.160 p.E54K 0.006 NULL pfam_TLV/ENV_coat_polyprotein - no_errors ERVMER34-1 HGNC ESYT2 57488 genome.wustl.edu 37 7 158580781 158580781 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 158580781 158580781 G A SNP ESYT2 ENST00000251527 human ensembl 70_37 -1 known missense c.805 p.H269Y 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors ESYT2 HGNC ESYT3 83850 genome.wustl.edu 37 3 138178868 138178868 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 138178868 138178868 C T SNP ESYT3 ENST00000389567 human ensembl 70_37 +1 known nonsense c.730 p.Q244* 0.019 NULL 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 EVX2 344191 genome.wustl.edu 37 2 176947126 176947126 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 176947126 176947126 G C SNP EVX2 ENST00000308618 human ensembl 70_37 -1 known nonsense c.479 p.S160* 0.243 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Antifreeze_1,prints_Homeobox_metazoa - no_errors EVX2 HGNC EXOG 9941 genome.wustl.edu 37 3 38565708 38565708 + Nonsense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 38565708 38565708 C G SNP EXOG ENST00000287675 human ensembl 70_37 +1 known nonsense c.962 p.S321* 0.368 NULL pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A - no_errors EXOG HGNC EYA2 2139 genome.wustl.edu 37 20 45630107 45630107 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 45630107 45630107 C G SNP EYA2 ENST00000327619 human ensembl 70_37 +1 known missense c.150 p.F50L 0.000 NULL pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA2 HGNC EYS 346007 genome.wustl.edu 37 6 64430725 64430725 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 64430725 64430725 C T SNP EYS ENST00000370616 human ensembl 70_37 -1 known missense c.9265 p.E3089K 0.995 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC EYS 346007 genome.wustl.edu 37 6 64431558 64431558 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 64431558 64431558 C G SNP EYS ENST00000370616 human ensembl 70_37 -1 known missense c.8432 p.R2811T 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC EZH1 2145 genome.wustl.edu 37 17 40857136 40857136 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 40857136 40857136 C T SNP EZH1 ENST00000428826 human ensembl 70_37 -1 known silent c.1905 p.K635 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH1 HGNC EZR 7430 genome.wustl.edu 37 6 159191802 159191802 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 159191802 159191802 C T SNP EZR ENST00000337147 human ensembl 70_37 -1 known missense c.1084 p.E362K 0.001 pirsf_ERM,pfam_ERM_C pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin,prints_Band_41_fam - no_errors EZR HGNC F5 2153 genome.wustl.edu 37 1 169521893 169521893 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 169521893 169521893 C T SNP F5 ENST00000367796 human ensembl 70_37 -1 known missense c.1198 p.E400K 0.743 superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC F8A1 8263 genome.wustl.edu 37 X 154115559 154115559 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 154115559 154115559 G C SNP F8A1 ENST00000369446 human ensembl 70_37 +1 known missense c.910 p.D304H 0.134 NULL NULL - no_errors F8A1 HGNC FAHD2B 151313 genome.wustl.edu 37 2 97749843 97749843 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 97749843 97749843 C G SNP FAHD2B ENST00000467092 human ensembl 70_37 -1 known rna NULL NULL 0.232 - - - no_errors FAHD2B HGNC FAM105A 54491 genome.wustl.edu 37 5 14609093 14609093 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 14609093 14609093 G A SNP FAM105A ENST00000274217 human ensembl 70_37 +1 known silent c.864 p.L288 1.000 prints_FAM105,prints_FAM105A prints_FAM105,prints_FAM105A - no_errors FAM105A HGNC ABHD17C 58489 genome.wustl.edu 37 15 80988091 80988091 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 80988091 80988091 C G SNP FAM108C1 ENST00000258884 human ensembl 70_37 +1 known silent c.321 p.V107 0.998 NULL pfam_Peptidase_S9,pfam_Dienelactn_hydro - no_errors FAM108C1 HGNC FAM109B 150368 genome.wustl.edu 37 22 42473571 42473571 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 42473571 42473571 G C SNP FAM109B ENST00000321753 human ensembl 70_37 +1 known missense c.274 p.D92H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FAM109B HGNC FAM111B 374393 genome.wustl.edu 37 11 58892532 58892532 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 58892532 58892532 G A SNP FAM111B ENST00000343597 human ensembl 70_37 +1 known missense c.962 p.R321K 0.000 NULL superfamily_Pept_cys/ser_Trypsin-like - no_errors FAM111B HGNC FAM122B 159090 genome.wustl.edu 37 X 133923621 133923621 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 133923621 133923621 G C SNP FAM122B ENST00000343004 human ensembl 70_37 -1 known missense c.223 p.Q75E 1.000 NULL NULL - no_errors FAM122B HGNC FAM122B 159090 genome.wustl.edu 37 X 133931210 133931210 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 133931210 133931210 C T SNP FAM122B ENST00000467413 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors FAM122B HGNC FAM136A 84908 genome.wustl.edu 37 2 70528713 70528713 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 70528713 70528713 C T SNP FAM136A ENST00000450256 human ensembl 70_37 -1 novel missense c.110 p.R37K 0.000 NULL NULL - no_errors FAM136A HGNC FAM136A 84908 genome.wustl.edu 37 2 70528853 70528853 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 70528853 70528853 C G SNP FAM136A ENST00000430566 human ensembl 70_37 -1 novel silent c.291 p.A97 0.000 NULL pfam_DUF842_euk - no_errors FAM136A HGNC FAM138D 677784 genome.wustl.edu 37 12 148731 148731 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 148731 148731 C T SNP FAM138D ENST00000320165 human ensembl 70_37 -1 known rna NULL NULL 0.094 - - - no_errors FAM138D HGNC FAM13A 10144 genome.wustl.edu 37 4 89679920 89679920 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 89679920 89679920 C T SNP FAM13A ENST00000264344 human ensembl 70_37 -1 known missense c.1711 p.E571K 0.960 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13A HGNC FAM13A 10144 genome.wustl.edu 37 4 89702330 89702330 + Nonsense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 89702330 89702330 G A SNP FAM13A ENST00000264344 human ensembl 70_37 -1 known nonsense c.1444 p.Q482* 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13A HGNC FAM168B 130074 genome.wustl.edu 37 2 131813260 131813260 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 131813260 131813260 G C SNP FAM168B ENST00000389915 human ensembl 70_37 -1 known missense c.163 p.P55A 1.000 NULL NULL - no_errors FAM168B HGNC FAM175A 84142 genome.wustl.edu 37 4 84384051 84384051 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 84384051 84384051 C G SNP FAM175A ENST00000321945 human ensembl 70_37 -1 known missense c.801 p.E267D 0.992 NULL prints_FAM175_BRCA1-A_cplx_Abraxas_su,prints_FAM175,prints_FAM175_BRISC_cplx_Abro1_su - no_errors FAM175A HGNC FAM186A 121006 genome.wustl.edu 37 12 50725554 50725554 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 50725554 50725554 G A SNP FAM186A ENST00000327337 human ensembl 70_37 -1 known silent c.6747 p.I2249 0.000 NULL NULL - no_errors FAM186A HGNC FAM193A 8603 genome.wustl.edu 37 4 2701497 2701497 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 2701497 2701497 G A SNP FAM193A ENST00000324666 human ensembl 70_37 +1 known missense c.2725 p.D909N 0.012 NULL NULL - no_errors FAM193A HGNC FAM196B 100131897 genome.wustl.edu 37 5 169310240 169310240 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 169310240 169310240 G C SNP FAM196B ENST00000377365 human ensembl 70_37 -1 known silent c.663 p.L221 0.283 NULL NULL - no_errors FAM196B HGNC FAM204A 63877 genome.wustl.edu 37 10 120095732 120095732 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 120095732 120095732 C T SNP FAM204A ENST00000369172 human ensembl 70_37 -1 known missense c.196 p.E66K 0.863 NULL NULL - no_errors FAM204A HGNC FAM205A 259308 genome.wustl.edu 37 9 34725732 34725732 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 34725732 34725732 G C SNP FAM205A ENST00000378788 human ensembl 70_37 -1 novel missense c.1505 p.S502C 0.002 NULL NULL - no_errors FAM205A HGNC FAM208A 23272 genome.wustl.edu 37 3 56667358 56667358 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 56667358 56667358 G A SNP FAM208A ENST00000355628 human ensembl 70_37 -1 known missense c.3278 p.S1093L 0.868 NULL pfam_DUF3715 - no_errors FAM208A HGNC FAM210A 125228 genome.wustl.edu 37 18 13666565 13666565 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 13666565 13666565 C T SNP FAM210A ENST00000322247 human ensembl 70_37 -1 known missense c.733 p.E245K 1.000 NULL pfam_DUF1279 - no_errors FAM210A HGNC FAM217B 63939 genome.wustl.edu 37 20 58520099 58520099 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 58520099 58520099 G C SNP FAM217B ENST00000358293 human ensembl 70_37 +1 known missense c.1101 p.E367D 1.000 NULL NULL - no_errors FAM217B HGNC FAM21C 253725 genome.wustl.edu 37 10 46282505 46282505 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 46282505 46282505 C T SNP FAM21C ENST00000374362 human ensembl 70_37 +1 known missense c.2834 p.A945V 1.000 NULL NULL - no_errors FAM21C HGNC FAM227A 646851 genome.wustl.edu 37 22 39003465 39003465 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 39003465 39003465 G A SNP FAM227A ENST00000406767 human ensembl 70_37 -1 known missense c.1040 p.S347L 0.000 NULL superfamily_Staphylocoagulase_N - no_errors FAM227A HGNC FAM24A 118670 genome.wustl.edu 37 10 124672381 124672381 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 124672381 124672381 C T SNP FAM24A ENST00000368894 human ensembl 70_37 +1 known missense c.229 p.P77S 0.000 NULL NULL - no_errors FAM24A HGNC FAM26F 441168 genome.wustl.edu 37 6 116783191 116783191 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 116783191 116783191 C G SNP FAM26F ENST00000368605 human ensembl 70_37 +1 known missense c.99 p.I33M 1.000 NULL NULL - no_errors FAM26F HGNC FAM35A 54537 genome.wustl.edu 37 10 88911721 88911721 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 88911721 88911721 C T SNP FAM35A ENST00000298786 human ensembl 70_37 +1 known missense c.610 p.H204Y 0.006 NULL NULL - no_errors FAM35A HGNC FAM46D 169966 genome.wustl.edu 37 X 79698858 79698858 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 79698858 79698858 G T SNP FAM46D ENST00000308293 human ensembl 70_37 +1 known nonsense c.820 p.E274* 0.000 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46D HGNC FAM47C 442444 genome.wustl.edu 37 X 37027435 37027435 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 37027435 37027435 C T SNP FAM47C ENST00000358047 human ensembl 70_37 +1 known missense c.952 p.L318F 0.070 NULL NULL - no_errors FAM47C HGNC GAREM 64762 genome.wustl.edu 37 18 29847959 29847959 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 29847959 29847959 C T SNP FAM59A ENST00000269209 human ensembl 70_37 -1 known missense c.2506 p.E836K 1.000 superfamily_SAM/pointed superfamily_SAM/pointed - no_errors FAM59A HGNC FAM69C 125704 genome.wustl.edu 37 18 72114012 72114012 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 72114012 72114012 G A SNP FAM69C ENST00000343998 human ensembl 70_37 -1 known silent c.705 p.L235 0.999 superfamily_Kinase-like_dom pfam_Uncharacterised_FAM69,superfamily_Kinase-like_dom - no_errors FAM69C HGNC FAM71D 161142 genome.wustl.edu 37 14 67691851 67691851 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 67691851 67691851 C G SNP FAM71D ENST00000311864 human ensembl 70_37 +1 known missense c.1206 p.I402M 0.003 NULL pfam_DUF3699 - no_errors FAM71D HGNC FAM86B3P 286042 genome.wustl.edu 37 8 8092035 8092035 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 8092035 8092035 G C SNP FAM86B3P ENST00000522601 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors FAM86B3P HGNC FAM86C2P 645332 genome.wustl.edu 37 11 67559472 67559472 + RNA SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 67559472 67559472 G T SNP FAM86C2P ENST00000528089 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM86C2P HGNC FANCA 2175 genome.wustl.edu 37 16 89849303 89849303 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 89849303 89849303 G C SNP FANCA ENST00000389301 human ensembl 70_37 -1 known silent c.1590 p.L530 0.851 NULL pfam_Fanconia,prints_Fanconia - no_errors FANCA HGNC FANCL 55120 genome.wustl.edu 37 2 58390039 58390039 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 58390039 58390039 C G SNP FANCL ENST00000233741 human ensembl 70_37 -1 known missense c.865 p.E289Q 1.000 pfam_FancL_WD-rpt_cont_dom pfam_FancL_WD-rpt_cont_dom - no_errors FANCL HGNC FARP2 9855 genome.wustl.edu 37 2 242430536 242430536 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 242430536 242430536 G C SNP FARP2 ENST00000264042 human ensembl 70_37 +1 known missense c.2565 p.K855N 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FARP2 HGNC FASN 2194 genome.wustl.edu 37 17 80040794 80040794 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 80040794 80040794 C T SNP FASN ENST00000306749 human ensembl 70_37 -1 known silent c.5763 p.R1921 0.853 pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,smart_PKS/FAS_KR pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC FASN 2194 genome.wustl.edu 37 17 80041486 80041486 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 80041486 80041486 C T SNP FASN ENST00000306749 human ensembl 70_37 -1 known missense c.5248 p.E1750K 1.000 pfam_ADH_C,smart_PKS_ER pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC FASN 2194 genome.wustl.edu 37 17 80042558 80042558 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 80042558 80042558 C G SNP FASN ENST00000306749 human ensembl 70_37 -1 known silent c.4599 p.V1533 0.965 NULL pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC FASN 2194 genome.wustl.edu 37 17 80043493 80043493 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 80043493 80043493 G C SNP FASN ENST00000306749 human ensembl 70_37 -1 known silent c.3987 p.L1329 0.008 pfam_Methyltransf_12,pfam_Methyltransf_11 pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC FAT1 2195 genome.wustl.edu 37 4 187527350 187527350 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 187527350 187527350 G A SNP FAT1 ENST00000441802 human ensembl 70_37 -1 known silent c.10224 p.L3408 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT1 HGNC FBN3 84467 genome.wustl.edu 37 19 8182454 8182454 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 8182454 8182454 C T SNP FBN3 ENST00000270509 human ensembl 70_37 -1 known silent c.3357 p.L1119 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC FBXL4 26235 genome.wustl.edu 37 6 99365576 99365576 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 99365576 99365576 C G SNP FBXL4 ENST00000229971 human ensembl 70_37 -1 known missense c.532 p.E178Q 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL4 HGNC FBXO15 201456 genome.wustl.edu 37 18 71790643 71790643 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 71790643 71790643 G A SNP FBXO15 ENST00000419743 human ensembl 70_37 -1 known silent c.1098 p.F366 0.908 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO15 HGNC FBXO38 81545 genome.wustl.edu 37 5 147781924 147781924 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 147781924 147781924 C T SNP FBXO38 ENST00000340253 human ensembl 70_37 +1 known missense c.440 p.S147F 1.000 NULL superfamily_F-box_dom_cyclin-like - no_errors FBXO38 HGNC FBXO38 81545 genome.wustl.edu 37 5 147782040 147782040 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 147782040 147782040 C T SNP FBXO38 ENST00000340253 human ensembl 70_37 +1 known missense c.556 p.P186S 1.000 NULL superfamily_F-box_dom_cyclin-like - no_errors FBXO38 HGNC FBXO42 54455 genome.wustl.edu 37 1 16577630 16577630 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 16577630 16577630 G C SNP FBXO42 ENST00000375592 human ensembl 70_37 -1 known missense c.1689 p.I563M 1.000 NULL pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO42 HGNC FBXW2 26190 genome.wustl.edu 37 9 123555327 123555327 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 123555327 123555327 C T SNP FBXW2 ENST00000476481 human ensembl 70_37 -1 known rna NULL NULL 0.027 - - - no_errors FBXW2 HGNC FBXW5 54461 genome.wustl.edu 37 9 139838386 139838386 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 139838386 139838386 G A SNP FBXW5 ENST00000325285 human ensembl 70_37 -1 known silent c.150 p.F50 1.000 superfamily_F-box_dom_cyclin-like pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_Quinoprot_gluc/sorb_DH,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW5 HGNC FBXW7 55294 genome.wustl.edu 37 4 153247289 153247289 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 153247289 153247289 G C SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known missense c.1513 p.R505G 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC FDFT1 2222 genome.wustl.edu 37 8 11695907 11695907 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 11695907 11695907 G C SNP FDFT1 ENST00000220584 human ensembl 70_37 +1 known missense c.1043 p.R348T 0.168 superfamily_Terpenoid_synth,tigrfam_Squal_synth pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth,tigrfam_Squal_synth - no_errors FDFT1 HGNC FEM1B 10116 genome.wustl.edu 37 15 68582020 68582020 + Silent SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 68582020 68582020 C A SNP FEM1B ENST00000306917 human ensembl 70_37 +1 known silent c.324 p.V108 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 FEM1B HGNC FER1L6 654463 genome.wustl.edu 37 8 125035755 125035755 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 125035755 125035755 C T SNP FER1L6 ENST00000399018 human ensembl 70_37 +1 known silent c.2205 p.I735 0.009 pfam_Ferlin_B-domain pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors FER1L6 HGNC FER1L6-AS2 157376 genome.wustl.edu 37 8 125072540 125072540 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 125072540 125072540 C T SNP FER1L6-AS2 ENST00000520031 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FER1L6-AS2 HGNC FEZ2 9637 genome.wustl.edu 37 2 36805804 36805806 + In_Frame_Del DEL TTC TTC - TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 36805804 36805806 TTC - DEL FEZ2 ENST00000405912 human ensembl 70_37 -1 known in_frame_del c.839_837 p.K282in_frame_del 1.000:1.000:1.000 pfam_FEZ pfam_FEZ - no_errors FEZ2 HGNC FGA 2243 genome.wustl.edu 37 4 155505690 155505690 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 155505690 155505690 C G SNP FGA ENST00000302053 human ensembl 70_37 -1 known missense c.2187 p.E729D 1.000 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors FGA HGNC FGD1 2245 genome.wustl.edu 37 X 54497876 54497876 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 54497876 54497876 C T SNP FGD1 ENST00000375135 human ensembl 70_37 -1 known missense c.352 p.D118N 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD1 HGNC FGD6 55785 genome.wustl.edu 37 12 95604511 95604511 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 95604511 95604511 G C SNP FGD6 ENST00000343958 human ensembl 70_37 -1 known silent c.549 p.L183 0.909 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD6 HGNC FGF4 2249 genome.wustl.edu 37 11 69588887 69588887 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 69588887 69588887 C T SNP FGF4 ENST00000168712 human ensembl 70_37 -1 known missense c.349 p.E117K 1.000 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF4 HGNC FHAD1 114827 genome.wustl.edu 37 1 15701058 15701058 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 15701058 15701058 C T SNP FHAD1 ENST00000375999 human ensembl 70_37 +1 known nonsense c.3442 p.Q1148* 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors FHAD1 HGNC FKBP10 60681 genome.wustl.edu 37 17 39973375 39973375 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 39973375 39973375 G A SNP FKBP10 ENST00000321562 human ensembl 70_37 +1 known missense c.311 p.R104Q 0.999 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom - no_errors FKBP10 HGNC FLJ22184 80164 genome.wustl.edu 37 19 7935874 7935874 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 7935874 7935874 C T SNP FLJ22184 ENST00000539422 human ensembl 70_37 -1 known silent c.2256 p.L752 0.340 NULL NULL - no_errors FLJ22184 Uniprot_genename FLJ22184 80164 genome.wustl.edu 37 19 7935943 7935943 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 7935943 7935943 C T SNP FLJ22184 ENST00000539422 human ensembl 70_37 -1 known silent c.2187 p.L729 0.002 NULL NULL - no_errors FLJ22184 Uniprot_genename FLJ35390 0 genome.wustl.edu 37 7 44079130 44079130 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 44079130 44079130 C T SNP FLJ35390 ENST00000441052 human ensembl 70_37 +1 known rna NULL NULL 0.993 - - - no_errors AC017116.8 Clone_based_vega_gene FLNA 2316 genome.wustl.edu 37 X 153590069 153590069 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 153590069 153590069 G A SNP FLNA ENST00000369850 human ensembl 70_37 -1 known silent c.2913 p.L971 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC FLNB 2317 genome.wustl.edu 37 3 58098016 58098016 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 58098016 58098016 C T SNP FLNB ENST00000295956 human ensembl 70_37 +1 known missense c.2716 p.H906Y 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC FLNC 2318 genome.wustl.edu 37 7 128490064 128490064 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 128490064 128490064 C G SNP FLNC ENST00000325888 human ensembl 70_37 +1 known missense c.5234 p.S1745C 0.025 NULL 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 FLOT2 2319 genome.wustl.edu 37 17 27211323 27211323 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 27211323 27211323 C G SNP FLOT2 ENST00000394908 human ensembl 70_37 -1 known missense c.142 p.E48Q 1.000 pfam_Band_7 pfam_Band_7,smart_Band_7 - no_errors FLOT2 HGNC FLRT2 23768 genome.wustl.edu 37 14 86092301 86092301 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 86092301 86092301 C T SNP FLRT2 ENST00000553650 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors FLRT2 HGNC FLT3 2322 genome.wustl.edu 37 13 28631600 28631600 + Splice_Site SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 28631600 28631600 C T SNP FLT3 ENST00000380982 human ensembl 70_37 -1 known splice_site c.369-1 e4-1 1.000 - - - no_errors FLT3 HGNC FMN2 56776 genome.wustl.edu 37 1 240256491 240256491 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 240256491 240256491 C T SNP FMN2 ENST00000319653 human ensembl 70_37 +1 known missense c.1082 p.S361F 0.930 NULL pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC FMNL3 91010 genome.wustl.edu 37 12 50059693 50059693 + Splice_Site SNP T T G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 50059693 50059693 T G SNP FMNL3 ENST00000293590 human ensembl 70_37 -1 known splice_site c.292-2 e4-2 1.000 - - - no_errors FMNL3 HGNC FMO1 2326 genome.wustl.edu 37 1 171244493 171244493 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 171244493 171244493 C G SNP FMO1 ENST00000354841 human ensembl 70_37 +1 known silent c.330 p.V110 0.998 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_2 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_1,prints_Flavin_mOase_2 - no_errors FMO1 HGNC FMO5 2330 genome.wustl.edu 37 1 146658596 146658596 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 146658596 146658596 G C SNP FMO5 ENST00000254090 human ensembl 70_37 -1 known missense c.1485 p.I495M 0.950 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1 - no_errors FMO5 HGNC FMR1 2332 genome.wustl.edu 37 X 147014007 147014007 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 147014007 147014007 C G SNP FMR1 ENST00000370475 human ensembl 70_37 +1 known missense c.694 p.L232V 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FMR1 HGNC FN1 2335 genome.wustl.edu 37 2 216242904 216242904 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 216242904 216242904 G C SNP FN1 ENST00000354785 human ensembl 70_37 -1 known missense c.5704 p.L1902V 0.924 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC FNBP1 23048 genome.wustl.edu 37 9 132665165 132665165 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 132665165 132665165 C G SNP FNBP1 ENST00000372416 human ensembl 70_37 -1 known missense c.1411 p.E471Q 0.999 superfamily_HR1_rho-bd pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Ribosomal_S20,superfamily_HR1_rho-bd,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain - no_errors FNBP1 HGNC FOCAD 54914 genome.wustl.edu 37 9 20764941 20764941 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 20764941 20764941 G T SNP FOCAD ENST00000338382 human ensembl 70_37 +1 known nonsense c.568 p.E190* 1.000 pfam_DUF3730,superfamily_ARM-type_fold pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC FOXO4 4303 genome.wustl.edu 37 X 70316571 70316571 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 70316571 70316571 G A SNP FOXO4 ENST00000374259 human ensembl 70_37 +1 known missense c.193 p.E65K 0.041 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO4 HGNC FOXR2 139628 genome.wustl.edu 37 X 55650925 55650925 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 55650925 55650925 G A SNP FOXR2 ENST00000339140 human ensembl 70_37 +1 known missense c.781 p.D261N 0.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXR2 HGNC FPGT 8790 genome.wustl.edu 37 1 74670707 74670707 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 74670707 74670707 G C SNP FPGT ENST00000370898 human ensembl 70_37 +1 known missense c.976 p.E326Q 1.000 pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase - no_errors FPGT HGNC FRA10AC1 118924 genome.wustl.edu 37 10 95458071 95458071 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 95458071 95458071 C G SNP FRA10AC1 ENST00000359204 human ensembl 70_37 -1 known missense c.160 p.E54Q 1.000 NULL pfam_Folate-sensitive_fs_Fra10Ac1 - no_errors FRA10AC1 HGNC FRY 10129 genome.wustl.edu 37 13 32863860 32863860 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 32863860 32863860 G A SNP FRY ENST00000380250 human ensembl 70_37 +1 known missense c.8560 p.E2854K 1.000 NULL superfamily_ARM-type_fold - no_errors FRY HGNC FRZB 2487 genome.wustl.edu 37 2 183731215 183731215 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 183731215 183731215 G C SNP FRZB ENST00000295113 human ensembl 70_37 -1 known silent c.66 p.L22 0.978 NULL pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors FRZB HGNC FSD1L 83856 genome.wustl.edu 37 9 108270984 108270984 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 108270984 108270984 C G SNP FSD1L ENST00000539376 human ensembl 70_37 +1 known missense c.412 p.L138V 0.994 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SPRY_rcpt,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin - no_errors FSD1L HGNC FTSJ3 117246 genome.wustl.edu 37 17 61904804 61904804 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 61904804 61904804 C T SNP FTSJ3 ENST00000580295 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors FTSJ3 HGNC FUCA2 2519 genome.wustl.edu 37 6 143816982 143816982 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 143816982 143816982 C T SNP FUCA2 ENST00000002165 human ensembl 70_37 -1 known silent c.1266 p.V422 0.990 pirsf_Glyco_hydro_29_sub pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub - no_errors FUCA2 HGNC FYCO1 79443 genome.wustl.edu 37 3 46008989 46008989 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 46008989 46008989 C T SNP FYCO1 ENST00000535325 human ensembl 70_37 -1 known missense c.1837 p.E613K 0.003 NULL pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC GABRQ 55879 genome.wustl.edu 37 X 151818973 151818973 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 151818973 151818973 C T SNP GABRQ ENST00000370306 human ensembl 70_37 +1 known silent c.831 p.V277 0.999 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAt_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABAAb_rcpt,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRQ HGNC GANAB 23193 genome.wustl.edu 37 11 62400673 62400673 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 62400673 62400673 G A SNP GANAB ENST00000346178 human ensembl 70_37 -1 known missense c.767 p.S256F 0.665 superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd - no_errors GANAB HGNC GARNL3 84253 genome.wustl.edu 37 9 130117612 130117612 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 130117612 130117612 G C SNP GARNL3 ENST00000373387 human ensembl 70_37 +1 known missense c.1796 p.R599T 0.951 pfam_Citron,smart_Citron pfam_Citron,pfam_Rap_GAP,smart_Citron,pfscan_Rap_GAP - no_errors GARNL3 HGNC GCM2 9247 genome.wustl.edu 37 6 10876194 10876194 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 10876194 10876194 C T SNP GCM2 ENST00000379491 human ensembl 70_37 -1 known missense c.512 p.R171K 1.000 pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM2 HGNC GDA 9615 genome.wustl.edu 37 9 74810440 74810440 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 74810440 74810440 C G SNP GDA ENST00000238018 human ensembl 70_37 +1 known missense c.148 p.Q50E 1.000 tigrfam_Guanine_deaminase pfam_Amidohydro_1,tigrfam_Guanine_deaminase - no_errors GDA HGNC GDF11 10220 genome.wustl.edu 37 12 56137352 56137352 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 56137352 56137352 G C SNP GDF11 ENST00000257868 human ensembl 70_37 +1 known missense c.252 p.L84F 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors GDF11 HGNC GIPR 2696 genome.wustl.edu 37 19 46177987 46177987 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 46177987 46177987 C G SNP GIPR ENST00000590918 human ensembl 70_37 +1 known missense c.536 p.S179C 1.000 pfam_GPCR_2_secretin-like,prints_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,prints_GPCR_2_secretin-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors GIPR HGNC GJA10 84694 genome.wustl.edu 37 6 90605031 90605031 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 90605031 90605031 C G SNP GJA10 ENST00000369352 human ensembl 70_37 +1 known missense c.844 p.P282A 0.035 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJA10 HGNC GLRB 2743 genome.wustl.edu 37 4 158073953 158073953 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 158073953 158073953 G A SNP GLRB ENST00000264428 human ensembl 70_37 +1 known missense c.988 p.D330N 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRB HGNC COLGALT1 79709 genome.wustl.edu 37 19 17678321 17678321 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 17678321 17678321 C G SNP GLT25D1 ENST00000252599 human ensembl 70_37 +1 known missense c.596 p.S199C 1.000 NULL pfam_Glyco_trans_25 - no_errors GLT25D1 HGNC COLGALT2 23127 genome.wustl.edu 37 1 183938564 183938564 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 183938564 183938564 C T SNP GLT25D2 ENST00000361927 human ensembl 70_37 -1 known nonsense c.671 p.W224* 1.000 NULL pfam_Glyco_trans_25 - no_errors GLT25D2 HGNC GLT8D2 83468 genome.wustl.edu 37 12 104391268 104391268 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 104391268 104391268 C T SNP GLT8D2 ENST00000360814 human ensembl 70_37 -1 known missense c.448 p.E150K 0.996 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GLT8D2 HGNC GLUD2 2747 genome.wustl.edu 37 X 120182171 120182171 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 120182171 120182171 G A SNP GLUD2 ENST00000328078 human ensembl 70_37 +1 known silent c.633 p.K211 1.000 pfam_Glu/Leu/Phe/Val_DH_dimer_dom pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD2 HGNC GOLGA2P5 55592 genome.wustl.edu 37 12 100560379 100560379 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 100560379 100560379 C T SNP GOLGA2P5 ENST00000421840 human ensembl 70_37 -1 known rna NULL NULL 0.033 - - - no_errors GOLGA2B Clone_based_vega_gene GOLGA6L1 283767 genome.wustl.edu 37 15 22743378 22743378 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 22743378 22743378 G A SNP GOLGA6L1 ENST00000316397 human ensembl 70_37 +1 known missense c.1763 p.R588Q 0.415 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors GOLGA6L1 HGNC GOLGA6L7P 728310 genome.wustl.edu 37 15 29090373 29090373 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 29090373 29090373 C T SNP GOLGA6L7P ENST00000569815 human ensembl 70_37 -1 putative rna NULL NULL 0.002 - - - no_errors GOLGA6L7P HGNC GOLGA8A 23015 genome.wustl.edu 37 15 34679062 34679062 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 34679062 34679062 C T SNP GOLGA8A ENST00000432566 human ensembl 70_37 -1 known missense c.139 p.D47N 0.103 NULL NULL - no_errors GOLGA8A HGNC GOLGA8DP 100132979 genome.wustl.edu 37 15 22709126 22709126 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 22709126 22709126 G C SNP GOLGA8DP ENST00000314246 human ensembl 70_37 -1 known rna NULL NULL 0.301 - - - no_errors GOLGA8DP HGNC GOLGB1 2804 genome.wustl.edu 37 3 121410101 121410101 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 121410101 121410101 C T SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.8095 p.E2699K 0.999 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC GOSR2 9570 genome.wustl.edu 37 17 45102045 45102045 + Splice_Site SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 45102045 45102045 G A SNP GOSR2 ENST00000439730 human ensembl 70_37 +1 known splice_site c.677-1 e8-1 1.000 - - - no_errors GOSR2 HGNC GP2 2813 genome.wustl.edu 37 16 20334257 20334257 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 20334257 20334257 C T SNP GP2 ENST00000381362 human ensembl 70_37 -1 known missense c.589 p.E197K 0.018 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors GP2 HGNC GPAM 57678 genome.wustl.edu 37 10 113915685 113915685 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 113915685 113915685 C T SNP GPAM ENST00000348367 human ensembl 70_37 -1 known missense c.2248 p.E750K 0.996 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors GPAM HGNC GPATCH8 23131 genome.wustl.edu 37 17 42477649 42477649 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 42477649 42477649 G C SNP GPATCH8 ENST00000591680 human ensembl 70_37 -1 known nonsense c.1796 p.S599* 0.110 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC GPATCH8 23131 genome.wustl.edu 37 17 42478741 42478741 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 42478741 42478741 G C SNP GPATCH8 ENST00000591680 human ensembl 70_37 -1 known nonsense c.704 p.S235* 0.936 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC GPR111 222611 genome.wustl.edu 37 6 47645599 47645599 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 47645599 47645599 G A SNP GPR111 ENST00000296862 human ensembl 70_37 +1 known silent c.297 p.E99 0.913 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR111 HGNC GPR112 139378 genome.wustl.edu 37 X 135488008 135488008 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 135488008 135488008 G A SNP GPR112 ENST00000370652 human ensembl 70_37 +1 known missense c.8812 p.D2938N 0.999 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC GPR133 283383 genome.wustl.edu 37 12 131476909 131476909 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 131476909 131476909 C G SNP GPR133 ENST00000261654 human ensembl 70_37 +1 known missense c.938 p.S313W 0.905 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR133 HGNC GPR161 23432 genome.wustl.edu 37 1 168066279 168066279 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 168066279 168066279 G A SNP GPR161 ENST00000537209 human ensembl 70_37 -1 known missense c.626 p.T209M 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR161 HGNC GPR162 27239 genome.wustl.edu 37 12 6933901 6933901 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 6933901 6933901 C G SNP GPR162 ENST00000311268 human ensembl 70_37 +1 known silent c.837 p.L279 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153/162 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_162,prints_GPCR_153/162 - no_errors GPR162 HGNC GPR31 2853 genome.wustl.edu 37 6 167570453 167570453 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 167570453 167570453 G A SNP GPR31 ENST00000366834 human ensembl 70_37 -1 known silent c.867 p.F289 0.211 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR31 HGNC GPRIN2 9721 genome.wustl.edu 37 10 46998893 46998893 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 46998893 46998893 C T SNP GPRIN2 ENST00000374314 human ensembl 70_37 +1 known missense c.13 p.R5C 0.726 NULL NULL - no_errors GPRIN2 HGNC GPS1 2873 genome.wustl.edu 37 17 80014758 80014758 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 80014758 80014758 G C SNP GPS1 ENST00000355130 human ensembl 70_37 +1 known missense c.1417 p.E473Q 1.000 smart_PCI_dom pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom - no_errors GPS1 HGNC GRIA1 2890 genome.wustl.edu 37 5 153181983 153181983 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 153181983 153181983 G T SNP GRIA1 ENST00000448073 human ensembl 70_37 +1 known missense c.2483 p.G828V 1.000 prints_NMDA_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 GRIA1 HGNC GRID1 2894 genome.wustl.edu 37 10 87898651 87898651 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 87898651 87898651 C G SNP GRID1 ENST00000327946 human ensembl 70_37 -1 known silent c.651 p.L217 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_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 GRID1 HGNC GRIN3A 116443 genome.wustl.edu 37 9 104499576 104499576 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 104499576 104499576 G A SNP GRIN3A ENST00000361820 human ensembl 70_37 -1 known missense c.686 p.P229L 1.000 NULL pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC GRK1 6011 genome.wustl.edu 37 13 114325968 114325968 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 114325968 114325968 G A SNP GRK1 ENST00000335678 human ensembl 70_37 +1 known missense c.982 p.D328N 0.986 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors GRK1 HGNC GRM2 2912 genome.wustl.edu 37 3 51751678 51751678 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 51751678 51751678 C T SNP GRM2 ENST00000395052 human ensembl 70_37 +1 known missense c.2390 p.S797L 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC GRN 2896 genome.wustl.edu 37 17 42426636 42426636 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 42426636 42426636 G A SNP GRN ENST00000053867 human ensembl 70_37 +1 known missense c.104 p.G35E 0.888 NULL pfam_Granulin,smart_Granulin - no_errors GRN HGNC GRSF1 2926 genome.wustl.edu 37 4 71697314 71697314 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 71697314 71697314 C T SNP GRSF1 ENST00000254799 human ensembl 70_37 -1 known missense c.892 p.E298K 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors GRSF1 HGNC GSN 2934 genome.wustl.edu 37 9 124073024 124073024 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 124073024 124073024 C G SNP GSN ENST00000373818 human ensembl 70_37 +1 known silent c.567 p.L189 1.000 smart_Gelsolin pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin - no_errors GSN HGNC GSTM2 2946 genome.wustl.edu 37 1 110213924 110213924 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 110213924 110213924 G A SNP GSTM2 ENST00000241337 human ensembl 70_37 +1 known missense c.376 p.E126K 0.205 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_mu - no_errors GSTM2 HGNC GTF2A1 2957 genome.wustl.edu 37 14 81659136 81659136 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 81659136 81659136 G A SNP GTF2A1 ENST00000553612 human ensembl 70_37 -1 known silent c.660 p.I220 1.000 pfam_TFIIA_asu/bsu pfam_TFIIA_asu/bsu,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx - no_errors GTF2A1 HGNC GTF2A1 2957 genome.wustl.edu 37 14 81670289 81670289 + Nonsense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 81670289 81670289 G A SNP GTF2A1 ENST00000553612 human ensembl 70_37 -1 known nonsense c.292 p.Q98* 1.000 pfam_TFIIA_asu/bsu pfam_TFIIA_asu/bsu,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx - no_errors GTF2A1 HGNC GTF3A 2971 genome.wustl.edu 37 13 27999140 27999140 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 27999140 27999140 C T SNP GTF3A ENST00000438571 human ensembl 70_37 +1 known missense c.266 p.A89V 0.000 NULL pfscan_Znf_C2H2 - no_errors GTF3A HGNC GTF3C1 2975 genome.wustl.edu 37 16 27475971 27475971 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 27475971 27475971 C T SNP GTF3C1 ENST00000356183 human ensembl 70_37 -1 known missense c.5542 p.E1848K 0.012 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC GTF3C2 2976 genome.wustl.edu 37 2 27551770 27551770 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 27551770 27551770 C G SNP GTF3C2 ENST00000264720 human ensembl 70_37 -1 known missense c.2068 p.D690H 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GTF3C2 HGNC GTF3C4 9329 genome.wustl.edu 37 9 135553529 135553529 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 135553529 135553529 G A SNP GTF3C4 ENST00000372146 human ensembl 70_37 +1 known missense c.523 p.D175N 1.000 NULL superfamily_WD40_repeat_dom - no_errors GTF3C4 HGNC GTSF1 121355 genome.wustl.edu 37 12 54858833 54858833 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 54858833 54858833 G C SNP GTSF1 ENST00000548538 human ensembl 70_37 -1 known rna NULL NULL 0.009 - - - no_errors GTSF1 HGNC GUCY1A2 2977 genome.wustl.edu 37 11 106810318 106810318 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 106810318 106810318 G A SNP GUCY1A2 ENST00000282249 human ensembl 70_37 -1 known silent c.1074 p.L358 1.000 pfam_Haem_no_assoc-bd pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A2 HGNC GUCY2D 3000 genome.wustl.edu 37 17 7917302 7917302 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 7917302 7917302 G C SNP GUCY2D ENST00000254854 human ensembl 70_37 +1 known missense c.2368 p.E790Q 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors GUCY2D HGNC GYS1 2997 genome.wustl.edu 37 19 49481228 49481228 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 49481228 49481228 C G SNP GYS1 ENST00000323798 human ensembl 70_37 -1 known missense c.1261 p.D421H 1.000 pfam_Glycogen_synth pfam_Glycogen_synth,pfam_Glyco_trans_1,pfam_Starch_synth_cat_dom - no_errors GYS1 HGNC HDGF 3068 genome.wustl.edu 37 1 156721268 156721268 + RNA SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 156721268 156721268 G T SNP HDGF ENST00000469145 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors HDGF HGNC HDHD1 8226 genome.wustl.edu 37 X 6995411 6995411 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 6995411 6995411 G A SNP HDHD1 ENST00000424830 human ensembl 70_37 -1 known silent c.429 p.F143 0.623 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_v3 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_v3 - no_errors HDHD1 HGNC HEATR1 55127 genome.wustl.edu 37 1 236746396 236746396 + Missense_Mutation SNP A A T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 236746396 236746396 A T SNP HEATR1 ENST00000366582 human ensembl 70_37 -1 known missense c.2342 p.V781E 0.005 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC HEATR1 55127 genome.wustl.edu 37 1 236755358 236755358 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 236755358 236755358 C A SNP HEATR1 ENST00000366582 human ensembl 70_37 -1 known missense c.1357 p.D453Y 0.108 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC HEATR4 399671 genome.wustl.edu 37 14 73969681 73969681 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 73969681 73969681 C T SNP HEATR4 ENST00000334988 human ensembl 70_37 -1 known missense c.2023 p.D675N 0.998 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC HECTD1 25831 genome.wustl.edu 37 14 31598191 31598191 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 31598191 31598191 C T SNP HECTD1 ENST00000399332 human ensembl 70_37 -1 known silent c.4386 p.R1462 1.000 NULL pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC HECTD2 143279 genome.wustl.edu 37 10 93261075 93261075 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 93261075 93261075 G A SNP HECTD2 ENST00000446394 human ensembl 70_37 +1 known missense c.2206 p.E736K 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT - no_errors HECTD2 HGNC HECTD3 79654 genome.wustl.edu 37 1 45469601 45469601 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 45469601 45469601 C T SNP HECTD3 ENST00000372172 human ensembl 70_37 -1 known silent c.2355 p.R785 0.999 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT - no_errors HECTD3 HGNC HECTD3 79654 genome.wustl.edu 37 1 45469798 45469798 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 45469798 45469798 C G SNP HECTD3 ENST00000372172 human ensembl 70_37 -1 known missense c.2281 p.E761Q 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT - no_errors HECTD3 HGNC HECTD3 79654 genome.wustl.edu 37 1 45469950 45469950 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 45469950 45469950 C G SNP HECTD3 ENST00000372172 human ensembl 70_37 -1 known missense c.2242 p.E748Q 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT - no_errors HECTD3 HGNC HECTD3 79654 genome.wustl.edu 37 1 45470392 45470392 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 45470392 45470392 C T SNP HECTD3 ENST00000372172 human ensembl 70_37 -1 known silent c.2022 p.L674 0.999 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT - no_errors HECTD3 HGNC HECTD3 79654 genome.wustl.edu 37 1 45470457 45470457 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 45470457 45470457 C G SNP HECTD3 ENST00000372172 human ensembl 70_37 -1 known missense c.1957 p.E653Q 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT - no_errors HECTD3 HGNC HELQ 113510 genome.wustl.edu 37 4 84350794 84350794 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 84350794 84350794 C T SNP HELQ ENST00000295488 human ensembl 70_37 -1 known missense c.2401 p.E801K 0.319 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELQ HGNC HEMK1 51409 genome.wustl.edu 37 3 50614558 50614558 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 50614558 50614558 C G SNP HEMK1 ENST00000232854 human ensembl 70_37 +1 known missense c.490 p.L164V 1.000 pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,tigrfam_Release_fac_Glu-N5_MeTfrase,tigrfam_Modification_methylase_HemK pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,prints_D21N6_MeTrfase,tigrfam_Release_fac_Glu-N5_MeTfrase,tigrfam_Modification_methylase_HemK - no_errors HEMK1 HGNC HERC2P2 400322 genome.wustl.edu 37 15 23326292 23326292 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 23326292 23326292 C G SNP HERC2P2 ENST00000560464 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P2 HGNC HERC5 51191 genome.wustl.edu 37 4 89425707 89425707 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 89425707 89425707 C G SNP HERC5 ENST00000264350 human ensembl 70_37 +1 known missense c.2828 p.A943G 0.989 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC5 HGNC HERPUD2 64224 genome.wustl.edu 37 7 35674821 35674821 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 35674821 35674821 G A SNP HERPUD2 ENST00000311350 human ensembl 70_37 -1 known missense c.865 p.L289F 1.000 NULL pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors HERPUD2 HGNC HEXIM1 10614 genome.wustl.edu 37 17 43226681 43226681 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 43226681 43226681 G C SNP HEXIM1 ENST00000332499 human ensembl 70_37 +1 known missense c.124 p.E42Q 0.984 NULL NULL - no_errors HEXIM1 HGNC HFM1 164045 genome.wustl.edu 37 1 91851329 91851329 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 91851329 91851329 G A SNP HFM1 ENST00000370425 human ensembl 70_37 -1 known missense c.557 p.S186F 0.004 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC HGF 3082 genome.wustl.edu 37 7 81392151 81392151 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 81392151 81392151 G T SNP HGF ENST00000222390 human ensembl 70_37 -1 known missense c.126 p.F42L 0.998 smart_Pan_app,pfscan_Pan_app pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HGF HGNC HGS 9146 genome.wustl.edu 37 17 79660922 79660922 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 79660922 79660922 C T SNP HGS ENST00000329138 human ensembl 70_37 +1 known missense c.863 p.S288L 0.332 pirsf_Ubi-bd_Hrs_VPS27 pfam_VHS,pfam_HRS_helical,pfam_Znf_FYVE,superfamily_ENTH_VHS,superfamily_Znf_FYVE_PHD,smart_VHS_subgr,smart_Znf_FYVE,pirsf_Ubi-bd_Hrs_VPS27,pfscan_Ubiquitin-int_motif,pfscan_VHS,pfscan_Znf_FYVE-rel - no_errors HGS HGNC HGS 9146 genome.wustl.edu 37 17 79660949 79660949 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 79660949 79660949 C T SNP HGS ENST00000329138 human ensembl 70_37 +1 known missense c.890 p.S297L 0.967 pirsf_Ubi-bd_Hrs_VPS27 pfam_VHS,pfam_HRS_helical,pfam_Znf_FYVE,superfamily_ENTH_VHS,superfamily_Znf_FYVE_PHD,smart_VHS_subgr,smart_Znf_FYVE,pirsf_Ubi-bd_Hrs_VPS27,pfscan_Ubiquitin-int_motif,pfscan_VHS,pfscan_Znf_FYVE-rel - no_errors HGS HGNC HIBCH 26275 genome.wustl.edu 37 2 191114420 191114420 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 191114420 191114420 C G SNP HIBCH ENST00000359678 human ensembl 70_37 -1 known missense c.696 p.L232F 1.000 NULL pfam_Crotonase_core - no_errors HIBCH HGNC HIST1H1E 3008 genome.wustl.edu 37 6 26156742 26156742 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 26156742 26156742 G C SNP HIST1H1E ENST00000304218 human ensembl 70_37 +1 known missense c.124 p.E42Q 1.000 pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1E HGNC HIST1H2AB 8335 genome.wustl.edu 37 6 26033628 26033628 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 26033628 26033628 C G SNP HIST1H2AB ENST00000259791 human ensembl 70_37 -1 known missense c.169 p.E57Q 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AB HGNC HIVEP1 3096 genome.wustl.edu 37 6 12089440 12089440 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 12089440 12089440 G C SNP HIVEP1 ENST00000379388 human ensembl 70_37 +1 known missense c.64 p.E22Q 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC HIVEP2 3097 genome.wustl.edu 37 6 143074992 143074992 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 143074992 143074992 C T SNP HIVEP2 ENST00000012134 human ensembl 70_37 -1 known missense c.6593 p.G2198D 0.967 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC HLA-C 3107 genome.wustl.edu 37 6 31238874 31238874 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 31238874 31238874 C T SNP HLA-C ENST00000539307 human ensembl 70_37 -1 known missense c.706 p.G236R 0.962 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2 pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-C HGNC HLA-DQA2 3118 genome.wustl.edu 37 6 32713837 32713837 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 32713837 32713837 C T SNP HLA-DQA2 ENST00000374940 human ensembl 70_37 +1 known silent c.601 p.L201 0.477 NULL pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DQA2 HGNC HLA-DRB5 3127 genome.wustl.edu 37 6 32487169 32487169 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 32487169 32487169 C T SNP HLA-DRB5 ENST00000374975 human ensembl 70_37 -1 known silent c.630 p.T210 0.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DRB5 HGNC HLTF 6596 genome.wustl.edu 37 3 148756954 148756954 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 148756954 148756954 G C SNP HLTF ENST00000310053 human ensembl 70_37 -1 known nonsense c.2678 p.S893* 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_HIP116_Rad5p_N,pfam_Helicase_C,smart_HIP116_Rad5p_N,smart_Helicase_ATP-bd,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HLTF HGNC HMGCLL1 54511 genome.wustl.edu 37 6 55443818 55443818 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 55443818 55443818 G A SNP HMGCLL1 ENST00000398661 human ensembl 70_37 -1 known silent c.36 p.L12 0.999 NULL pfam_PYR_CT,pfscan_PYR_CT - no_errors HMGCLL1 HGNC HMGN2 3151 genome.wustl.edu 37 1 26801737 26801738 + RNA INS - - T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 26801737 26801738 - T INS HMGN2 ENST00000460563 human ensembl 70_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors HMGN2 HGNC HNRNPA1 3178 genome.wustl.edu 37 12 54674604 54674604 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 54674604 54674604 G A SNP HNRNPA1 ENST00000340913 human ensembl 70_37 +1 known missense c.13 p.E5K 0.991 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA1 HGNC HNRNPA1 3178 genome.wustl.edu 37 12 54674604 54674604 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 54674604 54674604 G C SNP HNRNPA1 ENST00000340913 human ensembl 70_37 +1 known missense c.13 p.E5Q 0.991 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA1 HGNC HOOK3 84376 genome.wustl.edu 37 8 42780704 42780704 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 42780704 42780704 C A SNP HOOK3 ENST00000307602 human ensembl 70_37 +1 known missense c.148 p.P50T 1.000 pfam_HOOK pfam_HOOK,superfamily_t-SNARE - no_errors HOOK3 HGNC HOXB4 3214 genome.wustl.edu 37 17 46655232 46655232 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 46655232 46655232 C T SNP HOXB4 ENST00000332503 human ensembl 70_37 -1 known silent c.450 p.V150 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB4 HGNC HOXC8 3224 genome.wustl.edu 37 12 54404916 54404916 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 54404916 54404916 G A SNP HOXC8 ENST00000040584 human ensembl 70_37 +1 known silent c.480 p.Q160 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_HTH_motif - no_errors HOXC8 HGNC HPCAL4 51440 genome.wustl.edu 37 1 40149662 40149662 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 40149662 40149662 C T SNP HPCAL4 ENST00000372844 human ensembl 70_37 -1 known missense c.325 p.D109N 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors HPCAL4 HGNC HPGDS 27306 genome.wustl.edu 37 4 95255735 95255735 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 95255735 95255735 C T SNP HPGDS ENST00000295256 human ensembl 70_37 -1 known missense c.46 p.E16K 1.000 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors HPGDS HGNC HRG 3273 genome.wustl.edu 37 3 186395416 186395416 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 186395416 186395416 G A SNP HRG ENST00000232003 human ensembl 70_37 +1 known missense c.1322 p.R441Q 0.017 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors HRG HGNC HRH4 59340 genome.wustl.edu 37 18 22056884 22056884 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 22056884 22056884 C T SNP HRH4 ENST00000256906 human ensembl 70_37 +1 known silent c.531 p.I177 0.229 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Histamine_H4_recept,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors HRH4 HGNC HRNR 388697 genome.wustl.edu 37 1 152188560 152188560 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 152188560 152188560 C T SNP HRNR ENST00000368801 human ensembl 70_37 -1 known missense c.5545 p.G1849R 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC HSD17B11 51170 genome.wustl.edu 37 4 88258406 88258406 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 88258406 88258406 C T SNP HSD17B11 ENST00000502576 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors HSD17B11 HGNC HSD17B14 51171 genome.wustl.edu 37 19 49316448 49316448 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 49316448 49316448 G C SNP HSD17B14 ENST00000263278 human ensembl 70_37 -1 known missense c.797 p.P266R 0.777 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B14 HGNC HSDL2 84263 genome.wustl.edu 37 9 115232804 115232804 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 115232804 115232804 C G SNP HSDL2 ENST00000398805 human ensembl 70_37 +1 known missense c.1237 p.Q413E 0.999 superfamily_SCP2_sterol-bd_dom pfam_SCP2_sterol-bd_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,prints_Glc/ribitol_DH - no_errors HSDL2 HGNC HSP90AB1 3326 genome.wustl.edu 37 6 44216453 44216453 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 44216453 44216453 C G SNP HSP90AB1 ENST00000353801 human ensembl 70_37 +1 known missense c.87 p.I29M 1.000 superfamily_ATPase-like_ATP-bd,pirsf_Hsp90,prints_Hsp90_N pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pirsf_Hsp90,prints_Hsp90_N - no_errors HSP90AB1 HGNC HSPA6 3310 genome.wustl.edu 37 1 161495957 161495957 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 161495957 161495957 C T SNP HSPA6 ENST00000309758 human ensembl 70_37 +1 known silent c.1509 p.I503 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA6 HGNC HSPA9 3313 genome.wustl.edu 37 5 137903344 137903344 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 137903344 137903344 C T SNP HSPA9 ENST00000297185 human ensembl 70_37 -1 known silent c.603 p.Q201 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam,tigrfam_Chaperone_DnaK pfam_Hsp_70_fam,pfam_MreB_Mrl,pfam_Carb_kinase_FGGY_C,prints_Hsp_70_fam,tigrfam_Chaperone_DnaK - no_errors HSPA9 HGNC HTR2C 3358 genome.wustl.edu 37 X 114141786 114141786 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 114141786 114141786 C G SNP HTR2C ENST00000276198 human ensembl 70_37 +1 known silent c.1185 p.V395 0.000 prints_5HT2C_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2C_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2C HGNC HUWE1 10075 genome.wustl.edu 37 X 53644394 53644394 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 53644394 53644394 C T SNP HUWE1 ENST00000262854 human ensembl 70_37 -1 known silent c.1686 p.V562 1.000 pfam_E3_Ub_ligase_DUF913,superfamily_ARM-type_fold pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC HYAL2 8692 genome.wustl.edu 37 3 50357191 50357191 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 50357191 50357191 C T SNP HYAL2 ENST00000357750 human ensembl 70_37 -1 known missense c.730 p.E244K 0.996 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL2 HGNC HYDIN 54768 genome.wustl.edu 37 16 71004492 71004492 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 71004492 71004492 C T SNP HYDIN ENST00000316490 human ensembl 70_37 -1 known silent c.5547 p.K1849 1.000 NULL superfamily_PapD-like - no_errors HYDIN HGNC IDH3G 3421 genome.wustl.edu 37 X 153051683 153051683 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 153051683 153051683 G A SNP IDH3G ENST00000217901 human ensembl 70_37 -1 known missense c.1064 p.S355F 1.000 pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD - no_errors IDH3G HGNC IFT172 26160 genome.wustl.edu 37 2 27679448 27679448 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 27679448 27679448 C T SNP IFT172 ENST00000260570 human ensembl 70_37 -1 known missense c.3301 p.E1101K 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC IGDCC3 9543 genome.wustl.edu 37 15 65621808 65621808 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 65621808 65621808 C T SNP IGDCC3 ENST00000327987 human ensembl 70_37 -1 known missense c.2125 p.E709K 0.789 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGDCC3 HGNC IGF1R 3480 genome.wustl.edu 37 15 99472812 99472812 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 99472812 99472812 G A SNP IGF1R ENST00000268035 human ensembl 70_37 +1 known silent c.2808 p.L936 0.880 pirsf_Tyr_kinase_insulin-like_rcpt pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors IGF1R HGNC IGF2R 3482 genome.wustl.edu 37 6 160466886 160466886 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 160466886 160466886 G C SNP IGF2R ENST00000356956 human ensembl 70_37 +1 known missense c.1875 p.E625D 0.667 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC IGFL1 374918 genome.wustl.edu 37 19 46733399 46733399 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 46733399 46733399 C T SNP IGFL1 ENST00000437936 human ensembl 70_37 +1 known silent c.60 p.L20 0.005 NULL NULL - no_errors IGFL1 HGNC IGFN1 91156 genome.wustl.edu 37 1 201175672 201175672 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 201175672 201175672 G A SNP IGFN1 ENST00000335211 human ensembl 70_37 +1 known missense c.1651 p.E551K 0.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGFN1 HGNC IGSF1 3547 genome.wustl.edu 37 X 130409550 130409550 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 130409550 130409550 G C SNP IGSF1 ENST00000370903 human ensembl 70_37 -1 known missense c.3101 p.S1034C 0.949 smart_Ig_sub,smart_Ig_sub2 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors IGSF1 HGNC IKBIP 121457 genome.wustl.edu 37 12 99019962 99019962 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 99019962 99019962 C T SNP IKBIP ENST00000299157 human ensembl 70_37 -1 known missense c.880 p.E294K 1.000 NULL NULL - no_errors IKBIP HGNC IKBIP 121457 genome.wustl.edu 37 12 99019972 99019972 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 99019972 99019972 C T SNP IKBIP ENST00000299157 human ensembl 70_37 -1 known silent c.870 p.L290 0.995 NULL NULL - no_errors IKBIP HGNC IKBIP 121457 genome.wustl.edu 37 12 99020013 99020013 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 99020013 99020013 C G SNP IKBIP ENST00000299157 human ensembl 70_37 -1 known missense c.829 p.E277Q 1.000 NULL NULL - no_errors IKBIP HGNC IKBIP 121457 genome.wustl.edu 37 12 99020210 99020210 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 99020210 99020210 C G SNP IKBIP ENST00000299157 human ensembl 70_37 -1 known missense c.632 p.R211T 1.000 NULL NULL - no_errors IKBIP HGNC IL13RA2 3598 genome.wustl.edu 37 X 114251854 114251854 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 114251854 114251854 G C SNP IL13RA2 ENST00000468224 human ensembl 70_37 -1 known rna NULL NULL 0.037 - - - no_errors IL13RA2 HGNC IL16 3603 genome.wustl.edu 37 15 81585185 81585185 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 81585185 81585185 C T SNP IL16 ENST00000302987 human ensembl 70_37 +1 known missense c.1709 p.P570L 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_Interleukin-16 - no_errors IL16 HGNC IL17D 53342 genome.wustl.edu 37 13 21277402 21277402 + RNA SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 21277402 21277402 G T SNP IL17D ENST00000498088 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors IL17D HGNC IL4I1 259307 genome.wustl.edu 37 19 50394272 50394272 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 50394272 50394272 G A SNP IL4I1 ENST00000341114 human ensembl 70_37 -1 known silent c.795 p.F265 0.218 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_AlaDH/PNT_NAD(H)-bd,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors IL4I1 HGNC ILF2 3608 genome.wustl.edu 37 1 153637792 153637792 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 153637792 153637792 C T SNP ILF2 ENST00000361891 human ensembl 70_37 -1 known missense c.481 p.E161K 1.000 pfam_DZF,smart_DZF pfam_DZF,smart_DZF,pfscan_2-5-oligoadenylate_synth_N - no_errors ILF2 HGNC INADL 10207 genome.wustl.edu 37 1 62329999 62329999 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 62329999 62329999 G C SNP INADL ENST00000371158 human ensembl 70_37 +1 known missense c.2529 p.E843D 0.005 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC INF2 64423 genome.wustl.edu 37 14 105178822 105178822 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 105178822 105178822 C T SNP INF2 ENST00000392634 human ensembl 70_37 +1 known silent c.2542 p.L848 0.926 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_WH2_dom,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg,pfscan_WH2_dom - no_errors INF2 HGNC INO80 54617 genome.wustl.edu 37 15 41346164 41346164 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 41346164 41346164 C G SNP INO80 ENST00000361937 human ensembl 70_37 -1 known missense c.2237 p.R746T 1.000 pfam_SNF2_N pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors INO80 HGNC INPP4A 3631 genome.wustl.edu 37 2 99182575 99182575 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 99182575 99182575 G A SNP INPP4A ENST00000074304 human ensembl 70_37 +1 known missense c.2378 p.R793Q 1.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors INPP4A HGNC INPP4B 8821 genome.wustl.edu 37 4 143003309 143003309 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 143003309 143003309 G T SNP INPP4B ENST00000509777 human ensembl 70_37 -1 known missense c.2517 p.F839L 1.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors INPP4B HGNC INPP5B 3633 genome.wustl.edu 37 1 38397237 38397237 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 38397237 38397237 C A SNP INPP5B ENST00000373021 human ensembl 70_37 -1 known nonsense c.880 p.E294* 0.001 NULL NULL - no_errors INPP5B HGNC IPO8 10526 genome.wustl.edu 37 12 30792516 30792516 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 30792516 30792516 G T SNP IPO8 ENST00000256079 human ensembl 70_37 -1 known missense c.2422 p.H808N 0.998 superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO8 HGNC IPO8 10526 genome.wustl.edu 37 12 30826980 30826980 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 30826980 30826980 C G SNP IPO8 ENST00000256079 human ensembl 70_37 -1 known missense c.853 p.E285Q 1.000 pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO8 HGNC IQCD 115811 genome.wustl.edu 37 12 113638562 113638562 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 113638562 113638562 G C SNP IQCD ENST00000416617 human ensembl 70_37 -1 known silent c.786 p.L262 0.996 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCD HGNC IQCH 64799 genome.wustl.edu 37 15 67692531 67692531 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 67692531 67692531 G A SNP IQCH ENST00000335894 human ensembl 70_37 +1 known missense c.1985 p.R662Q 1.000 NULL pfscan_IQ_motif_EF-hand-BS - no_errors IQCH HGNC IQGAP2 10788 genome.wustl.edu 37 5 75970513 75970513 + Nonsense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 75970513 75970513 C G SNP IQGAP2 ENST00000274364 human ensembl 70_37 +1 known nonsense c.3506 p.S1169* 1.000 superfamily_Rho_GTPase_activation_prot,smart_RasGAP pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,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 IQGAP2 HGNC IQSEC1 9922 genome.wustl.edu 37 3 12977762 12977762 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 12977762 12977762 C T SNP IQSEC1 ENST00000273221 human ensembl 70_37 -1 known missense c.796 p.E266K 1.000 NULL pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7 - no_errors IQSEC1 HGNC IRAK1 3654 genome.wustl.edu 37 X 153282449 153282449 + Nonsense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 153282449 153282449 G A SNP IRAK1 ENST00000369980 human ensembl 70_37 -1 known nonsense c.979 p.Q327* 0.999 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_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors IRAK1 HGNC IRF2BPL 64207 genome.wustl.edu 37 14 77492702 77492702 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 77492702 77492702 G A SNP IRF2BPL ENST00000238647 human ensembl 70_37 -1 known silent c.1434 p.L478 0.908 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BPL HGNC IRS4 8471 genome.wustl.edu 37 X 107979074 107979074 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 107979074 107979074 G A SNP IRS4 ENST00000372129 human ensembl 70_37 -1 known silent c.501 p.L167 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ISYNA1 51477 genome.wustl.edu 37 19 18547798 18547798 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 18547798 18547798 C T SNP ISYNA1 ENST00000338128 human ensembl 70_37 -1 known missense c.400 p.D134N 1.000 pfam_Myo-inos-1-P_Synthase,pirsf_Myo-inos-1-P_Synthase pfam_Myo-inos-1-P_Synthase,pfam_Myo-inos-1-P_Synthase_GAPDH,pirsf_Myo-inos-1-P_Synthase - no_errors ISYNA1 HGNC ITFG3 83986 genome.wustl.edu 37 16 310063 310063 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 310063 310063 G C SNP ITFG3 ENST00000301678 human ensembl 70_37 +1 known missense c.481 p.E161Q 0.010 superfamily_Quinonprotein_ADH-like superfamily_Quinonprotein_ADH-like - no_errors ITFG3 HGNC ITGB1BP2 26548 genome.wustl.edu 37 X 70521661 70521661 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 70521661 70521661 C G SNP ITGB1BP2 ENST00000373829 human ensembl 70_37 +1 known missense c.5 p.S2C 1.000 pfam_CHORD pfam_CHORD,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain - no_errors ITGB1BP2 HGNC ITIH2 3698 genome.wustl.edu 37 10 7759602 7759602 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 7759602 7759602 G C SNP ITIH2 ENST00000358415 human ensembl 70_37 +1 known missense c.481 p.D161H 0.996 pfam_VIT,smart_VIT pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH2 HGNC ITPR1 3708 genome.wustl.edu 37 3 4836777 4836777 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 4836777 4836777 C T SNP ITPR1 ENST00000302640 human ensembl 70_37 +1 known silent c.6792 p.R2264 0.958 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ITPR2 3709 genome.wustl.edu 37 12 26752981 26752981 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 26752981 26752981 C T SNP ITPR2 ENST00000381340 human ensembl 70_37 -1 known missense c.3740 p.R1247Q 0.791 pfam_Ca-rel_channel,superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd - no_errors ITPR2 HGNC ITSN1 6453 genome.wustl.edu 37 21 35154300 35154300 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 35154300 35154300 G C SNP ITSN1 ENST00000381285 human ensembl 70_37 +1 known missense c.1687 p.D563H 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 ITSN1 HGNC ITSN2 50618 genome.wustl.edu 37 2 24469689 24469689 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 24469689 24469689 C G SNP ITSN2 ENST00000355123 human ensembl 70_37 -1 known missense c.3362 p.R1121T 1.000 superfamily_SH3_domain 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 JAK1 3716 genome.wustl.edu 37 1 65312460 65312460 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 65312460 65312460 C G SNP JAK1 ENST00000471473 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors JAK1 HGNC JAKMIP3 282973 genome.wustl.edu 37 10 133955450 133955450 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 133955450 133955450 G C SNP JAKMIP3 ENST00000298622 human ensembl 70_37 +1 known silent c.1500 p.L500 1.000 NULL NULL - no_errors JAKMIP3 HGNC JDP2 122953 genome.wustl.edu 37 14 75935999 75935999 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 75935999 75935999 G A SNP JDP2 ENST00000267569 human ensembl 70_37 +1 known missense c.346 p.E116K 1.000 pfam_bZIP,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors JDP2 HGNC KANK2 25959 genome.wustl.edu 37 19 11303634 11303634 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 11303634 11303634 C G SNP KANK2 ENST00000432929 human ensembl 70_37 -1 known missense c.1122 p.E374D 0.837 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK2 HGNC KANK2 25959 genome.wustl.edu 37 19 11303837 11303837 + Nonsense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 11303837 11303837 G A SNP KANK2 ENST00000432929 human ensembl 70_37 -1 known nonsense c.919 p.Q307* 0.996 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK2 HGNC KANK2 25959 genome.wustl.edu 37 19 11303838 11303838 + Silent SNP A A G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 11303838 11303838 A G SNP KANK2 ENST00000432929 human ensembl 70_37 -1 known silent c.918 p.A306 0.976 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK2 HGNC KANK4 163782 genome.wustl.edu 37 1 62739081 62739081 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 62739081 62739081 C T SNP KANK4 ENST00000371153 human ensembl 70_37 -1 known silent c.1695 p.K565 0.991 NULL pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK4 HGNC KLHL41 10324 genome.wustl.edu 37 2 170371123 170371123 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 170371123 170371123 C T SNP KBTBD10 ENST00000284669 human ensembl 70_37 +1 known silent c.1150 p.L384 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD10 HGNC KCNC4 3749 genome.wustl.edu 37 1 110774856 110774856 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 110774856 110774856 C T SNP KCNC4 ENST00000369787 human ensembl 70_37 +1 known silent c.1833 p.L611 0.001 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_K_chnl_volt-dep_Kv3_ID,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.4,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC4 HGNC KCND1 3750 genome.wustl.edu 37 X 48826642 48826642 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 48826642 48826642 G A SNP KCND1 ENST00000218176 human ensembl 70_37 -1 known missense c.37 p.R13W 0.072 pfam_Shal-type pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND1 HGNC KCNG3 170850 genome.wustl.edu 37 2 42720542 42720542 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 42720542 42720542 G A SNP KCNG3 ENST00000306078 human ensembl 70_37 -1 known missense c.100 p.R34C 0.999 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG3 HGNC KCNJ12 3768 genome.wustl.edu 37 17 21318909 21318909 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 21318909 21318909 C G SNP KCNJ12 ENST00000331718 human ensembl 70_37 +1 known silent c.255 p.L85 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC KDM2A 22992 genome.wustl.edu 37 11 67022514 67022514 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 67022514 67022514 G A SNP KDM2A ENST00000529006 human ensembl 70_37 +1 known silent c.3477 p.Q1159 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC KDM4B 23030 genome.wustl.edu 37 19 5134045 5134045 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 5134045 5134045 C G SNP KDM4B ENST00000159111 human ensembl 70_37 +1 known missense c.2058 p.I686M 1.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC KDM5C 8242 genome.wustl.edu 37 X 53253979 53253979 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 53253979 53253979 G A SNP KDM5C ENST00000375401 human ensembl 70_37 -1 known silent c.93 p.I31 0.979 pfam_TF_JmjN,smart_TF_JmjN,pfscan_TF_JmjN pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,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 KDM5C HGNC KDM6A 7403 genome.wustl.edu 37 X 44928921 44928921 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 44928921 44928921 C A SNP KDM6A ENST00000382899 human ensembl 70_37 +1 known missense c.2042 p.S681Y 1.000 NULL pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC KDM6A 7403 genome.wustl.edu 37 X 44928929 44928929 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 44928929 44928929 C T SNP KDM6A ENST00000382899 human ensembl 70_37 +1 known nonsense c.2050 p.Q684* 1.000 NULL pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC KDM6A 7403 genome.wustl.edu 37 X 44929242 44929242 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 44929242 44929242 C A SNP KDM6A ENST00000382899 human ensembl 70_37 +1 known missense c.2363 p.S788Y 1.000 NULL pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC KDM6A 7403 genome.wustl.edu 37 X 44929322 44929322 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 44929322 44929322 C T SNP KDM6A ENST00000382899 human ensembl 70_37 +1 known missense c.2443 p.H815Y 1.000 NULL pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC KDM6A 7403 genome.wustl.edu 37 X 44929341 44929341 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 44929341 44929341 C T SNP KDM6A ENST00000382899 human ensembl 70_37 +1 known missense c.2462 p.S821F 1.000 NULL pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC KDM6A 7403 genome.wustl.edu 37 X 44929353 44929353 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 44929353 44929353 C T SNP KDM6A ENST00000382899 human ensembl 70_37 +1 known missense c.2474 p.S825L 1.000 NULL pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC KDM6A 7403 genome.wustl.edu 37 X 44929362 44929362 + Nonsense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 44929362 44929362 C G SNP KDM6A ENST00000382899 human ensembl 70_37 +1 known nonsense c.2483 p.S828* 1.000 NULL pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC KHDC1L 100129128 genome.wustl.edu 37 6 73933558 73933558 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 73933558 73933558 C T SNP KHDC1L ENST00000370388 human ensembl 70_37 -1 known silent c.300 p.L100 0.000 NULL NULL - no_errors KHDC1L HGNC KIAA0195 9772 genome.wustl.edu 37 17 73482471 73482471 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 73482471 73482471 G C SNP KIAA0195 ENST00000314256 human ensembl 70_37 +1 known missense c.373 p.E125Q 0.993 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC KIAA0232 9778 genome.wustl.edu 37 4 6882621 6882621 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 6882621 6882621 G C SNP KIAA0232 ENST00000307659 human ensembl 70_37 +1 known missense c.4116 p.E1372D 0.610 NULL NULL - no_errors KIAA0232 HGNC KIAA0319L 79932 genome.wustl.edu 37 1 35906603 35906603 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 35906603 35906603 G A SNP KIAA0319L ENST00000485551 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors KIAA0319L HGNC KIAA0513 9764 genome.wustl.edu 37 16 85106603 85106603 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 85106603 85106603 G C SNP KIAA0513 ENST00000258180 human ensembl 70_37 +1 known missense c.502 p.E168Q 1.000 NULL pfam_SBF2 - no_errors KIAA0513 HGNC KIAA1109 84162 genome.wustl.edu 37 4 123160901 123160901 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 123160901 123160901 C T SNP KIAA1109 ENST00000264501 human ensembl 70_37 +1 known missense c.4064 p.S1355L 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC KIAA1109 84162 genome.wustl.edu 37 4 123254926 123254926 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 123254926 123254926 G A SNP KIAA1109 ENST00000264501 human ensembl 70_37 +1 known missense c.11608 p.E3870K 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC KIAA1210 57481 genome.wustl.edu 37 X 118222063 118222063 + Missense_Mutation SNP T T G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 118222063 118222063 T G SNP KIAA1210 ENST00000402510 human ensembl 70_37 -1 known missense c.3130 p.T1044P 0.000 NULL NULL - no_errors KIAA1210 HGNC KIAA1244 57221 genome.wustl.edu 37 6 138612946 138612946 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 138612946 138612946 C T SNP KIAA1244 ENST00000251691 human ensembl 70_37 +1 known nonsense c.3124 p.Q1042* 1.000 superfamily_ARM-type_fold pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7 - no_errors KIAA1244 HGNC KIAA1407 57577 genome.wustl.edu 37 3 113729736 113729736 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 113729736 113729736 C T SNP KIAA1407 ENST00000295878 human ensembl 70_37 -1 known silent c.1296 p.K432 1.000 NULL NULL - no_errors KIAA1407 HGNC KIAA1429 25962 genome.wustl.edu 37 8 95539477 95539477 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 95539477 95539477 G A SNP KIAA1429 ENST00000297591 human ensembl 70_37 -1 known missense c.995 p.S332L 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC KIAA1551 55196 genome.wustl.edu 37 12 32145362 32145362 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 32145362 32145362 G C SNP KIAA1551 ENST00000312561 human ensembl 70_37 +1 known missense c.5137 p.E1713Q 0.024 NULL NULL - no_errors KIAA1551 HGNC KIAA1683 80726 genome.wustl.edu 37 19 18376082 18376082 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 18376082 18376082 G A SNP KIAA1683 ENST00000392413 human ensembl 70_37 -1 known silent c.2268 p.L756 0.002 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors KIAA1683 HGNC KIAA1875 340390 genome.wustl.edu 37 8 145163617 145163617 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 145163617 145163617 G T SNP KIAA1875 ENST00000534167 human ensembl 70_37 +1 known missense c.648 p.M216I 0.000 superfamily_WD40_repeat_dom 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 KIAA1875 HGNC KIAA1875 340390 genome.wustl.edu 37 8 145164292 145164292 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 145164292 145164292 C T SNP KIAA1875 ENST00000534167 human ensembl 70_37 +1 known missense c.1055 p.S352L 0.869 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep 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 KIAA1875 HGNC KIAA1984 84960 genome.wustl.edu 37 9 139690910 139690910 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 139690910 139690910 C G SNP KIAA1984 ENST00000338005 human ensembl 70_37 +1 known missense c.61 p.Q21E 0.105 NULL NULL - no_errors KIAA1984 HGNC KIAA2013 90231 genome.wustl.edu 37 1 11983500 11983500 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 11983500 11983500 G A SNP KIAA2013 ENST00000376576 human ensembl 70_37 -1 known silent c.1080 p.L360 0.999 pfam_DUF2152 pfam_DUF2152 - no_errors KIAA2013 HGNC KIAA2026 158358 genome.wustl.edu 37 9 6007599 6007599 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 6007599 6007599 C T SNP KIAA2026 ENST00000399933 human ensembl 70_37 -1 novel missense c.189 p.M63I 0.986 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC KIDINS220 57498 genome.wustl.edu 37 2 8931331 8931331 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 8931331 8931331 C G SNP KIDINS220 ENST00000256707 human ensembl 70_37 -1 known missense c.1300 p.D434H 0.995 NULL pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC KIF13B 23303 genome.wustl.edu 37 8 28988056 28988056 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 28988056 28988056 G A SNP KIF13B ENST00000524189 human ensembl 70_37 -1 known silent c.3069 p.L1023 1.000 pfam_Kinesin-like pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC KIF19 124602 genome.wustl.edu 37 17 72350453 72350453 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 72350453 72350453 G A SNP KIF19 ENST00000389916 human ensembl 70_37 +1 known missense c.2461 p.A821T 0.007 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF19 HGNC KIF1A 547 genome.wustl.edu 37 2 241697000 241697000 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 241697000 241697000 G C SNP KIF1A ENST00000498729 human ensembl 70_37 -1 known missense c.2594 p.S865C 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC KIF26B 55083 genome.wustl.edu 37 1 245765894 245765894 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 245765894 245765894 C T SNP KIF26B ENST00000407071 human ensembl 70_37 +1 known missense c.1366 p.R456C 1.000 smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC KIF3C 3797 genome.wustl.edu 37 2 26152236 26152236 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 26152236 26152236 G A SNP KIF3C ENST00000264712 human ensembl 70_37 -1 known silent c.2226 p.L742 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3C HGNC KIF5A 3798 genome.wustl.edu 37 12 57944127 57944127 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 57944127 57944127 C T SNP KIF5A ENST00000455537 human ensembl 70_37 +1 known silent c.73 p.L25 0.985 smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5A HGNC KIF6 221458 genome.wustl.edu 37 6 39512397 39512397 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 39512397 39512397 C G SNP KIF6 ENST00000287152 human ensembl 70_37 -1 known missense c.1360 p.E454Q 0.003 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF6 HGNC KIF6 221458 genome.wustl.edu 37 6 39581039 39581039 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 39581039 39581039 G C SNP KIF6 ENST00000287152 human ensembl 70_37 -1 known missense c.565 p.L189V 0.957 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF6 HGNC KIF7 374654 genome.wustl.edu 37 15 90173618 90173618 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 90173618 90173618 G A SNP KIF7 ENST00000394412 human ensembl 70_37 -1 known missense c.3218 p.S1073L 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC KIRREL3 84623 genome.wustl.edu 37 11 126316661 126316661 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 126316661 126316661 G C SNP KIRREL3 ENST00000525144 human ensembl 70_37 -1 known missense c.1118 p.S373C 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors KIRREL3 HGNC KIT 3815 genome.wustl.edu 37 4 55595645 55595645 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 55595645 55595645 C T SNP KIT ENST00000288135 human ensembl 70_37 +1 known missense c.2135 p.S712F 0.002 pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors KIT HGNC KLHL42 57542 genome.wustl.edu 37 12 27933812 27933812 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 27933812 27933812 G C SNP KLHDC5 ENST00000381271 human ensembl 70_37 +1 known missense c.549 p.Q183H 1.000 NULL pfam_Kelch_1,pfam_BACK,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHDC5 HGNC KLHDC9 126823 genome.wustl.edu 37 1 161069237 161069237 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 161069237 161069237 G A SNP KLHDC9 ENST00000368011 human ensembl 70_37 +1 known missense c.629 p.G210E 1.000 superfamily_Gal_Oxase/kelch_b-propeller superfamily_Gal_Oxase/kelch_b-propeller - no_errors KLHDC9 HGNC KLHL1 57626 genome.wustl.edu 37 13 70535470 70535470 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 70535470 70535470 G A SNP KLHL1 ENST00000377844 human ensembl 70_37 -1 known missense c.787 p.L263F 0.997 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC KLHL1 57626 genome.wustl.edu 37 13 70681805 70681805 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 70681805 70681805 G A SNP KLHL1 ENST00000377844 human ensembl 70_37 -1 known silent c.27 p.F9 0.999 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC KLHL11 55175 genome.wustl.edu 37 17 40010025 40010025 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 40010025 40010025 C T SNP KLHL11 ENST00000319121 human ensembl 70_37 -1 known missense c.2094 p.M698I 1.000 NULL pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL11 HGNC KLHL2 11275 genome.wustl.edu 37 4 166231890 166231890 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 166231890 166231890 G C SNP KLHL2 ENST00000226725 human ensembl 70_37 +1 known missense c.1225 p.D409H 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL2 HGNC KLHL23 151230 genome.wustl.edu 37 2 170592188 170592188 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 170592188 170592188 C T SNP KLHL23 ENST00000272797 human ensembl 70_37 +1 known silent c.664 p.L222 1.000 pfam_BACK,smart_BACK,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 KLHL23 HGNC KLHL28 54813 genome.wustl.edu 37 14 45414681 45414681 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 45414681 45414681 C T SNP KLHL28 ENST00000396128 human ensembl 70_37 -1 known missense c.451 p.D151N 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL28 HGNC KLHL36 79786 genome.wustl.edu 37 16 84690989 84690989 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 84690989 84690989 G C SNP KLHL36 ENST00000564996 human ensembl 70_37 +1 known missense c.576 p.K192N 1.000 pfam_BACK,smart_BACK,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 KLHL36 HGNC KLHL4 56062 genome.wustl.edu 37 X 86772994 86772994 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 86772994 86772994 G A SNP KLHL4 ENST00000373114 human ensembl 70_37 +1 known missense c.98 p.G33E 1.000 NULL pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC KLHL9 55958 genome.wustl.edu 37 9 21334600 21334600 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 21334600 21334600 C G SNP KLHL9 ENST00000359039 human ensembl 70_37 -1 known missense c.259 p.E87Q 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL9 HGNC KPNA2 3838 genome.wustl.edu 37 17 66039098 66039098 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 66039098 66039098 G C SNP KPNA2 ENST00000330459 human ensembl 70_37 +1 known missense c.649 p.D217H 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA2 HGNC KPNA3 3839 genome.wustl.edu 37 13 50285123 50285123 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 50285123 50285123 C G SNP KPNA3 ENST00000261667 human ensembl 70_37 -1 known missense c.807 p.L269F 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA3 HGNC KRT10 3858 genome.wustl.edu 37 17 38978671 38978671 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 38978671 38978671 G C SNP KRT10 ENST00000269576 human ensembl 70_37 -1 known missense c.167 p.S56C 0.992 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT10 HGNC KRT6B 3854 genome.wustl.edu 37 12 52845379 52845379 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 52845379 52845379 C T SNP KRT6B ENST00000252252 human ensembl 70_37 -1 known missense c.484 p.E162K 0.985 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC KRT79 338785 genome.wustl.edu 37 12 53216101 53216101 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 53216101 53216101 G C SNP KRT79 ENST00000549255 human ensembl 70_37 -1 putative missense c.188 p.S63C 0.006 NULL pfam_F - no_errors KRT79 HGNC KRTAP10-11 386678 genome.wustl.edu 37 21 46066445 46066445 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 46066445 46066445 G C SNP KRTAP10-11 ENST00000334670 human ensembl 70_37 +1 known missense c.70 p.E24Q 1.000 NULL NULL - no_errors KRTAP10-11 HGNC KRTAP12-4 386684 genome.wustl.edu 37 21 46074281 46074281 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 46074281 46074281 G A SNP KRTAP12-4 ENST00000391618 human ensembl 70_37 -1 known missense c.251 p.S84F 0.002 NULL NULL - no_errors KRTAP12-4 HGNC KRTAP2-2 728279 genome.wustl.edu 37 17 39211182 39211182 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 39211182 39211182 C T SNP KRTAP2-2 ENST00000542910 human ensembl 70_37 -1 known nonsense c.282 p.W94* 1.000 NULL pfam_Keratin-assoc - no_errors KRTAP2-2 HGNC KTN1 3895 genome.wustl.edu 37 14 56078923 56078923 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 56078923 56078923 G C SNP KTN1 ENST00000395309 human ensembl 70_37 +1 known missense c.157 p.D53H 1.000 NULL NULL - no_errors KTN1 HGNC KY 339855 genome.wustl.edu 37 3 134369692 134369692 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 134369692 134369692 C G SNP KY ENST00000423778 human ensembl 70_37 -1 known silent c.111 p.P37 0.996 NULL pfam_Transglutaminase-like,smart_Transglutaminase-like - no_errors KY HGNC LAMC3 10319 genome.wustl.edu 37 9 133962880 133962880 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 133962880 133962880 G A SNP LAMC3 ENST00000361069 human ensembl 70_37 +1 known silent c.4248 p.L1416 0.990 NULL pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC LARGE 9215 genome.wustl.edu 37 22 33673147 33673147 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 33673147 33673147 C G SNP LARGE ENST00000354992 human ensembl 70_37 -1 known missense c.1972 p.E658Q 1.000 NULL pfam_Glyco_trans_8 - no_errors LARGE HGNC LAS1L 81887 genome.wustl.edu 37 X 64742159 64742159 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 64742159 64742159 G A SNP LAS1L ENST00000484069 human ensembl 70_37 -1 known rna NULL NULL 0.736 - - - no_errors LAS1L HGNC LAS1L 81887 genome.wustl.edu 37 X 64742692 64742692 + RNA SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 64742692 64742692 G T SNP LAS1L ENST00000484069 human ensembl 70_37 -1 known rna NULL NULL 0.047 - - - no_errors LAS1L HGNC LATS1 9113 genome.wustl.edu 37 6 149983239 149983239 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 149983239 149983239 G A SNP LATS1 ENST00000253339 human ensembl 70_37 -1 known missense c.3019 p.H1007Y 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors LATS1 HGNC LCA5 167691 genome.wustl.edu 37 6 80196912 80196912 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 80196912 80196912 C G SNP LCA5 ENST00000369846 human ensembl 70_37 -1 known missense c.1903 p.D635H 0.532 NULL NULL - no_errors LCA5 HGNC LDB1 8861 genome.wustl.edu 37 10 103867963 103867963 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 103867963 103867963 C T SNP LDB1 ENST00000425280 human ensembl 70_37 -1 known missense c.1123 p.E375K 1.000 NULL NULL - no_errors LDB1 HGNC LDB1 8861 genome.wustl.edu 37 10 103868034 103868034 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 103868034 103868034 C T SNP LDB1 ENST00000425280 human ensembl 70_37 -1 known missense c.1052 p.G351E 1.000 NULL NULL - no_errors LDB1 HGNC LDB1 8861 genome.wustl.edu 37 10 103868035 103868035 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 103868035 103868035 C T SNP LDB1 ENST00000425280 human ensembl 70_37 -1 known missense c.1051 p.G351R 1.000 NULL NULL - no_errors LDB1 HGNC LEPRE1 64175 genome.wustl.edu 37 1 43212309 43212309 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 43212309 43212309 G C SNP LEPRE1 ENST00000462474 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors LEPRE1 HGNC LHFPL5 222662 genome.wustl.edu 37 6 35787460 35787460 + RNA DEL T T - TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 35787460 35787460 T - DEL LHFPL5 ENST00000496656 human ensembl 70_37 +1 known rna NULL NULL 0.022 - - - no_errors LHFPL5 HGNC LHX8 431707 genome.wustl.edu 37 1 75608863 75608863 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 75608863 75608863 G C SNP LHX8 ENST00000294638 human ensembl 70_37 +1 known silent c.450 p.R150 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LHX8 HGNC LIMA1 51474 genome.wustl.edu 37 12 50575814 50575814 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 50575814 50575814 G C SNP LIMA1 ENST00000394943 human ensembl 70_37 -1 known missense c.1150 p.Q384E 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMA1 HGNC LINC00208 83655 genome.wustl.edu 37 8 11438347 11438347 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 11438347 11438347 G C SNP LINC00208 ENST00000304233 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00208 HGNC LINC00467 84791 genome.wustl.edu 37 1 211599579 211599579 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 211599579 211599579 G C SNP LINC00467 ENST00000423222 human ensembl 70_37 +1 known rna NULL NULL 0.041 - - - no_errors LINC00467 HGNC LINC00473 90632 genome.wustl.edu 37 6 166401262 166401262 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 166401262 166401262 C T SNP LINC00473 ENST00000444465 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00473 HGNC LINC00671 388387 genome.wustl.edu 37 17 41031767 41031767 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 41031767 41031767 C G SNP LINC00671 ENST00000301683 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00671 HGNC LINS 55180 genome.wustl.edu 37 15 101110081 101110081 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 101110081 101110081 C G SNP LINS ENST00000314742 human ensembl 70_37 -1 known missense c.1636 p.D546H 0.360 NULL NULL - no_errors LINS HGNC LMO7 4008 genome.wustl.edu 37 13 76395627 76395627 + Nonsense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 76395627 76395627 C G SNP LMO7 ENST00000357063 human ensembl 70_37 +1 known nonsense c.2678 p.S893* 1.000 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC LMO7 4008 genome.wustl.edu 37 13 76415797 76415797 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 76415797 76415797 C G SNP LMO7 ENST00000357063 human ensembl 70_37 +1 known missense c.3865 p.L1289V 0.001 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC LOC100129027 100129027 genome.wustl.edu 37 21 47250213 47250213 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 47250213 47250213 G A SNP LOC100129027 ENST00000380008 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors AL592528.1 Clone_based_vega_gene LOC100132247 100132247 genome.wustl.edu 37 16 22545935 22545935 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 22545935 22545935 C T SNP LOC100132247 ENST00000424340 human ensembl 70_37 +1 known missense c.1631 p.S544L 0.015 pfam_NPIP pfam_NPIP - no_errors 61E3.4 Uniprot_genename LOC100133091 100133091 genome.wustl.edu 37 7 76255977 76255977 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 76255977 76255977 C G SNP LOC100133091 ENST00000418663 human ensembl 70_37 +1 known rna NULL NULL 0.079 - - - no_errors AC004980.7 Clone_based_vega_gene LOC100287879 100287879 genome.wustl.edu 37 3 64072797 64072797 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 64072797 64072797 C G SNP LOC100287879 ENST00000485805 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-129B22.2 Clone_based_vega_gene LOC100507003 100507003 genome.wustl.edu 37 19 49931279 49931279 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 49931279 49931279 G C SNP LOC100507003 ENST00000576655 human ensembl 70_37 +1 putative silent c.1260 p.L420 0.891 NULL NULL - no_errors CTD-3148I10.1 Clone_based_vega_gene LOC100507199 100507199 genome.wustl.edu 37 X 151073046 151073046 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 151073046 151073046 C G SNP LOC100507199 ENST00000411474 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-366F6.2 Clone_based_vega_gene LOC100652824 100652824 genome.wustl.edu 37 2 202967705 202967705 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 202967705 202967705 G A SNP LOC100652824 ENST00000541917 human ensembl 70_37 +1 known missense c.1192 p.E398K 0.835 NULL NULL - no_errors FLJ39061 Uniprot_genename LOC101060590 101060590 genome.wustl.edu 37 1 148951425 148951425 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 148951425 148951425 G A SNP LOC101060590 ENST00000452399 human ensembl 70_37 +1 known rna NULL NULL 0.851 - - - no_errors RP11-14N7.2 Clone_based_vega_gene LOC150051 150051 genome.wustl.edu 37 21 32931906 32931906 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 32931906 32931906 G A SNP LOC150051 ENST00000433071 human ensembl 70_37 +1 known rna NULL NULL 0.996 - - - no_errors AP000251.2 Clone_based_vega_gene LOC728175 728175 genome.wustl.edu 37 4 185263061 185263061 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 185263061 185263061 C T SNP LOC728175 ENST00000317596 human ensembl 70_37 -1 known rna NULL NULL 0.021 - - - no_errors RP11-290F5.2 Clone_based_vega_gene LPHN1 22859 genome.wustl.edu 37 19 14270986 14270986 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 14270986 14270986 C G SNP LPHN1 ENST00000340736 human ensembl 70_37 -1 known missense c.1753 p.D585H 1.000 pfam_DUF3497 pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN1 HGNC LPHN3 23284 genome.wustl.edu 37 4 62761478 62761478 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 62761478 62761478 G T SNP LPHN3 ENST00000507625 human ensembl 70_37 +1 known missense c.1813 p.D605Y 1.000 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC LPHN3 23284 genome.wustl.edu 37 4 62845482 62845482 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 62845482 62845482 G A SNP LPHN3 ENST00000507625 human ensembl 70_37 +1 known missense c.3007 p.D1003N 0.999 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC LPO 4025 genome.wustl.edu 37 17 56329551 56329551 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 56329551 56329551 C T SNP LPO ENST00000262290 human ensembl 70_37 +1 known silent c.789 p.P263 0.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors LPO HGNC LRG1 116844 genome.wustl.edu 37 19 4538053 4538053 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 4538053 4538053 G C SNP LRG1 ENST00000306390 human ensembl 70_37 -1 known missense c.943 p.Q315E 0.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRG1 HGNC LRIG1 26018 genome.wustl.edu 37 3 66433434 66433434 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 66433434 66433434 C G SNP LRIG1 ENST00000273261 human ensembl 70_37 -1 known missense c.2463 p.K821N 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,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 LRIG1 HGNC LRP1 4035 genome.wustl.edu 37 12 57522810 57522810 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 57522810 57522810 C G SNP LRP1 ENST00000243077 human ensembl 70_37 +1 known missense c.63 p.I21M 0.689 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC LRP1B 53353 genome.wustl.edu 37 2 141083363 141083363 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 141083363 141083363 G C SNP LRP1B ENST00000389484 human ensembl 70_37 -1 known missense c.12308 p.S4103C 1.000 superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC LRP1B 53353 genome.wustl.edu 37 2 141253266 141253266 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 141253266 141253266 C G SNP LRP1B ENST00000389484 human ensembl 70_37 -1 known missense c.8902 p.D2968H 1.000 superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC LRP8 7804 genome.wustl.edu 37 1 53728200 53728200 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 53728200 53728200 C G SNP LRP8 ENST00000306052 human ensembl 70_37 -1 known missense c.1692 p.K564N 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP8 HGNC LRRC1 55227 genome.wustl.edu 37 6 53787584 53787584 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 53787584 53787584 C T SNP LRRC1 ENST00000370888 human ensembl 70_37 +1 known missense c.1568 p.S523F 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC1 HGNC LRRC36 55282 genome.wustl.edu 37 16 67410677 67410677 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 67410677 67410677 C T SNP LRRC36 ENST00000329956 human ensembl 70_37 +1 known nonsense c.1708 p.Q570* 1.000 NULL NULL - no_errors LRRC36 HGNC LRRC37A11P 342666 genome.wustl.edu 37 17 37188200 37188200 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 37188200 37188200 C G SNP LRRC37A11P ENST00000425901 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors LRRC37A11P HGNC LRRC37B 114659 genome.wustl.edu 37 17 30348320 30348320 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 30348320 30348320 C T SNP LRRC37B ENST00000341671 human ensembl 70_37 +1 known missense c.155 p.S52F 0.009 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37B HGNC LRRC41 10489 genome.wustl.edu 37 1 46726877 46726877 + RNA DEL T T - TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 46726877 46726877 T - DEL LRRC41 ENST00000496156 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors LRRC41 HGNC LRRC43 254050 genome.wustl.edu 37 12 122685407 122685407 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 122685407 122685407 G A SNP LRRC43 ENST00000339777 human ensembl 70_37 +1 known missense c.1735 p.E579K 0.999 NULL NULL - no_errors LRRC43 HGNC LRRC8B 23507 genome.wustl.edu 37 1 90058471 90058471 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 90058471 90058471 G A SNP LRRC8B ENST00000330947 human ensembl 70_37 +1 known missense c.2281 p.E761K 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8B HGNC LRRN1 57633 genome.wustl.edu 37 3 3886887 3886887 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 3886887 3886887 G C SNP LRRN1 ENST00000319331 human ensembl 70_37 +1 known missense c.562 p.D188H 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRRN1 HGNC LSAMP 4045 genome.wustl.edu 37 3 115560818 115560818 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 115560818 115560818 C G SNP LSAMP ENST00000490035 human ensembl 70_37 -1 known missense c.793 p.E265Q 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LSAMP HGNC LSM6 11157 genome.wustl.edu 37 4 147110796 147110796 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 147110796 147110796 G C SNP LSM6 ENST00000296581 human ensembl 70_37 +1 known missense c.231 p.K77N 1.000 superfamily_LSM_dom pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors LSM6 HGNC LTBP3 4054 genome.wustl.edu 37 11 65308423 65308423 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 65308423 65308423 C T SNP LTBP3 ENST00000301873 human ensembl 70_37 -1 known missense c.2896 p.E966K 0.998 pfam_TB_dom,superfamily_TB_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP3 HGNC MACF1 23499 genome.wustl.edu 37 1 39735230 39735230 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 39735230 39735230 G C SNP MACF1 ENST00000496804 human ensembl 70_37 +1 known silent c.861 p.V287 0.977 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain - no_errors MACF1 HGNC MADCAM1 8174 genome.wustl.edu 37 19 498693 498693 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 498693 498693 G T SNP MADCAM1 ENST00000215637 human ensembl 70_37 +1 known nonsense c.535 p.E179* 0.053 pfam_Adhes-Ig-like pfam_Adhes-Ig-like,smart_Ig_sub,pfscan_Ig-like - no_errors MADCAM1 HGNC MADD 8567 genome.wustl.edu 37 11 47306884 47306884 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 47306884 47306884 C T SNP MADD ENST00000524686 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MADD HGNC MAGEB17 645864 genome.wustl.edu 37 X 16188680 16188680 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 16188680 16188680 C T SNP MAGEB17 ENST00000400003 human ensembl 70_37 +1 known missense c.175 p.P59S 0.002 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB17 HGNC MAGEB17 645864 genome.wustl.edu 37 X 16188732 16188732 + Nonsense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 16188732 16188732 C G SNP MAGEB17 ENST00000400003 human ensembl 70_37 +1 known nonsense c.227 p.S76* 0.001 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB17 HGNC MAGEB3 4114 genome.wustl.edu 37 X 30254171 30254171 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 30254171 30254171 C G SNP MAGEB3 ENST00000361644 human ensembl 70_37 +1 known missense c.130 p.L44V 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB3 HGNC MAGEB4 4115 genome.wustl.edu 37 X 30260591 30260591 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 30260591 30260591 G A SNP MAGEB4 ENST00000378982 human ensembl 70_37 +1 known silent c.339 p.T113 0.000 pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB4 HGNC MAGEE1 57692 genome.wustl.edu 37 X 75649011 75649011 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 75649011 75649011 G A SNP MAGEE1 ENST00000361470 human ensembl 70_37 +1 known missense c.688 p.E230K 0.014 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC MAGI3 260425 genome.wustl.edu 37 1 114165510 114165510 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 114165510 114165510 G C SNP MAGI3 ENST00000369611 human ensembl 70_37 +1 known missense c.1254 p.M418I 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI3 HGNC MAK 4117 genome.wustl.edu 37 6 10796315 10796315 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 10796315 10796315 C G SNP MAK ENST00000313243 human ensembl 70_37 -1 known silent c.1059 p.L353 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAK HGNC MAK16 84549 genome.wustl.edu 37 8 33354807 33354807 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 33354807 33354807 G A SNP MAK16 ENST00000360128 human ensembl 70_37 +1 known missense c.697 p.D233N 1.000 pfam_Mak16,pirsf_Mak16 pfam_Mak16,pirsf_Mak16 - no_errors MAK16 HGNC MAP2 4133 genome.wustl.edu 37 2 210543385 210543385 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 210543385 210543385 G C SNP MAP2 ENST00000360351 human ensembl 70_37 +1 known missense c.352 p.D118H 1.000 NULL pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC MAP3K10 4294 genome.wustl.edu 37 19 40698214 40698214 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 40698214 40698214 G A SNP MAP3K10 ENST00000253055 human ensembl 70_37 +1 known silent c.276 p.E92 1.000 pirsf_MAPKKK9/10/11,superfamily_Kinase-like_dom pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors MAP3K10 HGNC MAP3K12 7786 genome.wustl.edu 37 12 53880774 53880774 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 53880774 53880774 C T SNP MAP3K12 ENST00000267079 human ensembl 70_37 -1 known missense c.303 p.M101I 1.000 pirsf_MAP3K12_MAP3K13 pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K12 HGNC MAP3K14 9020 genome.wustl.edu 37 17 43350897 43350897 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 43350897 43350897 C G SNP MAP3K14 ENST00000344686 human ensembl 70_37 -1 known rna NULL NULL 0.610 - - - no_errors MAP3K14 HGNC MAPK8IP3 23162 genome.wustl.edu 37 16 1797130 1797130 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 1797130 1797130 C T SNP MAPK8IP3 ENST00000250894 human ensembl 70_37 +1 known missense c.845 p.S282L 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC MAST3 23031 genome.wustl.edu 37 19 18260492 18260492 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 18260492 18260492 G A SNP MAST3 ENST00000262811 human ensembl 70_37 +1 known missense c.3886 p.E1296K 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 MATK 4145 genome.wustl.edu 37 19 3784450 3784450 + Splice_Site SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 3784450 3784450 C T SNP MATK ENST00000395045 human ensembl 70_37 -1 known splice_site c.136-1 e3-1 1.000 - - - no_errors MATK HGNC MBD3 53615 genome.wustl.edu 37 19 1578486 1578486 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 1578486 1578486 C T SNP MBD3 ENST00000156825 human ensembl 70_37 -1 known silent c.729 p.L243 1.000 superfamily_ARM-type_fold pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD3 HGNC MCF2L2 23101 genome.wustl.edu 37 3 183014773 183014773 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 183014773 183014773 G C SNP MCF2L2 ENST00000328913 human ensembl 70_37 -1 known silent c.1488 p.L496 0.131 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2L2 HGNC MCM3AP 8888 genome.wustl.edu 37 21 47690437 47690437 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 47690437 47690437 C A SNP MCM3AP ENST00000291688 human ensembl 70_37 -1 known nonsense c.2506 p.E836* 1.000 pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC MCTP2 55784 genome.wustl.edu 37 15 94945136 94945136 + Nonsense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 94945136 94945136 C G SNP MCTP2 ENST00000357742 human ensembl 70_37 +1 known nonsense c.1973 p.S658* 0.997 NULL pfam_C2_Ca-dep,pfam_PRibTrfase_C,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors MCTP2 HGNC MDH1B 130752 genome.wustl.edu 37 2 207619773 207619773 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 207619773 207619773 C T SNP MDH1B ENST00000374412 human ensembl 70_37 -1 known silent c.870 p.A290 0.942 pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C - no_errors MDH1B HGNC MDN1 23195 genome.wustl.edu 37 6 90382015 90382015 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 90382015 90382015 C T SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known silent c.13698 p.V4566 1.000 superfamily_ARM-type_fold,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 60038445 60038445 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 60038445 60038445 C T SNP MED13 ENST00000397786 human ensembl 70_37 -1 known missense c.5263 p.E1755K 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC MED13 9969 genome.wustl.edu 37 17 60039092 60039092 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 60039092 60039092 C T SNP MED13 ENST00000397786 human ensembl 70_37 -1 known missense c.5113 p.E1705K 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC MED13 9969 genome.wustl.edu 37 17 60059745 60059745 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 60059745 60059745 C G SNP MED13 ENST00000397786 human ensembl 70_37 -1 known missense c.3619 p.D1207H 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC MED13 9969 genome.wustl.edu 37 17 60059974 60059974 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 60059974 60059974 C T SNP MED13 ENST00000397786 human ensembl 70_37 -1 known missense c.3390 p.M1130I 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC MED13 9969 genome.wustl.edu 37 17 60060246 60060246 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 60060246 60060246 C G SNP MED13 ENST00000397786 human ensembl 70_37 -1 known missense c.3118 p.D1040H 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC MED15 51586 genome.wustl.edu 37 22 20940943 20940943 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 20940943 20940943 C T SNP MED15 ENST00000263205 human ensembl 70_37 +1 known silent c.2319 p.L773 1.000 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC MED17 9440 genome.wustl.edu 37 11 93517706 93517706 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 93517706 93517706 C T SNP MED17 ENST00000251871 human ensembl 70_37 +1 known silent c.27 p.I9 1.000 pfam_Mediator_Med17 pfam_Mediator_Med17 - no_errors MED17 HGNC MEG3 55384 genome.wustl.edu 37 14 101324774 101324774 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 101324774 101324774 C G SNP MEG3 ENST00000398460 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MEG3 HGNC MEIS3 56917 genome.wustl.edu 37 19 47910191 47910191 + Silent SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 47910191 47910191 G T SNP MEIS3 ENST00000559524 human ensembl 70_37 -1 known silent c.1170 p.I390 0.976 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors MEIS3 HGNC MEPCE 56257 genome.wustl.edu 37 7 100028248 100028248 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 100028248 100028248 G A SNP MEPCE ENST00000310512 human ensembl 70_37 +1 known missense c.607 p.E203K 1.000 NULL pfam_Bin3 - no_errors MEPCE HGNC MEPE 56955 genome.wustl.edu 37 4 88767936 88767936 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 88767936 88767936 C G SNP MEPE ENST00000508016 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MEPE HGNC METTL2A 339175 genome.wustl.edu 37 17 60505165 60505165 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 60505165 60505165 G A SNP METTL2A ENST00000311506 human ensembl 70_37 +1 known missense c.575 p.G192E 1.000 pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase_METTL2_prd pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase_METTL2_prd - no_errors METTL2A HGNC MEX3D 399664 genome.wustl.edu 37 19 1567479 1567479 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 1567479 1567479 C G SNP MEX3D ENST00000388824 human ensembl 70_37 -1 known missense c.579 p.E193D 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3D HGNC MFAP1 4236 genome.wustl.edu 37 15 44105255 44105255 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 44105255 44105255 C T SNP MFAP1 ENST00000267812 human ensembl 70_37 -1 known missense c.817 p.E273K 1.000 pfam_MFAP1_C pfam_MFAP1_C - no_errors MFAP1 HGNC MFAP3L 9848 genome.wustl.edu 37 4 170913057 170913057 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 170913057 170913057 G A SNP MFAP3L ENST00000361618 human ensembl 70_37 -1 known silent c.702 p.I234 0.982 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MFAP3L HGNC MFN1 55669 genome.wustl.edu 37 3 179082959 179082959 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 179082959 179082959 C T SNP MFN1 ENST00000263969 human ensembl 70_37 +1 known silent c.699 p.F233 0.992 pfam_Dynamin_GTPase pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase - no_errors MFN1 HGNC MFN1 55669 genome.wustl.edu 37 3 179082985 179082985 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 179082985 179082985 C G SNP MFN1 ENST00000263969 human ensembl 70_37 +1 known missense c.725 p.S242C 1.000 NULL pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase - no_errors MFN1 HGNC MGAT5B 146664 genome.wustl.edu 37 17 74902154 74902154 + Silent SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 74902154 74902154 C A SNP MGAT5B ENST00000428789 human ensembl 70_37 +1 known silent c.943 p.R315 0.586 NULL superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors MGAT5B HGNC MGAT5B 146664 genome.wustl.edu 37 17 74902205 74902205 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 74902205 74902205 C G SNP MGAT5B ENST00000428789 human ensembl 70_37 +1 known missense c.994 p.L332V 1.000 NULL superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors MGAT5B HGNC MIA3 375056 genome.wustl.edu 37 1 222803319 222803319 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 222803319 222803319 G C SNP MIA3 ENST00000344441 human ensembl 70_37 +1 known missense c.2757 p.K919N 0.000 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC MICA 100507436 genome.wustl.edu 37 6 31380161 31380161 + Frame_Shift_Del DEL G G - TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 31380161 31380161 G - DEL MICA ENST00000364810 human ensembl 70_37 +1 known frame_shift_del c.952 p.G318fs 0.000 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors MICA HGNC MID1 4281 genome.wustl.edu 37 X 10535234 10535234 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 10535234 10535234 G C SNP MID1 ENST00000317552 human ensembl 70_37 -1 known silent c.354 p.L118 1.000 smart_Znf_B-box 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,pfscan_Znf_RING,prints_Butyrophylin - no_errors MID1 HGNC MIIP 60672 genome.wustl.edu 37 1 12091427 12091427 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 12091427 12091427 G C SNP MIIP ENST00000235332 human ensembl 70_37 +1 known missense c.1047 p.Q349H 0.020 NULL NULL - no_errors MIIP HGNC MIR205HG 642587 genome.wustl.edu 37 1 209603832 209603832 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 209603832 209603832 C T SNP MIR205HG ENST00000419143 human ensembl 70_37 +1 known rna NULL NULL 0.052 - - - no_errors MIR205HG HGNC MIR3186 100422944 genome.wustl.edu 37 17 79418141 79418141 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 79418141 79418141 C T SNP MIR3186 ENST00000577404 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR3186 HGNC MIR3941 100500866 genome.wustl.edu 37 10 124176505 124176505 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 124176505 124176505 G C SNP MIR3941 ENST00000582572 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR3941 HGNC MIR518A1 574488 genome.wustl.edu 37 19 54234341 54234341 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 54234341 54234341 G C SNP MIR518A1 ENST00000385068 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors MIR518A1 HGNC MIR600HG 81571 genome.wustl.edu 37 9 125872650 125872650 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 125872650 125872650 C G SNP MIR600HG ENST00000449175 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR600HG HGNC MIR600HG 81571 genome.wustl.edu 37 9 125873068 125873068 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 125873068 125873068 C G SNP MIR600HG ENST00000449175 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR600HG HGNC MIR600HG 81571 genome.wustl.edu 37 9 125876611 125876611 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 125876611 125876611 C G SNP MIR600HG ENST00000449175 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR600HG HGNC MIR646 693231 genome.wustl.edu 37 20 58883613 58883613 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 58883613 58883613 C G SNP MIR646 ENST00000385067 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR646 HGNC MKS1 54903 genome.wustl.edu 37 17 56295993 56295993 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 56295993 56295993 G T SNP MKS1 ENST00000393119 human ensembl 70_37 -1 known missense c.178 p.Q60K 0.109 NULL pfam_B9_dom - no_errors MKS1 HGNC KMT2A 4297 genome.wustl.edu 37 11 118376214 118376214 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 118376214 118376214 G C SNP MLL ENST00000389506 human ensembl 70_37 +1 known missense c.9598 p.E3200Q 1.000 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors MLL HGNC KMT2A 4297 genome.wustl.edu 37 11 118390715 118390715 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 118390715 118390715 C T SNP MLL ENST00000389506 human ensembl 70_37 +1 known missense c.11356 p.R3786C 1.000 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors MLL HGNC KMT2C 58508 genome.wustl.edu 37 7 151877103 151877103 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 151877103 151877103 G C SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known missense c.7258 p.L2420V 0.802 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC KMT2B 9757 genome.wustl.edu 37 19 36220184 36220184 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 36220184 36220184 G A SNP MLL4 ENST00000222270 human ensembl 70_37 +1 known missense c.4904 p.R1635Q 1.000 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,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_CXXC - no_errors WBP7 Uniprot_genename KMT2E 55904 genome.wustl.edu 37 7 104752965 104752965 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 104752965 104752965 C G SNP MLL5 ENST00000257745 human ensembl 70_37 +1 known missense c.4762 p.Q1588E 1.000 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors MLL5 HGNC MMP16 4325 genome.wustl.edu 37 8 89180138 89180138 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 89180138 89180138 C G SNP MMP16 ENST00000286614 human ensembl 70_37 -1 known missense c.469 p.D157H 1.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP16 HGNC MOCOS 55034 genome.wustl.edu 37 18 33795780 33795780 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 33795780 33795780 C G SNP MOCOS ENST00000261326 human ensembl 70_37 +1 known missense c.1637 p.S546C 0.000 NULL pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,superfamily_Pyrv_Knase-like_insert_dom - no_errors MOCOS HGNC MPHOSPH8 54737 genome.wustl.edu 37 13 20224391 20224391 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 20224391 20224391 G A SNP MPHOSPH8 ENST00000414242 human ensembl 70_37 +1 known missense c.1567 p.E523K 0.895 NULL pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow - no_errors MPHOSPH8 HGNC MPP3 4356 genome.wustl.edu 37 17 41888516 41888516 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 41888516 41888516 G A SNP MPP3 ENST00000398389 human ensembl 70_37 -1 known missense c.1313 p.S438F 0.998 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin pfam_Guanylate_kin,pfam_L27_C,pfam_PDZ,pfam_SH3_2,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP3 HGNC MPP5 64398 genome.wustl.edu 37 14 67759227 67759227 + Splice_Site SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 67759227 67759227 G A SNP MPP5 ENST00000261681 human ensembl 70_37 +1 known splice_site c.368-1 e2-1 1.000 - - - no_errors MPP5 HGNC MPP5 64398 genome.wustl.edu 37 14 67759236 67759236 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 67759236 67759236 G A SNP MPP5 ENST00000261681 human ensembl 70_37 +1 known missense c.376 p.D126N 1.000 pfam_L27_N,smart_L27,pfscan_L27 pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP5 HGNC MPP5 64398 genome.wustl.edu 37 14 67759340 67759340 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 67759340 67759340 G A SNP MPP5 ENST00000261681 human ensembl 70_37 +1 known silent c.480 p.Q160 1.000 pfam_L27_N,smart_L27,pfscan_L27 pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP5 HGNC MPP7 143098 genome.wustl.edu 37 10 28358735 28358735 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 28358735 28358735 G A SNP MPP7 ENST00000337532 human ensembl 70_37 -1 known silent c.1170 p.I390 1.000 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin pfam_Guanylate_kin,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_SH3_domain - no_errors MPP7 HGNC MRC2 9902 genome.wustl.edu 37 17 60742246 60742246 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 60742246 60742246 G C SNP MRC2 ENST00000303375 human ensembl 70_37 +1 known missense c.456 p.Q152H 0.986 superfamily_Ricin_B_lectin,smart_Ricin_B_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC MRC2 9902 genome.wustl.edu 37 17 60751508 60751508 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 60751508 60751508 G A SNP MRC2 ENST00000303375 human ensembl 70_37 +1 known missense c.1546 p.E516K 0.927 NULL pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC MRE11A 4361 genome.wustl.edu 37 11 94204765 94204765 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 94204765 94204765 G C SNP MRE11A ENST00000323929 human ensembl 70_37 -1 known missense c.820 p.L274V 1.000 pfam_Mre11_DNA-bd,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11 pfam_Mre11_DNA-bd,pfam_Metallo_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11 - no_errors MRE11A HGNC MRPL43 84545 genome.wustl.edu 37 10 102746715 102746715 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 102746715 102746715 C A SNP MRPL43 ENST00000370242 human ensembl 70_37 -1 known nonsense c.256 p.E86* 1.000 pfam_Ribosome/NADH_DH,superfamily_Thioredoxin-like_fold,smart_Ribosome/NADH_DH pfam_Ribosome/NADH_DH,superfamily_Thioredoxin-like_fold,smart_Ribosome/NADH_DH - no_errors MRPL43 HGNC MRPS14 63931 genome.wustl.edu 37 1 174987559 174987559 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 174987559 174987559 G A SNP MRPS14 ENST00000476371 human ensembl 70_37 -1 known missense c.199 p.L67F 1.000 NULL pfam_Ribosomal_S14 - no_errors MRPS14 HGNC MRPS18C 51023 genome.wustl.edu 37 4 84380912 84380912 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 84380912 84380912 C G SNP MRPS18C ENST00000295491 human ensembl 70_37 +1 known missense c.254 p.S85C 1.000 pfam_Ribosomal_S18,superfamily_Ribosomal_S18,tigrfam_Ribosomal_S18 pfam_Ribosomal_S18,superfamily_Ribosomal_S18,tigrfam_Ribosomal_S18 - no_errors MRPS18C HGNC MRPS22 56945 genome.wustl.edu 37 3 139063526 139063526 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 139063526 139063526 G C SNP MRPS22 ENST00000478464 human ensembl 70_37 +1 putative missense c.15 p.E5D 0.005 NULL pfam_Ribosomal_S22_mit - no_errors MRPS22 HGNC MRTO4 51154 genome.wustl.edu 37 1 19584270 19584270 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 19584270 19584270 C T SNP MRTO4 ENST00000479559 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MRTO4 HGNC MS4A14 84689 genome.wustl.edu 37 11 60182921 60182921 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 60182921 60182921 C G SNP MS4A14 ENST00000300187 human ensembl 70_37 +1 known missense c.480 p.F160L 1.000 pfam_CD20-like pfam_CD20-like - no_errors MS4A14 HGNC MSN 4478 genome.wustl.edu 37 X 64958439 64958439 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 64958439 64958439 G A SNP MSN ENST00000360270 human ensembl 70_37 +1 known missense c.1304 p.R435Q 1.000 pirsf_ERM,pfam_ERM_C pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,pfscan_FERM_domain - no_errors MSN HGNC MSRA 4482 genome.wustl.edu 37 8 10102637 10102637 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 10102637 10102637 G A SNP MSRA ENST00000317173 human ensembl 70_37 +1 known missense c.235 p.E79K 1.000 pfam_Met_Sox_Rdtase_MsrA,superfamily_Met_Sox_Rdtase_MsrA,tigrfam_Met_Sox_Rdtase_MsrA pfam_Met_Sox_Rdtase_MsrA,superfamily_Met_Sox_Rdtase_MsrA,tigrfam_Met_Sox_Rdtase_MsrA - no_errors MSRA HGNC MST1 4485 genome.wustl.edu 37 3 49723520 49723520 + Silent SNP A A G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 49723520 49723520 A G SNP MST1 ENST00000449682 human ensembl 70_37 -1 known silent c.1122 p.R374 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors MST1 HGNC MST1L 11223 genome.wustl.edu 37 1 17087362 17087362 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 17087362 17087362 G C SNP MST1L ENST00000334998 human ensembl 70_37 -1 known missense c.222 p.F74L 1.000 pfam_PAN-1_domain,smart_Pan_app,smart_Kringle,pfscan_Pan_app pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors MST1L HGNC MSX1 4487 genome.wustl.edu 37 4 4864729 4864729 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 4864729 4864729 C T SNP MSX1 ENST00000382723 human ensembl 70_37 +1 known silent c.771 p.L257 0.092 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors MSX1 HGNC MTFR1 9650 genome.wustl.edu 37 8 66617086 66617086 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 66617086 66617086 C T SNP MTFR1 ENST00000262146 human ensembl 70_37 +1 known missense c.439 p.L147F 0.995 pfam_Mtfr1 pfam_Mtfr1 - no_errors MTFR1 HGNC MTHFD2 10797 genome.wustl.edu 37 2 74437150 74437150 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 74437150 74437150 C T SNP MTHFD2 ENST00000394053 human ensembl 70_37 +1 known missense c.644 p.T215I 1.000 pfam_THF_DH/CycHdrlase_NAD-bd_dom pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD2 HGNC MTOR 2475 genome.wustl.edu 37 1 11174420 11174420 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 11174420 11174420 C T SNP MTOR ENST00000361445 human ensembl 70_37 -1 known missense c.7255 p.E2419K 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_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 MUC1 4582 genome.wustl.edu 37 1 155161913 155161913 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 155161913 155161913 G C SNP MUC1 ENST00000425082 human ensembl 70_37 -1 known missense c.220 p.Q74E 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC1 HGNC MUC12 10071 genome.wustl.edu 37 7 100634191 100634191 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 100634191 100634191 C T SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known missense c.776 p.S259L 0.050 NULL pfam_SEA - no_errors MUC12 HGNC MUC13 56667 genome.wustl.edu 37 3 124642461 124642461 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 124642461 124642461 C G SNP MUC13 ENST00000311075 human ensembl 70_37 -1 known missense c.547 p.D183H 0.001 superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom pfam_SEA,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom - no_errors MUC13 HGNC MUC17 140453 genome.wustl.edu 37 7 100686385 100686385 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 100686385 100686385 G C SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known silent c.11688 p.S3896 0.124 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC MUC4 4585 genome.wustl.edu 37 3 195474048 195474048 + Nonstop_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 195474048 195474048 C G SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known nonstop c.16238 p.*5413S 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC4 4585 genome.wustl.edu 37 3 195474200 195474200 + Silent SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 195474200 195474200 C A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known silent c.16086 p.L5362 0.965 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 195515356 195515356 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 195515356 195515356 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.3095 p.S1032L 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC5B 727897 genome.wustl.edu 37 11 1269671 1269671 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 1269671 1269671 C A SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.11570 p.S3857Y 0.009 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,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 MUC5B HGNC MUC5B 727897 genome.wustl.edu 37 11 1270922 1270922 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 1270922 1270922 C G SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.12821 p.S4274C 0.001 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,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 MUC5B HGNC MUC5B 727897 genome.wustl.edu 37 11 1271112 1271112 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 1271112 1271112 C T SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known silent c.13011 p.T4337 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,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 MUC5B HGNC MUC5B 727897 genome.wustl.edu 37 11 1271258 1271258 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 1271258 1271258 C T SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.13157 p.S4386F 0.024 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,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 MUC5B HGNC MUL1 79594 genome.wustl.edu 37 1 20827823 20827823 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 20827823 20827823 C T SNP MUL1 ENST00000264198 human ensembl 70_37 -1 known missense c.419 p.R140Q 1.000 pfam_GIDE pfam_GIDE,pfscan_Znf_RING - no_errors MUL1 HGNC MYADML 151325 genome.wustl.edu 37 2 33953103 33953103 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 33953103 33953103 G A SNP MYADML ENST00000474610 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors MYADML HGNC MYF6 4618 genome.wustl.edu 37 12 81102693 81102693 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 81102693 81102693 C G SNP MYF6 ENST00000228641 human ensembl 70_37 +1 known missense c.683 p.S228W 0.974 NULL pfam_Basic,pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,smart_HLH_dom,pfscan_HLH_dom - no_errors MYF6 HGNC MYH1 4619 genome.wustl.edu 37 17 10398307 10398307 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 10398307 10398307 C T SNP MYH1 ENST00000226207 human ensembl 70_37 -1 known missense c.5407 p.E1803K 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC MYH10 4628 genome.wustl.edu 37 17 8445559 8445559 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 8445559 8445559 C G SNP MYH10 ENST00000396239 human ensembl 70_37 -1 known missense c.1441 p.E481Q 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC MYH13 8735 genome.wustl.edu 37 17 10213054 10213054 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 10213054 10213054 C T SNP MYH13 ENST00000252172 human ensembl 70_37 -1 known missense c.4750 p.D1584N 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC MYH2 4620 genome.wustl.edu 37 17 10430338 10430338 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 10430338 10430338 G A SNP MYH2 ENST00000245503 human ensembl 70_37 -1 known silent c.3907 p.L1303 0.330 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC MYH7 4625 genome.wustl.edu 37 14 23896894 23896894 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 23896894 23896894 C G SNP MYH7 ENST00000355349 human ensembl 70_37 -1 known missense c.1788 p.K596N 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC MYH7 4625 genome.wustl.edu 37 14 23899789 23899789 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 23899789 23899789 C T SNP MYH7 ENST00000355349 human ensembl 70_37 -1 known missense c.979 p.E327K 0.997 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC MYH9 4627 genome.wustl.edu 37 22 36697735 36697735 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 36697735 36697735 G A SNP MYH9 ENST00000495928 human ensembl 70_37 -1 putative rna NULL NULL 0.002 - - - no_errors MYH9 HGNC MYO15A 51168 genome.wustl.edu 37 17 18061908 18061908 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 18061908 18061908 C G SNP MYO15A ENST00000205890 human ensembl 70_37 +1 known silent c.9039 p.L3013 0.888 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC MYO16 23026 genome.wustl.edu 37 13 109445889 109445889 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 109445889 109445889 G C SNP MYO16 ENST00000356711 human ensembl 70_37 +1 known missense c.576 p.Q192H 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC MYO19 80179 genome.wustl.edu 37 17 34856777 34856777 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 34856777 34856777 C T SNP MYO19 ENST00000431794 human ensembl 70_37 -1 known missense c.2270 p.R757H 0.988 smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO19 HGNC MYO19 80179 genome.wustl.edu 37 17 34856921 34856921 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 34856921 34856921 C T SNP MYO19 ENST00000431794 human ensembl 70_37 -1 known missense c.2235 p.M745I 1.000 smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO19 HGNC MYO1D 4642 genome.wustl.edu 37 17 30980882 30980882 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 30980882 30980882 G C SNP MYO1D ENST00000318217 human ensembl 70_37 -1 known silent c.2574 p.L858 1.000 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1D HGNC MYO9A 4649 genome.wustl.edu 37 15 72252262 72252262 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 72252262 72252262 C T SNP MYO9A ENST00000424560 human ensembl 70_37 -1 known missense c.2162 p.R721K 1.000 smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC MYOCD 93649 genome.wustl.edu 37 17 12656108 12656108 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 12656108 12656108 G A SNP MYOCD ENST00000425538 human ensembl 70_37 +1 known silent c.1503 p.L501 0.711 NULL pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd - no_errors MYOCD HGNC MYOD1 4654 genome.wustl.edu 37 11 17741623 17741623 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 17741623 17741623 C T SNP MYOD1 ENST00000250003 human ensembl 70_37 +1 known silent c.294 p.C98 1.000 pfam_Basic,smart_Basic pfam_Basic,pfam_Myf5,pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,smart_HLH_dom,pfscan_HLH_dom - no_errors MYOD1 HGNC MYOG 4656 genome.wustl.edu 37 1 203054799 203054799 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 203054799 203054799 C T SNP MYOG ENST00000241651 human ensembl 70_37 -1 known silent c.291 p.V97 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_Basic,pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,smart_HLH_dom,pfscan_HLH_dom - no_errors MYOG HGNC MYOG 4656 genome.wustl.edu 37 1 203055086 203055086 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 203055086 203055086 C G SNP MYOG ENST00000241651 human ensembl 70_37 -1 known missense c.4 p.E2Q 1.000 pfam_Basic,smart_Basic pfam_Basic,pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,smart_HLH_dom,pfscan_HLH_dom - no_errors MYOG HGNC MYT1L 23040 genome.wustl.edu 37 2 1920995 1920995 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 1920995 1920995 C A SNP MYT1L ENST00000399161 human ensembl 70_37 -1 known missense c.1600 p.D534Y 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC NAA16 79612 genome.wustl.edu 37 13 41947823 41947823 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 41947823 41947823 G A SNP NAA16 ENST00000379406 human ensembl 70_37 +1 known missense c.2206 p.E736K 1.000 pirsf_NatA_aux_su pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR-1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA16 HGNC NAA25 80018 genome.wustl.edu 37 12 112492280 112492280 + Nonsense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 112492280 112492280 G A SNP NAA25 ENST00000261745 human ensembl 70_37 -1 known nonsense c.1540 p.R514* 1.000 pfam_N-acetylTrfase_B_cplx_non-cat pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC NAAA 27163 genome.wustl.edu 37 4 76842147 76842147 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 76842147 76842147 C G SNP NAAA ENST00000286733 human ensembl 70_37 -1 known missense c.796 p.D266H 0.050 pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like - no_errors NAAA HGNC NAIF1 203245 genome.wustl.edu 37 9 130829080 130829080 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 130829080 130829080 C A SNP NAIF1 ENST00000373078 human ensembl 70_37 -1 known nonsense c.301 p.E101* 1.000 NULL NULL - no_errors NAIF1 HGNC NALCN 259232 genome.wustl.edu 37 13 101735534 101735534 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 101735534 101735534 C T SNP NALCN ENST00000251127 human ensembl 70_37 -1 known missense c.3599 p.R1200K 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC NANP 140838 genome.wustl.edu 37 20 25596592 25596592 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 25596592 25596592 C G SNP NANP ENST00000304788 human ensembl 70_37 -1 known missense c.716 p.S239T 0.040 superfamily_HAD-like_dom pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_Haloacid_DH/epoxide_hydro,tigrfam_HAD-SF_hydro_IA_CTE7,tigrfam_HAD-SF_hydro_IA_v1 - no_errors NANP HGNC NAP1L3 4675 genome.wustl.edu 37 X 92927910 92927910 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 92927910 92927910 G C SNP NAP1L3 ENST00000373079 human ensembl 70_37 -1 known missense c.394 p.L132V 0.999 pfam_NAP_family pfam_NAP_family - no_errors NAP1L3 HGNC NAPRT1 93100 genome.wustl.edu 37 8 144657091 144657091 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 144657091 144657091 G C SNP NAPRT1 ENST00000276844 human ensembl 70_37 -1 known missense c.1618 p.P540A 0.000 superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-rel pfam_Nic_PRibTrfase-like,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-rel,tigrfam_Nic_PRibTrfase_put - no_errors NAPRT1 HGNC NAT8 9027 genome.wustl.edu 37 2 73868743 73868743 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 73868743 73868743 G C SNP NAT8 ENST00000272425 human ensembl 70_37 -1 known missense c.13 p.H5D 0.538 NULL pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT8 HGNC NAV2 89797 genome.wustl.edu 37 11 19970352 19970352 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 19970352 19970352 C T SNP NAV2 ENST00000396087 human ensembl 70_37 +1 known missense c.2440 p.R814W 1.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC NBPF10 100132406 genome.wustl.edu 37 1 145304593 145304593 + Nonsense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 145304593 145304593 C G SNP NBPF10 ENST00000342960 human ensembl 70_37 +1 known nonsense c.1526 p.S509* 0.000 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF10 HGNC NCKAP1L 3071 genome.wustl.edu 37 12 54929976 54929976 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 54929976 54929976 C T SNP NCKAP1L ENST00000293373 human ensembl 70_37 +1 known missense c.3020 p.S1007F 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd - no_errors NCKAP1L HGNC NCKAP5L 57701 genome.wustl.edu 37 12 50195664 50195664 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 50195664 50195664 C T SNP NCKAP5L ENST00000335999 human ensembl 70_37 -1 known silent c.318 p.Q106 1.000 NULL NULL - no_errors NCKAP5L HGNC NCR3LG1 374383 genome.wustl.edu 37 11 17388562 17388562 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 17388562 17388562 C T SNP NCR3LG1 ENST00000530403 human ensembl 70_37 +1 known missense c.428 p.P143L 0.248 pfscan_Ig-like pfam_Ig_C1-set,pfam_G_retro_matrix_N,pfam_CD80_C2-set,superfamily_Retrovr_matrix_N,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like - no_errors NCR3LG1 HGNC NDNF 79625 genome.wustl.edu 37 4 121966894 121966894 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 121966894 121966894 C G SNP NDNF ENST00000379692 human ensembl 70_37 -1 known missense c.99 p.Q33H 1.000 NULL pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors NDNF HGNC NDUFS2 4720 genome.wustl.edu 37 1 161184059 161184060 + RNA INS - - TGTG TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 161184059 161184060 - TGTG INS NDUFS2 ENST00000465923 human ensembl 70_37 +1 known rna NULL NULL 0.811:0.953 - - - no_errors NDUFS2 HGNC NEBL 10529 genome.wustl.edu 37 10 21097533 21097533 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 21097533 21097533 G A SNP NEBL ENST00000377122 human ensembl 70_37 -1 known silent c.2667 p.F889 0.979 NULL pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC NEBL 10529 genome.wustl.edu 37 10 21098823 21098823 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 21098823 21098823 G A SNP NEBL ENST00000377122 human ensembl 70_37 -1 known silent c.2523 p.L841 0.993 NULL pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC NEDD4L 23327 genome.wustl.edu 37 18 56024425 56024425 + Splice_Site SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 56024425 56024425 G A SNP NEDD4L ENST00000400345 human ensembl 70_37 +1 known splice_site c.1709-1 e19-1 1.000 - - - no_errors NEDD4L HGNC NEFH 4744 genome.wustl.edu 37 22 29879471 29879471 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 29879471 29879471 G A SNP NEFH ENST00000310624 human ensembl 70_37 +1 known missense c.991 p.E331K 1.000 pfam_F pfam_F,pfam_DUF1388 - no_errors NEFH HGNC NEK3 4752 genome.wustl.edu 37 13 52730376 52730376 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 52730376 52730376 C G SNP NEK3 ENST00000452082 human ensembl 70_37 -1 known missense c.14 p.R5T 0.005 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK3 HGNC NEK9 91754 genome.wustl.edu 37 14 75573250 75573250 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 75573250 75573250 G A SNP NEK9 ENST00000238616 human ensembl 70_37 -1 known silent c.1483 p.L495 0.997 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens pfam_Prot_kinase_cat_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK9 HGNC NSMF 26012 genome.wustl.edu 37 9 140347293 140347293 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 140347293 140347293 C G SNP NELF ENST00000371482 human ensembl 70_37 -1 known silent c.18 p.L6 0.020 NULL NULL - no_errors NELF HGNC NETO1 81832 genome.wustl.edu 37 18 70417642 70417642 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 70417642 70417642 C G SNP NETO1 ENST00000327305 human ensembl 70_37 -1 known missense c.1196 p.R399T 1.000 NULL pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt - no_errors NETO1 HGNC NEURL2 140825 genome.wustl.edu 37 20 44517472 44517472 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 44517472 44517472 C T SNP NEURL2 ENST00000372518 human ensembl 70_37 -1 known silent c.783 p.R261 0.988 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_Neu_Z,pfam_SOCS_C,smart_Neu_Z,smart_SOCS_C,pfscan_Neu_Z,pfscan_SOCS_C - no_errors NEURL2 HGNC NFX1 4799 genome.wustl.edu 37 9 33347041 33347041 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 33347041 33347041 C G SNP NFX1 ENST00000379540 human ensembl 70_37 +1 known missense c.2350 p.H784D 1.000 smart_Znf_NFX1 pfam_Znf_NFX1,pfam_R3H_ss-bd,smart_Znf_RING,smart_Znf_NFX1,smart_R3H_ss-bd,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_R3H_ss-bd - no_errors NFX1 HGNC NHLRC2 374354 genome.wustl.edu 37 10 115661612 115661612 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 115661612 115661612 G C SNP NHLRC2 ENST00000369301 human ensembl 70_37 +1 known missense c.1327 p.D443H 1.000 NULL pfam_NHL_repeat,superfamily_Thioredoxin-like_fold,pfscan_NHL_repeat_subgr - no_errors NHLRC2 HGNC NINL 22981 genome.wustl.edu 37 20 25460854 25460854 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 25460854 25460854 C G SNP NINL ENST00000278886 human ensembl 70_37 -1 known silent c.1860 p.L620 0.024 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NINL HGNC NIPA2 81614 genome.wustl.edu 37 15 23014466 23014466 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 23014466 23014466 G C SNP NIPA2 ENST00000337451 human ensembl 70_37 -1 known missense c.259 p.P87A 1.000 pfam_Mg_trans_NIPA,pfam_DMT pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPA2 HGNC NIPAL1 152519 genome.wustl.edu 37 4 48037979 48037979 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 48037979 48037979 G C SNP NIPAL1 ENST00000295461 human ensembl 70_37 +1 known silent c.1023 p.L341 1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPAL1 HGNC NLRC4 58484 genome.wustl.edu 37 2 32463279 32463279 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 32463279 32463279 G A SNP NLRC4 ENST00000360906 human ensembl 70_37 -1 known silent c.2443 p.L815 0.414 NULL pfam_CARD,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NLRC4 HGNC NLRC5 84166 genome.wustl.edu 37 16 57059957 57059957 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 57059957 57059957 G C SNP NLRC5 ENST00000262510 human ensembl 70_37 +1 known missense c.1102 p.D368H 0.952 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC NLRP1 22861 genome.wustl.edu 37 17 5424242 5424242 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 5424242 5424242 C A SNP NLRP1 ENST00000572272 human ensembl 70_37 -1 known missense c.3874 p.V1292L 0.021 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC NLRP13 126204 genome.wustl.edu 37 19 56422086 56422086 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 56422086 56422086 C G SNP NLRP13 ENST00000342929 human ensembl 70_37 -1 known missense c.2125 p.D709H 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC NLRP2 55655 genome.wustl.edu 37 19 55494074 55494074 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 55494074 55494074 G A SNP NLRP2 ENST00000448584 human ensembl 70_37 +1 known silent c.1008 p.T336 0.002 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP2 HGNC NLRP4 147945 genome.wustl.edu 37 19 56369819 56369819 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 56369819 56369819 G A SNP NLRP4 ENST00000301295 human ensembl 70_37 +1 known missense c.1060 p.E354K 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC NLRP4 147945 genome.wustl.edu 37 19 56369832 56369833 + Frame_Shift_Ins INS - - A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 56369832 56369833 - A INS NLRP4 ENST00000301295 human ensembl 70_37 +1 known frame_shift_ins c.1073_1074 p.D360fs 0.357:0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC NLRP4 147945 genome.wustl.edu 37 19 56369837 56369837 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 56369837 56369837 G A SNP NLRP4 ENST00000301295 human ensembl 70_37 +1 known missense c.1078 p.D360N 0.621 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC NLRP4 147945 genome.wustl.edu 37 19 56369915 56369915 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 56369915 56369915 G T SNP NLRP4 ENST00000301295 human ensembl 70_37 +1 known nonsense c.1156 p.E386* 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC NLRX1 79671 genome.wustl.edu 37 11 119050945 119050945 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 119050945 119050945 C T SNP NLRX1 ENST00000292199 human ensembl 70_37 +1 known missense c.2215 p.P739S 0.030 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC NLRX1 79671 genome.wustl.edu 37 11 119050953 119050953 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 119050953 119050953 G C SNP NLRX1 ENST00000292199 human ensembl 70_37 +1 known silent c.2223 p.G741 0.703 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC NLRX1 79671 genome.wustl.edu 37 11 119052817 119052817 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 119052817 119052817 C T SNP NLRX1 ENST00000292199 human ensembl 70_37 +1 known missense c.2369 p.P790L 0.997 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC NOC3L 64318 genome.wustl.edu 37 10 96100229 96100229 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 96100229 96100229 G A SNP NOC3L ENST00000371350 human ensembl 70_37 -1 known missense c.1669 p.H557Y 1.000 pfam_CCAAT-binding_factor,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3 pfam_CCAAT-binding_factor,pfam_NOC3p,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3 - no_errors NOC3L HGNC NOC3L 64318 genome.wustl.edu 37 10 96117815 96117815 + RNA SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 96117815 96117815 G T SNP NOC3L ENST00000463649 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors NOC3L HGNC NODAL 4838 genome.wustl.edu 37 10 72195141 72195141 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 72195141 72195141 C A SNP NODAL ENST00000287139 human ensembl 70_37 -1 known missense c.792 p.W264C 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors NODAL HGNC NOL11 25926 genome.wustl.edu 37 17 65717632 65717632 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 65717632 65717632 G A SNP NOL11 ENST00000253247 human ensembl 70_37 +1 known missense c.451 p.E151K 1.000 NULL pfam_NUC205 - no_errors NOL11 HGNC NONO 4841 genome.wustl.edu 37 X 70517280 70517280 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 70517280 70517280 G T SNP NONO ENST00000276079 human ensembl 70_37 +1 known nonsense c.997 p.E333* 1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors NONO HGNC NOTCH1 4851 genome.wustl.edu 37 9 139413262 139413262 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 139413262 139413262 C T SNP NOTCH1 ENST00000277541 human ensembl 70_37 -1 known missense c.880 p.E294K 0.998 pirsf_Notch pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC NOTCH4 4855 genome.wustl.edu 37 6 32163434 32163434 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 32163434 32163434 C T SNP NOTCH4 ENST00000375023 human ensembl 70_37 -1 known missense c.5792 p.R1931Q 0.001 pirsf_Notch pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom - no_errors NOTCH4 HGNC NOX4 50507 genome.wustl.edu 37 11 89155129 89155129 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 89155129 89155129 G A SNP NOX4 ENST00000413594 human ensembl 70_37 -1 known silent c.633 p.F211 1.000 pfam_Fe3_Rdtase_TM_dom pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX4 HGNC NPEPPS 9520 genome.wustl.edu 37 17 45608819 45608819 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 45608819 45608819 C G SNP NPEPPS ENST00000322157 human ensembl 70_37 +1 known missense c.153 p.F51L 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors NPEPPS HGNC NPIPB3 23117 genome.wustl.edu 37 16 21416144 21416144 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 21416144 21416144 C T SNP NPIPL3 ENST00000447737 human ensembl 70_37 -1 known silent c.747 p.E249 0.008 pfam_NPIP pfam_NPIP - no_errors NPIPL3 HGNC NPL 80896 genome.wustl.edu 37 1 182798813 182798813 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 182798813 182798813 G A SNP NPL ENST00000367552 human ensembl 70_37 +1 known silent c.722 p.*241 0.040 NULL pfam_Dihydrodipicolinate_synth-like,prints_Dihydrodipicolinate_synth-like - no_errors NPL HGNC NPR1 4881 genome.wustl.edu 37 1 153665889 153665889 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 153665889 153665889 G A SNP NPR1 ENST00000368680 human ensembl 70_37 +1 known silent c.3185 p.*1062 1.000 NULL pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase,prints_Ntpep_rcpt - no_errors NPR1 HGNC NPR3 4883 genome.wustl.edu 37 5 32712325 32712325 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 32712325 32712325 C T SNP NPR3 ENST00000265074 human ensembl 70_37 +1 known missense c.443 p.S148L 0.980 pfam_ANF_lig-bd_rcpt,prints_Ntpep_rcpt pfam_ANF_lig-bd_rcpt,prints_Ntpep_rcpt - no_errors NPR3 HGNC NR1H3 10062 genome.wustl.edu 37 11 47270221 47270221 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 47270221 47270221 C T SNP NR1H3 ENST00000495866 human ensembl 70_37 +1 known rna NULL NULL 0.901 - - - no_errors NR1H3 HGNC NR2C1 7181 genome.wustl.edu 37 12 95422265 95422265 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 95422265 95422265 C G SNP NR2C1 ENST00000333003 human ensembl 70_37 -1 known missense c.1429 p.E477Q 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core 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_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C1 HGNC NRG3 10718 genome.wustl.edu 37 10 84733553 84733553 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 84733553 84733553 G T SNP NRG3 ENST00000404547 human ensembl 70_37 +1 known missense c.1294 p.V432L 1.000 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC NRXN1 9378 genome.wustl.edu 37 2 51255238 51255238 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 51255238 51255238 G C SNP NRXN1 ENST00000402717 human ensembl 70_37 -1 known silent c.174 p.L58 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC NT5C3B 115024 genome.wustl.edu 37 17 39988679 39988679 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 39988679 39988679 C T SNP NT5C3L ENST00000269534 human ensembl 70_37 -1 known silent c.255 p.R85 0.002 pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu - no_errors NT5C3L HGNC NUDT19 390916 genome.wustl.edu 37 19 33202660 33202660 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 33202660 33202660 G A SNP NUDT19 ENST00000397061 human ensembl 70_37 +1 novel missense c.925 p.D309N 1.000 NULL pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT19 HGNC NUDT6 11162 genome.wustl.edu 37 4 123843699 123843699 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 123843699 123843699 C T SNP NUDT6 ENST00000304430 human ensembl 70_37 -1 known nonsense c.29 p.W10* 0.070 NULL pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase6-like - no_errors NUDT6 HGNC NUP155 9631 genome.wustl.edu 37 5 37310788 37310788 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 37310788 37310788 C G SNP NUP155 ENST00000231498 human ensembl 70_37 -1 known missense c.2494 p.E832Q 1.000 pfam_Nucleoporin_Nup133/Nup155_C pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom - no_errors NUP155 HGNC NUP155 9631 genome.wustl.edu 37 5 37331856 37331856 + Silent SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 37331856 37331856 C A SNP NUP155 ENST00000231498 human ensembl 70_37 -1 known silent c.1560 p.L520 1.000 NULL pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom - no_errors NUP155 HGNC NUP155 9631 genome.wustl.edu 37 5 37341221 37341221 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 37341221 37341221 G C SNP NUP155 ENST00000231498 human ensembl 70_37 -1 known nonsense c.1217 p.S406* 1.000 pfam_Nucleoporin_Nup133/Nup155_N pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom - no_errors NUP155 HGNC NUP210L 91181 genome.wustl.edu 37 1 154031136 154031136 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 154031136 154031136 C A SNP NUP210L ENST00000368559 human ensembl 70_37 -1 known nonsense c.2884 p.E962* 1.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC NUP88 4927 genome.wustl.edu 37 17 5290743 5290743 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 5290743 5290743 C T SNP NUP88 ENST00000573584 human ensembl 70_37 -1 known missense c.1879 p.E627K 1.000 pfam_Nucleoporin_Nup88 pfam_Nucleoporin_Nup88 - no_errors NUP88 HGNC NUP88 4927 genome.wustl.edu 37 17 5322971 5322971 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 5322971 5322971 C G SNP NUP88 ENST00000572019 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors NUP88 HGNC NXF1 10482 genome.wustl.edu 37 11 62571010 62571010 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 62571010 62571010 C T SNP NXF1 ENST00000294172 human ensembl 70_37 -1 known missense c.250 p.D84N 0.406 NULL pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF1 HGNC NXF1 10482 genome.wustl.edu 37 11 62571336 62571336 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 62571336 62571336 C T SNP NXF1 ENST00000294172 human ensembl 70_37 -1 known missense c.143 p.R48Q 0.070 NULL pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF1 HGNC NXF1 10482 genome.wustl.edu 37 11 62571352 62571352 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 62571352 62571352 C T SNP NXF1 ENST00000294172 human ensembl 70_37 -1 known missense c.127 p.G43S 1.000 NULL pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF1 HGNC NXF1 10482 genome.wustl.edu 37 11 62571445 62571445 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 62571445 62571445 C G SNP NXF1 ENST00000294172 human ensembl 70_37 -1 known missense c.34 p.D12H 1.000 NULL pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF1 HGNC NXF1 10482 genome.wustl.edu 37 11 62572855 62572855 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 62572855 62572855 C T SNP NXF1 ENST00000526163 human ensembl 70_37 -1 known rna NULL NULL 0.008 - - - no_errors NXF1 HGNC NXT2 55916 genome.wustl.edu 37 X 108781313 108781313 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 108781313 108781313 G C SNP NXT2 ENST00000218004 human ensembl 70_37 +1 known missense c.220 p.E74Q 1.000 pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk - no_errors NXT2 HGNC NXT2 55916 genome.wustl.edu 37 X 108785781 108785781 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 108785781 108785781 G T SNP NXT2 ENST00000218004 human ensembl 70_37 +1 known missense c.458 p.G153V 1.000 pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk - no_errors NXT2 HGNC OAS2 4939 genome.wustl.edu 37 12 113442962 113442962 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 113442962 113442962 C G SNP OAS2 ENST00000342315 human ensembl 70_37 +1 known missense c.1403 p.S468C 0.011 NULL pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS2 HGNC OBSL1 23363 genome.wustl.edu 37 2 220418361 220418361 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 220418361 220418361 C T SNP OBSL1 ENST00000404537 human ensembl 70_37 -1 known missense c.4924 p.E1642K 0.998 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors OBSL1 HGNC OBSL1 23363 genome.wustl.edu 37 2 220420784 220420784 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 220420784 220420784 C G SNP OBSL1 ENST00000404537 human ensembl 70_37 -1 known missense c.4567 p.E1523Q 0.999 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors OBSL1 HGNC OCRL 4952 genome.wustl.edu 37 X 128722897 128722897 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 128722897 128722897 C G SNP OCRL ENST00000371113 human ensembl 70_37 +1 known silent c.2376 p.L792 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom 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 OLFML3 56944 genome.wustl.edu 37 1 114523274 114523274 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 114523274 114523274 C G SNP OLFML3 ENST00000491700 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors OLFML3 HGNC ONECUT2 9480 genome.wustl.edu 37 18 55103898 55103898 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 55103898 55103898 C A SNP ONECUT2 ENST00000262095 human ensembl 70_37 +1 known nonsense c.950 p.S317* 1.000 superfamily_Lambda_DNA-bd_dom pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors ONECUT2 HGNC OPCML 4978 genome.wustl.edu 37 11 133402239 133402239 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 133402239 133402239 C T SNP OPCML ENST00000529038 human ensembl 70_37 -1 known rna NULL NULL 0.312 - - - no_errors OPCML HGNC OPLAH 26873 genome.wustl.edu 37 8 145114648 145114648 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 145114648 145114648 G A SNP OPLAH ENST00000426825 human ensembl 70_37 -1 known rna NULL NULL 0.163 - - - no_errors OPLAH HGNC OPN3 23596 genome.wustl.edu 37 1 241753449 241753449 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 241753449 241753449 G A SNP OPN3 ENST00000462265 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors OPN3 HGNC OPRM1 4988 genome.wustl.edu 37 6 154412492 154412492 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 154412492 154412492 G T SNP OPRM1 ENST00000434900 human ensembl 70_37 +1 known missense c.1328 p.R443I 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_Somatstn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt,prints_P2_purnocptor,prints_NPY_rcpt - no_errors OPRM1 HGNC OR10J5 127385 genome.wustl.edu 37 1 159505756 159505756 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 159505756 159505756 G A SNP OR10J5 ENST00000334857 human ensembl 70_37 -1 known silent c.42 p.F14 0.619 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J5 HGNC OR10R2 343406 genome.wustl.edu 37 1 158449973 158449973 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 158449973 158449973 C T SNP OR10R2 ENST00000368152 human ensembl 70_37 +1 known silent c.306 p.L102 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10R2 HGNC OR13F1 138805 genome.wustl.edu 37 9 107267221 107267221 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 107267221 107267221 G C SNP OR13F1 ENST00000334726 human ensembl 70_37 +1 known silent c.678 p.L226 0.034 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13F1 HGNC OR2T10 127069 genome.wustl.edu 37 1 248756599 248756599 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 248756599 248756599 G A SNP OR2T10 ENST00000330500 human ensembl 70_37 -1 known silent c.471 p.F157 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T10 HGNC OR4L1 122742 genome.wustl.edu 37 14 20528220 20528220 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 20528220 20528220 G C SNP OR4L1 ENST00000315683 human ensembl 70_37 +1 known missense c.17 p.G6A 0.017 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4L1 HGNC OR51B5 282763 genome.wustl.edu 37 11 5364101 5364101 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 5364101 5364101 C G SNP OR51B5 ENST00000300773 human ensembl 70_37 -1 known missense c.654 p.L218F 0.011 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51B5 HGNC OR51D1 390038 genome.wustl.edu 37 11 4661593 4661593 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 4661593 4661593 C A SNP OR51D1 ENST00000357605 human ensembl 70_37 +1 known missense c.573 p.F191L 0.997 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51D1 HGNC OR52A5 390054 genome.wustl.edu 37 11 5153017 5153017 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 5153017 5153017 C T SNP OR52A5 ENST00000307388 human ensembl 70_37 -1 known missense c.856 p.V286I 0.077 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52A5 HGNC OR5AN1 390195 genome.wustl.edu 37 11 59132687 59132687 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 59132687 59132687 C A SNP OR5AN1 ENST00000313940 human ensembl 70_37 +1 known missense c.756 p.F252L 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AN1 HGNC OR5B3 441608 genome.wustl.edu 37 11 58170013 58170013 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 58170013 58170013 C G SNP OR5B3 ENST00000309403 human ensembl 70_37 -1 known silent c.870 p.L290 0.985 pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5B3 HGNC OR5L2 26338 genome.wustl.edu 37 11 55594997 55594997 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 55594997 55594997 C T SNP OR5L2 ENST00000378397 human ensembl 70_37 +1 known silent c.303 p.F101 0.989 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L2 HGNC OR6S1 341799 genome.wustl.edu 37 14 21109728 21109728 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 21109728 21109728 C G SNP OR6S1 ENST00000320704 human ensembl 70_37 -1 known silent c.123 p.L41 0.027 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6S1 HGNC OR8B8 26493 genome.wustl.edu 37 11 124310324 124310324 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 124310324 124310324 G C SNP OR8B8 ENST00000328064 human ensembl 70_37 -1 putative missense c.658 p.L220V 0.719 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8B8 HGNC OR8D1 283159 genome.wustl.edu 37 11 124180503 124180503 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 124180503 124180503 G C SNP OR8D1 ENST00000357821 human ensembl 70_37 -1 known missense c.160 p.L54V 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D1 HGNC ORC2 4999 genome.wustl.edu 37 2 201791584 201791584 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 201791584 201791584 C T SNP ORC2 ENST00000234296 human ensembl 70_37 -1 known silent c.957 p.K319 1.000 pfam_ORC2 pfam_ORC2 - no_errors ORC2 HGNC OSBPL5 114879 genome.wustl.edu 37 11 3114171 3114171 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 3114171 3114171 C G SNP OSBPL5 ENST00000263650 human ensembl 70_37 -1 known missense c.2058 p.E686D 0.742 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL5 HGNC OTOA 146183 genome.wustl.edu 37 16 21721391 21721391 + Silent SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 21721391 21721391 C A SNP OTOA ENST00000286149 human ensembl 70_37 +1 known silent c.1329 p.I443 1.000 NULL NULL - no_errors OTOA HGNC OTUD7B 56957 genome.wustl.edu 37 1 149919220 149919220 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 149919220 149919220 C G SNP OTUD7B ENST00000369135 human ensembl 70_37 -1 known missense c.1255 p.E419Q 1.000 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7B HGNC OVOL3 728361 genome.wustl.edu 37 19 36602321 36602321 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 36602321 36602321 G A SNP OVOL3 ENST00000262637 human ensembl 70_37 +1 known missense c.145 p.D49N 0.669 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OVOL3 HGNC OXGR1 27199 genome.wustl.edu 37 13 97639486 97639486 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 97639486 97639486 G C SNP OXGR1 ENST00000298440 human ensembl 70_37 -1 known missense c.528 p.N176K 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors OXGR1 HGNC P2RX4 5025 genome.wustl.edu 37 12 121647982 121647982 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 121647982 121647982 C T SNP P2RX4 ENST00000337233 human ensembl 70_37 +1 known silent c.15 p.C5 0.554 prints_P2X4_purnocptor,prints_P2X1_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X4_purnocptor,prints_P2X_purnocptor,prints_P2X1_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX4 HGNC P2RY1 5028 genome.wustl.edu 37 3 152554066 152554066 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 152554066 152554066 G C SNP P2RY1 ENST00000305097 human ensembl 70_37 +1 known missense c.495 p.K165N 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y_purnocptor,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors P2RY1 HGNC PAG1 55824 genome.wustl.edu 37 8 81883062 81883062 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 81883062 81883062 G A SNP PAG1 ENST00000523463 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors PAG1 HGNC PAIP1 10605 genome.wustl.edu 37 5 43527498 43527498 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 43527498 43527498 C T SNP PAIP1 ENST00000306846 human ensembl 70_37 -1 known missense c.1420 p.E474K 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Ataxin-2_C,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors PAIP1 HGNC PALLD 23022 genome.wustl.edu 37 4 169837137 169837137 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 169837137 169837137 C G SNP PALLD ENST00000261509 human ensembl 70_37 +1 known missense c.2758 p.L920V 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PALLD HGNC PAPOLG 64895 genome.wustl.edu 37 2 61018984 61018984 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 61018984 61018984 C T SNP PAPOLG ENST00000238714 human ensembl 70_37 +1 known silent c.1485 p.Y495 1.000 pfam_PolA_pol_RNA-bd_dom,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLG HGNC PAPPA2 60676 genome.wustl.edu 37 1 176564181 176564181 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 176564181 176564181 C T SNP PAPPA2 ENST00000367662 human ensembl 70_37 +1 known missense c.1441 p.L481F 0.409 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC PARP8 79668 genome.wustl.edu 37 5 50128632 50128632 + Frame_Shift_Del DEL A A - TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 50128632 50128632 A - DEL PARP8 ENST00000281631 human ensembl 70_37 +1 known frame_shift_del c.2251 p.K751fs 1.000 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP8 HGNC PATE4 399968 genome.wustl.edu 37 11 125707802 125707802 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 125707802 125707802 G A SNP PATE4 ENST00000457514 human ensembl 70_37 +1 known missense c.98 p.G33E 0.000 NULL NULL - no_errors PATE4 HGNC PAX4 5078 genome.wustl.edu 37 7 127253524 127253524 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 127253524 127253524 G C SNP PAX4 ENST00000341640 human ensembl 70_37 -1 known missense c.601 p.L201V 0.998 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Paired_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX4 HGNC PCDH15 65217 genome.wustl.edu 37 10 55591180 55591180 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 55591180 55591180 C G SNP PCDH15 ENST00000320301 human ensembl 70_37 -1 known missense c.4097 p.R1366T 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC PCDHB10 56126 genome.wustl.edu 37 5 140573239 140573239 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 140573239 140573239 G A SNP PCDHB10 ENST00000239446 human ensembl 70_37 +1 known missense c.1114 p.D372N 0.929 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 PCDHB10 HGNC PCDHGA3 56112 genome.wustl.edu 37 5 140724207 140724207 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 140724207 140724207 G C SNP PCDHGA3 ENST00000253812 human ensembl 70_37 +1 known missense c.607 p.E203Q 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC PCDP1 200373 genome.wustl.edu 37 2 120362840 120362840 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 120362840 120362840 G T SNP PCDP1 ENST00000602047 human ensembl 70_37 +1 known nonsense c.250 p.E84* 0.683 NULL NULL - no_errors PCDP1 Uniprot_genename PCM1 5108 genome.wustl.edu 37 8 17813125 17813125 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 17813125 17813125 G A SNP PCM1 ENST00000325083 human ensembl 70_37 +1 known missense c.1435 p.E479K 1.000 NULL NULL - no_errors PCM1 HGNC PCM1 5108 genome.wustl.edu 37 8 17817611 17817611 + Nonsense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 17817611 17817611 C G SNP PCM1 ENST00000325083 human ensembl 70_37 +1 known nonsense c.2129 p.S710* 1.000 NULL NULL - no_errors PCM1 HGNC PCNT 5116 genome.wustl.edu 37 21 47865279 47865279 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 47865279 47865279 G A SNP PCNT ENST00000480896 human ensembl 70_37 +1 known rna NULL NULL 0.500 - - - no_errors PCNT HGNC PDE10A 10846 genome.wustl.edu 37 6 165746607 165746607 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 165746607 165746607 G A SNP PDE10A ENST00000539869 human ensembl 70_37 -1 known silent c.2277 p.L759 0.996 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC PDE1A 5136 genome.wustl.edu 37 2 183066180 183066180 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 183066180 183066180 C T SNP PDE1A ENST00000456212 human ensembl 70_37 -1 known missense c.1159 p.E387K 1.000 pfam_PDEase_catalytic_dom,prints_PDEase pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1A HGNC PDE3A 5139 genome.wustl.edu 37 12 20799728 20799728 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 20799728 20799728 C G SNP PDE3A ENST00000359062 human ensembl 70_37 +1 known missense c.2409 p.F803L 0.896 smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC PDE4DIP 9659 genome.wustl.edu 37 1 144911926 144911926 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 144911926 144911926 G T SNP PDE4DIP ENST00000369356 human ensembl 70_37 -1 known nonsense c.2183 p.S728* 0.040 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC PDGFRA 5156 genome.wustl.edu 37 4 55143649 55143649 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 55143649 55143649 G C SNP PDGFRA ENST00000257290 human ensembl 70_37 +1 known missense c.1881 p.K627N 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors PDGFRA HGNC PDRG1 81572 genome.wustl.edu 37 20 30533645 30533645 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 30533645 30533645 C T SNP PDRG1 ENST00000202017 human ensembl 70_37 -1 known missense c.367 p.E123K 1.000 NULL pfam_PFD_beta-like,superfamily_Prefoldin - no_errors PDRG1 HGNC PDZRN4 29951 genome.wustl.edu 37 12 41961654 41961654 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 41961654 41961654 G A SNP PDZRN4 ENST00000402685 human ensembl 70_37 +1 known missense c.1537 p.E513K 1.000 NULL pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC PER1 5187 genome.wustl.edu 37 17 8046090 8046090 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 8046090 8046090 G A SNP PER1 ENST00000317276 human ensembl 70_37 -1 known silent c.3136 p.L1046 1.000 pfam_Period_circadian-like_C pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors PER1 HGNC PER1 5187 genome.wustl.edu 37 17 8050296 8050296 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 8050296 8050296 C T SNP PER1 ENST00000317276 human ensembl 70_37 -1 known missense c.1654 p.D552N 1.000 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors PER1 HGNC PFKFB2 5208 genome.wustl.edu 37 1 207237151 207237151 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 207237151 207237151 G A SNP PFKFB2 ENST00000367080 human ensembl 70_37 +1 known missense c.484 p.D162N 1.000 pfam_6Phosfructo_kin,pfam_Chromatin_KTI12,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB2 HGNC PGAP1 80055 genome.wustl.edu 37 2 197791251 197791251 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 197791251 197791251 G A SNP PGAP1 ENST00000354764 human ensembl 70_37 -1 known silent c.90 p.F30 0.995 NULL pfam_PGAP1-like - no_errors PGAP1 HGNC PGBD1 84547 genome.wustl.edu 37 6 28254871 28254871 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 28254871 28254871 G A SNP PGBD1 ENST00000259883 human ensembl 70_37 +1 known missense c.568 p.G190R 0.005 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_Srcr_rcpt,pfscan_Tscrpt_reg_SCAN - no_errors PGBD1 HGNC PGLYRP1 8993 genome.wustl.edu 37 19 46522675 46522675 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 46522675 46522675 G A SNP PGLYRP1 ENST00000008938 human ensembl 70_37 -1 known missense c.412 p.R138W 0.078 pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain,pirsf_Peptidoglycan_recognition pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain,pirsf_Peptidoglycan_recognition - no_errors PGLYRP1 HGNC PGM5 5239 genome.wustl.edu 37 9 71098826 71098826 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 71098826 71098826 G A SNP PGM5 ENST00000396396 human ensembl 70_37 +1 known missense c.1341 p.M447I 1.000 NULL pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC PHF20 51230 genome.wustl.edu 37 20 34487442 34487442 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 34487442 34487442 G T SNP PHF20 ENST00000374012 human ensembl 70_37 +1 known missense c.1433 p.G478V 0.995 pfscan_Znf_C2H2 pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_C2H2 - no_errors PHF20 HGNC PHF20L1 51105 genome.wustl.edu 37 8 133848895 133848895 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 133848895 133848895 G T SNP PHF20L1 ENST00000220847 human ensembl 70_37 +1 known nonsense c.181 p.E61* 1.000 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD - no_errors PHF20L1 HGNC PHF8 23133 genome.wustl.edu 37 X 54011586 54011586 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 54011586 54011586 G A SNP PHF8 ENST00000357988 human ensembl 70_37 -1 known missense c.2312 p.S771L 0.995 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF8 HGNC PHLPP1 23239 genome.wustl.edu 37 18 60645786 60645786 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 60645786 60645786 G C SNP PHLPP1 ENST00000262719 human ensembl 70_37 +1 known missense c.4276 p.E1426Q 0.999 NULL pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC PHTF1 10745 genome.wustl.edu 37 1 114255982 114255982 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 114255982 114255982 C G SNP PHTF1 ENST00000369604 human ensembl 70_37 -1 known missense c.702 p.K234N 0.998 NULL pfam_TF_homeodomain_male - no_errors PHTF1 HGNC PIANP 196500 genome.wustl.edu 37 12 6804739 6804739 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 6804739 6804739 C G SNP PIANP ENST00000320591 human ensembl 70_37 -1 known silent c.684 p.L228 1.000 NULL NULL - no_errors PIANP HGNC PIK3C2A 5286 genome.wustl.edu 37 11 17190537 17190537 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 17190537 17190537 G A SNP PIK3C2A ENST00000265970 human ensembl 70_37 -1 known missense c.752 p.S251L 0.968 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_Ca-dep,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC PIK3C2A 5286 genome.wustl.edu 37 11 17190670 17190670 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 17190670 17190670 G T SNP PIK3C2A ENST00000265970 human ensembl 70_37 -1 known missense c.619 p.H207N 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_Ca-dep,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC PIK3CB 5291 genome.wustl.edu 37 3 138433528 138433528 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 138433528 138433528 C T SNP PIK3CB ENST00000289153 human ensembl 70_37 -1 known missense c.1084 p.E362K 1.000 pfam_PI3K_C2_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CB HGNC PIK3CB 5291 genome.wustl.edu 37 3 138453525 138453525 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 138453525 138453525 G A SNP PIK3CB ENST00000289153 human ensembl 70_37 -1 known missense c.923 p.S308L 1.000 NULL pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CB HGNC PIK3R2 5296 genome.wustl.edu 37 19 18271291 18271291 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 18271291 18271291 C G SNP PIK3R2 ENST00000222254 human ensembl 70_37 +1 known silent c.333 p.L111 0.983 superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom pfam_SH2,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R2 HGNC PINK1-AS 100861548 genome.wustl.edu 37 1 20976831 20976831 + RNA SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 20976831 20976831 G T SNP PINK1-AS ENST00000451424 human ensembl 70_37 -1 known rna NULL NULL 0.047 - - - no_errors PINK1-AS HGNC GSAP 54103 genome.wustl.edu 37 7 76982319 76982319 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 76982319 76982319 G C SNP PION ENST00000257626 human ensembl 70_37 -1 known nonsense c.1433 p.S478* 0.026 NULL NULL - no_errors PION HGNC PIPSL 266971 genome.wustl.edu 37 10 95719284 95719284 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 95719284 95719284 C G SNP PIPSL ENST00000480546 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors PIPSL HGNC PIRT 644139 genome.wustl.edu 37 17 10728932 10728932 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 10728932 10728932 C G SNP PIRT ENST00000580256 human ensembl 70_37 -1 known missense c.31 p.E11Q 0.990 NULL NULL - no_errors PIRT HGNC PKD1 5310 genome.wustl.edu 37 16 2142996 2142996 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 2142996 2142996 G A SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known silent c.11115 p.I3705 1.000 NULL pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC PKNOX1 5316 genome.wustl.edu 37 21 44430304 44430304 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 44430304 44430304 C G SNP PKNOX1 ENST00000291547 human ensembl 70_37 +1 known missense c.321 p.F107L 1.000 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors PKNOX1 HGNC PKP2 5318 genome.wustl.edu 37 12 32945601 32945601 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 32945601 32945601 C T SNP PKP2 ENST00000070846 human ensembl 70_37 -1 known missense c.2554 p.E852K 0.987 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP2 HGNC PLA2G4A 5321 genome.wustl.edu 37 1 186901988 186901988 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 186901988 186901988 C T SNP PLA2G4A ENST00000367466 human ensembl 70_37 +1 known silent c.652 p.L218 1.000 pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4A HGNC PLAC1 10761 genome.wustl.edu 37 X 133700283 133700283 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 133700283 133700283 C A SNP PLAC1 ENST00000359237 human ensembl 70_37 -1 known nonsense c.430 p.E144* 0.002 NULL NULL - no_errors PLAC1 HGNC PLAT 5327 genome.wustl.edu 37 8 42045454 42045454 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 42045454 42045454 C T SNP PLAT ENST00000220809 human ensembl 70_37 -1 known missense c.334 p.E112K 0.000 pfam_EG-like_dom,superfamily_Kringle-like,pfscan_EG-like_dom pfam_Peptidase_S1_S6,pfam_Kringle,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PLAT HGNC PLCB1 23236 genome.wustl.edu 37 20 8665686 8665686 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 8665686 8665686 C G SNP PLCB1 ENST00000338037 human ensembl 70_37 +1 known missense c.970 p.H324D 1.000 pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C,pfscan_PLipase_C_PInositol-sp_X_dom pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC PLCB2 5330 genome.wustl.edu 37 15 40591117 40591117 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 40591117 40591117 G A SNP PLCB2 ENST00000260402 human ensembl 70_37 -1 known silent c.732 p.F244 1.000 pirsf_PLC-beta,pfam_PLipase_C_EF-hand-like pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB2 HGNC PLCB2 5330 genome.wustl.edu 37 15 40591367 40591367 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 40591367 40591367 G C SNP PLCB2 ENST00000260402 human ensembl 70_37 -1 known silent c.645 p.L215 0.993 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB2 HGNC PLCD1 5333 genome.wustl.edu 37 3 38049823 38049823 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 38049823 38049823 C T SNP PLCD1 ENST00000463876 human ensembl 70_37 -1 known silent c.2001 p.K667 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD1 HGNC PLCE1 51196 genome.wustl.edu 37 10 96066416 96066416 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 96066416 96066416 G C SNP PLCE1 ENST00000371380 human ensembl 70_37 +1 known missense c.5855 p.R1952T 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC PLCG1 5335 genome.wustl.edu 37 20 39794982 39794982 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 39794982 39794982 G C SNP PLCG1 ENST00000244007 human ensembl 70_37 +1 known missense c.1948 p.E650Q 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl,smart_Pleckstrin_homology,pirsf_PLC-gamma,pfscan_SH2 pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2 - no_errors PLCG1 HGNC PLCH1 23007 genome.wustl.edu 37 3 155198792 155198792 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 155198792 155198792 C T SNP PLCH1 ENST00000340059 human ensembl 70_37 -1 known missense c.5047 p.D1683N 0.997 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC PLCH1 23007 genome.wustl.edu 37 3 155199221 155199221 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 155199221 155199221 C T SNP PLCH1 ENST00000340059 human ensembl 70_37 -1 known missense c.4618 p.D1540N 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC PLCH1 23007 genome.wustl.edu 37 3 155199584 155199584 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 155199584 155199584 C T SNP PLCH1 ENST00000340059 human ensembl 70_37 -1 known missense c.4255 p.E1419K 0.002 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC PLCH1 23007 genome.wustl.edu 37 3 155199800 155199800 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 155199800 155199800 C T SNP PLCH1 ENST00000340059 human ensembl 70_37 -1 known missense c.4039 p.D1347N 0.009 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC PLCH1 23007 genome.wustl.edu 37 3 155200384 155200384 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 155200384 155200384 G A SNP PLCH1 ENST00000340059 human ensembl 70_37 -1 known missense c.3455 p.S1152F 0.992 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC PLCH1 23007 genome.wustl.edu 37 3 155200812 155200812 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 155200812 155200812 C T SNP PLCH1 ENST00000340059 human ensembl 70_37 -1 known silent c.3027 p.G1009 0.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC PLCH2 9651 genome.wustl.edu 37 1 2435841 2435841 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 2435841 2435841 C A SNP PLCH2 ENST00000378486 human ensembl 70_37 +1 known missense c.3440 p.S1147Y 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH2 HGNC PLEC 5339 genome.wustl.edu 37 8 144998486 144998486 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 144998486 144998486 C T SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.6022 p.E2008K 1.000 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC PLEC 5339 genome.wustl.edu 37 8 145004320 145004320 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 145004320 145004320 G C SNP PLEC ENST00000322810 human ensembl 70_37 -1 known silent c.3015 p.A1005 0.006 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC PLEC 5339 genome.wustl.edu 37 8 145024566 145024566 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 145024566 145024566 G A SNP PLEC ENST00000322810 human ensembl 70_37 -1 known silent c.309 p.P103 0.817 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC PLEC 5339 genome.wustl.edu 37 8 145024586 145024586 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 145024586 145024586 G C SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.289 p.L97V 0.997 pfam_S10_plectin_N pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC PLEC 5339 genome.wustl.edu 37 8 145024638 145024638 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 145024638 145024638 G A SNP PLEC ENST00000322810 human ensembl 70_37 -1 known silent c.237 p.I79 0.325 pfam_S10_plectin_N pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC PLEKHA1 59338 genome.wustl.edu 37 10 124177418 124177418 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 124177418 124177418 G A SNP PLEKHA1 ENST00000368990 human ensembl 70_37 +1 known missense c.615 p.M205I 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA1 HGNC PLEKHA1 59338 genome.wustl.edu 37 10 124177430 124177430 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 124177430 124177430 G A SNP PLEKHA1 ENST00000368990 human ensembl 70_37 +1 known silent c.627 p.K209 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA1 HGNC PLEKHH3 79990 genome.wustl.edu 37 17 40820118 40820118 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 40820118 40820118 G C SNP PLEKHH3 ENST00000456950 human ensembl 70_37 -1 known rna NULL NULL 0.118 - - - no_errors PLEKHH3 HGNC PLIN4 729359 genome.wustl.edu 37 19 4516671 4516671 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 4516671 4516671 C G SNP PLIN4 ENST00000301286 human ensembl 70_37 -1 novel missense c.171 p.Q57H 0.012 NULL pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC PLXNA3 55558 genome.wustl.edu 37 X 153696205 153696205 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 153696205 153696205 G A SNP PLXNA3 ENST00000369682 human ensembl 70_37 +1 known silent c.3681 p.G1227 0.340 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA3 HGNC PNMA2 10687 genome.wustl.edu 37 8 26366151 26366151 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 26366151 26366151 C A SNP PNMA2 ENST00000522362 human ensembl 70_37 -1 known nonsense c.121 p.E41* 1.000 NULL pfam_Retrotrans_gag - no_errors PNMA2 HGNC PNN 5411 genome.wustl.edu 37 14 39651657 39651657 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 39651657 39651657 C T SNP PNN ENST00000557680 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors PNN HGNC POLQ 10721 genome.wustl.edu 37 3 121195434 121195434 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 121195434 121195434 G C SNP POLQ ENST00000264233 human ensembl 70_37 -1 known missense c.6358 p.L2120V 1.000 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC POLR1C 9533 genome.wustl.edu 37 6 43487119 43487119 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 43487119 43487119 G C SNP POLR1C ENST00000372389 human ensembl 70_37 +1 known missense c.190 p.D64H 1.000 pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 pfam_DNA-dir_RNA_pol_insert,pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 - no_errors POLR1C HGNC POLR2A 5430 genome.wustl.edu 37 17 7407087 7407087 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 7407087 7407087 G C SNP POLR2A ENST00000322644 human ensembl 70_37 +1 known missense c.3217 p.E1073Q 1.000 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC POLR2B 5431 genome.wustl.edu 37 4 57891674 57891674 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 57891674 57891674 C T SNP POLR2B ENST00000314595 human ensembl 70_37 +1 known silent c.3210 p.L1070 0.957 pfam_DNA-dir_RNA_pol_su2_6 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5 - no_errors POLR2B HGNC POLR2J4 84820 genome.wustl.edu 37 7 44056119 44056119 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 44056119 44056119 G A SNP POLR2J4 ENST00000326391 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors POLR2J4 HGNC POLR2M 81488 genome.wustl.edu 37 15 58027768 58027768 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 58027768 58027768 C T SNP POLR2M ENST00000380563 human ensembl 70_37 +1 known missense c.1067 p.S356F 0.192 NULL NULL - no_errors POLR2M HGNC POLR3E 55718 genome.wustl.edu 37 16 22337179 22337179 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 22337179 22337179 G A SNP POLR3E ENST00000299853 human ensembl 70_37 +1 known silent c.1446 p.R482 0.992 NULL pfam_RNA_pol_III_Rpc5 - no_errors POLR3E HGNC POLR3E 55718 genome.wustl.edu 37 16 22337467 22337467 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 22337467 22337467 G A SNP POLR3E ENST00000299853 human ensembl 70_37 +1 known silent c.1734 p.L578 1.000 NULL pfam_RNA_pol_III_Rpc5 - no_errors POLR3E HGNC POMZP3 22932 genome.wustl.edu 37 7 76254879 76254879 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 76254879 76254879 C T SNP POMZP3 ENST00000310842 human ensembl 70_37 -1 known missense c.187 p.E63K 0.877 NULL pfam_ZP_dom - no_errors POMZP3 HGNC POTEC 388468 genome.wustl.edu 37 18 14511988 14511988 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 14511988 14511988 G A SNP POTEC ENST00000358970 human ensembl 70_37 -1 known missense c.1538 p.S513F 0.856 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEC HGNC PP2D1 151649 genome.wustl.edu 37 3 20027557 20027557 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 20027557 20027557 G C SNP PP2D1 ENST00000389050 human ensembl 70_37 -1 known nonsense c.1208 p.S403* 0.059 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PP2D1 HGNC PPARGC1A 10891 genome.wustl.edu 37 4 23830116 23830116 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 23830116 23830116 G A SNP PPARGC1A ENST00000264867 human ensembl 70_37 -1 known missense c.664 p.H222Y 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1A HGNC PPFIBP2 8495 genome.wustl.edu 37 11 7672960 7672960 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 7672960 7672960 G A SNP PPFIBP2 ENST00000299492 human ensembl 70_37 +1 known missense c.2321 p.R774K 1.000 pfam_SAM_2,superfamily_SAM/pointed,smart_SAM pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_DNA-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP2 HGNC PPM1B 5495 genome.wustl.edu 37 2 44396048 44396048 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 44396048 44396048 G A SNP PPM1B ENST00000378540 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PPM1B HGNC PPM1E 22843 genome.wustl.edu 37 17 57050206 57050206 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 57050206 57050206 G C SNP PPM1E ENST00000308249 human ensembl 70_37 +1 known missense c.1130 p.R377T 1.000 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1E HGNC PPP1R12A 4659 genome.wustl.edu 37 12 80191124 80191124 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 80191124 80191124 G A SNP PPP1R12A ENST00000261207 human ensembl 70_37 -1 known missense c.2143 p.R715C 1.000 pirsf_Pase-1_reg_su_12A/B/C_euk pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12A HGNC PPP1R13B 23368 genome.wustl.edu 37 14 104219456 104219456 + Nonsense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 104219456 104219456 G A SNP PPP1R13B ENST00000202556 human ensembl 70_37 -1 known nonsense c.709 p.Q237* 1.000 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13B HGNC PPP1R14B 26472 genome.wustl.edu 37 11 64012723 64012723 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 64012723 64012723 C G SNP PPP1R14B ENST00000309318 human ensembl 70_37 -1 known missense c.295 p.E99Q 0.998 pfam_PP1_inhibitor,superfamily_PP1_inhibitor pfam_PP1_inhibitor,superfamily_PP1_inhibitor - no_errors PPP1R14B HGNC PPP1R14B 26472 genome.wustl.edu 37 11 64012732 64012732 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 64012732 64012732 C T SNP PPP1R14B ENST00000309318 human ensembl 70_37 -1 known missense c.286 p.D96N 0.997 pfam_PP1_inhibitor,superfamily_PP1_inhibitor pfam_PP1_inhibitor,superfamily_PP1_inhibitor - no_errors PPP1R14B HGNC PPP1R37 284352 genome.wustl.edu 37 19 45645571 45645571 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 45645571 45645571 G A SNP PPP1R37 ENST00000221462 human ensembl 70_37 +1 known silent c.729 p.L243 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors PPP1R37 HGNC PPP1R9B 84687 genome.wustl.edu 37 17 48227731 48227731 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 48227731 48227731 C G SNP PPP1R9B ENST00000316878 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PPP1R9B HGNC PPP2R2B 5521 genome.wustl.edu 37 5 145979889 145979889 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 145979889 145979889 G C SNP PPP2R2B ENST00000394414 human ensembl 70_37 -1 known missense c.1123 p.L375V 1.000 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55,prints_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2B HGNC PPP2R5B 5526 genome.wustl.edu 37 11 64695769 64695769 + Silent SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 64695769 64695769 C A SNP PPP2R5B ENST00000164133 human ensembl 70_37 +1 known silent c.594 p.L198 0.986 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5B HGNC PPP2R5C 5527 genome.wustl.edu 37 14 102372772 102372772 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 102372772 102372772 G C SNP PPP2R5C ENST00000422945 human ensembl 70_37 +1 known missense c.1150 p.E384Q 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5C HGNC PPP6R1 22870 genome.wustl.edu 37 19 55743452 55743452 + Nonsense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 55743452 55743452 G A SNP PPP6R1 ENST00000412770 human ensembl 70_37 -1 known nonsense c.2116 p.Q706* 0.196 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R1 HGNC PPT1 5538 genome.wustl.edu 37 1 40557775 40557775 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 40557775 40557775 C A SNP PPT1 ENST00000433473 human ensembl 70_37 -1 known missense c.304 p.D102Y 1.000 pfam_Palm_thioest pfam_Palm_thioest,prints_Palm_thioest - no_errors PPT1 HGNC NPY4R 5540 genome.wustl.edu 37 10 47086912 47086912 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 47086912 47086912 C A SNP PPYR1 ENST00000374312 human ensembl 70_37 +1 known missense c.129 p.F43L 0.996 prints_NPY4_rcpt,prints_GPCR_Rhodpsn 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 PRAMEF11 440560 genome.wustl.edu 37 1 12885298 12885298 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 12885298 12885298 C T SNP PRAMEF11 ENST00000535591 human ensembl 70_37 -1 known silent c.813 p.L271 0.001 NULL NULL - no_errors PRAMEF11 HGNC PRB2 653247 genome.wustl.edu 37 12 11545880 11545880 + Nonsense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 11545880 11545880 G A SNP PRB2 ENST00000389362 human ensembl 70_37 -1 known nonsense c.1132 p.Q378* 0.030 NULL NULL - no_errors PRB2 HGNC PRDM5 11107 genome.wustl.edu 37 4 121742343 121742343 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 121742343 121742343 G C SNP PRDM5 ENST00000264808 human ensembl 70_37 -1 known nonsense c.458 p.S153* 0.000 pirsf_Znf_PRDM5 pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM5 HGNC PRIM2 5558 genome.wustl.edu 37 6 57398204 57398204 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 57398204 57398204 C T SNP PRIM2 ENST00000389488 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PRIM2 HGNC PRKCDBP 112464 genome.wustl.edu 37 11 6341334 6341334 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 6341334 6341334 G C SNP PRKCDBP ENST00000303927 human ensembl 70_37 -1 known missense c.373 p.L125V 0.999 NULL NULL - no_errors PRKCDBP HGNC PRKCI 5584 genome.wustl.edu 37 3 169981171 169981171 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 169981171 169981171 C G SNP PRKCI ENST00000295797 human ensembl 70_37 +1 known missense c.318 p.F106L 0.718 pfam_OPR_PB1,smart_OPR_PB1,pirsf_PKC_zeta pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKCI HGNC PRKD1 5587 genome.wustl.edu 37 14 30046635 30046635 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 30046635 30046635 C G SNP PRKD1 ENST00000331968 human ensembl 70_37 -1 known missense c.2548 p.E850Q 0.996 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC PRKDC 5591 genome.wustl.edu 37 8 48740909 48740909 + Splice_Site SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 48740909 48740909 C G SNP PRKDC ENST00000314191 human ensembl 70_37 -1 known splice_site c.8395-1 e63-1 1.000 - - - no_errors PRKDC HGNC PRLR 5618 genome.wustl.edu 37 5 35065310 35065310 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 35065310 35065310 C G SNP PRLR ENST00000382002 human ensembl 70_37 -1 known missense c.1750 p.E584Q 0.001 NULL pfam_Growth/epo_recpt_lig-bind,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PRLR HGNC PRNP 5621 genome.wustl.edu 37 20 4680616 4680616 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 4680616 4680616 G C SNP PRNP ENST00000379440 human ensembl 70_37 +1 known silent c.750 p.L250 0.992 pfam_Prion/Doppel_prot_b-ribbon_dom,prints_Prion pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Prion_N_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion,prints_Prion - no_errors PRNP HGNC PROCR 10544 genome.wustl.edu 37 20 33764165 33764165 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 33764165 33764165 C T SNP PROCR ENST00000216968 human ensembl 70_37 +1 known missense c.517 p.R173C 0.699 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors PROCR HGNC PROM2 150696 genome.wustl.edu 37 2 95943221 95943221 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 95943221 95943221 C T SNP PROM2 ENST00000317620 human ensembl 70_37 +1 known silent c.882 p.L294 0.013 pfam_Prominin pfam_Prominin - no_errors PROM2 HGNC PROS1 5627 genome.wustl.edu 37 3 93692591 93692591 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 93692591 93692591 C G SNP PROS1 ENST00000394236 human ensembl 70_37 -1 known missense c.3 p.M1I 1.000 NULL 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 PRPF18 8559 genome.wustl.edu 37 10 13629114 13629114 + Silent SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 13629114 13629114 C A SNP PRPF18 ENST00000378572 human ensembl 70_37 +1 known silent c.28 p.R10 0.995 NULL pfam_Prp18,pfam_PRP4,superfamily_Prp18,smart_SFM - no_errors PRPF18 HGNC PRPF6 24148 genome.wustl.edu 37 20 62660803 62660803 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 62660803 62660803 G C SNP PRPF6 ENST00000266079 human ensembl 70_37 +1 known missense c.2505 p.K835N 1.000 NULL pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRPF6 HGNC PRPSAP2 5636 genome.wustl.edu 37 17 18832268 18832268 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 18832268 18832268 G C SNP PRPSAP2 ENST00000268835 human ensembl 70_37 +1 known missense c.949 p.E317Q 1.000 tigrfam_Rib-P_diPkinase tigrfam_Rib-P_diPkinase - no_errors PRPSAP2 HGNC PRRC2A 7916 genome.wustl.edu 37 6 31597075 31597075 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 31597075 31597075 G T SNP PRRC2A ENST00000376007 human ensembl 70_37 +1 known missense c.1920 p.Q640H 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC PRRC2A 7916 genome.wustl.edu 37 6 31598979 31598979 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 31598979 31598979 G C SNP PRRC2A ENST00000376007 human ensembl 70_37 +1 known missense c.2529 p.E843D 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC PRRC2B 84726 genome.wustl.edu 37 9 134351139 134351139 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 134351139 134351139 G A SNP PRRC2B ENST00000357304 human ensembl 70_37 +1 known missense c.3623 p.R1208Q 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC PRSS1 5644 genome.wustl.edu 37 7 142459659 142459659 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 142459659 142459659 G T SNP PRSS1 ENST00000311737 human ensembl 70_37 +1 known nonsense c.235 p.E79* 0.373 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS1 HGNC PRSS53 339105 genome.wustl.edu 37 16 31098175 31098175 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 31098175 31098175 G A SNP PRSS53 ENST00000280606 human ensembl 70_37 -1 known missense c.287 p.S96F 1.000 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS53 HGNC PRUNE2 158471 genome.wustl.edu 37 9 79322089 79322089 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 79322089 79322089 C G SNP PRUNE2 ENST00000428286 human ensembl 70_37 -1 known missense c.4024 p.E1342Q 0.066 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC PRX 57716 genome.wustl.edu 37 19 40901211 40901211 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 40901211 40901211 G A SNP PRX ENST00000324001 human ensembl 70_37 -1 known silent c.3048 p.F1016 0.985 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC PSD 5662 genome.wustl.edu 37 10 104176302 104176302 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 104176302 104176302 G A SNP PSD ENST00000020673 human ensembl 70_37 -1 known missense c.494 p.S165L 0.033 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 PSG10P 653492 genome.wustl.edu 37 19 43349407 43349407 + RNA SNP T T A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 43349407 43349407 T A SNP PSG10P ENST00000597171 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PSG10P HGNC PSG8 440533 genome.wustl.edu 37 19 43259329 43259329 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 43259329 43259329 C T SNP PSG8 ENST00000306511 human ensembl 70_37 -1 known missense c.799 p.E267K 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG8 HGNC PSMD4 5710 genome.wustl.edu 37 1 151234722 151234722 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 151234722 151234722 C T SNP PSMD4 ENST00000368884 human ensembl 70_37 +1 known missense c.112 p.H38Y 1.000 pfam_Ssl1-like,smart_VWF_A,pfscan_VWF_A pfam_Ubiquitin-int_motif,pfam_Ssl1-like,smart_VWF_A,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_VWF_A - no_errors PSMD4 HGNC PSMD4 5710 genome.wustl.edu 37 1 151236293 151236293 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 151236293 151236293 G C SNP PSMD4 ENST00000469786 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors PSMD4 HGNC PSMG3 84262 genome.wustl.edu 37 7 1607367 1607367 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 1607367 1607367 C G SNP PSMG3 ENST00000252329 human ensembl 70_37 -1 known silent c.336 p.L112 0.947 pfam_Proteasome_assmbl_chp_3 pfam_Proteasome_assmbl_chp_3 - no_errors PSMG3 HGNC PSPN 5623 genome.wustl.edu 37 19 6375622 6375622 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 6375622 6375622 G A SNP PSPN ENST00000245810 human ensembl 70_37 -1 known missense c.154 p.H52Y 0.956 NULL pfam_TGF-b_C,smart_TGF-b_C - no_errors PSPN HGNC PTBP1 5725 genome.wustl.edu 37 19 808419 808419 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 808419 808419 G C SNP PTBP1 ENST00000356948 human ensembl 70_37 +1 known missense c.1213 p.V405L 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP1 HGNC PTCH2 8643 genome.wustl.edu 37 1 45292359 45292359 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 45292359 45292359 G A SNP PTCH2 ENST00000372192 human ensembl 70_37 -1 known missense c.2777 p.A926V 1.000 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH2 HGNC PTCHD1 139411 genome.wustl.edu 37 X 23398156 23398156 + Missense_Mutation SNP T T A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 23398156 23398156 T A SNP PTCHD1 ENST00000379361 human ensembl 70_37 +1 known missense c.800 p.V267E 0.996 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC PTGFRN 5738 genome.wustl.edu 37 1 117509651 117509651 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 117509651 117509651 C T SNP PTGFRN ENST00000393203 human ensembl 70_37 +1 known silent c.1758 p.L586 1.000 smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PTGFRN HGNC PTK2 5747 genome.wustl.edu 37 8 141685663 141685663 + RNA SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 141685663 141685663 C A SNP PTK2 ENST00000520460 human ensembl 70_37 -1 known rna NULL NULL 0.195 - - - no_errors PTK2 HGNC PTK7 5754 genome.wustl.edu 37 6 43112169 43112169 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 43112169 43112169 C T SNP PTK7 ENST00000461389 human ensembl 70_37 +1 known silent c.36 p.L12 0.001 NULL NULL - no_errors PTK7 HGNC PTP4A1 7803 genome.wustl.edu 37 6 64282609 64282609 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 64282609 64282609 G A SNP PTP4A1 ENST00000578299 human ensembl 70_37 +1 putative missense c.24 p.M8I 1.000 NULL NULL - no_errors PTP4A1 HGNC PTPRG 5793 genome.wustl.edu 37 3 62267354 62267354 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 62267354 62267354 C T SNP PTPRG ENST00000474889 human ensembl 70_37 +1 known silent c.3882 p.I1294 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,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_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC PTPRO 5800 genome.wustl.edu 37 12 15637046 15637046 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 15637046 15637046 G C SNP PTPRO ENST00000281171 human ensembl 70_37 +1 known missense c.214 p.E72Q 1.000 superfamily_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRO HGNC PTPRO 5800 genome.wustl.edu 37 12 15661681 15661681 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 15661681 15661681 G A SNP PTPRO ENST00000281171 human ensembl 70_37 +1 known missense c.1444 p.E482K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRO HGNC PTPRU 10076 genome.wustl.edu 37 1 29647330 29647330 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 29647330 29647330 C T SNP PTPRU ENST00000345512 human ensembl 70_37 +1 known missense c.3851 p.S1284F 0.999 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt 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,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC PURG 29942 genome.wustl.edu 37 8 30890108 30890108 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 30890108 30890108 C G SNP PURG ENST00000475541 human ensembl 70_37 -1 known missense c.191 p.R64P 0.990 pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd - no_errors PURG HGNC PZP 5858 genome.wustl.edu 37 12 9322060 9322060 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 9322060 9322060 G C SNP PZP ENST00000261336 human ensembl 70_37 -1 known nonsense c.1967 p.S656* 0.000 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC QRSL1 55278 genome.wustl.edu 37 6 107110891 107110891 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 107110891 107110891 G A SNP QRSL1 ENST00000369046 human ensembl 70_37 +1 known silent c.1197 p.V399 0.993 pfam_Amidase,superfamily_Amidase_dom,tigrfam_GatA pfam_Amidase,superfamily_Amidase_dom,tigrfam_GatA - no_errors QRSL1 HGNC RAB11FIP1 80223 genome.wustl.edu 37 8 37730614 37730614 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 37730614 37730614 G A SNP RAB11FIP1 ENST00000330843 human ensembl 70_37 -1 known missense c.1706 p.S569F 0.007 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RAB11FIP1 HGNC RAB12 201475 genome.wustl.edu 37 18 8638222 8638222 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 8638222 8638222 G C SNP RAB12 ENST00000329286 human ensembl 70_37 +1 known missense c.697 p.E233Q 1.000 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB12 HGNC RAB20 55647 genome.wustl.edu 37 13 111176396 111176396 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 111176396 111176396 G C SNP RAB20 ENST00000267328 human ensembl 70_37 -1 known silent c.321 p.L107 0.997 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB20 HGNC RAB3GAP2 25782 genome.wustl.edu 37 1 220340971 220340971 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 220340971 220340971 G A SNP RAB3GAP2 ENST00000358951 human ensembl 70_37 -1 known silent c.2853 p.F951 0.868 NULL superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC RABGAP1 23637 genome.wustl.edu 37 9 125748668 125748668 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 125748668 125748668 C T SNP RABGAP1 ENST00000373647 human ensembl 70_37 +1 known missense c.560 p.S187L 0.991 pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC RABGAP1L 9910 genome.wustl.edu 37 1 174951985 174951985 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 174951985 174951985 G C SNP RABGAP1L ENST00000347255 human ensembl 70_37 +1 known missense c.729 p.L243F 0.999 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1L HGNC RABL6 55684 genome.wustl.edu 37 9 139735063 139735063 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 139735063 139735063 C T SNP RABL6 ENST00000357466 human ensembl 70_37 +1 known silent c.1206 p.R402 0.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RABL6 HGNC RACGAP1 29127 genome.wustl.edu 37 12 50398061 50398061 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 50398061 50398061 G T SNP RACGAP1 ENST00000312377 human ensembl 70_37 -1 known missense c.452 p.S151Y 1.000 NULL pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,superfamily_Regulat_G_prot_signal_superfam,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors RACGAP1 HGNC RAD23B 5887 genome.wustl.edu 37 9 110068756 110068756 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 110068756 110068756 C T SNP RAD23B ENST00000358015 human ensembl 70_37 +1 known nonsense c.325 p.Q109* 1.000 tigrfam_Rad23 pfam_XPC-bd,pfam_Ubiquitin,pfam_UBA/transl_elong_EF1B_N,pfam_SUMO,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,prints_Rad23,tigrfam_Rad23 - no_errors RAD23B HGNC RAD51C 5889 genome.wustl.edu 37 17 56809919 56809919 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 56809919 56809919 G A SNP RAD51C ENST00000583539 human ensembl 70_37 +1 putative silent c.1040 p.*347 0.183 NULL pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors RAD51C HGNC RAD9B 144715 genome.wustl.edu 37 12 110959986 110959986 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 110959986 110959986 G A SNP RAD9B ENST00000392672 human ensembl 70_37 +1 known missense c.895 p.D299N 0.956 pirsf_Rad9 pfam_Rad9/Ddc1,pirsf_Rad9 - no_errors RAD9B HGNC RAI14 26064 genome.wustl.edu 37 5 34823462 34823462 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 34823462 34823462 G C SNP RAI14 ENST00000515799 human ensembl 70_37 +1 known missense c.1524 p.Q508H 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_t-SNARE,superfamily_UBA-like,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors RAI14 HGNC RAI14 26064 genome.wustl.edu 37 5 34823849 34823849 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 34823849 34823849 G A SNP RAI14 ENST00000515799 human ensembl 70_37 +1 known missense c.1911 p.M637I 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_t-SNARE,superfamily_UBA-like,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors RAI14 HGNC RALA 5898 genome.wustl.edu 37 7 39736381 39736381 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 39736381 39736381 G A SNP RALA ENST00000005257 human ensembl 70_37 +1 known missense c.421 p.E141K 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RALA HGNC RANBP10 57610 genome.wustl.edu 37 16 67805964 67805964 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 67805964 67805964 G C SNP RANBP10 ENST00000317506 human ensembl 70_37 -1 known missense c.373 p.Q125E 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RANBP10 HGNC RANBP2 5903 genome.wustl.edu 37 2 109381095 109381095 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 109381095 109381095 C T SNP RANBP2 ENST00000283195 human ensembl 70_37 +1 known missense c.4100 p.S1367L 0.994 pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC RANBP3 8498 genome.wustl.edu 37 19 5928059 5928059 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 5928059 5928059 C G SNP RANBP3 ENST00000340578 human ensembl 70_37 -1 known missense c.733 p.E245Q 0.003 NULL pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3 HGNC RARS2 57038 genome.wustl.edu 37 6 88265183 88265183 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 88265183 88265183 C G SNP RARS2 ENST00000369536 human ensembl 70_37 -1 known missense c.338 p.G113A 1.000 superfamily_Arg-tRNA-synth_N,tigrfam_Arg-tRNA-ligase_Ia pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia - no_errors RARS2 HGNC RASGRP3 25780 genome.wustl.edu 37 2 33783806 33783806 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 33783806 33783806 C T SNP RASGRP3 ENST00000402538 human ensembl 70_37 +1 known silent c.1773 p.I591 1.000 NULL pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP3 HGNC RASSF4 83937 genome.wustl.edu 37 10 45485136 45485136 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 45485136 45485136 G C SNP RASSF4 ENST00000334940 human ensembl 70_37 +1 known missense c.679 p.E227Q 0.995 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH - no_errors RASSF4 HGNC RASSF7 8045 genome.wustl.edu 37 11 562206 562206 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 562206 562206 G A SNP RASSF7 ENST00000414138 human ensembl 70_37 +1 known missense c.247 p.E83K 1.000 NULL NULL - no_errors RASSF7 HGNC RASSF9 9182 genome.wustl.edu 37 12 86198527 86198527 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 86198527 86198527 G C SNP RASSF9 ENST00000361228 human ensembl 70_37 -1 known missense c.1261 p.Q421E 1.000 NULL smart_Ras-assoc,pfscan_Ras-assoc - no_errors RASSF9 HGNC RB1 5925 genome.wustl.edu 37 13 48923137 48923137 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 48923137 48923137 G T SNP RB1 ENST00000267163 human ensembl 70_37 +1 known missense c.585 p.W195C 1.000 pfam_DUF3452_retinoblatoma-assoc pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like - no_errors RB1 HGNC RBBP8NL 140893 genome.wustl.edu 37 20 60994665 60994665 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 60994665 60994665 C G SNP RBBP8NL ENST00000252998 human ensembl 70_37 -1 known missense c.39 p.E13D 0.137 pfam_CtIP_N pfam_CtIP_N - no_errors RBBP8NL HGNC RBM10 8241 genome.wustl.edu 37 X 47038524 47038524 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 47038524 47038524 G A SNP RBM10 ENST00000377604 human ensembl 70_37 +1 known missense c.686 p.R229H 1.000 pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM10 HGNC RBM11 54033 genome.wustl.edu 37 21 15596832 15596832 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 15596832 15596832 C T SNP RBM11 ENST00000400577 human ensembl 70_37 +1 known nonsense c.406 p.Q136* 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM11 HGNC RBM17 84991 genome.wustl.edu 37 10 6139113 6139113 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 6139113 6139113 C T SNP RBM17 ENST00000379888 human ensembl 70_37 +1 known nonsense c.85 p.Q29* 1.000 pirsf_Splicing_factor_SPF45 pfam_G_patch_dom,smart_G_patch_dom,smart_RRM_dom_euk,pirsf_Splicing_factor_SPF45,pfscan_G_patch_dom - no_errors RBM17 HGNC RBM33 155435 genome.wustl.edu 37 7 155534643 155534643 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 155534643 155534643 C G SNP RBM33 ENST00000401878 human ensembl 70_37 +1 known missense c.2180 p.S727C 0.672 NULL smart_RRM_dom - no_errors RBM33 HGNC RBM45 129831 genome.wustl.edu 37 2 178985070 178985070 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 178985070 178985070 G C SNP RBM45 ENST00000286070 human ensembl 70_37 +1 known missense c.607 p.D203H 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM45 HGNC RBX1 9978 genome.wustl.edu 37 22 41349561 41349561 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 41349561 41349561 G C SNP RBX1 ENST00000216225 human ensembl 70_37 +1 known missense c.81 p.W27C 1.000 NULL pfscan_Znf_RING - no_errors RBX1 HGNC RDH8 50700 genome.wustl.edu 37 19 10131965 10131965 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 10131965 10131965 G A SNP RDH8 ENST00000591589 human ensembl 70_37 +1 known missense c.631 p.E211K 0.979 pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DHB_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors RDH8 HGNC RELA 5970 genome.wustl.edu 37 11 65429479 65429479 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 65429479 65429479 C T SNP RELA ENST00000406246 human ensembl 70_37 -1 known missense c.115 p.E39K 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD,prints_NF_Rel_dor pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors RELA HGNC RERE 473 genome.wustl.edu 37 1 8716253 8716253 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 8716253 8716253 G C SNP RERE ENST00000337907 human ensembl 70_37 -1 known nonsense c.104 p.S35* 1.000 NULL pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC REV3L 5980 genome.wustl.edu 37 6 111634580 111634580 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 111634580 111634580 C G SNP REV3L ENST00000358835 human ensembl 70_37 -1 known missense c.8579 p.R2860T 1.000 pfam_DNA-dir_DNA_pol_B_multi_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC REXO2 25996 genome.wustl.edu 37 11 114315254 114315254 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 114315254 114315254 C G SNP REXO2 ENST00000538791 human ensembl 70_37 +1 putative missense c.31 p.L11V 1.000 smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO2 HGNC RFC5 5985 genome.wustl.edu 37 12 118469182 118469182 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 118469182 118469182 C G SNP RFC5 ENST00000543153 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RFC5 HGNC RFPL4B 442247 genome.wustl.edu 37 6 112671250 112671250 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 112671250 112671250 C G SNP RFPL4B ENST00000441065 human ensembl 70_37 +1 known missense c.340 p.L114V 0.010 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL4B HGNC RFWD2 64326 genome.wustl.edu 37 1 176133017 176133017 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 176133017 176133017 G C SNP RFWD2 ENST00000367669 human ensembl 70_37 -1 known silent c.576 p.L192 0.993 NULL pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RFWD2 HGNC RGPD4 285190 genome.wustl.edu 37 2 108489090 108489090 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 108489090 108489090 G A SNP RGPD4 ENST00000354986 human ensembl 70_37 +1 known missense c.4630 p.E1544K 0.994 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC RGPD8 727851 genome.wustl.edu 37 2 113146919 113146919 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 113146919 113146919 C G SNP RGPD8 ENST00000302558 human ensembl 70_37 -1 known silent c.3603 p.L1201 0.997 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD8 HGNC RGPD8 727851 genome.wustl.edu 37 2 113147110 113147110 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 113147110 113147110 C T SNP RGPD8 ENST00000302558 human ensembl 70_37 -1 known missense c.3412 p.D1138N 1.000 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD8 HGNC RGS20 8601 genome.wustl.edu 37 8 54870854 54870854 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 54870854 54870854 G C SNP RGS20 ENST00000297313 human ensembl 70_37 +1 known missense c.1003 p.E335Q 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS20 HGNC RGS22 26166 genome.wustl.edu 37 8 101084453 101084453 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 101084453 101084453 G C SNP RGS22 ENST00000360863 human ensembl 70_37 -1 known silent c.345 p.L115 0.985 NULL pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal - no_errors RGS22 HGNC RGS4 5999 genome.wustl.edu 37 1 163044339 163044339 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 163044339 163044339 C T SNP RGS4 ENST00000421743 human ensembl 70_37 +1 known nonsense c.898 p.Q300* 0.926 NULL pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS4 HGNC RGS4 5999 genome.wustl.edu 37 1 163045932 163045932 + RNA SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 163045932 163045932 G T SNP RGS4 ENST00000491263 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RGS4 HGNC RHCE 6006 genome.wustl.edu 37 1 25715555 25715555 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 25715555 25715555 G T SNP RHCE ENST00000294413 human ensembl 70_37 -1 known nonsense c.851 p.S284* 0.002 pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHCE HGNC RIC8A 60626 genome.wustl.edu 37 11 213324 213324 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 213324 213324 G T SNP RIC8A ENST00000325207 human ensembl 70_37 +1 known nonsense c.1399 p.E467* 1.000 pfam_Gua_nucleotide_exch_fac_Ric8 pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn - no_errors RIC8A HGNC RICTOR 253260 genome.wustl.edu 37 5 38975684 38975684 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 38975684 38975684 G C SNP RICTOR ENST00000296782 human ensembl 70_37 -1 known missense c.844 p.L282V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RICTOR HGNC RIMS1 22999 genome.wustl.edu 37 6 72922844 72922844 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 72922844 72922844 C T SNP RIMS1 ENST00000401910 human ensembl 70_37 +1 putative missense c.19 p.H7Y 0.049 NULL pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors RIMS1 HGNC RIT1 6016 genome.wustl.edu 37 1 155880451 155880451 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 155880451 155880451 C G SNP RIT1 ENST00000368323 human ensembl 70_37 -1 known missense c.102 p.K34N 0.910 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RIT1 HGNC RNASE12 493901 genome.wustl.edu 37 14 21058829 21058829 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 21058829 21058829 C T SNP RNASE12 ENST00000382999 human ensembl 70_37 -1 known silent c.54 p.V18 0.000 NULL pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE12 Uniprot_genename RNF125 54941 genome.wustl.edu 37 18 29622159 29622159 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 29622159 29622159 G T SNP RNF125 ENST00000217740 human ensembl 70_37 +1 known missense c.336 p.M112I 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF125 HGNC RNF146 81847 genome.wustl.edu 37 6 127608657 127608657 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 127608657 127608657 C G SNP RNF146 ENST00000368314 human ensembl 70_37 +1 known missense c.899 p.S300C 0.970 NULL pfam_WWE-dom,smart_Znf_RING,smart_WWE-dom_subgr,pfscan_WWE-dom,pfscan_Znf_RING - no_errors RNF146 HGNC RNF151 146310 genome.wustl.edu 37 16 2018792 2018792 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 2018792 2018792 G A SNP RNF151 ENST00000569714 human ensembl 70_37 +1 known missense c.604 p.E202K 0.996 superfamily_TRAF-like pfam_Ubox_domain,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH,pfscan_Znf_TRAF - no_errors RNF151 HGNC RNF213 57674 genome.wustl.edu 37 17 78261737 78261737 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 78261737 78261737 C T SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known nonsense c.385 p.Q129* 0.006 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC RNF213 57674 genome.wustl.edu 37 17 78328309 78328309 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 78328309 78328309 C T SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known missense c.10795 p.H3599Y 0.000 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC RNF41 10193 genome.wustl.edu 37 12 56601988 56601988 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 56601988 56601988 C T SNP RNF41 ENST00000345093 human ensembl 70_37 -1 known missense c.457 p.E153K 1.000 pfam_USP8_interacting pfam_USP8_interacting,pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors RNF41 HGNC RNPEPL1 57140 genome.wustl.edu 37 2 241516041 241516041 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 241516041 241516041 G C SNP RNPEPL1 ENST00000270357 human ensembl 70_37 +1 known missense c.907 p.E303Q 1.000 pfam_Peptidase_M1_C,superfamily_ARM-type_fold pfam_Peptidase_M1_C,pfam_Peptidase_M1_N,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEPL1 HGNC ROS1 6098 genome.wustl.edu 37 6 117658469 117658469 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 117658469 117658469 G A SNP ROS1 ENST00000368508 human ensembl 70_37 -1 known missense c.5114 p.S1705L 0.822 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 RP1L1 94137 genome.wustl.edu 37 8 10466144 10466144 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 10466144 10466144 C T SNP RP1L1 ENST00000382483 human ensembl 70_37 -1 known missense c.5464 p.G1822S 0.000 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC RPGR 6103 genome.wustl.edu 37 X 38135962 38135962 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 38135962 38135962 C T SNP RPGR ENST00000339363 human ensembl 70_37 -1 known missense c.2584 p.E862K 0.001 superfamily_Reg_csome_cond/b-lactamase_inh pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC RPL23AP82 284942 genome.wustl.edu 37 22 51237643 51237643 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 51237643 51237643 C G SNP RPL23AP82 ENST00000462238 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors AC002055.4 Clone_based_vega_gene RPL39 6170 genome.wustl.edu 37 X 118921285 118921285 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 118921285 118921285 C T SNP RPL39 ENST00000477403 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors RPL39 HGNC RPL6 6128 genome.wustl.edu 37 12 112843702 112843702 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 112843702 112843702 C T SNP RPL6 ENST00000202773 human ensembl 70_37 -1 known silent c.669 p.R223 0.997 pfam_Ribosomal_L6E,superfamily_Translation_prot_SH3-like pfam_Ribosomal_L6E,pfam_Ribosomal_L6_N,superfamily_Translation_prot_SH3-like - no_errors RPL6 HGNC RPP14 11102 genome.wustl.edu 37 3 58303748 58303748 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 58303748 58303748 C T SNP RPP14 ENST00000544156 human ensembl 70_37 +1 known silent c.408 p.F136 0.000 pfam_MaoC_deHydtase pfam_MaoC_deHydtase - no_errors RPP14 Uniprot_genename RPS6KA5 9252 genome.wustl.edu 37 14 91413850 91413850 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 91413850 91413850 C G SNP RPS6KA5 ENST00000261991 human ensembl 70_37 -1 known missense c.439 p.E147Q 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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Aminoglycoside_PTrfase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_AGC-kinase_C,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom - no_errors RPS6KA5 HGNC RPUSD2 27079 genome.wustl.edu 37 15 40865974 40865974 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 40865974 40865974 C G SNP RPUSD2 ENST00000315616 human ensembl 70_37 +1 known silent c.1152 p.L384 1.000 superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D - no_errors RPUSD2 HGNC RRP9 9136 genome.wustl.edu 37 3 51967558 51967558 + Silent SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 51967558 51967558 G T SNP RRP9 ENST00000232888 human ensembl 70_37 -1 known silent c.1392 p.L464 0.990 NULL 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 RRP9 HGNC RSAD2 91543 genome.wustl.edu 37 2 7033825 7033825 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 7033825 7033825 G C SNP RSAD2 ENST00000382040 human ensembl 70_37 +1 known silent c.912 p.L304 1.000 NULL pfam_rSAM,smart_Elp3/MiaB/NifB - no_errors RSAD2 HGNC RSL24D1 51187 genome.wustl.edu 37 15 55489063 55489063 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 55489063 55489063 C G SNP RSL24D1 ENST00000260443 human ensembl 70_37 -1 known missense c.26 p.C9S 1.000 pfam_Ribosomal_L24e_rel,smart_TRASH pfam_Ribosomal_L24e_rel,smart_TRASH - no_errors RSL24D1 HGNC RTEL1 51750 genome.wustl.edu 37 20 62324337 62324337 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 62324337 62324337 G A SNP RTEL1 ENST00000318100 human ensembl 70_37 +1 known silent c.2832 p.K944 0.916 NULL pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC RTN2 6253 genome.wustl.edu 37 19 45998373 45998373 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 45998373 45998373 G C SNP RTN2 ENST00000245923 human ensembl 70_37 -1 known nonsense c.59 p.S20* 1.000 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN2 HGNC RTTN 25914 genome.wustl.edu 37 18 67684778 67684778 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 67684778 67684778 G A SNP RTTN ENST00000255674 human ensembl 70_37 -1 known silent c.6286 p.L2096 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC RUFY3 22902 genome.wustl.edu 37 4 71659536 71659536 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 71659536 71659536 G C SNP RUFY3 ENST00000381006 human ensembl 70_37 +1 novel missense c.1372 p.E458Q 1.000 NULL pfam_Run,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,smart_Run,smart_Znf_FYVE,pfscan_Run - no_errors RUFY3 HGNC RUNDC1 146923 genome.wustl.edu 37 17 41143001 41143001 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 41143001 41143001 G A SNP RUNDC1 ENST00000361677 human ensembl 70_37 +1 known silent c.1110 p.Q370 0.648 NULL pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC1 HGNC RUNDC1 146923 genome.wustl.edu 37 17 41143037 41143037 + Silent SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 41143037 41143037 G T SNP RUNDC1 ENST00000361677 human ensembl 70_37 +1 known silent c.1146 p.L382 0.490 NULL pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC1 HGNC RYR2 6262 genome.wustl.edu 37 1 237780711 237780711 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 237780711 237780711 C T SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known silent c.5835 p.V1945 0.050 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 SAAL1 113174 genome.wustl.edu 37 11 18105253 18105253 + Silent SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 18105253 18105253 G T SNP SAAL1 ENST00000524803 human ensembl 70_37 -1 known silent c.1068 p.L356 1.000 NULL superfamily_ARM-type_fold - no_errors SAAL1 HGNC SACS 26278 genome.wustl.edu 37 13 23913856 23913856 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 23913856 23913856 G A SNP SACS ENST00000382292 human ensembl 70_37 -1 known missense c.4159 p.P1387S 0.997 NULL pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC SALL4 57167 genome.wustl.edu 37 20 50418912 50418912 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 50418912 50418912 G C SNP SALL4 ENST00000217086 human ensembl 70_37 -1 known missense c.36 p.I12M 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC SARDH 1757 genome.wustl.edu 37 9 136577743 136577743 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 136577743 136577743 G A SNP SARDH ENST00000371872 human ensembl 70_37 -1 known silent c.1326 p.I442 1.000 NULL pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C - no_errors SARDH HGNC SARM1 23098 genome.wustl.edu 37 17 26712222 26712222 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 26712222 26712222 G C SNP SARM1 ENST00000457710 human ensembl 70_37 +1 novel missense c.1456 p.E486Q 1.000 pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_2,pfam_SAM_type1,superfamily_ARM-type_fold,superfamily_TIR_dom,superfamily_SAM/pointed,smart_SAM,smart_TIR_dom,pfscan_SAM - no_errors SARM1 HGNC SARS 6301 genome.wustl.edu 37 1 109779449 109779449 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 109779449 109779449 C G SNP SARS ENST00000369923 human ensembl 70_37 +1 known missense c.1280 p.S427C 1.000 pirsf_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Ser-tRNA-synth_1_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1 - no_errors SARS HGNC SBF2 81846 genome.wustl.edu 37 11 10024173 10024173 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 10024173 10024173 G A SNP SBF2 ENST00000256190 human ensembl 70_37 -1 known missense c.683 p.S228F 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF2 HGNC SCAND3 114821 genome.wustl.edu 37 6 28543779 28543779 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 28543779 28543779 C G SNP SCAND3 ENST00000452236 human ensembl 70_37 -1 known missense c.703 p.E235Q 0.874 NULL pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC SCCPDH 51097 genome.wustl.edu 37 1 246890254 246890254 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 246890254 246890254 C T SNP SCCPDH ENST00000366510 human ensembl 70_37 +1 known missense c.251 p.S84L 1.000 pfam_Saccharopine_DH/HSpermid_syn pfam_Saccharopine_DH/HSpermid_syn - no_errors SCCPDH HGNC SCFD2 152579 genome.wustl.edu 37 4 54231379 54231379 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 54231379 54231379 G C SNP SCFD2 ENST00000401642 human ensembl 70_37 -1 known missense c.730 p.Q244E 1.000 NULL pfam_Sec1-like,superfamily_Sec1-like - no_errors SCFD2 HGNC SCN4A 6329 genome.wustl.edu 37 17 62025267 62025267 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 62025267 62025267 C G SNP SCN4A ENST00000435607 human ensembl 70_37 -1 known missense c.3301 p.D1101H 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC SCNN1G 6340 genome.wustl.edu 37 16 23197694 23197694 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 23197694 23197694 C G SNP SCNN1G ENST00000300061 human ensembl 70_37 +1 known silent c.102 p.L34 0.329 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1G HGNC SCNN1G 6340 genome.wustl.edu 37 16 23226541 23226541 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 23226541 23226541 G A SNP SCNN1G ENST00000300061 human ensembl 70_37 +1 known silent c.1701 p.Q567 1.000 tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1G HGNC SCRIB 23513 genome.wustl.edu 37 8 144889724 144889724 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 144889724 144889724 C G SNP SCRIB ENST00000320476 human ensembl 70_37 -1 known missense c.2176 p.E726Q 1.000 superfamily_PDZ pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC SDAD1 55153 genome.wustl.edu 37 4 76911940 76911940 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 76911940 76911940 G C SNP SDAD1 ENST00000356260 human ensembl 70_37 -1 known missense c.55 p.L19V 1.000 superfamily_ARM-type_fold pfam_SDA1,pfam_Uncharacterised_NUC130/133_N,superfamily_ARM-type_fold - no_errors SDAD1 HGNC SDHA 6389 genome.wustl.edu 37 5 224575 224575 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 224575 224575 G A SNP SDHA ENST00000264932 human ensembl 70_37 +1 known missense c.251 p.G84E 1.000 pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg - no_errors SDHA HGNC SDHC 6391 genome.wustl.edu 37 1 161326588 161326588 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 161326588 161326588 C T SNP SDHC ENST00000367975 human ensembl 70_37 +1 known silent c.363 p.V121 0.921 pfam_Succ_DH_Fumarate_Rdtase_TM-su,pirsf_Succ_DH_cytb560,tigrfam_Succ_DH_cytb556 pfam_Succ_DH_Fumarate_Rdtase_TM-su,pirsf_Succ_DH_cytb560,tigrfam_Succ_DH_cytb556 - no_errors SDHC HGNC SDK2 54549 genome.wustl.edu 37 17 71429875 71429875 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 71429875 71429875 C T SNP SDK2 ENST00000392650 human ensembl 70_37 -1 known silent c.1308 p.Q436 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK2 HGNC SEC14L2 23541 genome.wustl.edu 37 22 30805241 30805241 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 30805241 30805241 C G SNP SEC14L2 ENST00000312932 human ensembl 70_37 +1 known silent c.489 p.L163 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L2 HGNC SEC22B 9554 genome.wustl.edu 37 1 145116215 145116215 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 145116215 145116215 G C SNP SEC22B ENST00000453618 human ensembl 70_37 +1 known rna NULL NULL 0.945 - - - no_errors SEC22B HGNC SEC23B 10483 genome.wustl.edu 37 20 18505236 18505236 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 18505236 18505236 C T SNP SEC23B ENST00000262544 human ensembl 70_37 +1 known missense c.526 p.H176Y 1.000 pfam_Sec23/24_trunk_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Gelsolin_dom,pfam_Znf_Sec23_Sec24,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23B HGNC SEMA6C 10500 genome.wustl.edu 37 1 151106454 151106454 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 151106454 151106454 G C SNP SEMA6C ENST00000368913 human ensembl 70_37 -1 known missense c.1837 p.L613V 1.000 NULL pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6C HGNC SEMA6D 80031 genome.wustl.edu 37 15 48052058 48052058 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 48052058 48052058 C T SNP SEMA6D ENST00000316364 human ensembl 70_37 +1 known silent c.63 p.V21 1.000 NULL pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6D HGNC SEPT12 124404 genome.wustl.edu 37 16 4833397 4833397 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 4833397 4833397 C A SNP SEPT12 ENST00000587603 human ensembl 70_37 -1 known missense c.792 p.K264N 0.000 pirsf_Septin pfam_Cell_div_GTP-bd,pfam_AIG1,pfam_Cell_div_FtsK/SpoIIIE,pirsf_Septin - no_errors SEPT12 HGNC SEPT12 124404 genome.wustl.edu 37 16 4833501 4833501 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 4833501 4833501 C A SNP SEPT12 ENST00000268231 human ensembl 70_37 -1 known nonsense c.688 p.E230* 0.998 pfam_Cell_div_GTP-bd,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_AIG1,pirsf_Septin - no_errors SEPT12 HGNC SEPT3 55964 genome.wustl.edu 37 22 42385647 42385647 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 42385647 42385647 G A SNP SEPT3 ENST00000396426 human ensembl 70_37 +1 known missense c.628 p.D210N 1.000 pfam_Cell_div_GTP-bd,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,pirsf_Septin,prints_Septin3 - no_errors SEPT3 HGNC SERPINA13P 388007 genome.wustl.edu 37 14 95107197 95107197 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 95107197 95107197 G A SNP SERPINA13P ENST00000469935 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SERPINA13P HGNC SERPINC1 462 genome.wustl.edu 37 1 173878880 173878880 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 173878880 173878880 C T SNP SERPINC1 ENST00000367698 human ensembl 70_37 -1 known silent c.963 p.E321 0.018 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINC1 HGNC SERTAD3 29946 genome.wustl.edu 37 19 40946982 40946982 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 40946982 40946982 C G SNP SERTAD3 ENST00000601217 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SERTAD3 HGNC SERTAD4 56256 genome.wustl.edu 37 1 210415303 210415303 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 210415303 210415303 C T SNP SERTAD4 ENST00000367012 human ensembl 70_37 +1 known missense c.692 p.S231F 1.000 NULL pfam_SERTA,pfscan_SERTA - no_errors SERTAD4 HGNC SESN2 83667 genome.wustl.edu 37 1 28600017 28600017 + Nonsense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 28600017 28600017 C G SNP SESN2 ENST00000253063 human ensembl 70_37 +1 known nonsense c.899 p.S300* 1.000 pfam_PA26 pfam_PA26 - no_errors SESN2 HGNC SETD2 29072 genome.wustl.edu 37 3 47162374 47162374 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 47162374 47162374 G A SNP SETD2 ENST00000409792 human ensembl 70_37 -1 known missense c.3752 p.S1251L 0.995 NULL pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RNR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP - no_errors SETD2 HGNC SETD5 55209 genome.wustl.edu 37 3 9476152 9476152 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 9476152 9476152 C T SNP SETD5 ENST00000402198 human ensembl 70_37 +1 known silent c.312 p.L104 1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SETD5 HGNC SETX 23064 genome.wustl.edu 37 9 135205299 135205299 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 135205299 135205299 G C SNP SETX ENST00000372169 human ensembl 70_37 -1 known silent c.1686 p.L562 1.000 NULL NULL - no_errors SETX HGNC SH2B1 25970 genome.wustl.edu 37 16 28878683 28878683 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 28878683 28878683 C G SNP SH2B1 ENST00000322610 human ensembl 70_37 +1 known missense c.971 p.S324C 0.993 pfam_Pleckstrin_homology,smart_Pleckstrin_homology pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2B1 HGNC SH2D7 646892 genome.wustl.edu 37 15 78386532 78386532 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 78386532 78386532 C T SNP SH2D7 ENST00000328828 human ensembl 70_37 +1 novel silent c.255 p.I85 0.989 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2D7 HGNC SH3GLB1 51100 genome.wustl.edu 37 1 87185229 87185229 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 87185229 87185229 G C SNP SH3GLB1 ENST00000482504 human ensembl 70_37 +1 known missense c.254 p.R85T 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain - no_errors SH3GLB1 HGNC SHANK1 50944 genome.wustl.edu 37 19 51165386 51165386 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 51165386 51165386 C G SNP SHANK1 ENST00000391814 human ensembl 70_37 -1 known missense c.6346 p.E2116Q 0.998 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC SHANK3 85358 genome.wustl.edu 37 22 51121780 51121780 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 51121780 51121780 C T SNP SHANK3 ENST00000262795 human ensembl 70_37 +1 known missense c.898 p.R300C 0.945 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK3 HGNC SHCBP1L 81626 genome.wustl.edu 37 1 182873370 182873370 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 182873370 182873370 C T SNP SHCBP1L ENST00000367547 human ensembl 70_37 -1 known missense c.1532 p.C511Y 1.000 superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 - no_errors SHCBP1L HGNC SHROOM3 57619 genome.wustl.edu 37 4 77476856 77476856 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 77476856 77476856 G C SNP SHROOM3 ENST00000296043 human ensembl 70_37 +1 known missense c.263 p.R88T 0.882 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC SIGLEC17P 284367 genome.wustl.edu 37 19 51671575 51671575 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 51671575 51671575 C T SNP SIGLEC17P ENST00000341811 human ensembl 70_37 +1 known rna NULL NULL 0.079 - - - no_errors SIGLEC17P HGNC SIGLECL1 284369 genome.wustl.edu 37 19 51769113 51769113 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 51769113 51769113 C T SNP SIGLECL1 ENST00000316401 human ensembl 70_37 +1 known silent c.387 p.L129 0.498 NULL NULL - no_errors SIGLECL1 HGNC SIGLECL1 284369 genome.wustl.edu 37 19 51769119 51769119 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 51769119 51769119 C T SNP SIGLECL1 ENST00000316401 human ensembl 70_37 +1 known silent c.393 p.L131 0.990 NULL NULL - no_errors SIGLECL1 HGNC SIN3A 25942 genome.wustl.edu 37 15 75693150 75693150 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 75693150 75693150 C T SNP SIN3A ENST00000360439 human ensembl 70_37 -1 known missense c.1658 p.R553Q 1.000 pfam_HDAC_interact,smart_HDAC_interact pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3A HGNC SIPA1L2 57568 genome.wustl.edu 37 1 232600674 232600674 + Missense_Mutation SNP T T C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 232600674 232600674 T C SNP SIPA1L2 ENST00000262861 human ensembl 70_37 -1 known missense c.2732 p.K911R 1.000 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L2 HGNC SIPA1L3 23094 genome.wustl.edu 37 19 38579389 38579389 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 38579389 38579389 G C SNP SIPA1L3 ENST00000222345 human ensembl 70_37 +1 known missense c.1563 p.E521D 1.000 NULL pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L3 HGNC SKAP1 8631 genome.wustl.edu 37 17 46214610 46214610 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 46214610 46214610 C T SNP SKAP1 ENST00000336915 human ensembl 70_37 -1 known silent c.1068 p.V356 0.988 NULL pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,prints_SH3_domain - no_errors SKAP1 HGNC SLC13A1 6561 genome.wustl.edu 37 7 122821030 122821030 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 122821030 122821030 C G SNP SLC13A1 ENST00000194130 human ensembl 70_37 -1 known missense c.225 p.K75N 0.000 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A1 HGNC SLC13A5 284111 genome.wustl.edu 37 17 6589534 6589534 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 6589534 6589534 C G SNP SLC13A5 ENST00000433363 human ensembl 70_37 -1 known missense c.1699 p.E567Q 0.001 NULL pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A5 HGNC SLC15A3 51296 genome.wustl.edu 37 11 60714117 60714117 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 60714117 60714117 G C SNP SLC15A3 ENST00000227880 human ensembl 70_37 -1 known silent c.735 p.L245 1.000 pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC15A3 HGNC SLC15A5 729025 genome.wustl.edu 37 12 16430513 16430513 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 16430513 16430513 G A SNP SLC15A5 ENST00000344941 human ensembl 70_37 -1 novel missense c.107 p.S36F 0.006 NULL pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt - no_errors SLC15A5 HGNC SLC16A11 162515 genome.wustl.edu 37 17 6945690 6945690 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 6945690 6945690 C G SNP SLC16A11 ENST00000308009 human ensembl 70_37 -1 known missense c.811 p.D271H 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A11 HGNC SLC16A13 201232 genome.wustl.edu 37 17 6940071 6940071 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 6940071 6940071 G A SNP SLC16A13 ENST00000308027 human ensembl 70_37 +1 known silent c.225 p.T75 0.903 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Atg22-like,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A13 HGNC SLC17A2 10246 genome.wustl.edu 37 6 25916060 25916060 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 25916060 25916060 C G SNP SLC17A2 ENST00000377850 human ensembl 70_37 -1 known missense c.967 p.A323P 0.160 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A2 HGNC SLC17A8 246213 genome.wustl.edu 37 12 100784871 100784871 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 100784871 100784871 C T SNP SLC17A8 ENST00000323346 human ensembl 70_37 +1 known silent c.447 p.F149 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A8 HGNC SLC18A2 6571 genome.wustl.edu 37 10 119036742 119036742 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 119036742 119036742 C G SNP SLC18A2 ENST00000298472 human ensembl 70_37 +1 known missense c.1510 p.P504A 0.990 NULL pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A2 HGNC SLC1A5 6510 genome.wustl.edu 37 19 47278773 47278773 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 47278773 47278773 G C SNP SLC1A5 ENST00000542575 human ensembl 70_37 -1 known silent c.1620 p.V540 1.000 NULL pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A5 HGNC SLC22A10 387775 genome.wustl.edu 37 11 63072163 63072163 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 63072163 63072163 G C SNP SLC22A10 ENST00000332793 human ensembl 70_37 +1 known missense c.1400 p.R467T 0.000 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A10 HGNC SLC22A15 55356 genome.wustl.edu 37 1 116574197 116574197 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 116574197 116574197 C A SNP SLC22A15 ENST00000369503 human ensembl 70_37 +1 known missense c.939 p.F313L 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A15 HGNC SLC23A2 9962 genome.wustl.edu 37 20 4864395 4864395 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 4864395 4864395 C T SNP SLC23A2 ENST00000338244 human ensembl 70_37 -1 known silent c.717 p.L239 0.999 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A2 HGNC SLC25A18 83733 genome.wustl.edu 37 22 18069913 18069913 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 18069913 18069913 C G SNP SLC25A18 ENST00000327451 human ensembl 70_37 +1 known missense c.421 p.Q141E 0.757 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 SLC25A18 HGNC SLC25A37 51312 genome.wustl.edu 37 8 23429092 23429092 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 23429092 23429092 C T SNP SLC25A37 ENST00000519973 human ensembl 70_37 +1 known silent c.741 p.L247 0.047 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A37 HGNC SLC27A5 10998 genome.wustl.edu 37 19 59021320 59021320 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 59021320 59021320 C G SNP SLC27A5 ENST00000263093 human ensembl 70_37 -1 known missense c.951 p.K317N 0.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A5 HGNC SLC2A8 29988 genome.wustl.edu 37 9 130166349 130166349 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 130166349 130166349 G A SNP SLC2A8 ENST00000485806 human ensembl 70_37 +1 known rna NULL NULL 0.993 - - - no_errors SLC2A8 HGNC SLC30A5 64924 genome.wustl.edu 37 5 68417706 68417706 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 68417706 68417706 G A SNP SLC30A5 ENST00000396591 human ensembl 70_37 +1 known missense c.1755 p.M585I 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A5 HGNC SLC35B1 10237 genome.wustl.edu 37 17 47785258 47785258 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 47785258 47785258 G A SNP SLC35B1 ENST00000415270 human ensembl 70_37 -1 known missense c.49 p.P17S 0.978 NULL pfam_UAA,pfam_DMT,pfam_DUF250 - no_errors SLC35B1 HGNC SLC35E1 79939 genome.wustl.edu 37 19 16664393 16664393 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 16664393 16664393 C T SNP SLC35E1 ENST00000600356 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors SLC35E1 HGNC SLC37A1 54020 genome.wustl.edu 37 21 43955658 43955658 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 43955658 43955658 C T SNP SLC37A1 ENST00000352133 human ensembl 70_37 +1 known silent c.348 p.L116 0.997 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC37A1 HGNC SLC37A3 84255 genome.wustl.edu 37 7 140051183 140051183 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 140051183 140051183 C T SNP SLC37A3 ENST00000326232 human ensembl 70_37 -1 known missense c.772 p.E258K 0.822 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC37A3 HGNC SLC38A5 92745 genome.wustl.edu 37 X 48325234 48325234 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 48325234 48325234 G A SNP SLC38A5 ENST00000317669 human ensembl 70_37 -1 known silent c.271 p.L91 0.976 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A5 HGNC SLC39A11 201266 genome.wustl.edu 37 17 70645373 70645373 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 70645373 70645373 G A SNP SLC39A11 ENST00000542342 human ensembl 70_37 -1 known missense c.727 p.P243S 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A11 HGNC SLC39A5 283375 genome.wustl.edu 37 12 56630940 56630940 + Missense_Mutation SNP T T C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 56630940 56630940 T C SNP SLC39A5 ENST00000266980 human ensembl 70_37 +1 known missense c.1295 p.F432S 0.999 pfam_ZIP pfam_ZIP - no_errors SLC39A5 HGNC SLC39A7 7922 genome.wustl.edu 37 6 33171585 33171585 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 33171585 33171585 G C SNP SLC39A7 ENST00000374675 human ensembl 70_37 +1 known missense c.1405 p.E469Q 0.999 NULL pfam_ZIP,prints_Kininogen - no_errors SLC39A7 HGNC SLC44A4 80736 genome.wustl.edu 37 6 31832357 31832357 + RNA DEL A A - TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 31832357 31832357 A - DEL SLC44A4 ENST00000487680 human ensembl 70_37 -1 putative rna NULL NULL 0.055 - - - no_errors SLC44A4 HGNC SLC52A3 113278 genome.wustl.edu 37 20 744585 744585 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 744585 744585 C T SNP SLC52A3 ENST00000217254 human ensembl 70_37 -1 known silent c.630 p.E210 0.995 NULL pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A3 HGNC SLC5A3 6526 genome.wustl.edu 37 21 35469468 35469468 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 35469468 35469468 C G SNP SLC5A3 ENST00000381151 human ensembl 70_37 +1 known missense c.1971 p.F657L 0.998 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A3 HGNC SLC6A8 6535 genome.wustl.edu 37 X 152954237 152954237 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 152954237 152954237 G T SNP SLC6A8 ENST00000253122 human ensembl 70_37 +1 known missense c.208 p.V70L 0.994 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_creatine - no_errors SLC6A8 HGNC SLC6A8 6535 genome.wustl.edu 37 X 152959915 152959915 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 152959915 152959915 G C SNP SLC6A8 ENST00000485324 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC6A8 HGNC SLC7A14 57709 genome.wustl.edu 37 3 170204088 170204088 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 170204088 170204088 C G SNP SLC7A14 ENST00000231706 human ensembl 70_37 -1 known missense c.829 p.E277Q 1.000 pfam_AA-permease_dom pfam_AA-permease_dom - no_errors SLC7A14 HGNC SLC8A2 6543 genome.wustl.edu 37 19 47960516 47960516 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 47960516 47960516 G A SNP SLC8A2 ENST00000236877 human ensembl 70_37 -1 known silent c.1011 p.I337 1.000 tigrfam_Na_Ca_Ex pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A2 HGNC SLC9A9 285195 genome.wustl.edu 37 3 143271214 143271214 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 143271214 143271214 C G SNP SLC9A9 ENST00000316549 human ensembl 70_37 -1 known missense c.1079 p.R360T 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A9 HGNC SLCO4A1 28231 genome.wustl.edu 37 20 61290116 61290116 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 61290116 61290116 G A SNP SLCO4A1 ENST00000217159 human ensembl 70_37 +1 known missense c.884 p.R295Q 0.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4A1 HGNC SLIT3 6586 genome.wustl.edu 37 5 168114084 168114084 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 168114084 168114084 C T SNP SLIT3 ENST00000519560 human ensembl 70_37 -1 known missense c.3214 p.E1072K 1.000 smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC SLITRK1 114798 genome.wustl.edu 37 13 84454368 84454368 + Silent SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 84454368 84454368 G T SNP SLITRK1 ENST00000377084 human ensembl 70_37 -1 known silent c.1275 p.L425 0.999 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC SLITRK1 114798 genome.wustl.edu 37 13 84454386 84454386 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 84454386 84454386 G C SNP SLITRK1 ENST00000377084 human ensembl 70_37 -1 known missense c.1257 p.F419L 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC SLITRK1 114798 genome.wustl.edu 37 13 84454440 84454440 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 84454440 84454440 G A SNP SLITRK1 ENST00000377084 human ensembl 70_37 -1 known silent c.1203 p.L401 0.995 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC SLITRK1 114798 genome.wustl.edu 37 13 84454449 84454449 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 84454449 84454449 G A SNP SLITRK1 ENST00000377084 human ensembl 70_37 -1 known silent c.1194 p.Y398 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC SLITRK1 114798 genome.wustl.edu 37 13 84454521 84454521 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 84454521 84454521 G C SNP SLITRK1 ENST00000377084 human ensembl 70_37 -1 known silent c.1122 p.L374 0.894 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC SLITRK1 114798 genome.wustl.edu 37 13 84454935 84454935 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 84454935 84454935 G A SNP SLITRK1 ENST00000377084 human ensembl 70_37 -1 known silent c.708 p.I236 0.998 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC SLITRK1 114798 genome.wustl.edu 37 13 84455052 84455052 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 84455052 84455052 G A SNP SLITRK1 ENST00000377084 human ensembl 70_37 -1 known silent c.591 p.V197 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC SLITRK3 22865 genome.wustl.edu 37 3 164906555 164906555 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 164906555 164906555 G A SNP SLITRK3 ENST00000241274 human ensembl 70_37 -1 known silent c.2064 p.F688 0.927 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC SLITRK6 84189 genome.wustl.edu 37 13 86368731 86368731 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 86368731 86368731 C T SNP SLITRK6 ENST00000400286 human ensembl 70_37 -1 known missense c.1913 p.R638K 0.997 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC SLX4 84464 genome.wustl.edu 37 16 3656621 3656621 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 3656621 3656621 G A SNP SLX4 ENST00000294008 human ensembl 70_37 -1 known missense c.614 p.T205I 0.017 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC SMAP2 64744 genome.wustl.edu 37 1 40887752 40887752 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 40887752 40887752 C T SNP SMAP2 ENST00000372718 human ensembl 70_37 +1 known silent c.1269 p.L423 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP2 HGNC SMARCA2 6595 genome.wustl.edu 37 9 2104063 2104063 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 2104063 2104063 G C SNP SMARCA2 ENST00000349721 human ensembl 70_37 +1 known missense c.3186 p.L1062F 0.999 pfscan_Helicase_C pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC SMC4 10051 genome.wustl.edu 37 3 160135675 160135675 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 160135675 160135675 C G SNP SMC4 ENST00000344722 human ensembl 70_37 +1 known silent c.1602 p.L534 0.977 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC SMEK1 55671 genome.wustl.edu 37 14 91928486 91928486 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 91928486 91928486 C G SNP SMEK1 ENST00000554943 human ensembl 70_37 -1 known missense c.2071 p.E691Q 1.000 NULL pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK1 HGNC SMURF2 64750 genome.wustl.edu 37 17 62594576 62594576 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 62594576 62594576 C G SNP SMURF2 ENST00000262435 human ensembl 70_37 -1 known missense c.124 p.D42H 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors SMURF2 HGNC SNORD115-26 100033802 genome.wustl.edu 37 15 25463777 25463777 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 25463777 25463777 G C SNP SNORD115-26 ENST00000365067 human ensembl 70_37 +1 known rna NULL NULL 0.034 - - - no_errors SNORD115-26 HGNC SNX29 92017 genome.wustl.edu 37 16 12571627 12571627 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 12571627 12571627 G A SNP SNX29 ENST00000306030 human ensembl 70_37 +1 known missense c.934 p.E312K 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX29 HGNC SOAT2 8435 genome.wustl.edu 37 12 53509913 53509913 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 53509913 53509913 G A SNP SOAT2 ENST00000301466 human ensembl 70_37 +1 known silent c.741 p.L247 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors SOAT2 HGNC SON 6651 genome.wustl.edu 37 21 34942133 34942133 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 34942133 34942133 C G SNP SON ENST00000467616 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SON HGNC SORL1 6653 genome.wustl.edu 37 11 121384885 121384885 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 121384885 121384885 G A SNP SORL1 ENST00000260197 human ensembl 70_37 +1 known missense c.1066 p.E356K 1.000 smart_VPS10 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors SORL1 HGNC SOS2 6655 genome.wustl.edu 37 14 50612206 50612206 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 50612206 50612206 G C SNP SOS2 ENST00000216373 human ensembl 70_37 -1 known silent c.2493 p.L831 0.874 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC SP100 6672 genome.wustl.edu 37 2 231313845 231313845 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 231313845 231313845 C T SNP SP100 ENST00000340126 human ensembl 70_37 +1 known missense c.566 p.S189L 0.000 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP100 HGNC SPAG17 200162 genome.wustl.edu 37 1 118548123 118548123 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 118548123 118548123 C G SNP SPAG17 ENST00000336338 human ensembl 70_37 -1 known missense c.4690 p.E1564Q 0.029 NULL NULL - no_errors SPAG17 HGNC SPAG6 9576 genome.wustl.edu 37 10 22634677 22634677 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 22634677 22634677 G A SNP SPAG6 ENST00000376603 human ensembl 70_37 +1 known silent c.51 p.R17 0.993 NULL pfam_Armadillo,pfam_HEAT,pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo - no_errors SPAG6 HGNC SPATA31E1 286234 genome.wustl.edu 37 9 90500620 90500620 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 90500620 90500620 C T SNP SPATA31E1 ENST00000325643 human ensembl 70_37 +1 known silent c.1218 p.F406 0.009 NULL NULL - no_errors SPATA31E1 HGNC SPEN 23013 genome.wustl.edu 37 1 16257569 16257569 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 16257569 16257569 G T SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.4834 p.D1612Y 0.190 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC SPEN 23013 genome.wustl.edu 37 1 16257893 16257893 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 16257893 16257893 G C SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.5158 p.E1720Q 0.070 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC SPERT 220082 genome.wustl.edu 37 13 46288084 46288084 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 46288084 46288084 C T SNP SPERT ENST00000310521 human ensembl 70_37 +1 known silent c.924 p.F308 0.044 NULL NULL - no_errors SPERT HGNC SPESP1 246777 genome.wustl.edu 37 15 69238687 69238687 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 69238687 69238687 G A SNP SPESP1 ENST00000310673 human ensembl 70_37 +1 known missense c.814 p.E272K 0.873 NULL NULL - no_errors SPESP1 HGNC SPG11 80208 genome.wustl.edu 37 15 44855359 44855359 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 44855359 44855359 G A SNP SPG11 ENST00000261866 human ensembl 70_37 -1 known missense c.7292 p.P2431L 1.000 NULL NULL - no_errors SPG11 HGNC SPG11 80208 genome.wustl.edu 37 15 44881468 44881468 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 44881468 44881468 C T SNP SPG11 ENST00000261866 human ensembl 70_37 -1 known missense c.4888 p.E1630K 0.934 NULL NULL - no_errors SPG11 HGNC SPG11 80208 genome.wustl.edu 37 15 44941199 44941199 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 44941199 44941199 G C SNP SPG11 ENST00000261866 human ensembl 70_37 -1 known silent c.1467 p.L489 0.508 NULL NULL - no_errors SPG11 HGNC SPTA1 6708 genome.wustl.edu 37 1 158581038 158581038 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 158581038 158581038 C T SNP SPTA1 ENST00000485680 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors SPTA1 HGNC SPTA1 6708 genome.wustl.edu 37 1 158596788 158596788 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 158596788 158596788 C T SNP SPTA1 ENST00000368148 human ensembl 70_37 -1 known missense c.5674 p.E1892K 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC SPTBN1 6711 genome.wustl.edu 37 2 54874325 54874325 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 54874325 54874325 G A SNP SPTBN1 ENST00000356805 human ensembl 70_37 +1 known missense c.4924 p.E1642K 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC SPTBN5 51332 genome.wustl.edu 37 15 42171994 42171994 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 42171994 42171994 C T SNP SPTBN5 ENST00000320955 human ensembl 70_37 -1 known silent c.2880 p.L960 0.998 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC SRP72 6731 genome.wustl.edu 37 4 57344554 57344554 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 57344554 57344554 G A SNP SRP72 ENST00000342756 human ensembl 70_37 +1 known missense c.652 p.E218K 1.000 NULL pfam_Signal_recog_part_SRP72_RNA-bd,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SRP72 HGNC SRP72 6731 genome.wustl.edu 37 4 57354143 57354143 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 57354143 57354143 G C SNP SRP72 ENST00000342756 human ensembl 70_37 +1 known missense c.1188 p.L396F 1.000 NULL pfam_Signal_recog_part_SRP72_RNA-bd,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SRP72 HGNC SRPK3 26576 genome.wustl.edu 37 X 153049643 153049643 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 153049643 153049643 G C SNP SRPK3 ENST00000370101 human ensembl 70_37 +1 known missense c.1122 p.E374D 0.229 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors SRPK3 HGNC SRRM2 23524 genome.wustl.edu 37 16 2812793 2812793 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 2812793 2812793 C A SNP SRRM2 ENST00000301740 human ensembl 70_37 +1 known missense c.2264 p.S755Y 0.998 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC SRRM2 23524 genome.wustl.edu 37 16 2813042 2813042 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 2813042 2813042 C T SNP SRRM2 ENST00000301740 human ensembl 70_37 +1 known missense c.2513 p.S838L 0.042 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC SRRM2 23524 genome.wustl.edu 37 16 2813050 2813050 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 2813050 2813050 C T SNP SRRM2 ENST00000301740 human ensembl 70_37 +1 known missense c.2521 p.H841Y 0.282 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC SRRT 51593 genome.wustl.edu 37 7 100485023 100485023 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 100485023 100485023 G A SNP SRRT ENST00000388793 human ensembl 70_37 +1 known silent c.2055 p.Q685 1.000 pfam_Arsenite-R_2 pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC SRSF2 6427 genome.wustl.edu 37 17 74733038 74733038 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 74733038 74733038 C T SNP SRSF2 ENST00000359995 human ensembl 70_37 -1 known missense c.205 p.E69K 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF2 HGNC SRSF6 6431 genome.wustl.edu 37 20 42086761 42086761 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 42086761 42086761 G A SNP SRSF6 ENST00000244020 human ensembl 70_37 +1 known missense c.88 p.E30K 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF6 HGNC SSFA2 6744 genome.wustl.edu 37 2 182780221 182780221 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 182780221 182780221 C G SNP SSFA2 ENST00000431877 human ensembl 70_37 +1 known missense c.1854 p.I618M 0.000 NULL NULL - no_errors SSFA2 HGNC SSR2 6746 genome.wustl.edu 37 1 155988069 155988069 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 155988069 155988069 C T SNP SSR2 ENST00000295702 human ensembl 70_37 -1 known silent c.246 p.R82 0.960 pfam_TRAP_beta,pirsf_TRAP_beta pfam_TRAP_beta,pirsf_TRAP_beta - no_errors SSR2 HGNC ST6GALNAC4 27090 genome.wustl.edu 37 9 130678616 130678616 + RNA SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 130678616 130678616 G T SNP ST6GALNAC4 ENST00000479747 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors ST6GALNAC4 HGNC STAG3 10734 genome.wustl.edu 37 7 99780363 99780363 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 99780363 99780363 G C SNP STAG3 ENST00000317296 human ensembl 70_37 +1 known missense c.237 p.K79N 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG3 HGNC STAG3L4 64940 genome.wustl.edu 37 7 66774620 66774620 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 66774620 66774620 G A SNP STAG3L4 ENST00000416602 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors STAG3L4 HGNC STAT2 6773 genome.wustl.edu 37 12 56737674 56737674 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 56737674 56737674 G A SNP STAT2 ENST00000314128 human ensembl 70_37 -1 known missense c.2348 p.S783L 0.000 pfam_STAT2_C pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT2 HGNC STAT2 6773 genome.wustl.edu 37 12 56740733 56740733 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 56740733 56740733 G A SNP STAT2 ENST00000314128 human ensembl 70_37 -1 known silent c.1731 p.I577 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT2 HGNC STK38L 23012 genome.wustl.edu 37 12 27467972 27467972 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 27467972 27467972 G C SNP STK38L ENST00000389032 human ensembl 70_37 +1 known missense c.697 p.G233R 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_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors STK38L HGNC STRADA 92335 genome.wustl.edu 37 17 61788121 61788121 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 61788121 61788121 C T SNP STRADA ENST00000336174 human ensembl 70_37 -1 known missense c.424 p.E142K 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 STRADA HGNC STX12 23673 genome.wustl.edu 37 1 28148834 28148834 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 28148834 28148834 G A SNP STX12 ENST00000373943 human ensembl 70_37 +1 known silent c.825 p.T275 0.998 NULL pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX12 HGNC STXBP4 252983 genome.wustl.edu 37 17 53150360 53150360 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 53150360 53150360 G A SNP STXBP4 ENST00000376352 human ensembl 70_37 +1 known missense c.1111 p.E371K 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 STXBP5 134957 genome.wustl.edu 37 6 147635411 147635411 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 147635411 147635411 C T SNP STXBP5 ENST00000321680 human ensembl 70_37 +1 known silent c.1305 p.I435 0.997 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5 HGNC SUMO3 6612 genome.wustl.edu 37 21 46225784 46225784 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 46225784 46225784 G A SNP SUMO3 ENST00000479153 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SUMO3 HGNC SUN5 140732 genome.wustl.edu 37 20 31571708 31571708 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 31571708 31571708 G T SNP SUN5 ENST00000356173 human ensembl 70_37 -1 known missense c.1032 p.S344R 0.998 pfam_Sad1_UNC_C,superfamily_Galactose-bd-like pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN5 HGNC SUPT5H 6829 genome.wustl.edu 37 19 39957123 39957123 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 39957123 39957123 G C SNP SUPT5H ENST00000432763 human ensembl 70_37 +1 known missense c.880 p.D294H 1.000 smart_KOW,pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC SUPT6H 6830 genome.wustl.edu 37 17 27017196 27017196 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 27017196 27017196 G C SNP SUPT6H ENST00000314616 human ensembl 70_37 +1 known missense c.3439 p.E1147Q 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC SYCP2 10388 genome.wustl.edu 37 20 58455490 58455490 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 58455490 58455490 C G SNP SYCP2 ENST00000357552 human ensembl 70_37 -1 known missense c.2809 p.D937H 1.000 NULL NULL - no_errors SYCP2 HGNC SYN3 8224 genome.wustl.edu 37 22 33327449 33327449 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 33327449 33327449 C G SNP SYN3 ENST00000332840 human ensembl 70_37 -1 known missense c.387 p.L129F 1.000 pfam_Synapsin_pre-ATP-grasp_dom,superfamily_PreATP-grasp_fold,prints_Synapsin pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_fold,prints_Synapsin - no_errors SYN3 HGNC SYNE1 23345 genome.wustl.edu 37 6 152737793 152737793 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 152737793 152737793 C T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.5779 p.D1927N 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC SYNE1 23345 genome.wustl.edu 37 6 152738138 152738138 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 152738138 152738138 C T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.5434 p.E1812K 0.997 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC SYNE2 23224 genome.wustl.edu 37 14 64494308 64494308 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 64494308 64494308 C T SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known silent c.6511 p.L2171 0.997 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC SYNE2 23224 genome.wustl.edu 37 14 64600860 64600860 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 64600860 64600860 C T SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.14588 p.S4863F 1.000 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC SYNE2 23224 genome.wustl.edu 37 14 64680939 64680939 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 64680939 64680939 G A SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.19084 p.E6362K 1.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC SYNRG 11276 genome.wustl.edu 37 17 35879064 35879064 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 35879064 35879064 G A SNP SYNRG ENST00000339208 human ensembl 70_37 -1 known silent c.3924 p.L1308 1.000 NULL smart_EPS15_homology,pfscan_EPS15_homology - no_errors SYNRG HGNC SYS1 90196 genome.wustl.edu 37 20 43994170 43994170 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 43994170 43994170 G C SNP SYS1 ENST00000479779 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors SYS1 HGNC SYT5 6861 genome.wustl.edu 37 19 55689700 55689700 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 55689700 55689700 G C SNP SYT5 ENST00000354308 human ensembl 70_37 -1 known nonsense c.116 p.S39* 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT5 HGNC SYT8 90019 genome.wustl.edu 37 11 1853069 1853069 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 1853069 1853069 C T SNP SYT8 ENST00000535046 human ensembl 70_37 +1 known silent c.387 p.F129 0.000 NULL NULL - no_errors SYT8 HGNC SYT9 143425 genome.wustl.edu 37 11 7439255 7439255 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 7439255 7439255 G C SNP SYT9 ENST00000318881 human ensembl 70_37 +1 known missense c.1233 p.K411N 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_Synaptotagmin,prints_C2_dom - no_errors SYT9 HGNC SYTL2 54843 genome.wustl.edu 37 11 85436841 85436841 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 85436841 85436841 G T SNP SYTL2 ENST00000359152 human ensembl 70_37 -1 known missense c.2231 p.P744H 0.002 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYTL2 HGNC SYTL2 54843 genome.wustl.edu 37 11 85436849 85436849 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 85436849 85436849 G A SNP SYTL2 ENST00000359152 human ensembl 70_37 -1 known silent c.2223 p.V741 0.002 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYTL2 HGNC TACR2 6865 genome.wustl.edu 37 10 71164665 71164665 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 71164665 71164665 C G SNP TACR2 ENST00000373306 human ensembl 70_37 -1 known missense c.1114 p.E372Q 0.624 prints_NK2_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK2_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors TACR2 HGNC TAF1 6872 genome.wustl.edu 37 X 70613181 70613181 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 70613181 70613181 G A SNP TAF1 ENST00000449580 human ensembl 70_37 +1 known missense c.3079 p.D1027N 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC TAF1L 138474 genome.wustl.edu 37 9 32633691 32633691 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 32633691 32633691 G C SNP TAF1L ENST00000242310 human ensembl 70_37 -1 known missense c.1887 p.I629M 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 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 TAF4B 6875 genome.wustl.edu 37 18 23901074 23901074 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 23901074 23901074 G C SNP TAF4B ENST00000269142 human ensembl 70_37 +1 known silent c.2043 p.V681 1.000 pfam_TAF4,superfamily_Histone-fold pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4B HGNC TAF6L 10629 genome.wustl.edu 37 11 62553839 62553839 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 62553839 62553839 C G SNP TAF6L ENST00000294168 human ensembl 70_37 +1 known missense c.1068 p.H356Q 1.000 NULL pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd - no_errors TAF6L HGNC TANC2 26115 genome.wustl.edu 37 17 61498543 61498543 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 61498543 61498543 G C SNP TANC2 ENST00000424789 human ensembl 70_37 +1 known missense c.5200 p.D1734H 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC TAOK2 9344 genome.wustl.edu 37 16 29993184 29993184 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 29993184 29993184 G C SNP TAOK2 ENST00000308893 human ensembl 70_37 +1 known missense c.754 p.E252Q 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 TAOK2 HGNC TAOK2 9344 genome.wustl.edu 37 16 29994587 29994587 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 29994587 29994587 G C SNP TAOK2 ENST00000308893 human ensembl 70_37 +1 known missense c.1194 p.E398D 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TAOK2 HGNC TAOK3 51347 genome.wustl.edu 37 12 118597971 118597971 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 118597971 118597971 C G SNP TAOK3 ENST00000392533 human ensembl 70_37 -1 known missense c.2332 p.E778Q 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TAOK3 HGNC TAOK3 51347 genome.wustl.edu 37 12 118598015 118598015 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 118598015 118598015 C G SNP TAOK3 ENST00000392533 human ensembl 70_37 -1 known missense c.2288 p.R763T 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TAOK3 HGNC TAS2R42 353164 genome.wustl.edu 37 12 11338902 11338902 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 11338902 11338902 C T SNP TAS2R42 ENST00000334266 human ensembl 70_37 -1 known silent c.642 p.L214 0.032 pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R42 HGNC TBC1D5 9779 genome.wustl.edu 37 3 17413625 17413625 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 17413625 17413625 C T SNP TBC1D5 ENST00000253692 human ensembl 70_37 -1 known missense c.937 p.D313N 1.000 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 TBC1D5 HGNC TCEAL3 85012 genome.wustl.edu 37 X 102863560 102863560 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 102863560 102863560 G A SNP TCEAL3 ENST00000477014 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TCEAL3 HGNC TCEB1 6921 genome.wustl.edu 37 8 74868231 74868231 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 74868231 74868231 C T SNP TCEB1 ENST00000520242 human ensembl 70_37 -1 known silent c.63 p.L21 1.000 pfam_Skp1_comp_POZ,superfamily_BTB/POZ_fold,smart_Skp1_comp pfam_Skp1_comp_POZ,superfamily_BTB/POZ_fold,smart_Skp1_comp - no_errors TCEB1 HGNC TCEB3B 51224 genome.wustl.edu 37 18 44559777 44559777 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 44559777 44559777 C G SNP TCEB3B ENST00000332567 human ensembl 70_37 -1 known missense c.1859 p.R620T 0.014 pfam_RNA_pol_II_trans_fac_SIII_A pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC TCEB3B 51224 genome.wustl.edu 37 18 44560325 44560325 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 44560325 44560325 C T SNP TCEB3B ENST00000332567 human ensembl 70_37 -1 known silent c.1311 p.Q437 0.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC TCHH 7062 genome.wustl.edu 37 1 152082912 152082912 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 152082912 152082912 C G SNP TCHH ENST00000368804 human ensembl 70_37 -1 known missense c.2781 p.E927D 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC TDRD3 81550 genome.wustl.edu 37 13 61041493 61041493 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 61041493 61041493 G A SNP TDRD3 ENST00000535286 human ensembl 70_37 +1 known missense c.475 p.E159K 1.000 NULL pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TDRD3 HGNC TDRD5 163589 genome.wustl.edu 37 1 179659947 179659947 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 179659947 179659947 G C SNP TDRD5 ENST00000444136 human ensembl 70_37 +1 known missense c.2977 p.E993Q 0.234 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD5 HGNC TDRD6 221400 genome.wustl.edu 37 6 46657139 46657139 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 46657139 46657139 G A SNP TDRD6 ENST00000316081 human ensembl 70_37 +1 known missense c.1274 p.G425E 1.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC TELO2 9894 genome.wustl.edu 37 16 1555439 1555439 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 1555439 1555439 C G SNP TELO2 ENST00000262319 human ensembl 70_37 +1 known missense c.1871 p.S624C 0.998 NULL pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold - no_errors TELO2 HGNC TELO2 9894 genome.wustl.edu 37 16 1555520 1555520 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 1555520 1555520 C G SNP TELO2 ENST00000262319 human ensembl 70_37 +1 known missense c.1952 p.S651C 0.004 NULL pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold - no_errors TELO2 HGNC TENM4 26011 genome.wustl.edu 37 11 78673251 78673251 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 78673251 78673251 C G SNP TENM4 ENST00000533013 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors TENM4 HGNC TEP1 7011 genome.wustl.edu 37 14 20852329 20852329 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 20852329 20852329 G A SNP TEP1 ENST00000262715 human ensembl 70_37 -1 known silent c.3402 p.F1134 0.993 NULL 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 TERC 7012 genome.wustl.edu 37 3 169482826 169482826 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 169482826 169482826 C T SNP TERC ENST00000363312 human ensembl 70_37 -1 known rna NULL NULL 0.022 - - - no_errors TERC HGNC TET1 80312 genome.wustl.edu 37 10 70332597 70332597 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 70332597 70332597 G C SNP TET1 ENST00000373644 human ensembl 70_37 +1 known missense c.502 p.D168H 0.001 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC TET1 80312 genome.wustl.edu 37 10 70441196 70441196 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 70441196 70441196 G A SNP TET1 ENST00000373644 human ensembl 70_37 +1 known missense c.4865 p.R1622Q 0.002 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC TEX13B 56156 genome.wustl.edu 37 X 107225195 107225195 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 107225195 107225195 C A SNP TEX13B ENST00000302917 human ensembl 70_37 -1 known nonsense c.163 p.E55* 0.010 NULL NULL - no_errors TEX13B HGNC TFAP2D 83741 genome.wustl.edu 37 6 50740508 50740508 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 50740508 50740508 G A SNP TFAP2D ENST00000008391 human ensembl 70_37 +1 known silent c.1290 p.S430 0.991 NULL pfam_TF_AP2_C,prints_TF_AP2_C - no_errors TFAP2D HGNC TG 7038 genome.wustl.edu 37 8 134146988 134146988 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 134146988 134146988 G A SNP TG ENST00000220616 human ensembl 70_37 +1 known missense c.8257 p.E2753K 0.002 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC TGM4 7047 genome.wustl.edu 37 3 44935068 44935068 + Splice_Site SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 44935068 44935068 G C SNP TGM4 ENST00000296125 human ensembl 70_37 +1 known splice_site c.431-1 e5-1 0.999 - - - no_errors TGM4 HGNC THAP7-AS1 439931 genome.wustl.edu 37 22 21356609 21356609 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 21356609 21356609 C G SNP THAP7-AS1 ENST00000429962 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors THAP7-AS1 HGNC THAP9 79725 genome.wustl.edu 37 4 83827476 83827476 + Splice_Site SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 83827476 83827476 G A SNP THAP9 ENST00000302236 human ensembl 70_37 +1 known splice_site c.277-1 e3-1 0.748 - - - no_errors THAP9 HGNC THAP9 79725 genome.wustl.edu 37 4 83827621 83827621 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 83827621 83827621 G C SNP THAP9 ENST00000302236 human ensembl 70_37 +1 known missense c.421 p.E141Q 0.998 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP9 HGNC THAP9 79725 genome.wustl.edu 37 4 83827747 83827747 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 83827747 83827747 G A SNP THAP9 ENST00000302236 human ensembl 70_37 +1 known missense c.547 p.E183K 1.000 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP9 HGNC THOC2 57187 genome.wustl.edu 37 X 122778431 122778431 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 122778431 122778431 G C SNP THOC2 ENST00000245838 human ensembl 70_37 -1 known missense c.1656 p.I552M 1.000 NULL pfam_THO_THOC2_C,pfam_THO_THOC2_N - no_errors THOC2 HGNC THOC3 84321 genome.wustl.edu 37 5 175395007 175395007 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 175395007 175395007 G A SNP THOC3 ENST00000265097 human ensembl 70_37 -1 known missense c.205 p.R69C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,pfam_PD40,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors THOC3 HGNC THSD7A 221981 genome.wustl.edu 37 7 11521436 11521436 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 11521436 11521436 G C SNP THSD7A ENST00000423059 human ensembl 70_37 -1 known missense c.1996 p.L666V 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC THYN1 29087 genome.wustl.edu 37 11 134118818 134118818 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 134118818 134118818 G A SNP THYN1 ENST00000341541 human ensembl 70_37 -1 known silent c.516 p.F172 1.000 pfam_EVE_domain,superfamily_PUA-like_domain pfam_EVE_domain,superfamily_PUA-like_domain - no_errors THYN1 HGNC TICAM1 148022 genome.wustl.edu 37 19 4816833 4816833 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 4816833 4816833 G A SNP TICAM1 ENST00000248244 human ensembl 70_37 -1 known silent c.1557 p.I519 0.960 pirsf_Tol-interleuk_rcpt_adapt_Ticam superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Ticam - no_errors TICAM1 HGNC TICAM1 148022 genome.wustl.edu 37 19 4817190 4817190 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 4817190 4817190 G C SNP TICAM1 ENST00000248244 human ensembl 70_37 -1 known silent c.1200 p.L400 0.969 superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Ticam superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Ticam - no_errors TICAM1 HGNC TICAM1 148022 genome.wustl.edu 37 19 4817906 4817906 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 4817906 4817906 G C SNP TICAM1 ENST00000248244 human ensembl 70_37 -1 known missense c.484 p.L162V 0.000 pirsf_Tol-interleuk_rcpt_adapt_Ticam superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Ticam - no_errors TICAM1 HGNC TICRR 90381 genome.wustl.edu 37 15 90167565 90167565 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 90167565 90167565 G A SNP TICRR ENST00000268138 human ensembl 70_37 +1 known missense c.4024 p.E1342K 0.004 NULL NULL - no_errors TICRR HGNC TIGD7 91151 genome.wustl.edu 37 16 3349537 3349537 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 3349537 3349537 C T SNP TIGD7 ENST00000268674 human ensembl 70_37 -1 known missense c.1078 p.E360K 1.000 pfam_DDE_SF_endonuclease_CENPB-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD7 HGNC TKT 7086 genome.wustl.edu 37 3 53262157 53262157 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 53262157 53262157 C G SNP TKT ENST00000423525 human ensembl 70_37 -1 known silent c.1488 p.L496 1.000 pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKT HGNC TLL2 7093 genome.wustl.edu 37 10 98182458 98182458 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 98182458 98182458 C T SNP TLL2 ENST00000357947 human ensembl 70_37 -1 known missense c.665 p.G222E 1.000 pfam_Peptidase_M12A,smart_Peptidase_Metallo,pirsf_BMP_1/tolloid-like pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL2 HGNC TLR8 51311 genome.wustl.edu 37 X 12937373 12937373 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 12937373 12937373 G C SNP TLR8 ENST00000218032 human ensembl 70_37 +1 known missense c.214 p.D72H 0.002 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp 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 TLR8 HGNC TMC2 117532 genome.wustl.edu 37 20 2560636 2560636 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 2560636 2560636 C T SNP TMC2 ENST00000358864 human ensembl 70_37 +1 known silent c.768 p.L256 0.998 NULL pfam_TMC - no_errors TMC2 HGNC TMC3 342125 genome.wustl.edu 37 15 81665068 81665068 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 81665068 81665068 C T SNP TMC3 ENST00000359440 human ensembl 70_37 -1 known missense c.100 p.D34N 0.989 NULL pfam_TMC - no_errors TMC3 HGNC TMC4 147798 genome.wustl.edu 37 19 54666432 54666432 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 54666432 54666432 G A SNP TMC4 ENST00000301187 human ensembl 70_37 -1 known silent c.1476 p.V492 0.001 pfam_TMC pfam_TMC - no_errors TMC4 HGNC TMCO1 54499 genome.wustl.edu 37 1 165697359 165697359 + Splice_Site SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 165697359 165697359 C T SNP TMCO1 ENST00000367881 human ensembl 70_37 -1 known splice_site c.622-1 e7-1 1.000 - - - no_errors TMCO1 HGNC TMCO1 54499 genome.wustl.edu 37 1 165728791 165728791 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 165728791 165728791 G A SNP TMCO1 ENST00000367881 human ensembl 70_37 -1 known missense c.332 p.S111L 1.000 pfam_DUF106_TM pfam_DUF106_TM - no_errors TMCO1 HGNC TMCO5B 100652857 genome.wustl.edu 37 15 33537611 33537611 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 33537611 33537611 C T SNP TMCO5B ENST00000530871 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors TMCO5B HGNC TMEM107 84314 genome.wustl.edu 37 17 8077884 8077884 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 8077884 8077884 C G SNP TMEM107 ENST00000316425 human ensembl 70_37 -1 known missense c.325 p.E109Q 1.000 NULL NULL - no_errors TMEM107 HGNC TMEM109 79073 genome.wustl.edu 37 11 60690641 60690641 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 60690641 60690641 G A SNP TMEM109 ENST00000540280 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors TMEM109 HGNC TMEM109 79073 genome.wustl.edu 37 11 60690680 60690680 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 60690680 60690680 G A SNP TMEM109 ENST00000540280 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors TMEM109 HGNC TMEM132C 92293 genome.wustl.edu 37 12 128900152 128900152 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 128900152 128900152 C T SNP TMEM132C ENST00000435159 human ensembl 70_37 +1 known missense c.961 p.L321F 0.583 NULL NULL - no_errors TMEM132C HGNC TMEM132E 124842 genome.wustl.edu 37 17 32953295 32953295 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 32953295 32953295 C T SNP TMEM132E ENST00000321639 human ensembl 70_37 +1 known silent c.217 p.L73 1.000 NULL NULL - no_errors TMEM132E HGNC TMEM185B 79134 genome.wustl.edu 37 2 120980298 120980298 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 120980298 120980298 C T SNP TMEM185B ENST00000426077 human ensembl 70_37 -1 known silent c.255 p.L85 1.000 pfam_TM_Fragile-X-F-assoc pfam_TM_Fragile-X-F-assoc - no_errors TMEM185B HGNC TMEM38B 55151 genome.wustl.edu 37 9 108510422 108510422 + Nonsense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 108510422 108510422 C G SNP TMEM38B ENST00000374692 human ensembl 70_37 +1 known nonsense c.611 p.S204* 0.998 pfam_TRIC_channel pfam_TRIC_channel - no_errors TMEM38B HGNC TMEM8A 58986 genome.wustl.edu 37 16 424225 424225 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 424225 424225 G A SNP TMEM8A ENST00000431232 human ensembl 70_37 -1 known missense c.1751 p.S584F 1.000 pfam_DUF3522 pfam_DUF3522,pfscan_EG-like_dom - no_errors TMEM8A HGNC TMF1 7110 genome.wustl.edu 37 3 69075149 69075149 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 69075149 69075149 G C SNP TMF1 ENST00000543976 human ensembl 70_37 -1 known missense c.2866 p.Q956E 1.000 NULL pfam_TMF_TATA-bd,pfam_TMF_DNA-bd - no_errors TMF1 HGNC TMIGD1 388364 genome.wustl.edu 37 17 28656379 28656379 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 28656379 28656379 G T SNP TMIGD1 ENST00000328886 human ensembl 70_37 -1 known missense c.251 p.S84Y 1.000 smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TMIGD1 HGNC TMPRSS11F 389208 genome.wustl.edu 37 4 68925067 68925067 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 68925067 68925067 C T SNP TMPRSS11F ENST00000356291 human ensembl 70_37 -1 known missense c.1135 p.E379K 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_SEA,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS11F HGNC TMPRSS3 64699 genome.wustl.edu 37 21 43792022 43792022 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 43792022 43792022 G C SNP TMPRSS3 ENST00000474596 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors TMPRSS3 HGNC TMPRSS6 164656 genome.wustl.edu 37 22 37480241 37480241 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 37480241 37480241 G C SNP TMPRSS6 ENST00000442782 human ensembl 70_37 -1 known silent c.1317 p.V439 0.000 NULL pfam_SEA,superfamily_CUB,pfscan_CUB - no_errors TMPRSS6 HGNC TMTC3 160418 genome.wustl.edu 37 12 88542183 88542183 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 88542183 88542183 G C SNP TMTC3 ENST00000266712 human ensembl 70_37 +1 known missense c.91 p.D31H 1.000 NULL pfam_TPR_2,pfam_TPR-1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC3 HGNC TMTC4 84899 genome.wustl.edu 37 13 101287313 101287313 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 101287313 101287313 C G SNP TMTC4 ENST00000342624 human ensembl 70_37 -1 known missense c.1339 p.G447R 0.888 NULL pfam_TPR-1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC4 HGNC TNC 3371 genome.wustl.edu 37 9 117817774 117817774 + RNA SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 117817774 117817774 C A SNP TNC ENST00000481475 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors TNC HGNC TNC 3371 genome.wustl.edu 37 9 117848146 117848146 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 117848146 117848146 C A SNP TNC ENST00000350763 human ensembl 70_37 -1 known nonsense c.1864 p.E622* 0.011 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 TNC 3371 genome.wustl.edu 37 9 117848473 117848473 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 117848473 117848473 C A SNP TNC ENST00000350763 human ensembl 70_37 -1 known missense c.1537 p.D513Y 0.961 pfam_EGF_extracell,smart_EG-like_dom 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 TNFRSF1B 7133 genome.wustl.edu 37 1 12254073 12254073 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 12254073 12254073 C T SNP TNFRSF1B ENST00000376259 human ensembl 70_37 +1 known silent c.849 p.I283 0.069 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1B - no_errors TNFRSF1B HGNC TNKS 8658 genome.wustl.edu 37 8 9605588 9605588 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 9605588 9605588 G T SNP TNKS ENST00000310430 human ensembl 70_37 +1 known missense c.2698 p.D900Y 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS HGNC TNKS1BP1 85456 genome.wustl.edu 37 11 57080263 57080263 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 57080263 57080263 G A SNP TNKS1BP1 ENST00000358252 human ensembl 70_37 -1 known silent c.1899 p.L633 0.849 NULL NULL - no_errors TNKS1BP1 HGNC TNRC6A 27327 genome.wustl.edu 37 16 24800641 24800641 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 24800641 24800641 G A SNP TNRC6A ENST00000395799 human ensembl 70_37 +1 known silent c.678 p.K226 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC TOB2 10766 genome.wustl.edu 37 22 41832533 41832533 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 41832533 41832533 C G SNP TOB2 ENST00000327492 human ensembl 70_37 -1 known missense c.817 p.D273H 0.999 NULL pfam_Anti_prolifrtn,pfam_Ataxin-2_C,smart_Anti_prolifrtn,prints_Anti_prolifrtn - no_errors TOB2 HGNC TOB2 10766 genome.wustl.edu 37 22 41833211 41833211 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 41833211 41833211 C T SNP TOB2 ENST00000327492 human ensembl 70_37 -1 known missense c.139 p.E47K 0.962 pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn pfam_Anti_prolifrtn,pfam_Ataxin-2_C,smart_Anti_prolifrtn,prints_Anti_prolifrtn - no_errors TOB2 HGNC TOP2A 7153 genome.wustl.edu 37 17 38562849 38562849 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 38562849 38562849 G C SNP TOP2A ENST00000423485 human ensembl 70_37 -1 known silent c.1830 p.V610 1.000 superfamily_Topo_IIA_cen,smart_Topo_IIA,prints_Topo_IIA pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_ATPase-like_ATP-bd,superfamily_Topo_IIA_cen,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_CBFA/NFYB_topo - no_errors TOP2A HGNC TOX3 27324 genome.wustl.edu 37 16 52498040 52498040 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 52498040 52498040 G A SNP TOX3 ENST00000219746 human ensembl 70_37 -1 known missense c.214 p.P72S 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TOX3 HGNC TP53 7157 genome.wustl.edu 37 17 7573977 7573977 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 7573977 7573977 G C SNP TP53 ENST00000269305 human ensembl 70_37 -1 known silent c.1050 p.L350 0.924 pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC TP53I3 9540 genome.wustl.edu 37 2 24300579 24300579 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 24300579 24300579 G C SNP TP53I3 ENST00000238721 human ensembl 70_37 -1 known missense c.869 p.S290C 0.988 smart_PKS_ER,tigrfam_Quinone_OxRdtase_PIG3 pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER,tigrfam_Quinone_OxRdtase_PIG3 - no_errors TP53I3 HGNC TP53RK 112858 genome.wustl.edu 37 20 45315590 45315590 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 45315590 45315590 G C SNP TP53RK ENST00000372114 human ensembl 70_37 -1 known missense c.564 p.F188L 0.997 pfam_LipoPS_kinase,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Kae1-assoc_kinase_Bud32 pfam_LipoPS_kinase,pfam_Prot_kinase_cat_dom,pfam_RIO-like_kinase,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Kae1-assoc_kinase_Bud32 - no_errors TP53RK HGNC TP73 7161 genome.wustl.edu 37 1 3598993 3598993 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 3598993 3598993 C T SNP TP73 ENST00000378295 human ensembl 70_37 +1 known silent c.64 p.L22 0.986 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP73 HGNC TPO 7173 genome.wustl.edu 37 2 1457477 1457477 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 1457477 1457477 G T SNP TPO ENST00000329066 human ensembl 70_37 +1 known missense c.494 p.R165I 0.006 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC TPP2 7174 genome.wustl.edu 37 13 103268843 103268843 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 103268843 103268843 C G SNP TPP2 ENST00000376065 human ensembl 70_37 +1 known missense c.488 p.S163C 0.998 pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel - no_errors TPP2 HGNC TPRA1 131601 genome.wustl.edu 37 3 127294479 127294479 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 127294479 127294479 C T SNP TPRA1 ENST00000465915 human ensembl 70_37 -1 known rna NULL NULL 0.330 - - - no_errors TPRA1 HGNC TPRN 286262 genome.wustl.edu 37 9 140086993 140086993 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 140086993 140086993 C G SNP TPRN ENST00000409012 human ensembl 70_37 -1 known missense c.1876 p.E626Q 0.300 NULL NULL - no_errors TPRN HGNC TPTE2P6 374491 genome.wustl.edu 37 13 25171562 25171562 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 25171562 25171562 C T SNP TPTE2P6 ENST00000440905 human ensembl 70_37 +1 known rna NULL NULL 0.234 - - - no_errors TPTE2P6 HGNC TRABD2B 388630 genome.wustl.edu 37 1 48231630 48231630 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 48231630 48231630 C T SNP TRABD2B ENST00000371865 human ensembl 70_37 -1 known missense c.1498 p.A500T 0.000 NULL superfamily_SuperAg_toxin_C_Staph/Strep - no_errors TRABD2B HGNC TRANK1 9881 genome.wustl.edu 37 3 36893237 36893237 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 36893237 36893237 G C SNP TRANK1 ENST00000429976 human ensembl 70_37 -1 known silent c.4728 p.L1576 1.000 NULL pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC TRAPPC12 51112 genome.wustl.edu 37 2 3481508 3481508 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 3481508 3481508 G A SNP TRAPPC12 ENST00000324266 human ensembl 70_37 +1 known missense c.1819 p.E607K 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TRAPPC12 HGNC TRERF1 55809 genome.wustl.edu 37 6 42224486 42224486 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 42224486 42224486 C T SNP TRERF1 ENST00000541110 human ensembl 70_37 -1 known missense c.2620 p.E874K 1.000 pfscan_ELM2_dom pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC TRIM22 10346 genome.wustl.edu 37 11 5730382 5730382 + Nonsense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 5730382 5730382 C G SNP TRIM22 ENST00000379965 human ensembl 70_37 +1 known nonsense c.1001 p.S334* 0.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM22 HGNC TRIM35 23087 genome.wustl.edu 37 8 27151768 27151768 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 27151768 27151768 G A SNP TRIM35 ENST00000305364 human ensembl 70_37 -1 known silent c.591 p.F197 0.997 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM35 HGNC TRIM35 23087 genome.wustl.edu 37 8 27168491 27168491 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 27168491 27168491 C T SNP TRIM35 ENST00000305364 human ensembl 70_37 -1 known missense c.262 p.E88K 0.570 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM35 HGNC TRIM54 57159 genome.wustl.edu 37 2 27505756 27505756 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 27505756 27505756 G A SNP TRIM54 ENST00000296098 human ensembl 70_37 +1 known missense c.157 p.D53N 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_Chorismate_mutase_type_II,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM54 HGNC TRIM59 286827 genome.wustl.edu 37 3 160155867 160155867 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 160155867 160155867 G C SNP TRIM59 ENST00000309784 human ensembl 70_37 -1 known missense c.1105 p.L369V 0.003 NULL pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM59 HGNC TRIM67 440730 genome.wustl.edu 37 1 231333131 231333131 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 231333131 231333131 G C SNP TRIM67 ENST00000366652 human ensembl 70_37 +1 known missense c.1059 p.Q353H 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 TRIP11 9321 genome.wustl.edu 37 14 92471742 92471742 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 92471742 92471742 C G SNP TRIP11 ENST00000267622 human ensembl 70_37 -1 known missense c.2578 p.E860Q 1.000 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC TRIP11 9321 genome.wustl.edu 37 14 92474016 92474016 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 92474016 92474016 C G SNP TRIP11 ENST00000267622 human ensembl 70_37 -1 known missense c.1495 p.E499Q 1.000 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC TRIP11 9321 genome.wustl.edu 37 14 92505916 92505916 + Silent SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 92505916 92505916 C A SNP TRIP11 ENST00000267622 human ensembl 70_37 -1 known silent c.114 p.L38 0.167 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC TRMT44 152992 genome.wustl.edu 37 4 8467278 8467278 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 8467278 8467278 C A SNP TRMT44 ENST00000389737 human ensembl 70_37 +1 known nonsense c.1484 p.S495* 1.000 NULL pfam_tRNA_uracil_MeTrfase - no_errors TRMT44 HGNC TRPC1 7220 genome.wustl.edu 37 3 142521181 142521181 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 142521181 142521181 C G SNP TRPC1 ENST00000476941 human ensembl 70_37 +1 known missense c.1752 p.F584L 1.000 pfam_Ion_trans_dom,prints_TRPC1_channel,tigrfam_TRP_channel pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC1 HGNC TRPC3 7222 genome.wustl.edu 37 4 122853864 122853864 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 122853864 122853864 G A SNP TRPC3 ENST00000379645 human ensembl 70_37 -1 known silent c.549 p.I183 1.000 superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC TRPM4 54795 genome.wustl.edu 37 19 49713601 49713601 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 49713601 49713601 C G SNP TRPM4 ENST00000252826 human ensembl 70_37 +1 known silent c.3267 p.L1089 0.967 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC TRPM6 140803 genome.wustl.edu 37 9 77376684 77376684 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 77376684 77376684 G A SNP TRPM6 ENST00000451710 human ensembl 70_37 -1 known silent c.4713 p.V1571 0.961 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC TSC1 7248 genome.wustl.edu 37 9 135781123 135781123 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 135781123 135781123 C A SNP TSC1 ENST00000298552 human ensembl 70_37 -1 known missense c.1842 p.K614N 1.000 pfam_Hamartin pfam_Hamartin,superfamily_ARM-type_fold - no_errors TSC1 HGNC TSKS 60385 genome.wustl.edu 37 19 50265447 50265447 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 50265447 50265447 C G SNP TSKS ENST00000246801 human ensembl 70_37 -1 known silent c.213 p.L71 1.000 NULL NULL - no_errors TSKS HGNC TSNARE1 203062 genome.wustl.edu 37 8 143361248 143361248 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 143361248 143361248 C T SNP TSNARE1 ENST00000521825 human ensembl 70_37 -1 putative rna NULL NULL 0.078 - - - no_errors TSNARE1 HGNC TSPEAR 54084 genome.wustl.edu 37 21 45924684 45924684 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 45924684 45924684 G A SNP TSPEAR ENST00000323084 human ensembl 70_37 -1 known missense c.1835 p.S612L 0.913 pfam_EPTP,pfscan_EAR pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC TTC25 83538 genome.wustl.edu 37 17 40092735 40092735 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 40092735 40092735 C T SNP TTC25 ENST00000377540 human ensembl 70_37 +1 known rna NULL NULL 0.997 - - - no_errors TTC25 HGNC TTC39A 22996 genome.wustl.edu 37 1 51774962 51774962 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 51774962 51774962 G C SNP TTC39A ENST00000447632 human ensembl 70_37 -1 known missense c.567 p.I189M 1.000 pfam_OMP_IML2_mit/TPR_39 pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39A HGNC TTC40 54777 genome.wustl.edu 37 10 134743130 134743130 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 134743130 134743130 C A SNP TTC40 ENST00000368585 human ensembl 70_37 -1 known nonsense c.1045 p.E349* 0.000 NULL NULL - no_errors TTC40 HGNC TTF2 8458 genome.wustl.edu 37 1 117634490 117634490 + Nonsense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 117634490 117634490 C G SNP TTF2 ENST00000369466 human ensembl 70_37 +1 known nonsense c.2723 p.S908* 0.009 pfam_SNF2_N 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 TTI1 9675 genome.wustl.edu 37 20 36634660 36634660 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 36634660 36634660 C T SNP TTI1 ENST00000373447 human ensembl 70_37 -1 known silent c.2442 p.L814 1.000 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC TTLL12 23170 genome.wustl.edu 37 22 43575746 43575746 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 43575746 43575746 C T SNP TTLL12 ENST00000216129 human ensembl 70_37 -1 known missense c.719 p.R240Q 1.000 NULL pfam_Tub_tyr_ligase - no_errors TTLL12 HGNC TTLL13 440307 genome.wustl.edu 37 15 90799019 90799019 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 90799019 90799019 C G SNP TTLL13 ENST00000438251 human ensembl 70_37 +1 known missense c.450 p.I150M 1.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL13 HGNC TTN 7273 genome.wustl.edu 37 2 179416576 179416576 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 179416576 179416576 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.83347 p.D27783H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179424573 179424573 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 179424573 179424573 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.78582 p.K26194 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179424576 179424576 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 179424576 179424576 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.78579 p.R26193 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179425118 179425118 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 179425118 179425118 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.78037 p.E26013Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179581862 179581862 + Silent SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 179581862 179581862 G T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.21867 p.I7289 0.020 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179597987 179597987 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 179597987 179597987 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.12301 p.E4101K 0.991 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179598510 179598510 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 179598510 179598510 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.11874 p.M3958I 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179606109 179606109 + Nonsense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 179606109 179606109 G A SNP TTN ENST00000342175 human ensembl 70_37 -1 known nonsense c.11338 p.Q3780* 0.123 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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 TUBA3C 7278 genome.wustl.edu 37 13 19753560 19753560 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 13 19753560 19753560 G C SNP TUBA3C ENST00000400113 human ensembl 70_37 -1 known missense c.147 p.F49L 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3C HGNC TUBA3FP 113691 genome.wustl.edu 37 22 21368163 21368163 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 21368163 21368163 C G SNP TUBA3FP ENST00000292748 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TUBA3FP HGNC TUBB2A 7280 genome.wustl.edu 37 6 3154970 3154970 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 3154970 3154970 G A SNP TUBB2A ENST00000333628 human ensembl 70_37 -1 known silent c.465 p.I155 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB2A HGNC TUBB4A 10382 genome.wustl.edu 37 19 6495889 6495889 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 6495889 6495889 G C SNP TUBB4A ENST00000264071 human ensembl 70_37 -1 known silent c.621 p.L207 0.971 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin - no_errors TUBB4A HGNC TUBGCP6 85378 genome.wustl.edu 37 22 50656698 50656698 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 50656698 50656698 G C SNP TUBGCP6 ENST00000248846 human ensembl 70_37 -1 known missense c.5088 p.F1696L 1.000 pfam_Spc97_Spc98 pfam_Spc97_Spc98 - no_errors TUBGCP6 HGNC TUFT1 7286 genome.wustl.edu 37 1 151536388 151536388 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 151536388 151536388 G C SNP TUFT1 ENST00000538902 human ensembl 70_37 +1 known missense c.303 p.L101F 1.000 NULL superfamily_Prefoldin - no_errors TUFT1 HGNC TXLNA 200081 genome.wustl.edu 37 1 32646028 32646028 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 32646028 32646028 G A SNP TXLNA ENST00000373609 human ensembl 70_37 +1 known missense c.82 p.E28K 0.956 NULL pfam_Taxilin_fam - no_errors TXLNA HGNC TXNDC2 84203 genome.wustl.edu 37 18 9886887 9886887 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 9886887 9886887 C T SNP TXNDC2 ENST00000306084 human ensembl 70_37 +1 known silent c.411 p.S137 0.001 pfam_Glutenin pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold - no_errors TXNDC2 HGNC U2AF1L4 199746 genome.wustl.edu 37 19 36235398 36235398 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 36235398 36235398 G T SNP U2AF1L4 ENST00000412391 human ensembl 70_37 -1 known missense c.243 p.F81L 1.000 smart_RRM_dom_euk,pfscan_RRM_dom,prints_U2_small pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,pfscan_RRM_dom,prints_U2_small - no_errors U2AF1L4 HGNC UBAP2 55833 genome.wustl.edu 37 9 33996307 33996307 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 33996307 33996307 G C SNP UBAP2 ENST00000360802 human ensembl 70_37 -1 known missense c.202 p.Q68E 1.000 pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk pfam_DUF3697_Uba2,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2 HGNC UBE2Q1 55585 genome.wustl.edu 37 1 154523423 154523423 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 154523423 154523423 C T SNP UBE2Q1 ENST00000292211 human ensembl 70_37 -1 known missense c.1228 p.E410K 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2Q1 HGNC UBE2Q1 55585 genome.wustl.edu 37 1 154525569 154525569 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 154525569 154525569 C T SNP UBE2Q1 ENST00000292211 human ensembl 70_37 -1 known missense c.668 p.G223E 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2Q1 HGNC UBE3C 9690 genome.wustl.edu 37 7 157041173 157041173 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 157041173 157041173 G A SNP UBE3C ENST00000348165 human ensembl 70_37 +1 known missense c.2593 p.E865K 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC UBE3C 9690 genome.wustl.edu 37 7 157041184 157041184 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 157041184 157041184 G C SNP UBE3C ENST00000348165 human ensembl 70_37 +1 known missense c.2604 p.K868N 0.033 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC UBE3D 90025 genome.wustl.edu 37 6 83767592 83767592 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 83767592 83767592 C G SNP UBE3D ENST00000369747 human ensembl 70_37 -1 known missense c.227 p.G76A 0.975 pfam_UBQ-conj_enz_E2-bd_prot pfam_UBQ-conj_enz_E2-bd_prot - no_errors UBE3D HGNC UBE4B 10277 genome.wustl.edu 37 1 10195164 10195164 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 10195164 10195164 G C SNP UBE4B ENST00000343090 human ensembl 70_37 +1 known missense c.2144 p.R715T 0.952 pfam_Ub_conjug_fac_E4_core pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC UBR1 197131 genome.wustl.edu 37 15 43329982 43329982 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 43329982 43329982 G C SNP UBR1 ENST00000290650 human ensembl 70_37 -1 known missense c.2011 p.L671V 0.998 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR1 HGNC UBR3 130507 genome.wustl.edu 37 2 170783844 170783844 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 170783844 170783844 G C SNP UBR3 ENST00000272793 human ensembl 70_37 +1 known missense c.2353 p.E785Q 1.000 NULL pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR3 HGNC UBR5 51366 genome.wustl.edu 37 8 103358595 103358595 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 103358595 103358595 C T SNP UBR5 ENST00000520539 human ensembl 70_37 -1 known missense c.605 p.R202K 1.000 pfam_E3_UbLigase_EDD_UBA pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC UGCG 7357 genome.wustl.edu 37 9 114688771 114688771 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 114688771 114688771 G C SNP UGCG ENST00000374279 human ensembl 70_37 +1 known missense c.553 p.E185Q 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2 - no_errors UGCG HGNC UGT2B28 54490 genome.wustl.edu 37 4 70160416 70160416 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 70160416 70160416 G C SNP UGT2B28 ENST00000335568 human ensembl 70_37 +1 known silent c.1479 p.V493 0.998 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B28 HGNC UHRF1BP1L 23074 genome.wustl.edu 37 12 100441743 100441743 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 100441743 100441743 G C SNP UHRF1BP1L ENST00000279907 human ensembl 70_37 -1 known missense c.3950 p.S1317C 1.000 NULL NULL - no_errors UHRF1BP1L HGNC UHRF1BP1L 23074 genome.wustl.edu 37 12 100482793 100482793 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 100482793 100482793 C T SNP UHRF1BP1L ENST00000279907 human ensembl 70_37 -1 known silent c.921 p.V307 0.989 NULL NULL - no_errors UHRF1BP1L HGNC UNK 85451 genome.wustl.edu 37 17 73820430 73820430 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 73820430 73820430 G C SNP UNK ENST00000293218 human ensembl 70_37 +1 known missense c.2593 p.E865Q 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNK HGNC UQCRC1 7384 genome.wustl.edu 37 3 48643248 48643248 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 48643248 48643248 C T SNP UQCRC1 ENST00000415995 human ensembl 70_37 -1 known missense c.116 p.R39K 1.000 NULL NULL - no_errors UQCRC1 HGNC UQCRC2 7385 genome.wustl.edu 37 16 21974083 21974083 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 21974083 21974083 G A SNP UQCRC2 ENST00000268379 human ensembl 70_37 +1 known missense c.391 p.D131N 1.000 pfam_Pept_M16_N,superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors UQCRC2 HGNC URB1 9875 genome.wustl.edu 37 21 33750820 33750820 + Nonsense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 21 33750820 33750820 G A SNP URB1 ENST00000382751 human ensembl 70_37 -1 known nonsense c.598 p.Q200* 1.000 pfam_Npa1_N pfam_Npa1_N,superfamily_ARM-type_fold - no_errors URB1 HGNC USP19 10869 genome.wustl.edu 37 3 49147892 49147892 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 49147892 49147892 G C SNP USP19 ENST00000398888 human ensembl 70_37 -1 known missense c.3535 p.Q1179E 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_DUF1872,pfam_Peptidase_C19,pfam_Znf_MYND,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_Znf_MYND,pfscan_Peptidase_C19 - no_errors USP19 HGNC USP19 10869 genome.wustl.edu 37 3 49151464 49151464 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 49151464 49151464 C G SNP USP19 ENST00000398888 human ensembl 70_37 -1 known missense c.2157 p.Q719H 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_DUF1872,pfam_Peptidase_C19,pfam_Znf_MYND,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_Znf_MYND,pfscan_Peptidase_C19 - no_errors USP19 HGNC USP32P1 162632 genome.wustl.edu 37 17 16706959 16706959 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 16706959 16706959 C G SNP USP32P1 ENST00000341745 human ensembl 70_37 +1 known rna NULL NULL 0.755 - - - no_errors USP32P1 HGNC USP35 57558 genome.wustl.edu 37 11 77911809 77911809 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 77911809 77911809 C T SNP USP35 ENST00000529308 human ensembl 70_37 +1 known silent c.1152 p.F384 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP35 HGNC USP43 124739 genome.wustl.edu 37 17 9613288 9613288 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 9613288 9613288 C G SNP USP43 ENST00000285199 human ensembl 70_37 +1 known missense c.2027 p.S676C 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP43 HGNC USP51 158880 genome.wustl.edu 37 X 55514414 55514414 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 55514414 55514414 G A SNP USP51 ENST00000500968 human ensembl 70_37 -1 known missense c.959 p.S320F 0.732 NULL pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP51 HGNC USP54 159195 genome.wustl.edu 37 10 75277284 75277284 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 75277284 75277284 G C SNP USP54 ENST00000339859 human ensembl 70_37 -1 known missense c.2900 p.S967C 0.981 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP54 HGNC USP8 9101 genome.wustl.edu 37 15 50751336 50751336 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 50751336 50751336 G C SNP USP8 ENST00000307179 human ensembl 70_37 +1 known missense c.475 p.D159H 0.993 NULL pfam_Peptidase_C19,pfam_DUF1873,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_Rsp5_WWP,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19 - no_errors USP8 HGNC UTP20 27340 genome.wustl.edu 37 12 101684594 101684594 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 101684594 101684594 C G SNP UTP20 ENST00000261637 human ensembl 70_37 +1 known silent c.819 p.L273 0.356 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC UTRN 7402 genome.wustl.edu 37 6 144783982 144783982 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 144783982 144783982 C T SNP UTRN ENST00000367545 human ensembl 70_37 +1 known missense c.3046 p.L1016F 0.095 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,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 UTRN HGNC VILL 50853 genome.wustl.edu 37 3 38047732 38047732 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 38047732 38047732 G A SNP VILL ENST00000283713 human ensembl 70_37 +1 known missense c.2194 p.E732K 0.953 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin - no_errors VILL HGNC VILL 50853 genome.wustl.edu 37 3 38047734 38047734 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 38047734 38047734 G A SNP VILL ENST00000283713 human ensembl 70_37 +1 known silent c.2196 p.E732 0.934 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin - no_errors VILL HGNC VIPAS39 63894 genome.wustl.edu 37 14 77893965 77893965 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 77893965 77893965 C T SNP VIPAS39 ENST00000343765 human ensembl 70_37 -1 known silent c.1476 p.K492 1.000 NULL pfam_Golgin_subfamily_A_member_5 - no_errors VIPAS39 HGNC VLDLR 7436 genome.wustl.edu 37 9 2643666 2643666 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 2643666 2643666 G C SNP VLDLR ENST00000382100 human ensembl 70_37 +1 known missense c.859 p.D287H 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors VLDLR HGNC VMP1 81671 genome.wustl.edu 37 17 57851201 57851201 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 57851201 57851201 G C SNP VMP1 ENST00000262291 human ensembl 70_37 +1 known missense c.669 p.E223D 0.794 NULL NULL - no_errors VMP1 HGNC VPS13A 23230 genome.wustl.edu 37 9 79825580 79825580 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 79825580 79825580 C G SNP VPS13A ENST00000360280 human ensembl 70_37 +1 known missense c.544 p.L182V 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC VPS13B 157680 genome.wustl.edu 37 8 100108604 100108604 + Nonsense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 100108604 100108604 C G SNP VPS13B ENST00000358544 human ensembl 70_37 +1 known nonsense c.356 p.S119* 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC VPS13B 157680 genome.wustl.edu 37 8 100711817 100711817 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 100711817 100711817 G C SNP VPS13B ENST00000358544 human ensembl 70_37 +1 known missense c.6186 p.Q2062H 0.996 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC VPS13C 54832 genome.wustl.edu 37 15 62253889 62253889 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 62253889 62253889 G C SNP VPS13C ENST00000261517 human ensembl 70_37 -1 known missense c.3807 p.I1269M 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13C HGNC VPS13D 55187 genome.wustl.edu 37 1 12304470 12304470 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 12304470 12304470 C A SNP VPS13D ENST00000358136 human ensembl 70_37 +1 known missense c.343 p.Q115K 0.936 NULL pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC VPS13D 55187 genome.wustl.edu 37 1 12337696 12337696 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 12337696 12337696 G A SNP VPS13D ENST00000358136 human ensembl 70_37 +1 known missense c.4051 p.E1351K 1.000 NULL pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC VPS13D 55187 genome.wustl.edu 37 1 12414078 12414078 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 12414078 12414078 C A SNP VPS13D ENST00000358136 human ensembl 70_37 +1 known nonsense c.9479 p.S3160* 1.000 NULL pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC WBP2NL 164684 genome.wustl.edu 37 22 42394815 42394815 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 22 42394815 42394815 G C SNP WBP2NL ENST00000461730 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors WBP2NL HGNC WBSCR17 64409 genome.wustl.edu 37 7 71130461 71130461 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 71130461 71130461 G C SNP WBSCR17 ENST00000333538 human ensembl 70_37 +1 known missense c.1146 p.K382N 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC WDFY3 23001 genome.wustl.edu 37 4 85664936 85664936 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 4 85664936 85664936 G C SNP WDFY3 ENST00000295888 human ensembl 70_37 -1 known missense c.5990 p.S1997C 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC WDR27 253769 genome.wustl.edu 37 6 170033055 170033055 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 170033055 170033055 G C SNP WDR27 ENST00000448612 human ensembl 70_37 -1 known missense c.2211 p.I737M 0.832 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR27 HGNC WDR37 22884 genome.wustl.edu 37 10 1139409 1139409 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 1139409 1139409 C T SNP WDR37 ENST00000263150 human ensembl 70_37 +1 known missense c.622 p.H208Y 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom 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 WDR37 HGNC WDR43 23160 genome.wustl.edu 37 2 29152532 29152532 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 29152532 29152532 C T SNP WDR43 ENST00000407426 human ensembl 70_37 +1 known missense c.1393 p.L465F 1.000 NULL pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR43 HGNC WDR43 23160 genome.wustl.edu 37 2 29165188 29165188 + Nonsense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 29165188 29165188 C A SNP WDR43 ENST00000407426 human ensembl 70_37 +1 known nonsense c.1745 p.S582* 1.000 superfamily_ARM-type_fold pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR43 HGNC WDR59 79726 genome.wustl.edu 37 16 74919569 74919569 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 74919569 74919569 C T SNP WDR59 ENST00000262144 human ensembl 70_37 -1 known missense c.2671 p.D891N 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_UBQ-conjugating_enzyme/RWD,smart_WD40_repeat,smart_RWD-domain,pfscan_RWD-domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR59 HGNC WDR6 11180 genome.wustl.edu 37 3 49049208 49049208 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 49049208 49049208 G C SNP WDR6 ENST00000395474 human ensembl 70_37 +1 known missense c.331 p.E111Q 0.759 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC WDR72 256764 genome.wustl.edu 37 15 53994468 53994468 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 53994468 53994468 C A SNP WDR72 ENST00000360509 human ensembl 70_37 -1 known missense c.1432 p.D478Y 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC WDR90 197335 genome.wustl.edu 37 16 705701 705701 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 705701 705701 C T SNP WDR90 ENST00000549091 human ensembl 70_37 +1 novel missense c.1847 p.S616L 0.098 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC WDR96 80217 genome.wustl.edu 37 10 105990417 105990417 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 105990417 105990417 C G SNP WDR96 ENST00000357060 human ensembl 70_37 -1 known missense c.250 p.D84H 1.000 superfamily_Quino_amine_DH_bsu superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu - no_errors WDR96 HGNC WHSC1L1 54904 genome.wustl.edu 37 8 38205256 38205256 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 38205256 38205256 G A SNP WHSC1L1 ENST00000317025 human ensembl 70_37 -1 known missense c.434 p.P145L 1.000 NULL pfam_PWWP,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors WHSC1L1 HGNC WNK4 65266 genome.wustl.edu 37 17 40939478 40939478 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 40939478 40939478 C T SNP WNK4 ENST00000246914 human ensembl 70_37 +1 known silent c.1659 p.V553 0.906 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK4 HGNC WRNIP1 56897 genome.wustl.edu 37 6 2785498 2785498 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 2785498 2785498 C T SNP WRNIP1 ENST00000380773 human ensembl 70_37 +1 known silent c.1980 p.F660 0.780 pfam_MgsA_C pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,smart_Znf_Rad18_put,smart_AAA+_ATPase - no_errors WRNIP1 HGNC WSCD2 9671 genome.wustl.edu 37 12 108603970 108603970 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 108603970 108603970 G C SNP WSCD2 ENST00000261400 human ensembl 70_37 +1 known silent c.570 p.V190 0.998 pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD2 HGNC XIRP1 165904 genome.wustl.edu 37 3 39229161 39229161 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 39229161 39229161 C T SNP XIRP1 ENST00000340369 human ensembl 70_37 -1 known silent c.1776 p.Q592 0.998 pfam_Actin-binding_Xin_repeat pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC XIRP2 129446 genome.wustl.edu 37 2 168101840 168101840 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 168101840 168101840 G C SNP XIRP2 ENST00000295237 human ensembl 70_37 +1 known missense c.3938 p.R1313T 1.000 pfam_Actin-binding_Xin_repeat pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC XIST 7503 genome.wustl.edu 37 X 73063292 73063292 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 73063292 73063292 C T SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC XIST 7503 genome.wustl.edu 37 X 73064429 73064429 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 73064429 73064429 C T SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC XKR7 343702 genome.wustl.edu 37 20 30585132 30585132 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 30585132 30585132 C G SNP XKR7 ENST00000217299 human ensembl 70_37 +1 known missense c.1612 p.H538D 1.000 NULL pfam_Transport_prot_XK - no_errors XKR7 HGNC XRN1 54464 genome.wustl.edu 37 3 142078732 142078732 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 142078732 142078732 C T SNP XRN1 ENST00000264951 human ensembl 70_37 -1 known missense c.3436 p.E1146K 1.000 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC XRRA1 143570 genome.wustl.edu 37 11 74651915 74651915 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 74651915 74651915 G C SNP XRRA1 ENST00000340360 human ensembl 70_37 -1 known missense c.9 p.F3L 0.002 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC YIPF3 25844 genome.wustl.edu 37 6 43483773 43483773 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 43483773 43483773 C G SNP YIPF3 ENST00000372422 human ensembl 70_37 -1 known missense c.142 p.E48Q 1.000 NULL NULL - no_errors YIPF3 HGNC YJEFN3 374887 genome.wustl.edu 37 19 19638571 19638571 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 19638571 19638571 G A SNP YJEFN3 ENST00000553705 human ensembl 70_37 +1 known missense c.307 p.D103N 0.001 pfam_GRIM-19,superfamily_YjeF_N_dom pfam_GRIM-19,pfam_YjeF_N_dom,superfamily_YjeF_N_dom - no_errors YJEFN3 HGNC YLPM1 56252 genome.wustl.edu 37 14 75302082 75302082 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 75302082 75302082 G A SNP YLPM1 ENST00000325680 human ensembl 70_37 +1 known missense c.6409 p.E2137K 1.000 NULL superfamily_FH2_actin-bd - no_errors YLPM1 Uniprot_genename YLPM1 56252 genome.wustl.edu 37 14 75302098 75302098 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 14 75302098 75302098 G A SNP YLPM1 ENST00000325680 human ensembl 70_37 +1 known missense c.6425 p.R2142Q 1.000 NULL superfamily_FH2_actin-bd - no_errors YLPM1 Uniprot_genename YTHDF3 253943 genome.wustl.edu 37 8 64125042 64125042 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 64125042 64125042 C G SNP YTHDF3 ENST00000521674 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors YTHDF3 HGNC YY1AP1 55249 genome.wustl.edu 37 1 155644834 155644834 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 155644834 155644834 G C SNP YY1AP1 ENST00000368339 human ensembl 70_37 -1 known silent c.792 p.L264 0.868 NULL NULL - no_errors YY1AP1 HGNC YY1AP1 55249 genome.wustl.edu 37 1 155658092 155658092 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 155658092 155658092 C A SNP YY1AP1 ENST00000368339 human ensembl 70_37 -1 known missense c.164 p.R55L 1.000 NULL NULL - no_errors YY1AP1 HGNC ZACN 353174 genome.wustl.edu 37 17 74076558 74076558 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 17 74076558 74076558 G A SNP ZACN ENST00000425015 human ensembl 70_37 +1 known silent c.597 p.G199 0.000 NULL pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd - no_errors ZACN HGNC ZBTB38 253461 genome.wustl.edu 37 3 141162301 141162301 + Silent SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 141162301 141162301 C G SNP ZBTB38 ENST00000321464 human ensembl 70_37 +1 known silent c.1074 p.L358 0.783 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ZBTB45 84878 genome.wustl.edu 37 19 59025616 59025616 + Silent SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 59025616 59025616 G C SNP ZBTB45 ENST00000354590 human ensembl 70_37 -1 known silent c.1341 p.L447 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB45 HGNC ZBTB7C 201501 genome.wustl.edu 37 18 45567016 45567016 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 45567016 45567016 C T SNP ZBTB7C ENST00000332053 human ensembl 70_37 -1 known missense c.463 p.E155K 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7C HGNC ZC3H11A 9877 genome.wustl.edu 37 1 203770989 203770989 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 203770989 203770989 G A SNP ZC3H11A ENST00000461980 human ensembl 70_37 +1 known rna NULL NULL 0.982 - - - no_errors ZC3H11A HGNC ZC3H12C 85463 genome.wustl.edu 37 11 110036067 110036067 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 11 110036067 110036067 G C SNP ZC3H12C ENST00000278590 human ensembl 70_37 +1 known missense c.2257 p.D753H 1.000 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12C HGNC ZCCHC6 79670 genome.wustl.edu 37 9 88960659 88960659 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 88960659 88960659 G A SNP ZCCHC6 ENST00000375963 human ensembl 70_37 -1 known silent c.744 p.L248 0.987 smart_Znf_U1 pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ZDHHC23 254887 genome.wustl.edu 37 3 113672893 113672893 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 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 ZFC3H1 196441 genome.wustl.edu 37 12 72057194 72057194 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 12 72057194 72057194 G A SNP ZFC3H1 ENST00000378743 human ensembl 70_37 -1 known missense c.197 p.S66F 1.000 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ZFHX3 463 genome.wustl.edu 37 16 72992795 72992795 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 72992795 72992795 G A SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known missense c.1250 p.S417L 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ZFHX4 79776 genome.wustl.edu 37 8 77754902 77754902 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 8 77754902 77754902 G A SNP ZFHX4 ENST00000521891 human ensembl 70_37 +1 known missense c.3406 p.E1136K 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ZNF106 64397 genome.wustl.edu 37 15 42729566 42729566 + Nonsense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 42729566 42729566 G C SNP ZFP106 ENST00000263805 human ensembl 70_37 -1 known nonsense c.4541 p.S1514* 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZFP106 HGNC ZFP36L2 678 genome.wustl.edu 37 2 43452529 43452529 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 43452529 43452529 C T SNP ZFP36L2 ENST00000282388 human ensembl 70_37 -1 known silent c.414 p.Q138 1.000 pfam_Tis11B_N pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L2 HGNC ZKSCAN2 342357 genome.wustl.edu 37 16 25266673 25266673 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 25266673 25266673 C G SNP ZKSCAN2 ENST00000328086 human ensembl 70_37 -1 known missense c.440 p.G147A 0.954 smart_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,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 ZKSCAN2 HGNC ZNF157 7712 genome.wustl.edu 37 X 47272077 47272077 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 47272077 47272077 G C SNP ZNF157 ENST00000377073 human ensembl 70_37 +1 known missense c.605 p.R202T 0.001 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 ZNF157 HGNC ZNF157 7712 genome.wustl.edu 37 X 47272385 47272385 + Missense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa X 47272385 47272385 G T SNP ZNF157 ENST00000377073 human ensembl 70_37 +1 known missense c.913 p.G305W 0.013 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 ZNF157 HGNC ZNF192P1 651302 genome.wustl.edu 37 6 28134412 28134412 + RNA SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 6 28134412 28134412 C G SNP ZNF192P1 ENST00000440790 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors ZNF192P1 HGNC ZNF197 10168 genome.wustl.edu 37 3 44683467 44683467 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 44683467 44683467 G C SNP ZNF197 ENST00000344387 human ensembl 70_37 +1 known missense c.845 p.G282A 0.974 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,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 ZNF197 HGNC ZNF197 10168 genome.wustl.edu 37 3 44683559 44683559 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 44683559 44683559 G A SNP ZNF197 ENST00000344387 human ensembl 70_37 +1 known missense c.937 p.E313K 0.007 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,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 ZNF197 HGNC ZNF205 7755 genome.wustl.edu 37 16 3165888 3165888 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 3165888 3165888 G C SNP ZNF205 ENST00000219091 human ensembl 70_37 +1 known missense c.330 p.Q110H 1.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF205 HGNC ZNF226 7769 genome.wustl.edu 37 19 44680547 44680547 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 44680547 44680547 C T SNP ZNF226 ENST00000337433 human ensembl 70_37 +1 known missense c.1132 p.L378F 0.937 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 ZNF226 HGNC ZNF233 353355 genome.wustl.edu 37 19 44777594 44777594 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 44777594 44777594 G C SNP ZNF233 ENST00000391958 human ensembl 70_37 +1 known missense c.781 p.D261H 0.471 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 ZNF233 HGNC ZNF236 7776 genome.wustl.edu 37 18 74593360 74593360 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 74593360 74593360 G T SNP ZNF236 ENST00000253159 human ensembl 70_37 +1 known nonsense c.1303 p.E435* 0.942 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ZNF260 339324 genome.wustl.edu 37 19 37005303 37005303 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 37005303 37005303 C G SNP ZNF260 ENST00000523638 human ensembl 70_37 -1 known missense c.838 p.E280Q 0.996 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF260 HGNC ZNF264 9422 genome.wustl.edu 37 19 57724321 57724321 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 57724321 57724321 G C SNP ZNF264 ENST00000263095 human ensembl 70_37 +1 known missense c.1856 p.R619T 0.637 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 ZNF264 HGNC ZNF267 10308 genome.wustl.edu 37 16 31926081 31926081 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 31926081 31926081 C T SNP ZNF267 ENST00000300870 human ensembl 70_37 +1 known missense c.511 p.H171Y 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 ZNF267 HGNC ZNF267 10308 genome.wustl.edu 37 16 31926596 31926596 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 31926596 31926596 C T SNP ZNF267 ENST00000300870 human ensembl 70_37 +1 known silent c.1026 p.I342 0.112 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 ZNF267 HGNC ZNF354C 30832 genome.wustl.edu 37 5 178506306 178506306 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 5 178506306 178506306 G A SNP ZNF354C ENST00000315475 human ensembl 70_37 +1 known silent c.873 p.L291 0.022 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 ZNF354C HGNC ZNF358 140467 genome.wustl.edu 37 19 7585260 7585260 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 7585260 7585260 C T SNP ZNF358 ENST00000394341 human ensembl 70_37 +1 known nonsense c.1132 p.Q378* 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF358 HGNC ZNF365 22891 genome.wustl.edu 37 10 64239642 64239642 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 64239642 64239642 C T SNP ZNF365 ENST00000395255 human ensembl 70_37 +1 known missense c.989 p.A330V 0.001 NULL NULL - no_errors ZNF365 HGNC ZNF37BP 100129482 genome.wustl.edu 37 10 43046052 43046052 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 10 43046052 43046052 G A SNP ZNF37BP ENST00000435805 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF37BP HGNC ZNF397 84307 genome.wustl.edu 37 18 32823228 32823228 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 32823228 32823228 C T SNP ZNF397 ENST00000330501 human ensembl 70_37 +1 known missense c.527 p.S176F 0.997 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF397 HGNC ZNF397 84307 genome.wustl.edu 37 18 32825269 32825270 + Frame_Shift_Ins INS - - T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 32825269 32825270 - T INS ZNF397 ENST00000330501 human ensembl 70_37 +1 known frame_shift_ins c.600_601 p.E200fs 0.360:0.412 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF397 HGNC ZNF397 84307 genome.wustl.edu 37 18 32825270 32825270 + Nonsense_Mutation SNP G G T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 32825270 32825270 G T SNP ZNF397 ENST00000330501 human ensembl 70_37 +1 known nonsense c.601 p.E201* 0.412 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF397 HGNC ZNF407 55628 genome.wustl.edu 37 18 72775637 72775637 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 18 72775637 72775637 C T SNP ZNF407 ENST00000299687 human ensembl 70_37 +1 known missense c.5960 p.S1987L 0.033 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ZNF423 23090 genome.wustl.edu 37 16 49670174 49670174 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 49670174 49670174 G C SNP ZNF423 ENST00000262383 human ensembl 70_37 -1 known missense c.2889 p.I963M 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ZNF432 9668 genome.wustl.edu 37 19 52537254 52537254 + Nonsense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 52537254 52537254 G A SNP ZNF432 ENST00000221315 human ensembl 70_37 -1 known nonsense c.1678 p.Q560* 1.000 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 ZNF432 HGNC ZNF471 57573 genome.wustl.edu 37 19 57036219 57036219 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 57036219 57036219 C G SNP ZNF471 ENST00000591537 human ensembl 70_37 +1 putative missense c.362 p.S121C 0.895 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF471 HGNC ZNF510 22869 genome.wustl.edu 37 9 99525475 99525475 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 9 99525475 99525475 C G SNP ZNF510 ENST00000223428 human ensembl 70_37 -1 known missense c.277 p.E93Q 0.005 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,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 ZNF510 HGNC ZNF514 84874 genome.wustl.edu 37 2 95815401 95815401 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 2 95815401 95815401 G A SNP ZNF514 ENST00000295208 human ensembl 70_37 -1 known silent c.829 p.L277 0.001 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 ZNF514 HGNC ZNF569 148266 genome.wustl.edu 37 19 37904285 37904285 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 37904285 37904285 G A SNP ZNF569 ENST00000316950 human ensembl 70_37 -1 known silent c.1275 p.F425 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF569 HGNC ZNF578 147660 genome.wustl.edu 37 19 53014312 53014312 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 53014312 53014312 G A SNP ZNF578 ENST00000421239 human ensembl 70_37 +1 known missense c.678 p.M226I 0.145 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 ZNF578 HGNC ZNF615 284370 genome.wustl.edu 37 19 52496531 52496531 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 52496531 52496531 C G SNP ZNF615 ENST00000594083 human ensembl 70_37 -1 known missense c.1831 p.E611Q 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF615 HGNC ZNF620 253639 genome.wustl.edu 37 3 40557890 40557890 + Nonsense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 3 40557890 40557890 C T SNP ZNF620 ENST00000314529 human ensembl 70_37 +1 known nonsense c.805 p.Q269* 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 ZNF620 HGNC ZNF628 89887 genome.wustl.edu 37 19 55994438 55994438 + Silent SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 55994438 55994438 C A SNP ZNF628 ENST00000598519 human ensembl 70_37 +1 known silent c.1878 p.I626 0.235 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF628 HGNC ZNF646 9726 genome.wustl.edu 37 16 31092656 31092656 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 16 31092656 31092656 G A SNP ZNF646 ENST00000300850 human ensembl 70_37 +1 known missense c.5011 p.E1671K 0.155 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ZNF677 342926 genome.wustl.edu 37 19 53754791 53754791 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 53754791 53754791 G C SNP ZNF677 ENST00000333952 human ensembl 70_37 -1 known missense c.13 p.Q5E 0.154 superfamily_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 ZNF677 HGNC ZNF695 57116 genome.wustl.edu 37 1 247163260 247163260 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 1 247163260 247163260 C T SNP ZNF695 ENST00000339986 human ensembl 70_37 -1 known silent c.120 p.L40 0.677 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,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 ZNF695 HGNC ZNF71 58491 genome.wustl.edu 37 19 57134007 57134007 + Missense_Mutation SNP C C A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 57134007 57134007 C A SNP ZNF71 ENST00000328070 human ensembl 70_37 +1 known missense c.1352 p.S451Y 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ZNF724P 440519 genome.wustl.edu 37 19 23405575 23405575 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 23405575 23405575 G A SNP ZNF724P ENST00000418100 human ensembl 70_37 -1 novel missense c.1472 p.S491L 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF724P HGNC ZNF727 442319 genome.wustl.edu 37 7 63538876 63538876 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 7 63538876 63538876 G C SNP ZNF727 ENST00000550760 human ensembl 70_37 +1 known missense c.1449 p.K483N 0.069 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 ZNF727 HGNC ZNF749 388567 genome.wustl.edu 37 19 57954952 57954952 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 57954952 57954952 C T SNP ZNF749 ENST00000334181 human ensembl 70_37 +1 known missense c.436 p.H146Y 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 ZNF749 HGNC ZNF761 388561 genome.wustl.edu 37 19 53960251 53960251 + RNA SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 53960251 53960251 G A SNP ZNF761 ENST00000334095 human ensembl 70_37 +1 known rna NULL NULL 0.051 - - - no_errors ZNF761 HGNC ZNF799 90576 genome.wustl.edu 37 19 12502923 12502923 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 12502923 12502923 G A SNP ZNF799 ENST00000430385 human ensembl 70_37 -1 known missense c.289 p.L97F 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 ZNF799 HGNC ZNF8 7554 genome.wustl.edu 37 19 58806852 58806852 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 58806852 58806852 G A SNP ZNF8 ENST00000196548 human ensembl 70_37 +1 known missense c.1678 p.E560K 1.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF8 HGNC ZNF826P 664701 genome.wustl.edu 37 19 20607687 20607687 + RNA SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 20607687 20607687 G C SNP ZNF826P ENST00000502675 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF826P HGNC ZNF845 91664 genome.wustl.edu 37 19 53854421 53854421 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 53854421 53854421 G C SNP ZNF845 ENST00000458035 human ensembl 70_37 +1 known missense c.493 p.E165Q 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF845 HGNC ZNF85 7639 genome.wustl.edu 37 19 21117813 21117813 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 21117813 21117813 G C SNP ZNF85 ENST00000328178 human ensembl 70_37 +1 known missense c.189 p.W63C 0.013 smart_Krueppel-associated_box,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 ZNF85 HGNC ZNF850 342892 genome.wustl.edu 37 19 37239538 37239538 + Nonsense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 37239538 37239538 G A SNP ZNF850 ENST00000591344 human ensembl 70_37 -1 known nonsense c.2404 p.Q802* 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 ZNF850 HGNC ZNF98 148198 genome.wustl.edu 37 19 22715225 22715225 + RNA SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 22715225 22715225 C T SNP ZNF98 ENST00000599879 human ensembl 70_37 -1 putative rna NULL NULL 0.005 - - - no_errors ZNF98 HGNC ZNFX1 57169 genome.wustl.edu 37 20 47872368 47872368 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 20 47872368 47872368 G A SNP ZNFX1 ENST00000371752 human ensembl 70_37 -1 known silent c.2781 p.L927 0.990 NULL superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ZSCAN22 342945 genome.wustl.edu 37 19 58850041 58850041 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 19 58850041 58850041 G A SNP ZSCAN22 ENST00000329665 human ensembl 70_37 +1 known silent c.825 p.K275 0.121 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN22 HGNC ZSCAN29 146050 genome.wustl.edu 37 15 43662089 43662089 + Missense_Mutation SNP C C G TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52a083c8-1fab-4231-ba39-ed198964c290 0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa 15 43662089 43662089 C G SNP ZSCAN29 ENST00000396976 human ensembl 70_37 -1 known missense c.23 p.R8T 1.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN29 HGNC