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 AASS 10157 genome.wustl.edu 37 7 121731835 121731835 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 121731835 121731835 C G SNP AASS ENST00000393376 human ensembl 70_37 -1 known missense c.1938 p.L646F 1.000 pfam_Saccharopine_DH/HSpermid_syn pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N - no_errors AASS HGNC ABCA3 21 genome.wustl.edu 37 16 2345606 2345606 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 2345606 2345606 C T SNP ABCA3 ENST00000301732 human ensembl 70_37 -1 known missense c.2399 p.R800K 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ABCA4 24 genome.wustl.edu 37 1 94461721 94461721 + Nonsense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 94461721 94461721 C A SNP ABCA4 ENST00000370225 human ensembl 70_37 -1 known nonsense c.6760 p.E2254* 1.000 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ABCC10 89845 genome.wustl.edu 37 6 43410728 43410728 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 43410728 43410728 C T SNP ABCC10 ENST00000372530 human ensembl 70_37 +1 known silent c.2247 p.L749 0.001 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC10 HGNC ABCC3 8714 genome.wustl.edu 37 17 48745873 48745873 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 48745873 48745873 C T SNP ABCC3 ENST00000285238 human ensembl 70_37 +1 known missense c.1865 p.S622F 1.000 tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC3 HGNC ABCC4 10257 genome.wustl.edu 37 13 95839079 95839079 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 13 95839079 95839079 C G SNP ABCC4 ENST00000376887 human ensembl 70_37 -1 known missense c.1421 p.R474T 0.475 pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ABCC6 368 genome.wustl.edu 37 16 16291890 16291890 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 16291890 16291890 G C SNP ABCC6 ENST00000205557 human ensembl 70_37 -1 known silent c.1326 p.V442 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ABCC6 368 genome.wustl.edu 37 16 16295943 16295943 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 16295943 16295943 G A SNP ABCC6 ENST00000205557 human ensembl 70_37 -1 known missense c.1091 p.T364M 0.977 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ABCG1 9619 genome.wustl.edu 37 21 43704687 43704687 + Missense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 21 43704687 43704687 C A SNP ABCG1 ENST00000398437 human ensembl 70_37 +1 known missense c.1190 p.S397Y 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease - no_errors ABCG1 HGNC ABCG1 9619 genome.wustl.edu 37 21 43704738 43704738 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 21 43704738 43704738 C G SNP ABCG1 ENST00000398437 human ensembl 70_37 +1 known missense c.1241 p.S414C 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease - no_errors ABCG1 HGNC ABCG1 9619 genome.wustl.edu 37 21 43704742 43704742 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 21 43704742 43704742 C T SNP ABCG1 ENST00000398437 human ensembl 70_37 +1 known silent c.1245 p.I415 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease - no_errors ABCG1 HGNC ABHD3 171586 genome.wustl.edu 37 18 19283676 19283676 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 18 19283676 19283676 G A SNP ABHD3 ENST00000289119 human ensembl 70_37 -1 known silent c.195 p.F65 1.000 pirsf_AB-Hydro_YheT pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT - no_errors ABHD3 HGNC ABI1 10006 genome.wustl.edu 37 10 27052880 27052880 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 27052880 27052880 G C SNP ABI1 ENST00000355394 human ensembl 70_37 -1 known missense c.833 p.S278C 1.000 prints_p67phox pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox - no_errors ABI1 HGNC ACAP2 23527 genome.wustl.edu 37 3 195016553 195016553 + Nonsense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 195016553 195016553 G T SNP ACAP2 ENST00000326793 human ensembl 70_37 -1 known nonsense c.1556 p.S519* 0.032 smart_ArfGAP,pfscan_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 ACAP2 HGNC ACOX2 8309 genome.wustl.edu 37 3 58490952 58490952 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 58490952 58490952 C T SNP ACOX2 ENST00000302819 human ensembl 70_37 -1 known silent c.2045 p.*682 0.999 NULL 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 ACPT 93650 genome.wustl.edu 37 19 51297070 51297070 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 51297070 51297070 G A SNP ACPT ENST00000270594 human ensembl 70_37 +1 known missense c.496 p.G166R 0.998 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACPT HGNC ACR 49 genome.wustl.edu 37 22 51182581 51182581 + Nonsense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 51182581 51182581 C T SNP ACR ENST00000216139 human ensembl 70_37 +1 known nonsense c.658 p.Q220* 0.010 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_acrosin,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_acrosin,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors ACR HGNC ACSM2A 123876 genome.wustl.edu 37 16 20492226 20492226 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 20492226 20492226 G C SNP ACSM2A ENST00000219054 human ensembl 70_37 +1 known missense c.1492 p.D498H 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM2A HGNC ACTR6 64431 genome.wustl.edu 37 12 100603861 100603861 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 100603861 100603861 C G SNP ACTR6 ENST00000188312 human ensembl 70_37 +1 known silent c.390 p.L130 0.996 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like - no_errors ACTR6 HGNC ADAM15 8751 genome.wustl.edu 37 1 155023353 155023353 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 155023353 155023353 C G SNP ADAM15 ENST00000473905 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors ADAM15 HGNC ADAMTSL1 92949 genome.wustl.edu 37 9 18777070 18777070 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 18777070 18777070 C G SNP ADAMTSL1 ENST00000380548 human ensembl 70_37 +1 novel nonsense c.2843 p.S948* 0.277 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,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 ADAMTSL1 HGNC ADAR 103 genome.wustl.edu 37 1 154562688 154562688 + Nonsense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 154562688 154562688 G C SNP ADAR ENST00000292205 human ensembl 70_37 -1 known nonsense c.2597 p.S866* 0.945 NULL pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_Ds-RNA-bd,smart_dsRNA_A_deaminase,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_dsRNA_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC ADC 0 genome.wustl.edu 37 1 33549552 33549552 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 33549552 33549552 C T SNP ADC ENST00000478204 human ensembl 70_37 +1 known rna NULL NULL 0.982 - - - no_errors ADC HGNC ADGB 79747 genome.wustl.edu 37 6 147103320 147103320 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 147103320 147103320 G C SNP ADGB ENST00000397944 human ensembl 70_37 +1 known missense c.4027 p.E1343Q 0.992 NULL pfam_Peptidase_C2_calpain_cat,superfamily_Globin-like,smart_Peptidase_C2_calpain_cat,pfscan_IQ_motif_EF-hand-BS,pfscan_Peptidase_C2_calpain_cat - no_errors ADGB HGNC ADIPOR2 79602 genome.wustl.edu 37 12 1863672 1863672 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 1863672 1863672 C G SNP ADIPOR2 ENST00000357103 human ensembl 70_37 +1 known missense c.163 p.H55D 0.799 NULL pfam_HlyIII-related - no_errors ADIPOR2 HGNC ADORA3 140 genome.wustl.edu 37 1 112106482 112106482 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 112106482 112106482 C G SNP ADORA3 ENST00000369717 human ensembl 70_37 -1 known missense c.93 p.L31F 0.000 NULL NULL - no_errors ADORA3 HGNC AFTPH 54812 genome.wustl.edu 37 2 64800109 64800109 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 64800109 64800109 G A SNP AFTPH ENST00000422803 human ensembl 70_37 +1 known silent c.2301 p.L767 1.000 NULL NULL - no_errors AFTPH HGNC AGAP3 116988 genome.wustl.edu 37 7 150814771 150814771 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 150814771 150814771 G A SNP AGAP3 ENST00000397238 human ensembl 70_37 +1 known missense c.613 p.E205K 1.000 pfam_MIRO-like,pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP3 HGNC AGFG1 3267 genome.wustl.edu 37 2 228389568 228389568 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 228389568 228389568 C T SNP AGFG1 ENST00000409979 human ensembl 70_37 +1 known missense c.631 p.P211S 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors AGFG1 HGNC HYKK 123688 genome.wustl.edu 37 15 78810942 78810942 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 78810942 78810942 C T SNP AGPHD1 ENST00000360519 human ensembl 70_37 +1 known missense c.490 p.R164C 0.001 NULL pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom - no_errors AGPHD1 HGNC AGT 183 genome.wustl.edu 37 1 230846455 230846455 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 230846455 230846455 C T SNP AGT ENST00000366667 human ensembl 70_37 -1 known missense c.142 p.E48K 0.017 NULL pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Angiotensngn - no_errors AGT HGNC AGTPBP1 23287 genome.wustl.edu 37 9 88162079 88162079 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 88162079 88162079 G A SNP AGTPBP1 ENST00000376109 human ensembl 70_37 -1 known missense c.3662 p.S1221F 1.000 NULL pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC AIP 9049 genome.wustl.edu 37 11 67256905 67256905 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 67256905 67256905 C G SNP AIP ENST00000279146 human ensembl 70_37 +1 known missense c.447 p.I149M 1.000 NULL pfam_PPIase_FKBP_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors AIP HGNC AKAP17A 8227 genome.wustl.edu 37 X 1712389 1712389 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 1712389 1712389 G C SNP AKAP17A ENST00000313871 human ensembl 70_37 +1 known missense c.34 p.E12Q 1.000 NULL NULL - no_errors AKAP17A HGNC AK9 221264 genome.wustl.edu 37 6 109894651 109894651 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 109894651 109894651 C G SNP AKD1 ENST00000424296 human ensembl 70_37 -1 known missense c.2338 p.E780Q 0.061 NULL pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase - no_errors AKD1 HGNC AKNA 80709 genome.wustl.edu 37 9 117108028 117108028 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 117108028 117108028 G A SNP AKNA ENST00000492875 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AKNA HGNC AKR1B15 441282 genome.wustl.edu 37 7 134254236 134254236 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 134254236 134254236 G A SNP AKR1B15 ENST00000423958 human ensembl 70_37 +1 known silent c.306 p.L102 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1B15 HGNC ALDOA 226 genome.wustl.edu 37 16 30077131 30077131 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 30077131 30077131 C G SNP ALDOA ENST00000566012 human ensembl 70_37 +1 known rna NULL NULL 0.791 - - - no_errors ALDOA HGNC ALG13 79868 genome.wustl.edu 37 X 110988027 110988027 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 110988027 110988027 C T SNP ALG13 ENST00000394780 human ensembl 70_37 +1 putative missense c.2827 p.P943S 0.003 NULL pfam_Glyco_trans_28_C,pfam_OTU,pfscan_OTU,pfscan_Tudor - no_errors ALG13 HGNC ALKBH6 84964 genome.wustl.edu 37 19 36504311 36504311 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 36504311 36504311 C T SNP ALKBH6 ENST00000378875 human ensembl 70_37 -1 known missense c.73 p.E25K 0.490 NULL pfam_Oxoglu/Fe-dep_dioxygenase - no_errors ALKBH6 HGNC ALMS1 7840 genome.wustl.edu 37 2 73675942 73675942 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 73675942 73675942 C T SNP ALMS1 ENST00000264448 human ensembl 70_37 +1 known missense c.2285 p.S762F 0.000 NULL NULL - no_errors ALMS1 HGNC ALPK3 57538 genome.wustl.edu 37 15 85370781 85370781 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 85370781 85370781 C T SNP ALPK3 ENST00000258888 human ensembl 70_37 +1 known silent c.855 p.L285 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK3 HGNC ALS2CR11 151254 genome.wustl.edu 37 2 202360633 202360633 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 202360633 202360633 G C SNP ALS2CR11 ENST00000286195 human ensembl 70_37 -1 known missense c.1566 p.F522L 0.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors ALS2CR11 HGNC AMMECR1 9949 genome.wustl.edu 37 X 109561025 109561025 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 109561025 109561025 C G SNP AMMECR1 ENST00000262844 human ensembl 70_37 -1 known missense c.275 p.G92A 1.000 NULL pfam_AMMECR1_domain,pfscan_AMMECR1_domain,tigrfam_AMMECR1 - no_errors AMMECR1 HGNC ANAPC15 25906 genome.wustl.edu 37 11 71818648 71818648 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 71818648 71818648 G A SNP ANAPC15 ENST00000543050 human ensembl 70_37 -1 putative missense c.322 p.H108Y 0.002 NULL NULL - no_errors ANAPC15 HGNC ANAPC2 29882 genome.wustl.edu 37 9 140082173 140082173 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 140082173 140082173 C T SNP ANAPC2 ENST00000323927 human ensembl 70_37 -1 known missense c.500 p.R167K 0.225 NULL pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology - no_errors ANAPC2 HGNC ANK3 288 genome.wustl.edu 37 10 61847972 61847972 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 61847972 61847972 G A SNP ANK3 ENST00000280772 human ensembl 70_37 -1 known missense c.3473 p.T1158I 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 ANKAR 150709 genome.wustl.edu 37 2 190611212 190611212 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 190611212 190611212 G C SNP ANKAR ENST00000313581 human ensembl 70_37 +1 known missense c.4164 p.K1388N 0.340 NULL pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Armadillo,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Armadillo - no_errors ANKAR HGNC ANKFN1 162282 genome.wustl.edu 37 17 54535256 54535256 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 54535256 54535256 G C SNP ANKFN1 ENST00000318698 human ensembl 70_37 +1 known silent c.1482 p.L494 0.816 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3 - no_errors ANKFN1 HGNC ANKFN1 162282 genome.wustl.edu 37 17 54588061 54588061 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 54588061 54588061 G A SNP ANKFN1 ENST00000566473 human ensembl 70_37 +1 novel missense c.2881 p.E961K 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3 - no_errors ANKFN1 HGNC ANKRD12 23253 genome.wustl.edu 37 18 9257210 9257210 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 18 9257210 9257210 C T SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known silent c.3945 p.V1315 0.996 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 ANKRD12 HGNC ANKRD12 23253 genome.wustl.edu 37 18 9258423 9258423 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 18 9258423 9258423 G A SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known missense c.5158 p.E1720K 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ANO1 55107 genome.wustl.edu 37 11 70028709 70028709 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 70028709 70028709 C G SNP ANO1 ENST00000355303 human ensembl 70_37 +1 known silent c.2505 p.L835 0.962 pfam_Anoctamin pfam_Anoctamin - no_errors ANO1 HGNC ANP32B 10541 genome.wustl.edu 37 9 100777654 100777654 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 100777654 100777654 G C SNP ANP32B ENST00000339399 human ensembl 70_37 +1 known missense c.697 p.E233Q 1.000 NULL smart_U2A'_phosphoprotein32A_C - no_errors ANP32B HGNC AP1S3 130340 genome.wustl.edu 37 2 224629953 224629953 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 224629953 224629953 C T SNP AP1S3 ENST00000443700 human ensembl 70_37 -1 known missense c.406 p.E136K 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP1S3 HGNC AP2A2 161 genome.wustl.edu 37 11 994122 994122 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 994122 994122 C G SNP AP2A2 ENST00000332231 human ensembl 70_37 +1 known missense c.1836 p.I612M 1.000 pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A2 HGNC AP2B1 163 genome.wustl.edu 37 17 33925300 33925300 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 33925300 33925300 G T SNP AP2B1 ENST00000312678 human ensembl 70_37 +1 known missense c.89 p.R30I 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP2B1 HGNC AP4B1 10717 genome.wustl.edu 37 1 114438460 114438460 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 114438460 114438460 G A SNP AP4B1 ENST00000256658 human ensembl 70_37 -1 known missense c.1711 p.H571Y 0.996 superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4 - no_errors AP4B1 HGNC APBA2 321 genome.wustl.edu 37 15 29346175 29346175 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 29346175 29346175 G C SNP APBA2 ENST00000558259 human ensembl 70_37 +1 known missense c.88 p.E30Q 0.016 NULL pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom - no_errors APBA2 HGNC APTX 54840 genome.wustl.edu 37 9 32973534 32973534 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 32973534 32973534 G C SNP APTX ENST00000379819 human ensembl 70_37 -1 known missense c.1033 p.Q345E 1.000 NULL pfam_Histidine_triad_HIT,superfamily_HIT-like,superfamily_SMAD_FHA_domain,pfscan_Histidine_triad_HIT - no_errors APTX HGNC AQPEP 206338 genome.wustl.edu 37 5 115319106 115319106 + Missense_Mutation SNP T T A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 115319106 115319106 T A SNP AQPEP ENST00000357872 human ensembl 70_37 +1 known missense c.818 p.L273H 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_genename AR 367 genome.wustl.edu 37 X 66765338 66765338 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 66765338 66765338 C T SNP AR ENST00000374690 human ensembl 70_37 +1 known missense c.350 p.S117L 0.736 pfam_Andrgn_rcpt 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 ARFGEF1 10565 genome.wustl.edu 37 8 68116935 68116935 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 68116935 68116935 C T SNP ARFGEF1 ENST00000262215 human ensembl 70_37 -1 known missense c.4939 p.E1647K 1.000 NULL pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF1 HGNC ARHGAP42 143872 genome.wustl.edu 37 11 100845331 100845331 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 100845331 100845331 G C SNP ARHGAP42 ENST00000298815 human ensembl 70_37 +1 known missense c.1852 p.D618H 0.998 NULL pfam_RhoGAP_dom,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP42 HGNC ARHGEF28 64283 genome.wustl.edu 37 5 73153511 73153511 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 73153511 73153511 C T SNP ARHGEF28 ENST00000545377 human ensembl 70_37 +1 known silent c.1821 p.I607 0.982 NULL pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF28 HGNC ARHGEF4 50649 genome.wustl.edu 37 2 131797983 131797983 + Silent SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 131797983 131797983 G T SNP ARHGEF4 ENST00000326016 human ensembl 70_37 +1 known silent c.1074 p.L358 0.993 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF4 HGNC ARMCX1 51309 genome.wustl.edu 37 X 100808136 100808136 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 100808136 100808136 G C SNP ARMCX1 ENST00000372829 human ensembl 70_37 +1 known missense c.223 p.E75Q 0.002 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMCX1 HGNC ARMCX4 100131755 genome.wustl.edu 37 X 100747723 100747723 + Nonsense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 100747723 100747723 C T SNP ARMCX4 ENST00000423738 human ensembl 70_37 +1 putative nonsense c.4147 p.Q1383* 0.164 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX4 HGNC ARPC5 10092 genome.wustl.edu 37 1 183595671 183595671 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 183595671 183595671 G A SNP ARPC5 ENST00000462965 human ensembl 70_37 -1 known rna NULL NULL 0.170 - - - no_errors ARPC5 HGNC ARRB1 408 genome.wustl.edu 37 11 74994373 74994373 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 74994373 74994373 G C SNP ARRB1 ENST00000393505 human ensembl 70_37 -1 known silent c.312 p.L104 1.000 pfam_Arrestin-like_N,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors ARRB1 HGNC ARSF 416 genome.wustl.edu 37 X 3030566 3030566 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 3030566 3030566 C T SNP ARSF ENST00000359361 human ensembl 70_37 +1 known missense c.1742 p.S581F 0.000 NULL pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ARSF HGNC ASB17 127247 genome.wustl.edu 37 1 76397629 76397629 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 76397629 76397629 C T SNP ASB17 ENST00000284142 human ensembl 70_37 -1 known silent c.348 p.K116 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_SOCS_C,pfscan_SOCS_C - no_errors ASB17 HGNC ASPN 54829 genome.wustl.edu 37 9 95236914 95236914 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 95236914 95236914 G A SNP ASPN ENST00000375544 human ensembl 70_37 -1 known missense c.266 p.S89L 1.000 pfam_LRR-contain_N,smart_LRR-contain_N,pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors ASPN HGNC ASTN1 460 genome.wustl.edu 37 1 176838073 176838073 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 176838073 176838073 G A SNP ASTN1 ENST00000367654 human ensembl 70_37 -1 known missense c.3578 p.S1193F 0.989 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ASXL1 171023 genome.wustl.edu 37 20 31023127 31023127 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 31023127 31023127 C G SNP ASXL1 ENST00000375687 human ensembl 70_37 +1 known nonsense c.2612 p.S871* 0.277 NULL NULL - no_errors ASXL1 HGNC ASXL2 55252 genome.wustl.edu 37 2 26022384 26022384 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 26022384 26022384 C T SNP ASXL2 ENST00000435504 human ensembl 70_37 -1 known silent c.273 p.V91 0.999 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ATAD3B 83858 genome.wustl.edu 37 1 1418033 1418033 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 1418033 1418033 G C SNP ATAD3B ENST00000378741 human ensembl 70_37 +1 known missense c.285 p.E95D 0.000 pfam_DUF3523 pfam_DUF3523 - no_errors ATAD3B HGNC ATF7IP2 80063 genome.wustl.edu 37 16 10575839 10575839 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 10575839 10575839 G A SNP ATF7IP2 ENST00000356427 human ensembl 70_37 +1 known silent c.1782 p.L594 0.999 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3 - no_errors ATF7IP2 HGNC ATG9B 285973 genome.wustl.edu 37 7 150710472 150710472 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 150710472 150710472 G C SNP ATG9B ENST00000377974 human ensembl 70_37 -1 known rna NULL NULL 0.023 - - - no_errors ATG9B HGNC ATL1 51062 genome.wustl.edu 37 14 51094938 51094938 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 51094938 51094938 G A SNP ATL1 ENST00000357032 human ensembl 70_37 +1 known missense c.1309 p.D437N 1.000 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors ATL1 HGNC ATP10B 23120 genome.wustl.edu 37 5 160114974 160114974 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 160114974 160114974 C G SNP ATP10B ENST00000327245 human ensembl 70_37 -1 known silent c.108 p.G36 0.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10B HGNC ATP13A2 23400 genome.wustl.edu 37 1 17326795 17326795 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 17326795 17326795 G C SNP ATP13A2 ENST00000326735 human ensembl 70_37 -1 known missense c.853 p.L285V 0.949 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A2 HGNC ATP1B4 23439 genome.wustl.edu 37 X 119513442 119513442 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 119513442 119513442 G A SNP ATP1B4 ENST00000218008 human ensembl 70_37 +1 known missense c.1027 p.D343N 1.000 pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu - no_errors ATP1B4 HGNC ATP6V0E2 155066 genome.wustl.edu 37 7 149571220 149571220 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 149571220 149571220 C T SNP ATP6V0E2 ENST00000421974 human ensembl 70_37 +1 known silent c.213 p.I71 1.000 pfam_ATPase_V0-cplx_esu pfam_ATPase_V0-cplx_esu - no_errors ATP6V0E2 HGNC ATPIF1 93974 genome.wustl.edu 37 1 28562908 28562908 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 28562908 28562908 G A SNP ATPIF1 ENST00000335514 human ensembl 70_37 +1 known missense c.124 p.E42K 1.000 pfam_ATPase_inhibitor_IATP_mt pfam_ATPase_inhibitor_IATP_mt - no_errors ATPIF1 HGNC ATPIF1 93974 genome.wustl.edu 37 1 28564291 28564291 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 28564291 28564291 G C SNP ATPIF1 ENST00000497986 human ensembl 70_37 +1 known missense c.199 p.E67Q 0.064 NULL pfam_ATPase_inhibitor_IATP_mt - no_errors ATPIF1 HGNC ATXN2L 11273 genome.wustl.edu 37 16 28843855 28843855 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 28843855 28843855 G C SNP ATXN2L ENST00000395547 human ensembl 70_37 +1 known missense c.1555 p.E519Q 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ATXN2L 11273 genome.wustl.edu 37 16 28844464 28844464 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 28844464 28844464 G C SNP ATXN2L ENST00000395547 human ensembl 70_37 +1 known missense c.1744 p.E582Q 0.965 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ATXN2L 11273 genome.wustl.edu 37 16 28844674 28844674 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 28844674 28844674 G A SNP ATXN2L ENST00000395547 human ensembl 70_37 +1 known missense c.1954 p.E652K 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ATXN3L 92552 genome.wustl.edu 37 X 13337060 13337060 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 13337060 13337060 C G SNP ATXN3L ENST00000380622 human ensembl 70_37 -1 known missense c.994 p.G332R 0.010 NULL pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin - no_errors ATXN3L HGNC B3GNT8 374907 genome.wustl.edu 37 19 41932015 41932015 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 41932015 41932015 G C SNP B3GNT8 ENST00000321702 human ensembl 70_37 -1 known silent c.669 p.L223 0.996 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GNT8 HGNC BACH2 60468 genome.wustl.edu 37 6 90718406 90718406 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 90718406 90718406 G A SNP BACH2 ENST00000257749 human ensembl 70_37 -1 known missense c.158 p.A53V 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC BAG6 7917 genome.wustl.edu 37 6 31610002 31610002 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 31610002 31610002 G A SNP BAG6 ENST00000404765 human ensembl 70_37 -1 known missense c.2222 p.S741F 1.000 NULL pfam_DUF3538,pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors BAG6 HGNC BAHD1 22893 genome.wustl.edu 37 15 40751231 40751231 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 40751231 40751231 G A SNP BAHD1 ENST00000416165 human ensembl 70_37 +1 known missense c.568 p.D190N 0.982 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHD1 HGNC BAZ1B 9031 genome.wustl.edu 37 7 72891336 72891336 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 72891336 72891336 C G SNP BAZ1B ENST00000339594 human ensembl 70_37 -1 known missense c.2455 p.D819H 0.075 superfamily_ARM-type_fold pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC BAZ1B 9031 genome.wustl.edu 37 7 72892765 72892765 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 72892765 72892765 C G SNP BAZ1B ENST00000339594 human ensembl 70_37 -1 known missense c.1026 p.L342F 1.000 NULL pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC BAZ2B 29994 genome.wustl.edu 37 2 160318947 160318947 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 160318947 160318947 C G SNP BAZ2B ENST00000483316 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors BAZ2B HGNC BCKDK 10295 genome.wustl.edu 37 16 31121765 31121765 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 31121765 31121765 C T SNP BCKDK ENST00000219794 human ensembl 70_37 +1 known missense c.587 p.S196L 1.000 pfam_BCDHK/PDK_N,superfamily_BCDHK/PDK_N pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core,prints_Sig_transdc_His_kin-like_C - no_errors BCKDK HGNC BEST3 144453 genome.wustl.edu 37 12 70037512 70037512 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 70037512 70037512 G C SNP BEST3 ENST00000331471 human ensembl 70_37 -1 known missense c.1156 p.Q386E 0.000 NULL pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC BLOC1S3 388552 genome.wustl.edu 37 19 45684652 45684652 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 45684652 45684652 C T SNP BLOC1S3 ENST00000588362 human ensembl 70_37 +1 putative rna NULL NULL 0.001 - - - no_errors BLOC1S3 HGNC BPIFB3 359710 genome.wustl.edu 37 20 31656683 31656683 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 31656683 31656683 C G SNP BPIFB3 ENST00000375494 human ensembl 70_37 +1 known silent c.1053 p.L351 0.353 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB3 HGNC BRWD3 254065 genome.wustl.edu 37 X 79999748 79999748 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 79999748 79999748 G A SNP BRWD3 ENST00000373275 human ensembl 70_37 -1 known missense c.596 p.S199L 1.000 pfam_WD40_repeat,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC BTAF1 9044 genome.wustl.edu 37 10 93778648 93778648 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 93778648 93778648 C G SNP BTAF1 ENST00000265990 human ensembl 70_37 +1 known missense c.4819 p.L1607V 1.000 NULL pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors BTAF1 HGNC BTBD11 121551 genome.wustl.edu 37 12 107937845 107937845 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 107937845 107937845 C T SNP BTBD11 ENST00000280758 human ensembl 70_37 +1 known silent c.1419 p.F473 1.000 NULL pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC BTN2A1 11120 genome.wustl.edu 37 6 26468258 26468258 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 26468258 26468258 C T SNP BTN2A1 ENST00000312541 human ensembl 70_37 +1 known silent c.1065 p.F355 0.000 superfamily_ConA-like_lec_gl_sf,smart_PRY,prints_Butyrophylin,pfscan_B30.2/SPRY 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 C10orf12 26148 genome.wustl.edu 37 10 98742267 98742267 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 98742267 98742267 G A SNP C10orf12 ENST00000286067 human ensembl 70_37 +1 known missense c.1120 p.D374N 0.097 NULL NULL - no_errors C10orf12 HGNC C11orf63 79864 genome.wustl.edu 37 11 122805695 122805695 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 122805695 122805695 C G SNP C11orf63 ENST00000227349 human ensembl 70_37 +1 known missense c.1546 p.H516D 0.000 NULL NULL - no_errors C11orf63 HGNC SMCO2 341346 genome.wustl.edu 37 12 27628604 27628604 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 27628604 27628604 G A SNP C12orf70 ENST00000416383 human ensembl 70_37 +1 known missense c.452 p.G151E 0.059 NULL NULL - no_errors C12orf70 HGNC C12orf71 728858 genome.wustl.edu 37 12 27235002 27235002 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 27235002 27235002 G C SNP C12orf71 ENST00000429849 human ensembl 70_37 -1 known missense c.415 p.Q139E 0.013 NULL NULL - no_errors C12orf71 HGNC C14orf182 283551 genome.wustl.edu 37 14 50472203 50472203 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 50472203 50472203 G A SNP C14orf182 ENST00000529902 human ensembl 70_37 -1 known rna NULL NULL 0.013 - - - no_errors C14orf182 HGNC C16orf72 29035 genome.wustl.edu 37 16 9196861 9196861 + Nonsense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 9196861 9196861 C T SNP C16orf72 ENST00000327827 human ensembl 70_37 +1 known nonsense c.328 p.R110* 1.000 NULL NULL - no_errors C16orf72 HGNC C17orf107 100130311 genome.wustl.edu 37 17 4803096 4803096 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 4803096 4803096 G C SNP C17orf107 ENST00000381365 human ensembl 70_37 +1 known missense c.39 p.W13C 1.000 NULL NULL - no_errors C17orf107 HGNC C18orf25 147339 genome.wustl.edu 37 18 43796150 43796150 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 18 43796150 43796150 C T SNP C18orf25 ENST00000282059 human ensembl 70_37 +1 putative missense c.304 p.H102Y 1.000 NULL NULL - no_errors C18orf25 HGNC C1QTNF6 114904 genome.wustl.edu 37 22 37581360 37581360 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 37581360 37581360 C G SNP C1QTNF6 ENST00000337843 human ensembl 70_37 -1 known missense c.187 p.E63Q 0.000 NULL pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF6 HGNC C1orf123 54987 genome.wustl.edu 37 1 53686129 53686129 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 53686129 53686129 C T SNP C1orf123 ENST00000470385 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors C1orf123 HGNC C1orf159 54991 genome.wustl.edu 37 1 1017588 1017588 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 1017588 1017588 G C SNP C1orf159 ENST00000464905 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors C1orf159 HGNC C1orf159 54991 genome.wustl.edu 37 1 1018005 1018005 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 1018005 1018005 G A SNP C1orf159 ENST00000464905 human ensembl 70_37 -1 known rna NULL NULL 0.014 - - - no_errors C1orf159 HGNC C1orf204 284677 genome.wustl.edu 37 1 159810630 159810630 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 159810630 159810630 G C SNP C1orf204 ENST00000368102 human ensembl 70_37 -1 novel missense c.469 p.P157A 0.001 NULL NULL - no_errors C1orf204 HGNC C1orf226 400793 genome.wustl.edu 37 1 162353381 162353381 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 162353381 162353381 G A SNP C1orf226 ENST00000426197 human ensembl 70_37 +1 known missense c.856 p.E286K 0.992 NULL NULL - no_errors C1orf226 HGNC C1orf35 79169 genome.wustl.edu 37 1 228289722 228289722 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 228289722 228289722 C T SNP C1orf35 ENST00000469781 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf35 HGNC C1orf87 127795 genome.wustl.edu 37 1 60463473 60463473 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 60463473 60463473 C T SNP C1orf87 ENST00000371201 human ensembl 70_37 -1 known missense c.1288 p.E430K 0.035 NULL NULL - no_errors C1orf87 HGNC C1orf87 127795 genome.wustl.edu 37 1 60474327 60474327 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 60474327 60474327 C T SNP C1orf87 ENST00000395552 human ensembl 70_37 -1 known silent c.87 p.L29 0.000 NULL NULL - no_errors C1orf87 HGNC C1orf95 375057 genome.wustl.edu 37 1 226784513 226784513 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 226784513 226784513 C G SNP C1orf95 ENST00000366788 human ensembl 70_37 +1 known silent c.213 p.V71 1.000 NULL NULL - no_errors C1orf95 HGNC C20orf166-AS1 253868 genome.wustl.edu 37 20 61143780 61143780 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 61143780 61143780 C T SNP C20orf166-AS1 ENST00000412495 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C20orf166-AS1 HGNC C20orf173 140873 genome.wustl.edu 37 20 34116570 34116570 + Missense_Mutation SNP T T A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 34116570 34116570 T A SNP C20orf173 ENST00000444723 human ensembl 70_37 -1 known missense c.448 p.S150C 0.000 NULL NULL - no_errors C20orf173 HGNC C20orf173 140873 genome.wustl.edu 37 20 34116651 34116651 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 34116651 34116651 G C SNP C20orf173 ENST00000444723 human ensembl 70_37 -1 known missense c.367 p.P123A 0.848 NULL NULL - no_errors C20orf173 HGNC C20orf173 140873 genome.wustl.edu 37 20 34116795 34116795 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 34116795 34116795 G A SNP C20orf173 ENST00000246199 human ensembl 70_37 -1 known missense c.64 p.H22Y 0.001 NULL NULL - no_errors C20orf173 HGNC C20orf173 140873 genome.wustl.edu 37 20 34116809 34116809 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 34116809 34116809 G T SNP C20orf173 ENST00000246199 human ensembl 70_37 -1 known missense c.50 p.P17H 0.001 NULL NULL - no_errors C20orf173 HGNC C2CD3 26005 genome.wustl.edu 37 11 73748734 73748734 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 73748734 73748734 C T SNP C2CD3 ENST00000334126 human ensembl 70_37 -1 known silent c.5670 p.L1890 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors C2CD3 HGNC C2orf62 375307 genome.wustl.edu 37 2 219227621 219227621 + Missense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 219227621 219227621 C A SNP C2orf62 ENST00000289388 human ensembl 70_37 +1 known missense c.626 p.T209N 0.996 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C2orf62 HGNC C3 718 genome.wustl.edu 37 19 6694617 6694617 + Missense_Mutation SNP A A C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 6694617 6694617 A C SNP C3 ENST00000245907 human ensembl 70_37 -1 known missense c.2979 p.D993E 0.008 NULL 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 C3 718 genome.wustl.edu 37 19 6694622 6694622 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 6694622 6694622 C G SNP C3 ENST00000245907 human ensembl 70_37 -1 known missense c.2974 p.E992Q 1.000 NULL 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 C6orf62 81688 genome.wustl.edu 37 6 24716531 24716531 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 24716531 24716531 C T SNP C6orf62 ENST00000378119 human ensembl 70_37 -1 known missense c.151 p.E51K 1.000 NULL NULL - no_errors C6orf62 HGNC CCDC180 100499483 genome.wustl.edu 37 9 100076947 100076947 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 100076947 100076947 G A SNP C9orf174 ENST00000375202 human ensembl 70_37 +1 known silent c.768 p.R256 0.468 NULL NULL - no_errors C9orf174 HGNC C9orf3 84909 genome.wustl.edu 37 9 97767884 97767884 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 97767884 97767884 G A SNP C9orf3 ENST00000375315 human ensembl 70_37 +1 known missense c.2101 p.E701K 0.051 pfam_Peptidase_M1_C,superfamily_ARM-type_fold pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold - no_errors C9orf3 HGNC C9orf91 203197 genome.wustl.edu 37 9 117379410 117379410 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 117379410 117379410 G C SNP C9orf91 ENST00000471206 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors C9orf91 HGNC CACNA1B 774 genome.wustl.edu 37 9 140946583 140946583 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 140946583 140946583 G C SNP CACNA1B ENST00000371355 human ensembl 70_37 +1 known silent c.3753 p.L1251 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC CACNA1S 779 genome.wustl.edu 37 1 201016290 201016290 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 201016290 201016290 C G SNP CACNA1S ENST00000362061 human ensembl 70_37 -1 known missense c.4621 p.E1541Q 1.000 pfam_VDCC_a1su_IQ pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC CACNB2 783 genome.wustl.edu 37 10 18439857 18439857 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 18439857 18439857 G A SNP CACNB2 ENST00000324631 human ensembl 70_37 +1 known missense c.166 p.D56N 0.999 NULL pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b2su - no_errors CACNB2 HGNC CADM1 23705 genome.wustl.edu 37 11 115088689 115088689 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 115088689 115088689 C G SNP CADM1 ENST00000452722 human ensembl 70_37 -1 known missense c.744 p.Q248H 1.000 pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like - no_errors CADM1 HGNC CALCB 797 genome.wustl.edu 37 11 15098849 15098849 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 15098849 15098849 G C SNP CALCB ENST00000324229 human ensembl 70_37 +1 known missense c.242 p.R81T 1.000 pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Pro-islet_amyloid_polypep pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Procalcitonin_gene-rel_peptide,prints_Pro-islet_amyloid_polypep - no_errors CALCB HGNC CAMK2B 816 genome.wustl.edu 37 7 44259838 44259838 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 44259838 44259838 G A SNP CAMK2B ENST00000395749 human ensembl 70_37 -1 known silent c.1824 p.H608 1.000 pfam_Ca/CaM-dep_prot_kinase-assoc pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CAMK2B HGNC CAMKK2 10645 genome.wustl.edu 37 12 121682976 121682976 + Missense_Mutation SNP T T C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 121682976 121682976 T C SNP CAMKK2 ENST00000324774 human ensembl 70_37 -1 known missense c.1520 p.E507G 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 CAMKK2 HGNC CAMTA1 23261 genome.wustl.edu 37 1 7798111 7798111 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 7798111 7798111 G A SNP CAMTA1 ENST00000303635 human ensembl 70_37 +1 known missense c.3751 p.E1251K 1.000 NULL pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC CAPN1 823 genome.wustl.edu 37 11 64950385 64950385 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 64950385 64950385 G A SNP CAPN1 ENST00000279247 human ensembl 70_37 +1 known silent c.213 p.K71 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 CASKIN2 57513 genome.wustl.edu 37 17 73499965 73499965 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 73499965 73499965 C T SNP CASKIN2 ENST00000321617 human ensembl 70_37 -1 known missense c.1546 p.D516N 0.998 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN2 HGNC CATSPER2P1 440278 genome.wustl.edu 37 15 44028625 44028625 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 44028625 44028625 C G SNP CATSPER2P1 ENST00000381680 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CATSPER2P1 HGNC CATSPERB 79820 genome.wustl.edu 37 14 92126271 92126271 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 92126271 92126271 C T SNP CATSPERB ENST00000256343 human ensembl 70_37 -1 known missense c.1342 p.D448N 0.000 superfamily_Neuraminidase superfamily_Neuraminidase - no_errors CATSPERB HGNC CBFA2T3 863 genome.wustl.edu 37 16 88949138 88949138 + Silent SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 88949138 88949138 G T SNP CBFA2T3 ENST00000268679 human ensembl 70_37 -1 known silent c.1149 p.I383 0.140 pfam_NHR2 pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16 - no_errors CBFA2T3 HGNC CCAR1 55749 genome.wustl.edu 37 10 70531119 70531119 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 70531119 70531119 G A SNP CCAR1 ENST00000265872 human ensembl 70_37 +1 known missense c.2455 p.D819N 1.000 NULL pfam_SAP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors CCAR1 HGNC CCAR1 55749 genome.wustl.edu 37 10 70531125 70531125 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 70531125 70531125 G A SNP CCAR1 ENST00000265872 human ensembl 70_37 +1 known missense c.2461 p.E821K 1.000 NULL pfam_SAP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors CCAR1 HGNC CCDC104 112942 genome.wustl.edu 37 2 55762944 55762944 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 55762944 55762944 C T SNP CCDC104 ENST00000403007 human ensembl 70_37 +1 putative silent c.582 p.L194 0.009 NULL pfam_ARF-like_2-bdp_dom - no_errors CCDC104 HGNC CCDC159 126075 genome.wustl.edu 37 19 11464470 11464470 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 11464470 11464470 C G SNP CCDC159 ENST00000458408 human ensembl 70_37 +1 known missense c.692 p.S231C 0.987 NULL NULL - no_errors CCDC159 HGNC CCDC168 643677 genome.wustl.edu 37 13 103386923 103386924 + Frame_Shift_Ins INS - - T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 13 103386923 103386924 - T INS CCDC168 ENST00000322527 human ensembl 70_37 -1 known frame_shift_ins c.2237_2236 p.I746fs 0.000:0.005 NULL NULL - no_errors CCDC168 HGNC CCDC18 343099 genome.wustl.edu 37 1 93672937 93672937 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 93672937 93672937 G T SNP CCDC18 ENST00000557479 human ensembl 70_37 +1 known missense c.1545 p.K515N 0.669 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC CCDC19 25790 genome.wustl.edu 37 1 159857691 159857691 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 159857691 159857691 G A SNP CCDC19 ENST00000368099 human ensembl 70_37 -1 known silent c.528 p.L176 0.970 NULL NULL - no_errors CCDC19 HGNC CCDC66 285331 genome.wustl.edu 37 3 56627714 56627714 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 56627714 56627714 G A SNP CCDC66 ENST00000394672 human ensembl 70_37 +1 known missense c.1264 p.E422K 0.038 NULL NULL - no_errors CCDC66 HGNC CCDC88B 283234 genome.wustl.edu 37 11 64119016 64119016 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 64119016 64119016 G C SNP CCDC88B ENST00000356786 human ensembl 70_37 +1 known silent c.3027 p.G1009 0.723 NULL pfam_HOOK - no_errors CCDC88B HGNC CCNF 899 genome.wustl.edu 37 16 2487306 2487306 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 2487306 2487306 G C SNP CCNF ENST00000397066 human ensembl 70_37 +1 known missense c.523 p.E175Q 1.000 NULL pfam_Cyclin_N,pfam_Cyclin_C,pfam_F-box_dom_cyclin-like,superfamily_Cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors CCNF HGNC CCNG2 901 genome.wustl.edu 37 4 78082672 78082672 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 78082672 78082672 G A SNP CCNG2 ENST00000316355 human ensembl 70_37 +1 known silent c.567 p.L189 0.998 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNG2 HGNC CCR3 1232 genome.wustl.edu 37 3 46306660 46306660 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 46306660 46306660 C T SNP CCR3 ENST00000545097 human ensembl 70_37 +1 known missense c.74 p.S25L 0.000 prints_Chemokine_CCR1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR3,prints_Chemokine_CCR1,prints_P2_purnocptor - no_errors CCR3 HGNC CCT3 7203 genome.wustl.edu 37 1 156278946 156278946 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 156278946 156278946 G A SNP CCT3 ENST00000465714 human ensembl 70_37 -1 known rna NULL NULL 0.061 - - - no_errors CCT3 HGNC CCZ1 51622 genome.wustl.edu 37 7 5963465 5963465 + Splice_Site SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 5963465 5963465 G A SNP CCZ1 ENST00000325974 human ensembl 70_37 +1 known splice_site c.1266-1 e14-1 1.000 - - - no_errors CCZ1 HGNC CCZ1 51622 genome.wustl.edu 37 7 5963473 5963473 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 5963473 5963473 G A SNP CCZ1 ENST00000325974 human ensembl 70_37 +1 known missense c.1273 p.E425K 1.000 pfam_DUF1712_fun pfam_DUF1712_fun - no_errors CCZ1 HGNC CD37 951 genome.wustl.edu 37 19 49838725 49838725 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 49838725 49838725 C G SNP CD37 ENST00000596426 human ensembl 70_37 +1 known rna NULL NULL 0.026 - - - no_errors CD37 HGNC CD99L2 83692 genome.wustl.edu 37 X 149963687 149963687 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 149963687 149963687 C T SNP CD99L2 ENST00000370377 human ensembl 70_37 -1 known missense c.422 p.G141E 0.655 pfam_CD99L2 pfam_CD99L2 - no_errors CD99L2 HGNC CDC20B 166979 genome.wustl.edu 37 5 54420851 54420851 + Nonsense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 54420851 54420851 G C SNP CDC20B ENST00000296733 human ensembl 70_37 -1 known nonsense c.995 p.S332* 0.995 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 CDC20B HGNC CDCA2 157313 genome.wustl.edu 37 8 25327454 25327454 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 25327454 25327454 G A SNP CDCA2 ENST00000330560 human ensembl 70_37 +1 known missense c.778 p.E260K 0.008 NULL NULL - no_errors CDCA2 HGNC CDH1 999 genome.wustl.edu 37 16 68867208 68867208 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 68867208 68867208 G A SNP CDH1 ENST00000261769 human ensembl 70_37 +1 known missense c.2455 p.D819N 0.998 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC CDH13 1012 genome.wustl.edu 37 16 83816988 83816988 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 83816988 83816988 G A SNP CDH13 ENST00000566620 human ensembl 70_37 +1 known missense c.2045 p.C682Y 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH13 HGNC CDH22 64405 genome.wustl.edu 37 20 44841750 44841750 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 44841750 44841750 C T SNP CDH22 ENST00000372262 human ensembl 70_37 -1 known missense c.916 p.V306M 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH22 HGNC CELSR1 9620 genome.wustl.edu 37 22 46760469 46760469 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 46760469 46760469 C T SNP CELSR1 ENST00000262738 human ensembl 70_37 -1 known missense c.8719 p.D2907N 0.055 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC CFLAR-AS1 65072 genome.wustl.edu 37 2 202013792 202013792 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 202013792 202013792 C G SNP CFLAR-AS1 ENST00000595372 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors CFLAR-AS1 HGNC CFLAR-AS1 65072 genome.wustl.edu 37 2 202014626 202014626 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 202014626 202014626 C T SNP CFLAR-AS1 ENST00000593896 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CFLAR-AS1 HGNC CHD8 57680 genome.wustl.edu 37 14 21868389 21868389 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 21868389 21868389 C G SNP CHD8 ENST00000399982 human ensembl 70_37 -1 known missense c.4648 p.D1550H 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 CHD8 57680 genome.wustl.edu 37 14 21899210 21899210 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 21899210 21899210 C T SNP CHD8 ENST00000399982 human ensembl 70_37 -1 known missense c.593 p.G198E 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 CHFR 55743 genome.wustl.edu 37 12 133446252 133446252 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 133446252 133446252 G A SNP CHFR ENST00000266880 human ensembl 70_37 -1 known missense c.572 p.S191F 0.997 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pfscan_FHA_dom,pfscan_Znf_RING - no_errors CHFR HGNC CHRNA1 1134 genome.wustl.edu 37 2 175613442 175613442 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 175613442 175613442 C T SNP CHRNA1 ENST00000261007 human ensembl 70_37 -1 known missense c.1183 p.D395N 1.000 superfamily_Neurotrans-gated_channel_TM pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNA1 HGNC CIC 23152 genome.wustl.edu 37 19 42797347 42797347 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 42797347 42797347 G A SNP CIC ENST00000160740 human ensembl 70_37 +1 known missense c.3709 p.E1237K 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors CIC HGNC CKAP4 10970 genome.wustl.edu 37 12 106633846 106633846 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 106633846 106633846 G A SNP CKAP4 ENST00000378026 human ensembl 70_37 -1 known silent c.765 p.F255 1.000 NULL superfamily_Tscrpt_elong_fac_GreA/B_N,superfamily_STAT_TF_coiled-coil - no_errors CKAP4 HGNC CLDN11 5010 genome.wustl.edu 37 3 170425951 170425951 + RNA SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 170425951 170425951 G T SNP CLDN11 ENST00000480067 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CLDN11 HGNC CLK2 1196 genome.wustl.edu 37 1 155235704 155235704 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 155235704 155235704 C T SNP CLK2 ENST00000368361 human ensembl 70_37 -1 known missense c.880 p.E294K 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 CLK2 HGNC CMTM2 146225 genome.wustl.edu 37 16 66620961 66620961 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 66620961 66620961 G C SNP CMTM2 ENST00000268595 human ensembl 70_37 +1 known missense c.506 p.R169T 0.000 NULL NULL - no_errors CMTM2 HGNC CNGA4 1262 genome.wustl.edu 37 11 6265351 6265351 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 6265351 6265351 G C SNP CNGA4 ENST00000379936 human ensembl 70_37 +1 known silent c.1440 p.V480 1.000 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 CNKSR1 10256 genome.wustl.edu 37 1 26513963 26513963 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 26513963 26513963 G A SNP CNKSR1 ENST00000374253 human ensembl 70_37 +1 known missense c.1465 p.D489N 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR1 HGNC CNNM2 54805 genome.wustl.edu 37 10 104835960 104835960 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 104835960 104835960 C T SNP CNNM2 ENST00000457502 human ensembl 70_37 +1 known missense c.2354 p.S785F 0.798 NULL pfam_DUF21,superfamily_cNMP-bd-like - no_errors CNNM2 HGNC CNNM4 26504 genome.wustl.edu 37 2 97475114 97475114 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 97475114 97475114 C G SNP CNNM4 ENST00000540067 human ensembl 70_37 +1 known nonsense c.737 p.S246* 1.000 NULL superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNNM4 HGNC CNPY4 245812 genome.wustl.edu 37 7 99722592 99722592 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 99722592 99722592 C T SNP CNPY4 ENST00000480692 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CNPY4 HGNC CNPY4 245812 genome.wustl.edu 37 7 99722651 99722651 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 99722651 99722651 C T SNP CNPY4 ENST00000480692 human ensembl 70_37 +1 known rna NULL NULL 0.080 - - - no_errors CNPY4 HGNC CNTN4 152330 genome.wustl.edu 37 3 3080685 3080685 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 3080685 3080685 G A SNP CNTN4 ENST00000397461 human ensembl 70_37 +1 known missense c.2161 p.E721K 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 CNTN4 HGNC CNTN6 27255 genome.wustl.edu 37 3 1444154 1444154 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 1444154 1444154 G A SNP CNTN6 ENST00000350110 human ensembl 70_37 +1 known silent c.2970 p.R990 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN6 HGNC COL5A1 1289 genome.wustl.edu 37 9 137690295 137690295 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 137690295 137690295 G C SNP COL5A1 ENST00000371817 human ensembl 70_37 +1 known missense c.2940 p.Q980H 1.000 NULL 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 COL5A1 HGNC COL6A2 1292 genome.wustl.edu 37 21 47532338 47532338 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 21 47532338 47532338 C G SNP COL6A2 ENST00000300527 human ensembl 70_37 +1 known silent c.561 p.L187 0.966 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC COL8A2 1296 genome.wustl.edu 37 1 36563499 36563499 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 36563499 36563499 C T SNP COL8A2 ENST00000303143 human ensembl 70_37 -1 known missense c.1783 p.D595N 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A2 HGNC COL8A2 1296 genome.wustl.edu 37 1 36564455 36564455 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 36564455 36564455 C G SNP COL8A2 ENST00000303143 human ensembl 70_37 -1 known missense c.827 p.G276A 1.000 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A2 HGNC COPE 11316 genome.wustl.edu 37 19 19030098 19030098 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 19030098 19030098 G A SNP COPE ENST00000262812 human ensembl 70_37 -1 known silent c.60 p.F20 1.000 pfam_Coatomer_esu,pirsf_Coatomer_esu pfam_Coatomer_esu,pirsf_Coatomer_esu - no_errors COPE HGNC COX5B 1329 genome.wustl.edu 37 2 98262630 98262630 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 98262630 98262630 G C SNP COX5B ENST00000258424 human ensembl 70_37 +1 known silent c.81 p.A27 0.001 NULL pfam_Cyt_c_oxidase_su5b - no_errors COX5B HGNC CPA4 51200 genome.wustl.edu 37 7 129944388 129944388 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 129944388 129944388 C T SNP CPA4 ENST00000222482 human ensembl 70_37 +1 known missense c.455 p.S152L 0.002 pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA4 HGNC CPAMD8 27151 genome.wustl.edu 37 19 17088210 17088210 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 17088210 17088210 G A SNP CPAMD8 ENST00000443236 human ensembl 70_37 -1 known nonsense c.1867 p.Q623* 1.000 pfam_A2M_N_2 pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal - no_errors CPAMD8 HGNC CRAMP1L 57585 genome.wustl.edu 37 16 1718140 1718140 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 1718140 1718140 G A SNP CRAMP1L ENST00000293925 human ensembl 70_37 +1 known missense c.3280 p.A1094T 0.560 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors CRAMP1L HGNC CRB2 286204 genome.wustl.edu 37 9 126132812 126132812 + Nonsense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 126132812 126132812 C T SNP CRB2 ENST00000373631 human ensembl 70_37 +1 known nonsense c.1480 p.Q494* 0.786 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 CREB1 1385 genome.wustl.edu 37 2 208462088 208462088 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 208462088 208462088 G A SNP CREB1 ENST00000494983 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CREB1 HGNC CRHR1-IT1 147081 genome.wustl.edu 37 17 43713847 43713847 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 43713847 43713847 C T SNP CRHR1-IT1 ENST00000455565 human ensembl 70_37 +1 known rna NULL NULL 0.104 - - - no_errors CRHR1-IT1 HGNC CROT 54677 genome.wustl.edu 37 7 87022372 87022372 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 87022372 87022372 C G SNP CROT ENST00000331536 human ensembl 70_37 +1 known missense c.1707 p.I569M 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CROT HGNC CSMD1 64478 genome.wustl.edu 37 8 2836248 2836248 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 2836248 2836248 C G SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known missense c.8455 p.E2819Q 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 CSMD1 HGNC CST6 1474 genome.wustl.edu 37 11 65780823 65780823 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 65780823 65780823 C T SNP CST6 ENST00000312134 human ensembl 70_37 +1 known silent c.402 p.P134 0.998 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST6 HGNC CSTF3 1479 genome.wustl.edu 37 11 33163446 33163446 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 33163446 33163446 G C SNP CSTF3 ENST00000323959 human ensembl 70_37 -1 known silent c.114 p.L38 1.000 NULL pfam_Suf,smart_HAT - no_errors CSTF3 HGNC CTTNBP2 83992 genome.wustl.edu 37 7 117432046 117432046 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 117432046 117432046 G A SNP CTTNBP2 ENST00000160373 human ensembl 70_37 -1 known missense c.1204 p.P402S 0.752 NULL pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC CUBN 8029 genome.wustl.edu 37 10 17126293 17126293 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 17126293 17126293 C T SNP CUBN ENST00000377833 human ensembl 70_37 -1 known missense c.2278 p.D760N 0.277 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC CUL1 8454 genome.wustl.edu 37 7 148457536 148457536 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 148457536 148457536 G C SNP CUL1 ENST00000325222 human ensembl 70_37 +1 known missense c.737 p.R246T 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom 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 CUL1 HGNC CUL3 8452 genome.wustl.edu 37 2 225365091 225365091 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 225365091 225365091 C T SNP CUL3 ENST00000264414 human ensembl 70_37 -1 known silent c.1599 p.E533 1.000 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL3 HGNC CXCL16 58191 genome.wustl.edu 37 17 4642687 4642687 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 4642687 4642687 G C SNP CXCL16 ENST00000293778 human ensembl 70_37 -1 known missense c.5 p.S2C 0.000 NULL NULL - no_errors CXCL16 HGNC CXCR2P1 3580 genome.wustl.edu 37 2 218924813 218924813 + RNA SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 218924813 218924813 G T SNP CXCR2P1 ENST00000439871 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors CXCR2P1 HGNC CYBB 1536 genome.wustl.edu 37 X 37642818 37642818 + Nonsense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 37642818 37642818 C T SNP CYBB ENST00000378588 human ensembl 70_37 +1 known nonsense c.217 p.R73* 1.000 pfam_Fe3_Rdtase_TM_dom pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors CYBB HGNC CYHR1 50626 genome.wustl.edu 37 8 145690218 145690218 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 145690218 145690218 G C SNP CYHR1 ENST00000438911 human ensembl 70_37 -1 known missense c.67 p.L23V 1.000 NULL superfamily_TRAF-like,pfscan_Znf_TRAF - no_errors CYHR1 HGNC CYP2E1 1571 genome.wustl.edu 37 10 135352373 135352373 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 135352373 135352373 C G SNP CYP2E1 ENST00000252945 human ensembl 70_37 +1 known missense c.1387 p.L463V 0.230 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2E1 HGNC CYP2F1 1572 genome.wustl.edu 37 19 41627918 41627918 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 41627918 41627918 C T SNP CYP2F1 ENST00000331105 human ensembl 70_37 +1 known silent c.702 p.I234 0.195 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2F1 HGNC CYP2F1 1572 genome.wustl.edu 37 19 41627930 41627930 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 41627930 41627930 C T SNP CYP2F1 ENST00000331105 human ensembl 70_37 +1 known silent c.714 p.F238 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2F1 HGNC CYP4B1 1580 genome.wustl.edu 37 1 47278271 47278271 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 47278271 47278271 C T SNP CYP4B1 ENST00000371923 human ensembl 70_37 +1 known silent c.471 p.F157 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4B1 HGNC CYTH2 9266 genome.wustl.edu 37 19 48981704 48981704 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 48981704 48981704 G C SNP CYTH2 ENST00000427476 human ensembl 70_37 +1 known missense c.970 p.E324Q 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 CYTH2 HGNC DAAM2 23500 genome.wustl.edu 37 6 39847006 39847006 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 39847006 39847006 C T SNP DAAM2 ENST00000274867 human ensembl 70_37 +1 known missense c.1598 p.S533F 0.950 NULL pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM2 HGNC DAAM2 23500 genome.wustl.edu 37 6 39856471 39856471 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 39856471 39856471 G A SNP DAAM2 ENST00000274867 human ensembl 70_37 +1 known missense c.2077 p.E693K 1.000 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,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM2 HGNC DACH2 117154 genome.wustl.edu 37 X 85404062 85404062 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 85404062 85404062 C G SNP DACH2 ENST00000373125 human ensembl 70_37 +1 known silent c.438 p.L146 1.000 pfam_Transform_Ski,superfamily_DNA-bd_dom_put pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC DAP3 7818 genome.wustl.edu 37 1 155701230 155701230 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 155701230 155701230 C T SNP DAP3 ENST00000497433 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DAP3 HGNC DBNDD1 79007 genome.wustl.edu 37 16 90075276 90075276 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 90075276 90075276 C T SNP DBNDD1 ENST00000568838 human ensembl 70_37 -1 known missense c.595 p.E199K 1.000 pfam_Dysbindin pfam_Dysbindin - no_errors DBNDD1 HGNC DDO 8528 genome.wustl.edu 37 6 110714274 110714274 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 110714274 110714274 G A SNP DDO ENST00000368924 human ensembl 70_37 -1 known silent c.814 p.L272 0.825 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors DDO HGNC DDX23 9416 genome.wustl.edu 37 12 49224420 49224420 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 49224420 49224420 G A SNP DDX23 ENST00000308025 human ensembl 70_37 -1 known silent c.2295 p.I765 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 DDX23 HGNC DDX26B 203522 genome.wustl.edu 37 X 134713952 134713952 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 134713952 134713952 G C SNP DDX26B ENST00000370752 human ensembl 70_37 +1 known missense c.2248 p.D750H 0.818 NULL pfscan_VWF_A - no_errors DDX26B HGNC DDX28 55794 genome.wustl.edu 37 16 68057070 68057070 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 68057070 68057070 G C SNP DDX28 ENST00000332395 human ensembl 70_37 -1 known silent c.36 p.L12 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX28 HGNC DDX41 51428 genome.wustl.edu 37 5 176942307 176942307 + Nonstop_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 176942307 176942307 C G SNP DDX41 ENST00000509576 human ensembl 70_37 -1 known nonstop c.605 p.*202S 0.000 NULL NULL - no_errors DDX41 HGNC DGAT2L6 347516 genome.wustl.edu 37 X 69420191 69420191 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 69420191 69420191 C G SNP DGAT2L6 ENST00000333026 human ensembl 70_37 +1 known missense c.354 p.I118M 1.000 pfam_DAGAT pfam_DAGAT - no_errors DGAT2L6 HGNC DGCR14 8220 genome.wustl.edu 37 22 19121936 19121936 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 19121936 19121936 C T SNP DGCR14 ENST00000252137 human ensembl 70_37 -1 known missense c.1204 p.V402M 0.999 NULL pfam_Nuclear_protein_DGCR14 - no_errors DGCR14 HGNC DGCR14 8220 genome.wustl.edu 37 22 19122626 19122626 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 19122626 19122626 C T SNP DGCR14 ENST00000252137 human ensembl 70_37 -1 known silent c.1098 p.K366 1.000 pfam_Nuclear_protein_DGCR14 pfam_Nuclear_protein_DGCR14 - no_errors DGCR14 HGNC DGCR14 8220 genome.wustl.edu 37 22 19122634 19122634 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 19122634 19122634 C T SNP DGCR14 ENST00000252137 human ensembl 70_37 -1 known missense c.1090 p.A364T 0.999 pfam_Nuclear_protein_DGCR14 pfam_Nuclear_protein_DGCR14 - no_errors DGCR14 HGNC DGKD 8527 genome.wustl.edu 37 2 234294806 234294806 + RNA DEL T T - TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 234294806 234294806 T - DEL DGKD ENST00000489613 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors DGKD HGNC DGUOK 1716 genome.wustl.edu 37 2 74173878 74173878 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 74173878 74173878 G A SNP DGUOK ENST00000418996 human ensembl 70_37 +1 known missense c.175 p.G59R 0.998 NULL NULL - no_errors DGUOK HGNC DHCR24 1718 genome.wustl.edu 37 1 55352682 55352682 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 55352682 55352682 G C SNP DHCR24 ENST00000371269 human ensembl 70_37 -1 known silent c.111 p.L37 1.000 superfamily_FAD-bd_2 pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2 - no_errors DHCR24 HGNC DHPS 1725 genome.wustl.edu 37 19 12792434 12792434 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 12792434 12792434 G C SNP DHPS ENST00000210060 human ensembl 70_37 -1 known missense c.147 p.F49L 0.838 pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase - no_errors DHPS HGNC DHX29 54505 genome.wustl.edu 37 5 54581210 54581210 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 54581210 54581210 C T SNP DHX29 ENST00000251636 human ensembl 70_37 -1 known missense c.1267 p.V423I 0.967 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX29 HGNC DHX30 22907 genome.wustl.edu 37 3 47889784 47889784 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 47889784 47889784 G C SNP DHX30 ENST00000445061 human ensembl 70_37 +1 known missense c.2401 p.E801Q 1.000 pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX30 HGNC DKK3 27122 genome.wustl.edu 37 11 11989992 11989992 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 11989992 11989992 G A SNP DKK3 ENST00000326932 human ensembl 70_37 -1 known nonsense c.478 p.Q160* 1.000 pfam_Dickkopf_N pfam_Dickkopf_N - no_errors DKK3 HGNC DLG1 1739 genome.wustl.edu 37 3 196807888 196807888 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 196807888 196807888 G A SNP DLG1 ENST00000493937 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors DLG1 HGNC DLG2 1740 genome.wustl.edu 37 11 83877955 83877956 + RNA INS - - T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 83877955 83877956 - T INS DLG2 ENST00000524941 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors DLG2 HGNC DLST 1743 genome.wustl.edu 37 14 75348641 75348641 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 75348641 75348641 C T SNP DLST ENST00000555190 human ensembl 70_37 +1 known rna NULL NULL 0.936 - - - no_errors DLST HGNC DLX4 1748 genome.wustl.edu 37 17 48050454 48050454 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 48050454 48050454 C T SNP DLX4 ENST00000240306 human ensembl 70_37 +1 known silent c.301 p.L101 0.343 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX4 HGNC DMD 1756 genome.wustl.edu 37 X 33229516 33229516 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 33229516 33229516 G C SNP DMD ENST00000463609 human ensembl 70_37 -1 known rna NULL NULL 0.707 - - - no_errors DMD HGNC DNAH10 196385 genome.wustl.edu 37 12 124272480 124272480 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 124272480 124272480 C T SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known silent c.1368 p.D456 0.146 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC DNAH11 8701 genome.wustl.edu 37 7 21901552 21901552 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 21901552 21901552 G C SNP DNAH11 ENST00000328843 human ensembl 70_37 +1 known missense c.11305 p.E3769Q 1.000 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 DNAH11 HGNC DNAH14 127602 genome.wustl.edu 37 1 225393772 225393772 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 225393772 225393772 C G SNP DNAH14 ENST00000430092 human ensembl 70_37 +1 known missense c.6011 p.A2004G 1.000 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase - no_errors DNAH14 HGNC DNAH14 127602 genome.wustl.edu 37 1 225394691 225394691 + Nonsense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 225394691 225394691 G T SNP DNAH14 ENST00000430092 human ensembl 70_37 +1 known nonsense c.6142 p.E2048* 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase - no_errors DNAH14 HGNC DNAH14 127602 genome.wustl.edu 37 1 225394807 225394807 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 225394807 225394807 G A SNP DNAH14 ENST00000430092 human ensembl 70_37 +1 known silent c.6258 p.R2086 0.554 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase - no_errors DNAH14 HGNC DNAH14 127602 genome.wustl.edu 37 1 225394916 225394916 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 225394916 225394916 G C SNP DNAH14 ENST00000430092 human ensembl 70_37 +1 known missense c.6367 p.E2123Q 0.058 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase - no_errors DNAH14 HGNC DNAH17 8632 genome.wustl.edu 37 17 76430271 76430271 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 76430271 76430271 C G SNP DNAH17 ENST00000389840 human ensembl 70_37 -1 known missense c.12046 p.E4016Q 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC DNAH3 55567 genome.wustl.edu 37 16 21063145 21063145 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 21063145 21063145 G A SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known silent c.4084 p.L1362 0.983 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC DNAH6 1768 genome.wustl.edu 37 2 84851722 84851722 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 84851722 84851722 G C SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known missense c.4331 p.R1444T 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC DNAH6 1768 genome.wustl.edu 37 2 84934134 84934134 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 84934134 84934134 G C SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known missense c.8842 p.E2948Q 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC DNAJB7 150353 genome.wustl.edu 37 22 41257347 41257347 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 41257347 41257347 C G SNP DNAJB7 ENST00000307221 human ensembl 70_37 -1 known missense c.652 p.E218Q 0.000 NULL pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_ConA-like_lec_gl_sf,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB7 HGNC DNAJC13 23317 genome.wustl.edu 37 3 132211367 132211367 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 132211367 132211367 C G SNP DNAJC13 ENST00000260818 human ensembl 70_37 +1 known missense c.3733 p.P1245A 1.000 superfamily_ARM-type_fold pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N - no_errors DNAJC13 HGNC DNAJC14 85406 genome.wustl.edu 37 12 56222284 56222284 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 56222284 56222284 G A SNP DNAJC14 ENST00000317269 human ensembl 70_37 -1 known silent c.159 p.L53 0.986 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC14 HGNC DNAJC14 85406 genome.wustl.edu 37 12 56222339 56222339 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 56222339 56222339 G A SNP DNAJC14 ENST00000317269 human ensembl 70_37 -1 known missense c.104 p.S35L 1.000 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC14 HGNC DNAJC22 79962 genome.wustl.edu 37 12 49743276 49743276 + Silent SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 49743276 49743276 C A SNP DNAJC22 ENST00000395069 human ensembl 70_37 +1 known silent c.621 p.T207 0.216 NULL pfam_DnaJ_N,pfam_TM2,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC22 HGNC DNALI1 7802 genome.wustl.edu 37 1 38027339 38027339 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 38027339 38027339 G C SNP DNALI1 ENST00000497858 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors DNALI1 HGNC DOCK11 139818 genome.wustl.edu 37 X 117718726 117718726 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 117718726 117718726 C G SNP DOCK11 ENST00000276202 human ensembl 70_37 +1 known missense c.1624 p.L542V 0.909 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC DOPEY2 9980 genome.wustl.edu 37 21 37617942 37617942 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 21 37617942 37617942 G A SNP DOPEY2 ENST00000399151 human ensembl 70_37 +1 known missense c.3664 p.E1222K 0.991 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC DST 667 genome.wustl.edu 37 6 56368830 56368830 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 56368830 56368830 G A SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.19438 p.L6480F 1.000 pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC DVL1 1855 genome.wustl.edu 37 1 1273752 1273752 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 1273752 1273752 C T SNP DVL1 ENST00000378888 human ensembl 70_37 -1 known silent c.1404 p.R468 0.681 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam - no_errors DVL1 HGNC E2F5 1875 genome.wustl.edu 37 8 86127137 86127137 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 86127137 86127137 G A SNP E2F5 ENST00000519128 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors E2F5 HGNC ECT2 1894 genome.wustl.edu 37 3 172486809 172486809 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 172486809 172486809 C G SNP ECT2 ENST00000427830 human ensembl 70_37 +1 known missense c.1211 p.S404C 1.000 superfamily_DH-domain pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain - no_errors ECT2 HGNC EDEM2 55741 genome.wustl.edu 37 20 33734979 33734979 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 33734979 33734979 G A SNP EDEM2 ENST00000374492 human ensembl 70_37 -1 known missense c.83 p.S28F 1.000 superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM2 HGNC EDN1 1906 genome.wustl.edu 37 6 12294300 12294300 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 12294300 12294300 G A SNP EDN1 ENST00000379375 human ensembl 70_37 +1 known nonsense c.360 p.W120* 1.000 smart_Endothln-like_toxin pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D - no_errors EDN1 HGNC EDNRA 1909 genome.wustl.edu 37 4 148463720 148463720 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 148463720 148463720 C G SNP EDNRA ENST00000324300 human ensembl 70_37 +1 known missense c.1234 p.Q412E 1.000 prints_ETA_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_ETA_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn - no_errors EDNRA HGNC EFNA1 1942 genome.wustl.edu 37 1 155100407 155100407 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 155100407 155100407 C G SNP EFNA1 ENST00000469878 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors EFNA1 HGNC EHMT2 10919 genome.wustl.edu 37 6 31850709 31850709 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 31850709 31850709 C G SNP EHMT2 ENST00000395728 human ensembl 70_37 -1 known missense c.3243 p.W1081C 1.000 pfam_Pre-SET_dom,pfscan_Pre-SET_dom 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 EHMT2 HGNC EIF2AK3 9451 genome.wustl.edu 37 2 88861854 88861854 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 88861854 88861854 G C SNP EIF2AK3 ENST00000303236 human ensembl 70_37 -1 known missense c.3040 p.L1014V 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,superfamily_Quinonprotein_ADH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EIF2AK3 HGNC EIF3L 51386 genome.wustl.edu 37 22 38259338 38259338 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 38259338 38259338 G A SNP EIF3L ENST00000425539 human ensembl 70_37 +1 known missense c.694 p.E232K 1.000 pfam_TIF3_suL pfam_TIF3_suL - no_errors EIF3L HGNC EIF5B 9669 genome.wustl.edu 37 2 99999378 99999378 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 99999378 99999378 C T SNP EIF5B ENST00000289371 human ensembl 70_37 +1 known silent c.2265 p.L755 0.954 pfam_EF_GTP-bd_dom,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ELL 8178 genome.wustl.edu 37 19 18557273 18557273 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 18557273 18557273 G A SNP ELL ENST00000262809 human ensembl 70_37 -1 known missense c.1550 p.S517F 0.967 pfam_Occludin_RNApol2_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL HGNC EMP1 2012 genome.wustl.edu 37 12 13366640 13366640 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 13366640 13366640 C G SNP EMP1 ENST00000256951 human ensembl 70_37 +1 known missense c.201 p.F67L 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20 pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20,prints_EMP_1 - no_errors EMP1 HGNC EMP1 2012 genome.wustl.edu 37 12 13366700 13366700 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 13366700 13366700 C G SNP EMP1 ENST00000256951 human ensembl 70_37 +1 known missense c.261 p.F87L 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20,prints_EMP_1 - no_errors EMP1 HGNC EMP1 2012 genome.wustl.edu 37 12 13366732 13366732 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 13366732 13366732 C G SNP EMP1 ENST00000256951 human ensembl 70_37 +1 known nonsense c.293 p.S98* 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20 pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20,prints_EMP_1 - no_errors EMP1 HGNC ENPP1 5167 genome.wustl.edu 37 6 132172328 132172328 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 132172328 132172328 G A SNP ENPP1 ENST00000360971 human ensembl 70_37 +1 known silent c.477 p.L159 0.124 pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom 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 ENSG00000187185 0 genome.wustl.edu 37 16 57850193 57850193 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 57850193 57850193 G A SNP ENSG00000187185 ENST00000335616 human ensembl 70_37 +1 known missense c.112 p.E38K 0.000 NULL NULL - no_errors CTD-2600O9.1 Clone_based_vega_gene ENSG00000207849 0 genome.wustl.edu 37 4 136292796 136292796 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 136292796 136292796 C G SNP ENSG00000207849 ENST00000385114 human ensembl 70_37 -1 novel rna NULL NULL 0.949 - - - no_errors AC108867.1 Clone_based_ensembl_gene ENSG00000214888 0 genome.wustl.edu 37 9 90473998 90473998 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 90473998 90473998 G A SNP ENSG00000214888 ENST00000399186 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors XXyac-YM21GA2.7 Clone_based_vega_gene ENSG00000228274 0 genome.wustl.edu 37 22 39064205 39064205 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 39064205 39064205 G C SNP ENSG00000228274 ENST00000422408 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP3-508I15.9 Clone_based_vega_gene ENSG00000228393 0 genome.wustl.edu 37 7 104653477 104653477 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 104653477 104653477 C T SNP ENSG00000228393 ENST00000450686 human ensembl 70_37 -1 known rna NULL NULL 0.893 - - - no_errors RP11-325F22.3 Clone_based_vega_gene ENSG00000230440 0 genome.wustl.edu 37 20 26114720 26114720 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 26114720 26114720 G A SNP ENSG00000230440 ENST00000416563 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP13-329D4.3 Clone_based_vega_gene ENSG00000230615 0 genome.wustl.edu 37 1 44569468 44569468 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 44569468 44569468 C G SNP ENSG00000230615 ENST00000434244 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP5-1198O20.4 Clone_based_vega_gene ENSG00000231437 0 genome.wustl.edu 37 1 112539048 112539048 + Splice_Site SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 112539048 112539048 G C SNP ENSG00000231437 ENST00000438293 human ensembl 70_37 +1 putative splice_site c.NULL NULL 0.545 - - - no_errors RP11-88H9.1 Clone_based_vega_gene ENSG00000232633 0 genome.wustl.edu 37 5 112770617 112770617 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 112770617 112770617 C G SNP ENSG00000232633 ENST00000383058 human ensembl 70_37 +1 known rna NULL NULL 0.997 - - - no_errors CTD-2201G3.1 Clone_based_vega_gene ENSG00000235426 0 genome.wustl.edu 37 10 81142152 81142152 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 81142152 81142152 C G SNP ENSG00000235426 ENST00000438554 human ensembl 70_37 +1 known rna NULL NULL 0.979 - - - no_errors RP11-342M3.5 Clone_based_vega_gene ENSG00000235426 0 genome.wustl.edu 37 10 81142232 81142232 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 81142232 81142232 C T SNP ENSG00000235426 ENST00000438554 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-342M3.5 Clone_based_vega_gene ENSG00000237357 0 genome.wustl.edu 37 9 44403103 44403103 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 44403103 44403103 C T SNP ENSG00000237357 ENST00000425309 human ensembl 70_37 +1 known rna NULL NULL 0.185 - - - no_errors RP11-475I24.3 Clone_based_vega_gene ENSG00000239636 0 genome.wustl.edu 37 1 36043012 36043012 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 36043012 36043012 G A SNP ENSG00000239636 ENST00000444348 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors RP4-728D4.2 Clone_based_vega_gene ENSG00000239791 0 genome.wustl.edu 37 16 30594797 30594797 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 30594797 30594797 C T SNP ENSG00000239791 ENST00000492040 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC002310.7 Clone_based_vega_gene ENSG00000242687 0 genome.wustl.edu 37 7 98633342 98633342 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 98633342 98633342 G A SNP ENSG00000242687 ENST00000360902 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors AC004893.11 Clone_based_vega_gene ENSG00000244681 0 genome.wustl.edu 37 3 95374279 95374279 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 95374279 95374279 C G SNP ENSG00000244681 ENST00000494840 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-219E24.1 Clone_based_vega_gene ENSG00000257663 0 genome.wustl.edu 37 12 52470998 52470998 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 52470998 52470998 C G SNP ENSG00000257663 ENST00000550301 human ensembl 70_37 -1 putative rna NULL NULL 0.010 - - - no_errors RP11-1100L3.7 Clone_based_vega_gene ENSG00000258398 0 genome.wustl.edu 37 14 51353299 51353299 + RNA SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 51353299 51353299 C A SNP ENSG00000258398 ENST00000554141 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-218E20.6 Clone_based_vega_gene ENSG00000258727 0 genome.wustl.edu 37 14 24034779 24034779 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 24034779 24034779 C T SNP ENSG00000258727 ENST00000555968 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-66N24.3 Clone_based_vega_gene ENSG00000259660 0 genome.wustl.edu 37 15 102294483 102294483 + RNA SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 102294483 102294483 G T SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 0.578 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000262583 0 genome.wustl.edu 37 16 75538661 75538661 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 75538661 75538661 C T SNP ENSG00000262583 ENST00000571737 human ensembl 70_37 -1 known rna NULL NULL 0.990 - - - no_errors RP11-77K12.5 Clone_based_vega_gene ENSG00000264759 0 genome.wustl.edu 37 X 114938152 114938152 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 114938152 114938152 C T SNP ENSG00000264759 ENST00000580961 human ensembl 70_37 +1 novel rna NULL NULL 1.000 - - - no_errors AC005000.2 Clone_based_ensembl_gene ENSG00000265267 0 genome.wustl.edu 37 2 32048104 32048104 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 32048104 32048104 C T SNP ENSG00000265267 ENST00000580521 human ensembl 70_37 -1 novel rna NULL NULL 0.000 - - - no_errors AL121652.3 Clone_based_ensembl_gene ENSG00000265419 0 genome.wustl.edu 37 6 93354509 93354509 + RNA SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 93354509 93354509 C A SNP ENSG00000265419 ENST00000583000 human ensembl 70_37 +1 novel rna NULL NULL 0.224 - - - no_errors AL359987.1 Clone_based_ensembl_gene ENSG00000266999 0 genome.wustl.edu 37 17 34233433 34233433 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 34233433 34233433 G A SNP ENSG00000266999 ENST00000587132 human ensembl 70_37 -1 known rna NULL NULL 0.012 - - - no_errors AC015849.16 Clone_based_vega_gene ENSG00000268657 0 genome.wustl.edu 37 14 92040885 92040885 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 92040885 92040885 G C SNP ENSG00000268657 ENST00000596306 human ensembl 70_37 -1 known silent c.72 p.L24 0.001 NULL NULL - no_errors AL133373.1 Clone_based_ensembl_gene ENSG00000268657 0 genome.wustl.edu 37 14 92040948 92040948 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 92040948 92040948 G A SNP ENSG00000268657 ENST00000596306 human ensembl 70_37 -1 known silent c.9 p.V3 0.001 NULL NULL - no_errors AL133373.1 Clone_based_ensembl_gene ENY2 56943 genome.wustl.edu 37 8 110346687 110346687 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 110346687 110346687 C G SNP ENY2 ENST00000517756 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ENY2 HGNC EP400 57634 genome.wustl.edu 37 12 132530070 132530070 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 132530070 132530070 G A SNP EP400 ENST00000333577 human ensembl 70_37 +1 known missense c.7099 p.E2367K 1.000 superfamily_Homeodomain-like,pfscan_Myb-like_dom 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 EPHA2 1969 genome.wustl.edu 37 1 16459997 16459997 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 16459997 16459997 G C SNP EPHA2 ENST00000358432 human ensembl 70_37 -1 known missense c.1843 p.R615G 0.926 pirsf_Tyr_kinase_ephrin_rcpt,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 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA2 HGNC EPHA8 2046 genome.wustl.edu 37 1 22920082 22920082 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 22920082 22920082 C G SNP EPHA8 ENST00000166244 human ensembl 70_37 +1 known silent c.1506 p.L502 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA8 HGNC EPHB3 2049 genome.wustl.edu 37 3 184298864 184298864 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 184298864 184298864 C G SNP EPHB3 ENST00000330394 human ensembl 70_37 +1 known silent c.2643 p.L881 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB3 HGNC EPHB4 2050 genome.wustl.edu 37 7 100401185 100401185 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 100401185 100401185 C T SNP EPHB4 ENST00000358173 human ensembl 70_37 -1 known silent c.2862 p.L954 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_SAM pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB4 HGNC EPN1 29924 genome.wustl.edu 37 19 56203149 56203149 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 56203149 56203149 C T SNP EPN1 ENST00000411543 human ensembl 70_37 +1 known silent c.1050 p.F350 0.998 NULL pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN1 HGNC EPOR 2057 genome.wustl.edu 37 19 11491610 11491610 + Silent SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 11491610 11491610 G T SNP EPOR ENST00000222139 human ensembl 70_37 -1 known silent c.777 p.L259 0.831 pirsf_Erythropoietin_rcpt pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Erythropoietin_rcpt,pfscan_Fibronectin_type3 - no_errors EPOR HGNC EPOR 2057 genome.wustl.edu 37 19 11492424 11492424 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 11492424 11492424 G A SNP EPOR ENST00000222139 human ensembl 70_37 -1 known missense c.529 p.H177Y 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Erythropoietin_rcpt,pfscan_Fibronectin_type3 pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Erythropoietin_rcpt,pfscan_Fibronectin_type3 - no_errors EPOR HGNC EPPK1 83481 genome.wustl.edu 37 8 144940827 144940827 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 144940827 144940827 C T SNP EPPK1 ENST00000525985 human ensembl 70_37 -1 known missense c.6595 p.D2199N 0.001 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC EPPK1 83481 genome.wustl.edu 37 8 144943471 144943471 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 144943471 144943471 G A SNP EPPK1 ENST00000525985 human ensembl 70_37 -1 known silent c.3951 p.L1317 0.000 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ERBB2IP 55914 genome.wustl.edu 37 5 65307894 65307894 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 65307894 65307894 G A SNP ERBB2IP ENST00000284037 human ensembl 70_37 +1 known missense c.325 p.E109K 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ERBB3 2065 genome.wustl.edu 37 12 56495457 56495457 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 56495457 56495457 C T SNP ERBB3 ENST00000267101 human ensembl 70_37 +1 known missense c.3647 p.S1216F 0.999 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 ERBB3 2065 genome.wustl.edu 37 12 56495503 56495503 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 56495503 56495503 C T SNP ERBB3 ENST00000267101 human ensembl 70_37 +1 known silent c.3693 p.L1231 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 ERBB3 2065 genome.wustl.edu 37 12 56495513 56495513 + Missense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 56495513 56495513 C A SNP ERBB3 ENST00000267101 human ensembl 70_37 +1 known missense c.3703 p.L1235M 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 ERC2 26059 genome.wustl.edu 37 3 55544664 55544664 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 55544664 55544664 G C SNP ERC2 ENST00000469720 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ERC2 HGNC ERGIC3 51614 genome.wustl.edu 37 20 34136939 34136939 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 34136939 34136939 G A SNP ERGIC3 ENST00000447986 human ensembl 70_37 +1 known missense c.708 p.M236I 0.001 pfam_DUF1692 pfam_DUF1692 - no_errors ERGIC3 HGNC ESPL1 9700 genome.wustl.edu 37 12 53662644 53662644 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 53662644 53662644 C T SNP ESPL1 ENST00000552671 human ensembl 70_37 +1 known missense c.94 p.P32S 0.000 NULL NULL - no_errors ESPL1 HGNC EXT1 2131 genome.wustl.edu 37 8 118825165 118825165 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 118825165 118825165 G A SNP EXT1 ENST00000378204 human ensembl 70_37 -1 known silent c.1668 p.I556 0.084 pfam_HexNAc_Trfase_a pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT1 HGNC EYS 346007 genome.wustl.edu 37 6 64498954 64498954 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 64498954 64498954 C T SNP EYS ENST00000370616 human ensembl 70_37 -1 known silent c.7575 p.L2525 0.999 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 40879727 40879727 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 40879727 40879727 C T SNP EZH1 ENST00000428826 human ensembl 70_37 -1 known missense c.172 p.E58K 1.000 pfam_EZH2_WD-Binding pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH1 HGNC F12 2161 genome.wustl.edu 37 5 176832361 176832361 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 176832361 176832361 G A SNP F12 ENST00000253496 human ensembl 70_37 -1 known silent c.360 p.L120 0.999 pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_EG-like_dom pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_EG-like_dom,pfam_Fibronectin_type1,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,prints_Peptidase_S1A,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors F12 HGNC FABP1 2168 genome.wustl.edu 37 2 88427534 88427534 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 88427534 88427534 C T SNP FABP1 ENST00000295834 human ensembl 70_37 -1 known missense c.3 p.M1I 1.000 NULL pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP1 HGNC FADS1 3992 genome.wustl.edu 37 11 61570319 61570319 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 61570319 61570319 C G SNP FADS1 ENST00000350997 human ensembl 70_37 -1 known missense c.1408 p.E470Q 0.720 pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5,superfamily_Cyt_B5,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5,prints_Cyt_B5 - no_errors FADS1 HGNC FAIM3 9214 genome.wustl.edu 37 1 207086294 207086294 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 207086294 207086294 G A SNP FAIM3 ENST00000367091 human ensembl 70_37 -1 known missense c.467 p.S156F 0.085 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub - no_errors FAIM3 HGNC FAM111B 374393 genome.wustl.edu 37 11 58891745 58891745 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 58891745 58891745 G A SNP FAM111B ENST00000343597 human ensembl 70_37 +1 known missense c.175 p.E59K 0.002 NULL superfamily_Pept_cys/ser_Trypsin-like - no_errors FAM111B HGNC AMER1 139285 genome.wustl.edu 37 X 63412870 63412870 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 63412870 63412870 C T SNP FAM123B ENST00000330258 human ensembl 70_37 -1 known silent c.297 p.L99 0.907 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors FAM123B HGNC FAM151A 338094 genome.wustl.edu 37 1 55078239 55078239 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 55078239 55078239 C G SNP FAM151A ENST00000302250 human ensembl 70_37 -1 known missense c.720 p.Q240H 1.000 pfam_DUF2181 pfam_DUF2181 - no_errors FAM151A HGNC FAM151B 167555 genome.wustl.edu 37 5 79809527 79809527 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 79809527 79809527 C G SNP FAM151B ENST00000282226 human ensembl 70_37 +1 known missense c.256 p.L86V 0.808 pfam_DUF2181 pfam_DUF2181 - no_errors FAM151B HGNC FAM160A2 84067 genome.wustl.edu 37 11 6239851 6239851 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 6239851 6239851 C G SNP FAM160A2 ENST00000265978 human ensembl 70_37 -1 known missense c.1414 p.E472Q 1.000 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160A2 HGNC FAM178B 51252 genome.wustl.edu 37 2 97637691 97637691 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 97637691 97637691 C G SNP FAM178B ENST00000417561 human ensembl 70_37 -1 known missense c.955 p.E319Q 0.000 NULL NULL - no_errors FAM178B HGNC FAM180A 389558 genome.wustl.edu 37 7 135418901 135418901 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 135418901 135418901 G C SNP FAM180A ENST00000338588 human ensembl 70_37 -1 known missense c.344 p.P115R 0.000 NULL NULL - no_errors FAM180A HGNC FAM184A 79632 genome.wustl.edu 37 6 119327698 119327698 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 119327698 119327698 G A SNP FAM184A ENST00000338891 human ensembl 70_37 -1 known nonsense c.1729 p.Q577* 1.000 superfamily_Prefoldin superfamily_Prefoldin - no_errors FAM184A HGNC FAM186A 121006 genome.wustl.edu 37 12 50757009 50757009 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 50757009 50757009 C G SNP FAM186A ENST00000327337 human ensembl 70_37 -1 known missense c.331 p.E111Q 0.118 NULL NULL - no_errors FAM186A HGNC CCSER1 401145 genome.wustl.edu 37 4 91701592 91701592 + Splice_Site SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 91701592 91701592 G C SNP FAM190A ENST00000432775 human ensembl 70_37 +1 known splice_site c.2011-1 e7-1 0.000 - - - no_errors FAM190A HGNC FAM194A 131831 genome.wustl.edu 37 3 150404129 150404129 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 150404129 150404129 G C SNP FAM194A ENST00000295910 human ensembl 70_37 -1 known missense c.566 p.S189C 0.000 NULL NULL - no_errors FAM194A HGNC FAM211B 388886 genome.wustl.edu 37 22 24984193 24984193 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 24984193 24984193 C G SNP FAM211B ENST00000318753 human ensembl 70_37 -1 known missense c.411 p.K137N 0.214 NULL NULL - no_errors FAM211B HGNC FAM217B 63939 genome.wustl.edu 37 20 58520067 58520067 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 58520067 58520067 G A SNP FAM217B ENST00000358293 human ensembl 70_37 +1 known missense c.1069 p.E357K 0.002 NULL NULL - no_errors FAM217B HGNC FAM222B 55731 genome.wustl.edu 37 17 27086112 27086112 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 27086112 27086112 C G SNP FAM222B ENST00000341217 human ensembl 70_37 -1 known missense c.865 p.E289Q 1.000 NULL NULL - no_errors FAM222B HGNC FAM86C2P 645332 genome.wustl.edu 37 11 67570507 67570507 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 67570507 67570507 G C SNP FAM86C2P ENST00000525180 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors FAM86C2P HGNC FAM86EP 348926 genome.wustl.edu 37 4 3944218 3944218 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 3944218 3944218 G A SNP FAM86EP ENST00000313946 human ensembl 70_37 -1 known rna NULL NULL 0.995 - - - no_errors FAM86EP HGNC FAM91A1 157769 genome.wustl.edu 37 8 124824814 124824814 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 124824814 124824814 C T SNP FAM91A1 ENST00000334705 human ensembl 70_37 +1 known missense c.2387 p.S796L 1.000 NULL NULL - no_errors FAM91A1 HGNC FASN 2194 genome.wustl.edu 37 17 80041246 80041246 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 80041246 80041246 G C SNP FASN ENST00000306749 human ensembl 70_37 -1 known missense c.5397 p.F1799L 0.992 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 FAT2 2196 genome.wustl.edu 37 5 150946710 150946710 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 150946710 150946710 G A SNP FAT2 ENST00000261800 human ensembl 70_37 -1 known nonsense c.1783 p.Q595* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC FAT2 2196 genome.wustl.edu 37 5 150946976 150946976 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 150946976 150946976 G A SNP FAT2 ENST00000261800 human ensembl 70_37 -1 known missense c.1517 p.S506F 0.004 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC FAT3 120114 genome.wustl.edu 37 11 92087928 92087928 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 92087928 92087928 G A SNP FAT3 ENST00000298047 human ensembl 70_37 +1 known missense c.2650 p.G884R 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC FAT3 120114 genome.wustl.edu 37 11 92532507 92532507 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 92532507 92532507 G T SNP FAT3 ENST00000298047 human ensembl 70_37 +1 known missense c.6328 p.D2110Y 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC FAT4 79633 genome.wustl.edu 37 4 126411501 126411501 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 126411501 126411501 C T SNP FAT4 ENST00000394329 human ensembl 70_37 +1 known silent c.13524 p.I4508 0.990 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC FBXL4 26235 genome.wustl.edu 37 6 99347235 99347235 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 99347235 99347235 G A SNP FBXL4 ENST00000229971 human ensembl 70_37 -1 known missense c.1226 p.S409F 1.000 smart_Leu-rich_rpt_Cys-con_subtyp 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 FBXO24 26261 genome.wustl.edu 37 7 100192016 100192016 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 100192016 100192016 G T SNP FBXO24 ENST00000427939 human ensembl 70_37 +1 known missense c.918 p.K306N 1.000 superfamily_Reg_csome_cond/b-lactamase_inh pfam_F-box_dom_cyclin-like,pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_Reg_chr_condens - no_errors FBXO24 HGNC FCHSD2 9873 genome.wustl.edu 37 11 72554398 72554398 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 72554398 72554398 C T SNP FCHSD2 ENST00000474099 human ensembl 70_37 -1 putative rna NULL NULL 0.003 - - - no_errors FCHSD2 HGNC FCRL1 115350 genome.wustl.edu 37 1 157773648 157773648 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 157773648 157773648 C T SNP FCRL1 ENST00000368176 human ensembl 70_37 -1 known silent c.306 p.Q102 0.000 smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL1 HGNC FDXACB1 91893 genome.wustl.edu 37 11 111749417 111749418 + Frame_Shift_Ins INS - - C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 111749417 111749418 - C INS FDXACB1 ENST00000260257 human ensembl 70_37 -1 known frame_shift_ins c.192_191 p.V65fs 0.942:0.953 pfam_DUF2431 pfam_DUF2431,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd - no_errors FDXACB1 HGNC FDXACB1 91893 genome.wustl.edu 37 11 111749420 111749420 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 111749420 111749420 G A SNP FDXACB1 ENST00000260257 human ensembl 70_37 -1 known silent c.189 p.F63 0.940 pfam_DUF2431 pfam_DUF2431,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd - no_errors FDXACB1 HGNC FERMT3 83706 genome.wustl.edu 37 11 63986825 63986825 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 63986825 63986825 C T SNP FERMT3 ENST00000279227 human ensembl 70_37 +1 known silent c.889 p.L297 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain pfam_FERM_central,pfam_Pleckstrin_homology,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT3 HGNC FGF3 2248 genome.wustl.edu 37 11 69631089 69631089 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 69631089 69631089 G A SNP FGF3 ENST00000334134 human ensembl 70_37 -1 known missense c.323 p.S108L 1.000 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF3 HGNC FLAD1 80308 genome.wustl.edu 37 1 154961004 154961004 + Nonsense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 154961004 154961004 G T SNP FLAD1 ENST00000292180 human ensembl 70_37 +1 known nonsense c.796 p.E266* 1.000 pfam_Mopterin-bd,superfamily_Mopterin-bd,smart_Mopterin-bd,pirsf_FAD_synth_Mopterin-bd pfam_Mopterin-bd,pfam_PAPS_reduct,superfamily_Mopterin-bd,smart_Mopterin-bd,pirsf_FAD_synth_Mopterin-bd - no_errors FLAD1 HGNC FLAD1 80308 genome.wustl.edu 37 1 154961012 154961012 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 154961012 154961012 G A SNP FLAD1 ENST00000292180 human ensembl 70_37 +1 known missense c.804 p.M268I 0.069 pfam_Mopterin-bd,superfamily_Mopterin-bd,smart_Mopterin-bd,pirsf_FAD_synth_Mopterin-bd pfam_Mopterin-bd,pfam_PAPS_reduct,superfamily_Mopterin-bd,smart_Mopterin-bd,pirsf_FAD_synth_Mopterin-bd - no_errors FLAD1 HGNC FLG2 388698 genome.wustl.edu 37 1 152328793 152328793 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 152328793 152328793 G C SNP FLG2 ENST00000388718 human ensembl 70_37 -1 known missense c.1469 p.S490C 0.893 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG2 HGNC FLJ26850 400710 genome.wustl.edu 37 19 50553883 50553883 + RNA SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 50553883 50553883 C A SNP FLJ26850 ENST00000527209 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2126E3.1 Clone_based_vega_gene FLT1 2321 genome.wustl.edu 37 13 28919631 28919631 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 13 28919631 28919631 G A SNP FLT1 ENST00000282397 human ensembl 70_37 -1 known missense c.2306 p.A769V 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT1 HGNC FNBP1 23048 genome.wustl.edu 37 9 132687391 132687391 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 132687391 132687391 G C SNP FNBP1 ENST00000372416 human ensembl 70_37 -1 known missense c.835 p.P279A 1.000 NULL 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 FOXO4 4303 genome.wustl.edu 37 X 70320631 70320631 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 70320631 70320631 G A SNP FOXO4 ENST00000374259 human ensembl 70_37 +1 known missense c.551 p.G184E 0.999 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO4 HGNC FOXRED2 80020 genome.wustl.edu 37 22 36892146 36892146 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 36892146 36892146 C T SNP FOXRED2 ENST00000216187 human ensembl 70_37 -1 known missense c.1492 p.E498K 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors FOXRED2 HGNC FPR2 2358 genome.wustl.edu 37 19 52272802 52272802 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 52272802 52272802 C T SNP FPR2 ENST00000340023 human ensembl 70_37 +1 known silent c.891 p.L297 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Frt_met_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_P2_purnocptor,prints_DEZorph_rcpt - no_errors FPR2 HGNC FRAS1 80144 genome.wustl.edu 37 4 79420976 79420976 + Nonsense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 79420976 79420976 C T SNP FRAS1 ENST00000264895 human ensembl 70_37 +1 known nonsense c.9217 p.Q3073* 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC FREM2 341640 genome.wustl.edu 37 13 39357288 39357288 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 13 39357288 39357288 G C SNP FREM2 ENST00000280481 human ensembl 70_37 +1 known missense c.5723 p.G1908A 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC FRMD4B 23150 genome.wustl.edu 37 3 69265484 69265484 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 69265484 69265484 G C SNP FRMD4B ENST00000398540 human ensembl 70_37 -1 known missense c.806 p.P269R 1.000 pfam_FERM_PH-like_C,pfscan_FERM_domain pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4B HGNC FRMPD2 143162 genome.wustl.edu 37 10 49459636 49459636 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 49459636 49459636 C G SNP FRMPD2 ENST00000374201 human ensembl 70_37 -1 known missense c.124 p.E42Q 0.454 smart_KIND pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC FRY 10129 genome.wustl.edu 37 13 32776588 32776588 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 13 32776588 32776588 C G SNP FRY ENST00000380250 human ensembl 70_37 +1 known silent c.3942 p.L1314 1.000 NULL superfamily_ARM-type_fold - no_errors FRY HGNC FRY 10129 genome.wustl.edu 37 13 32785125 32785125 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 13 32785125 32785125 C T SNP FRY ENST00000380250 human ensembl 70_37 +1 known silent c.4545 p.P1515 0.942 NULL superfamily_ARM-type_fold - no_errors FRY HGNC FSCB 84075 genome.wustl.edu 37 14 44975541 44975541 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 44975541 44975541 G A SNP FSCB ENST00000340446 human ensembl 70_37 -1 known missense c.650 p.S217L 0.001 NULL NULL - no_errors FSCB HGNC FUBP3 8939 genome.wustl.edu 37 9 133472045 133472045 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 133472045 133472045 C T SNP FUBP3 ENST00000372376 human ensembl 70_37 +1 known missense c.7 p.P3S 0.003 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FUBP3 HGNC FZD7 8324 genome.wustl.edu 37 2 202901050 202901050 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 202901050 202901050 C G SNP FZD7 ENST00000286201 human ensembl 70_37 +1 known missense c.1680 p.F560L 1.000 pfam_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD7 HGNC GABBR2 9568 genome.wustl.edu 37 9 101061587 101061587 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 101061587 101061587 C G SNP GABBR2 ENST00000259455 human ensembl 70_37 -1 known missense c.2461 p.E821Q 1.000 NULL pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3 - no_errors GABBR2 HGNC GALNT4 8693 genome.wustl.edu 37 12 89917392 89917392 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 89917392 89917392 C T SNP GALNT4 ENST00000529983 human ensembl 70_37 -1 known missense c.935 p.G312E 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT4 HGNC GBP1P1 400759 genome.wustl.edu 37 1 89889986 89889986 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 89889986 89889986 G C SNP GBP1P1 ENST00000513638 human ensembl 70_37 +1 known rna NULL NULL 0.049 - - - no_errors GBP1P1 HGNC GBP7 388646 genome.wustl.edu 37 1 89637576 89637576 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 89637576 89637576 C G SNP GBP7 ENST00000294671 human ensembl 70_37 -1 known missense c.43 p.E15Q 0.001 NULL pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors GBP7 HGNC GCC2 9648 genome.wustl.edu 37 2 109109215 109109215 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 109109215 109109215 C T SNP GCC2 ENST00000309863 human ensembl 70_37 +1 known silent c.4416 p.L1472 1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC GCH1 2643 genome.wustl.edu 37 14 55313836 55313836 + Silent SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 55313836 55313836 G T SNP GCH1 ENST00000395514 human ensembl 70_37 -1 known silent c.522 p.I174 1.000 pfam_GTP_CycHdrlase_I/CN_OxRdtase,tigrfam_GTP_CycHdrlase_I pfam_GTP_CycHdrlase_I/CN_OxRdtase,tigrfam_GTP_CycHdrlase_I - no_errors GCH1 HGNC GDF9 2661 genome.wustl.edu 37 5 132200008 132200008 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 132200008 132200008 C T SNP GDF9 ENST00000296875 human ensembl 70_37 -1 known missense c.218 p.R73Q 0.000 NULL pfam_TGF-b_C,smart_TGF-b_C - no_errors GDF9 HGNC GFPT1 2673 genome.wustl.edu 37 2 69575310 69575310 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 69575310 69575310 G A SNP GFPT1 ENST00000357308 human ensembl 70_37 -1 known silent c.1002 p.I334 1.000 tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT1 HGNC GFPT2 9945 genome.wustl.edu 37 5 179743390 179743390 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 179743390 179743390 C G SNP GFPT2 ENST00000253778 human ensembl 70_37 -1 known missense c.1224 p.R408S 1.000 pfam_SIS,tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC GFPT2 9945 genome.wustl.edu 37 5 179743416 179743416 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 179743416 179743416 C T SNP GFPT2 ENST00000253778 human ensembl 70_37 -1 known missense c.1198 p.E400K 1.000 pfam_SIS,tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC GFRA3 2676 genome.wustl.edu 37 5 137600194 137600194 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 137600194 137600194 G C SNP GFRA3 ENST00000274721 human ensembl 70_37 -1 known silent c.135 p.L45 0.996 pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt_A3 pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3 - no_errors GFRA3 HGNC GGCX 2677 genome.wustl.edu 37 2 85777799 85777799 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 85777799 85777799 G C SNP GGCX ENST00000233838 human ensembl 70_37 -1 known missense c.1963 p.L655V 1.000 NULL pfam_VKG_COase,superfamily_RmlC_Cupin,smart_HTTM - no_errors GGCX HGNC GIGYF1 64599 genome.wustl.edu 37 7 100284359 100284359 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 100284359 100284359 C G SNP GIGYF1 ENST00000275732 human ensembl 70_37 -1 known missense c.607 p.E203Q 0.997 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC GINS2 51659 genome.wustl.edu 37 16 85711821 85711821 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 85711821 85711821 G T SNP GINS2 ENST00000253462 human ensembl 70_37 -1 known missense c.555 p.F185L 0.997 NULL pfam_GINS_complex,pirsf_GINS_Psf2_subgr - no_errors GINS2 HGNC GJA9 81025 genome.wustl.edu 37 1 39340261 39340261 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 39340261 39340261 G C SNP GJA9 ENST00000357771 human ensembl 70_37 -1 known missense c.1510 p.L504V 0.203 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJA9 HGNC GJA9 81025 genome.wustl.edu 37 1 39340415 39340415 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 39340415 39340415 G C SNP GJA9 ENST00000357771 human ensembl 70_37 -1 known silent c.1356 p.V452 0.001 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJA9 HGNC GK5 256356 genome.wustl.edu 37 3 141884578 141884578 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 141884578 141884578 C G SNP GK5 ENST00000392993 human ensembl 70_37 -1 known silent c.1476 p.L492 1.000 NULL pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C - no_errors GK5 HGNC GLB1L 79411 genome.wustl.edu 37 2 220102371 220102371 + Missense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 220102371 220102371 C A SNP GLB1L ENST00000295759 human ensembl 70_37 -1 known missense c.1552 p.V518L 0.961 superfamily_Galactose-bd-like pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L HGNC GLI3 2737 genome.wustl.edu 37 7 42011988 42011988 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 42011988 42011988 G A SNP GLI3 ENST00000395925 human ensembl 70_37 -1 known missense c.2051 p.S684L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC GLIS3 169792 genome.wustl.edu 37 9 3829394 3829394 + Nonsense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 3829394 3829394 C A SNP GLIS3 ENST00000381971 human ensembl 70_37 -1 known nonsense c.2572 p.E858* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS3 HGNC GLUL 2752 genome.wustl.edu 37 1 182353749 182353749 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 182353749 182353749 C T SNP GLUL ENST00000311223 human ensembl 70_37 -1 known missense c.913 p.E305K 1.000 pfam_Gln_synth_cat_dom pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta - no_errors GLUL HGNC GLUL 2752 genome.wustl.edu 37 1 182359958 182359958 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 182359958 182359958 C T SNP GLUL ENST00000480604 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GLUL HGNC GNAT2 2780 genome.wustl.edu 37 1 110148947 110148947 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 110148947 110148947 G C SNP GNAT2 ENST00000351050 human ensembl 70_37 -1 known silent c.573 p.V191 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_I pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAT2 HGNC GNL1 2794 genome.wustl.edu 37 6 30522370 30522370 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 30522370 30522370 G A SNP GNL1 ENST00000376621 human ensembl 70_37 -1 known silent c.582 p.I194 1.000 NULL pfam_GTP_binding_domain - no_errors GNL1 HGNC GNN 253724 genome.wustl.edu 37 12 104255045 104255045 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 104255045 104255045 G A SNP GNN ENST00000548527 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-642P15.1 Clone_based_vega_gene GOLGB1 2804 genome.wustl.edu 37 3 121409879 121409879 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 121409879 121409879 C G SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.8317 p.E2773Q 0.999 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC GOLGB1 2804 genome.wustl.edu 37 3 121445852 121445852 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 121445852 121445852 C G SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.439 p.E147Q 0.873 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC GPKOW 27238 genome.wustl.edu 37 X 48976168 48976168 + Splice_Site SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 48976168 48976168 C A SNP GPKOW ENST00000156109 human ensembl 70_37 -1 known splice_site c.457-1 e4-1 0.130 - - - no_errors GPKOW HGNC GPR107 57720 genome.wustl.edu 37 9 132897326 132897326 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 132897326 132897326 G A SNP GPR107 ENST00000372406 human ensembl 70_37 +1 known missense c.1729 p.E577K 1.000 NULL pfam_TM_rcpt_euk,pfam_Rhodopsin-like_GPCR_TM_domain - no_errors GPR107 HGNC GPR112 139378 genome.wustl.edu 37 X 135405122 135405122 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 135405122 135405122 G C SNP GPR112 ENST00000370652 human ensembl 70_37 +1 known missense c.256 p.E86Q 0.842 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin 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 C5AR2 27202 genome.wustl.edu 37 19 47844929 47844929 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 47844929 47844929 C T SNP GPR77 ENST00000257267 human ensembl 70_37 +1 known silent c.873 p.F291 1.000 pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_C5A_anaphtx_rcpt - no_errors GPR77 HGNC GPR97 222487 genome.wustl.edu 37 16 57712222 57712222 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 57712222 57712222 C T SNP GPR97 ENST00000333493 human ensembl 70_37 +1 known silent c.486 p.L162 0.584 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR97 HGNC GRAMD1A 57655 genome.wustl.edu 37 19 35501052 35501052 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 35501052 35501052 G A SNP GRAMD1A ENST00000317991 human ensembl 70_37 +1 known missense c.382 p.E128K 1.000 pfam_GRAM,smart_GRAM pfam_GRAM,smart_GRAM - no_errors GRAMD1A HGNC GRID1 2894 genome.wustl.edu 37 10 87484394 87484394 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 87484394 87484394 C G SNP GRID1 ENST00000327946 human ensembl 70_37 -1 known missense c.1573 p.E525Q 1.000 pfam_SBP_bac_3,smart_Iontro_glu_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 GRIN2C 2905 genome.wustl.edu 37 17 72843459 72843459 + Silent SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 72843459 72843459 G T SNP GRIN2C ENST00000293190 human ensembl 70_37 -1 known silent c.1989 p.L663 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2C HGNC GRIP1 23426 genome.wustl.edu 37 12 66800072 66800072 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 66800072 66800072 C T SNP GRIP1 ENST00000359742 human ensembl 70_37 -1 known missense c.1975 p.D659N 1.000 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC GRM6 2916 genome.wustl.edu 37 5 178413374 178413374 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 178413374 178413374 G C SNP GRM6 ENST00000231188 human ensembl 70_37 -1 known silent c.1881 p.L627 0.892 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 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_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC GRPR 2925 genome.wustl.edu 37 X 16142202 16142202 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 16142202 16142202 C T SNP GRPR ENST00000380289 human ensembl 70_37 +1 known silent c.126 p.V42 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GRPR HGNC GRXCR1 389207 genome.wustl.edu 37 4 43032426 43032426 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 43032426 43032426 C T SNP GRXCR1 ENST00000399770 human ensembl 70_37 +1 known missense c.742 p.L248F 1.000 superfamily_HSP_DnaJ_Cys-rich_dom pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom - no_errors GRXCR1 HGNC GSDMC 56169 genome.wustl.edu 37 8 130762759 130762759 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 130762759 130762759 G A SNP GSDMC ENST00000276708 human ensembl 70_37 -1 known missense c.1001 p.S334L 0.004 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMC HGNC GSTA2 2939 genome.wustl.edu 37 6 52619832 52619832 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 52619832 52619832 C G SNP GSTA2 ENST00000493422 human ensembl 70_37 -1 known missense c.181 p.D61H 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,prints_GST_alpha - no_errors GSTA2 HGNC GTF2IRD2P1 401375 genome.wustl.edu 37 7 72657426 72657426 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 72657426 72657426 G C SNP GTF2IRD2P1 ENST00000425256 human ensembl 70_37 -1 known rna NULL NULL 0.611 - - - no_errors GTF2IRD2P1 HGNC GUSBP2 387036 genome.wustl.edu 37 6 26892977 26892977 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 26892977 26892977 C T SNP GUSBP2 ENST00000463434 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors GUSBP2 HGNC GYS1 2997 genome.wustl.edu 37 19 49472556 49472556 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 49472556 49472556 C G SNP GYS1 ENST00000323798 human ensembl 70_37 -1 known missense c.2203 p.E735Q 1.000 NULL pfam_Glycogen_synth,pfam_Glyco_trans_1,pfam_Starch_synth_cat_dom - no_errors GYS1 HGNC H3F3B 3021 genome.wustl.edu 37 17 73774739 73774739 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 73774739 73774739 C T SNP H3F3B ENST00000592643 human ensembl 70_37 -1 putative missense c.275 p.R92K 1.000 NULL superfamily_Histone-fold,prints_Histone_H3 - no_errors H3F3B HGNC HCK 3055 genome.wustl.edu 37 20 30659515 30659515 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 30659515 30659515 C G SNP HCK ENST00000375852 human ensembl 70_37 +1 known nonsense c.113 p.S38* 0.709 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors HCK HGNC HECTD4 283450 genome.wustl.edu 37 12 112608139 112608139 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 112608139 112608139 C T SNP HECTD4 ENST00000377560 human ensembl 70_37 -1 known missense c.11534 p.G3845E 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC HECW2 57520 genome.wustl.edu 37 2 197183690 197183690 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 197183690 197183690 C G SNP HECW2 ENST00000260983 human ensembl 70_37 -1 known missense c.1924 p.D642H 0.935 NULL pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW2 HGNC HERC6 55008 genome.wustl.edu 37 4 89361087 89361087 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 89361087 89361087 G C SNP HERC6 ENST00000264346 human ensembl 70_37 +1 known missense c.2617 p.E873Q 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC6 HGNC HEXB 3074 genome.wustl.edu 37 5 74009455 74009455 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 74009455 74009455 G T SNP HEXB ENST00000261416 human ensembl 70_37 +1 known missense c.896 p.G299V 1.000 pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_20_cat-core,pfam_Glyco_hydro_20b,superfamily_Glycoside_hydrolase_SF,prints_Beta_hexosaminidase_sua/sub - no_errors HEXB HGNC HFM1 164045 genome.wustl.edu 37 1 91784910 91784910 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 91784910 91784910 C G SNP HFM1 ENST00000370425 human ensembl 70_37 -1 known missense c.2620 p.D874H 1.000 pfam_Sec63-dom,smart_Sec63-dom 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 HINT1 3094 genome.wustl.edu 37 5 130495251 130495251 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 130495251 130495251 C G SNP HINT1 ENST00000304043 human ensembl 70_37 -1 known silent c.270 p.L90 0.315 pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_Histidine_triad_HIT pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_Histidine_triad_HIT,prints_Histidine_triad_HIT - no_errors HINT1 HGNC HIP1 3092 genome.wustl.edu 37 7 75171284 75171284 + Nonsense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 75171284 75171284 G C SNP HIP1 ENST00000336926 human ensembl 70_37 -1 known nonsense c.2906 p.S969* 1.000 pfam_ILWEQ,smart_ILWEQ,pfscan_ILWEQ pfam_ANTH,pfam_ILWEQ,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ,pfscan_Epsin-like_N,pfscan_ILWEQ - no_errors HIP1 HGNC HIST1H1E 3008 genome.wustl.edu 37 6 26156771 26156771 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 26156771 26156771 C T SNP HIST1H1E ENST00000304218 human ensembl 70_37 +1 known silent c.153 p.S51 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 HIST1H3C 8352 genome.wustl.edu 37 6 26045930 26045930 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 26045930 26045930 G C SNP HIST1H3C ENST00000540144 human ensembl 70_37 +1 known missense c.292 p.E98Q 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3C HGNC HLA-A 3105 genome.wustl.edu 37 6 29912835 29912835 + Splice_Site SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 29912835 29912835 G C SNP HLA-A ENST00000376806 human ensembl 70_37 +1 known splice_site c.1031-1 e6-1 0.013 - - - no_errors HLA-A HGNC HLA-B 3106 genome.wustl.edu 37 6 31323241 31323241 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 31323241 31323241 G A SNP HLA-B ENST00000412585 human ensembl 70_37 -1 known nonsense c.748 p.Q250* 0.967 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like 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-B HGNC HLA-DQB1 3119 genome.wustl.edu 37 6 32629155 32629155 + Silent SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 32629155 32629155 C A SNP HLA-DQB1 ENST00000374943 human ensembl 70_37 -1 known silent c.741 p.L247 0.219 NULL 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-DQB1 HGNC HLA-E 3133 genome.wustl.edu 37 6 30458199 30458199 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 30458199 30458199 G A SNP HLA-E ENST00000376630 human ensembl 70_37 +1 known missense c.517 p.E173K 0.002 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-E HGNC HLX 3142 genome.wustl.edu 37 1 221055497 221055497 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 221055497 221055497 C T SNP HLX ENST00000549319 human ensembl 70_37 +1 putative missense c.122 p.S41F 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa,pfscan_Homeodomain - no_errors HLX HGNC HMMR 3161 genome.wustl.edu 37 5 162909670 162909670 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 162909670 162909670 G A SNP HMMR ENST00000393915 human ensembl 70_37 +1 known missense c.1408 p.E470K 0.881 NULL NULL - no_errors HMMR HGNC HNF1B 6928 genome.wustl.edu 37 17 36104746 36104746 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 36104746 36104746 C G SNP HNF1B ENST00000225893 human ensembl 70_37 -1 known missense c.130 p.E44Q 1.000 pfam_HNF-1_N pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeodomain,pfscan_Homeodomain - no_errors HNF1B HGNC HNRNPR 10236 genome.wustl.edu 37 1 23636896 23636896 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 23636896 23636896 G A SNP HNRNPR ENST00000476660 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors HNRNPR HGNC HOXA2 3199 genome.wustl.edu 37 7 27141772 27141772 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 27141772 27141772 G A SNP HOXA2 ENST00000222718 human ensembl 70_37 -1 known silent c.348 p.A116 0.943 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXA2 HGNC HOXA6 3203 genome.wustl.edu 37 7 27185519 27185519 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 27185519 27185519 G A SNP HOXA6 ENST00000222728 human ensembl 70_37 -1 known missense c.460 p.H154Y 1.000 superfamily_Homeodomain-like,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA6 HGNC HPS5 11234 genome.wustl.edu 37 11 18309092 18309092 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 18309092 18309092 C T SNP HPS5 ENST00000349215 human ensembl 70_37 -1 known missense c.2707 p.E903K 1.000 pirsf_BLOC-2_complex_Hps5_subunit superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit - no_errors HPS5 HGNC HRC 3270 genome.wustl.edu 37 19 49656892 49656892 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 49656892 49656892 C T SNP HRC ENST00000252825 human ensembl 70_37 -1 known missense c.1603 p.E535K 0.657 NULL pfam_Hist_rich_Ca-bd - no_errors HRC HGNC HSD17B13 345275 genome.wustl.edu 37 4 88231402 88231402 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 88231402 88231402 G A SNP HSD17B13 ENST00000328546 human ensembl 70_37 -1 known silent c.805 p.L269 0.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B13 HGNC HSPA4 3308 genome.wustl.edu 37 5 132409732 132409732 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 132409732 132409732 G A SNP HSPA4 ENST00000304858 human ensembl 70_37 +1 known missense c.577 p.E193K 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA4 HGNC HSPB11 51668 genome.wustl.edu 37 1 54387427 54387427 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 54387427 54387427 G C SNP HSPB11 ENST00000194214 human ensembl 70_37 -1 known missense c.332 p.S111C 0.088 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like - no_errors HSPB11 HGNC HSPG2 3339 genome.wustl.edu 37 1 22174210 22174210 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 22174210 22174210 C T SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known missense c.7997 p.R2666H 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC HSPG2 3339 genome.wustl.edu 37 1 22201113 22201113 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 22201113 22201113 C T SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known missense c.3524 p.C1175Y 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC HSPG2 3339 genome.wustl.edu 37 1 22201525 22201525 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 22201525 22201525 G C SNP HSPG2 ENST00000498495 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors HSPG2 HGNC HTR3D 200909 genome.wustl.edu 37 3 183756393 183756393 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 183756393 183756393 C T SNP HTR3D ENST00000382489 human ensembl 70_37 +1 known silent c.1116 p.L372 0.004 superfamily_Neurotrans-gated_channel_TM pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd - no_errors HTR3D HGNC HYOU1 10525 genome.wustl.edu 37 11 118920534 118920534 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 118920534 118920534 C G SNP HYOU1 ENST00000404233 human ensembl 70_37 -1 known missense c.1681 p.E561Q 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC HYOU1 10525 genome.wustl.edu 37 11 118924883 118924883 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 118924883 118924883 C T SNP HYOU1 ENST00000404233 human ensembl 70_37 -1 known silent c.744 p.V248 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC IDE 3416 genome.wustl.edu 37 10 94264597 94264597 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 94264597 94264597 C G SNP IDE ENST00000265986 human ensembl 70_37 -1 known missense c.1384 p.D462H 1.000 superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors IDE HGNC IDE 3416 genome.wustl.edu 37 10 94269864 94269864 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 94269864 94269864 G T SNP IDE ENST00000265986 human ensembl 70_37 -1 known missense c.840 p.N280K 1.000 pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors IDE HGNC IDI1 3422 genome.wustl.edu 37 10 1087432 1087432 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 1087432 1087432 C G SNP IDI1 ENST00000381344 human ensembl 70_37 -1 known missense c.550 p.E184Q 1.000 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 - no_errors IDI1 HGNC IDI2 91734 genome.wustl.edu 37 10 1065765 1065765 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 1065765 1065765 C G SNP IDI2 ENST00000277517 human ensembl 70_37 -1 known missense c.376 p.E126Q 0.021 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 - no_errors IDI2 HGNC IFI16 3428 genome.wustl.edu 37 1 159002419 159002419 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 159002419 159002419 G A SNP IFI16 ENST00000295809 human ensembl 70_37 +1 known missense c.1267 p.E423K 0.000 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC IFT81 28981 genome.wustl.edu 37 12 110630459 110630459 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 110630459 110630459 C T SNP IFT81 ENST00000242591 human ensembl 70_37 +1 known missense c.1505 p.S502L 1.000 NULL NULL - no_errors IFT81 HGNC IGF2BP3 10643 genome.wustl.edu 37 7 23387308 23387308 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 23387308 23387308 C T SNP IGF2BP3 ENST00000258729 human ensembl 70_37 -1 known silent c.729 p.S243 0.031 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP3 HGNC IGSF10 285313 genome.wustl.edu 37 3 151155959 151155959 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 151155959 151155959 C T SNP IGSF10 ENST00000282466 human ensembl 70_37 -1 known missense c.6390 p.M2130I 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF10 HGNC IGSF9 57549 genome.wustl.edu 37 1 159899721 159899721 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 159899721 159899721 G A SNP IGSF9 ENST00000368094 human ensembl 70_37 -1 known silent c.2109 p.F703 0.926 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF9 HGNC IGSF9B 22997 genome.wustl.edu 37 11 133790132 133790132 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 133790132 133790132 G A SNP IGSF9B ENST00000321016 human ensembl 70_37 -1 known missense c.3488 p.T1163I 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF9B HGNC IKBIP 121457 genome.wustl.edu 37 12 99020541 99020541 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 99020541 99020541 C G SNP IKBIP ENST00000299157 human ensembl 70_37 -1 known missense c.301 p.E101Q 1.000 NULL NULL - no_errors IKBIP HGNC IL12B 3593 genome.wustl.edu 37 5 158750066 158750066 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 158750066 158750066 C G SNP IL12B ENST00000231228 human ensembl 70_37 -1 known missense c.360 p.Q120H 1.000 superfamily_Fibronectin_type3,pirsf_IL_12_beta pfam_Interleukin-12_bsu_cen-dom,superfamily_Fibronectin_type3,smart_Ig_sub2,pirsf_IL_12_beta,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_IL_12_beta - no_errors IL12B HGNC IL17A 3605 genome.wustl.edu 37 6 52053995 52053995 + Nonsense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 52053995 52053995 G T SNP IL17A ENST00000340057 human ensembl 70_37 +1 known nonsense c.373 p.E125* 0.365 pfam_Interleukin-17 pfam_Interleukin-17,prints_Interleukin-17_chordata - no_errors IL17A HGNC IL27RA 9466 genome.wustl.edu 37 19 14160003 14160003 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 14160003 14160003 G A SNP IL27RA ENST00000263379 human ensembl 70_37 +1 known missense c.1279 p.D427N 0.673 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL27RA HGNC ILF2 3608 genome.wustl.edu 37 1 153634542 153634542 + RNA SNP T T C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 153634542 153634542 T C SNP ILF2 ENST00000480213 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ILF2 HGNC INMT 11185 genome.wustl.edu 37 7 30795311 30795311 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 30795311 30795311 C T SNP INMT ENST00000013222 human ensembl 70_37 +1 known silent c.636 p.S212 0.426 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors INMT HGNC INPP5D 3635 genome.wustl.edu 37 2 233944076 233944076 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 233944076 233944076 C T SNP INPP5D ENST00000359570 human ensembl 70_37 +1 known silent c.166 p.L56 0.995 pfam_SH2,smart_SH2,pfscan_SH2 pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2 - no_errors INPP5D HGNC INPP5E 56623 genome.wustl.edu 37 9 139325521 139325521 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 139325521 139325521 G A SNP INPP5E ENST00000371712 human ensembl 70_37 -1 known missense c.1598 p.S533L 0.938 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5E HGNC INTS7 25896 genome.wustl.edu 37 1 212190329 212190329 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 212190329 212190329 C T SNP INTS7 ENST00000366994 human ensembl 70_37 -1 known silent c.408 p.R136 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors INTS7 HGNC INVS 27130 genome.wustl.edu 37 9 103054935 103054935 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 103054935 103054935 G A SNP INVS ENST00000262457 human ensembl 70_37 +1 known missense c.2396 p.R799K 0.745 NULL pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC IRF1 3659 genome.wustl.edu 37 5 131823709 131823709 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 131823709 131823709 C G SNP IRF1 ENST00000245414 human ensembl 70_37 -1 known missense c.96 p.M32I 1.000 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF1 HGNC IRF6 3664 genome.wustl.edu 37 1 209961873 209961873 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 209961873 209961873 G C SNP IRF6 ENST00000367021 human ensembl 70_37 -1 known missense c.1296 p.I432M 0.134 superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF6 HGNC ITGAD 3681 genome.wustl.edu 37 16 31424553 31424553 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 31424553 31424553 C G SNP ITGAD ENST00000389202 human ensembl 70_37 +1 known nonsense c.1982 p.S661* 0.006 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAD HGNC JAK3 3718 genome.wustl.edu 37 19 17953301 17953301 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 17953301 17953301 C T SNP JAK3 ENST00000458235 human ensembl 70_37 -1 known missense c.685 p.A229T 0.983 superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK3 HGNC JARID2 3720 genome.wustl.edu 37 6 15452293 15452293 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 15452293 15452293 C T SNP JARID2 ENST00000341776 human ensembl 70_37 +1 known missense c.380 p.T127I 1.000 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC JMY 133746 genome.wustl.edu 37 5 78610183 78610183 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 78610183 78610183 C T SNP JMY ENST00000396137 human ensembl 70_37 +1 known missense c.2168 p.S723F 0.005 NULL pfscan_WH2_dom - no_errors JMY HGNC JPH1 56704 genome.wustl.edu 37 8 75227566 75227566 + Silent SNP A A T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 75227566 75227566 A T SNP JPH1 ENST00000342232 human ensembl 70_37 -1 known silent c.669 p.L223 0.152 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH1 HGNC KCNA4 3739 genome.wustl.edu 37 11 30034993 30034993 + RNA SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 30034993 30034993 G T SNP KCNA4 ENST00000526518 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors KCNA4 HGNC KCNIP2 30819 genome.wustl.edu 37 10 103587399 103587399 + Nonstop_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 103587399 103587399 C G SNP KCNIP2 ENST00000239117 human ensembl 70_37 -1 known nonstop c.554 p.*185S 0.000 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors KCNIP2 HGNC KCNIP3 30818 genome.wustl.edu 37 2 96048139 96048139 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 96048139 96048139 C G SNP KCNIP3 ENST00000295225 human ensembl 70_37 +1 known missense c.570 p.I190M 1.000 pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors KCNIP3 HGNC KCNK13 56659 genome.wustl.edu 37 14 90650517 90650517 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 90650517 90650517 G C SNP KCNK13 ENST00000282146 human ensembl 70_37 +1 known missense c.397 p.V133L 0.411 pfam_Ion_trans_2,prints_2pore_dom_K_chnl pfam_Ion_trans_2,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK13 HGNC KDM1A 23028 genome.wustl.edu 37 1 23399797 23399797 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 23399797 23399797 C T SNP KDM1A ENST00000542151 human ensembl 70_37 +1 known silent c.1635 p.L545 0.988 pfam_Amino_oxidase,pirsf_Hist_Lys-spec_deMease pfam_Amino_oxidase,pfam_SWIRM,pfam_FAD-dep_OxRdtase,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pirsf_Hist_Lys-spec_deMease,pfscan_SWIRM - no_errors KDM1A HGNC KDM2A 22992 genome.wustl.edu 37 11 67024771 67024771 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 67024771 67024771 G A SNP KDM2A ENST00000524657 human ensembl 70_37 +1 known rna NULL NULL 0.199 - - - no_errors KDM2A HGNC KDM4C 23081 genome.wustl.edu 37 9 7011800 7011800 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 7011800 7011800 C T SNP KDM4C ENST00000381309 human ensembl 70_37 +1 known missense c.1889 p.A630V 1.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC KIAA0319L 79932 genome.wustl.edu 37 1 35920058 35920058 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 35920058 35920058 G C SNP KIAA0319L ENST00000325722 human ensembl 70_37 -1 known missense c.1685 p.S562C 1.000 superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319L HGNC KIAA0754 643314 genome.wustl.edu 37 1 39877348 39877348 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 39877348 39877348 G C SNP KIAA0754 ENST00000530275 human ensembl 70_37 +1 known missense c.1003 p.E335Q 1.000 NULL NULL - no_errors KIAA0754 HGNC KIAA1009 22832 genome.wustl.edu 37 6 84871559 84871559 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 84871559 84871559 C G SNP KIAA1009 ENST00000403245 human ensembl 70_37 -1 known missense c.2582 p.R861T 1.000 NULL NULL - no_errors KIAA1009 HGNC KIAA1107 23285 genome.wustl.edu 37 1 92647526 92647526 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 92647526 92647526 C T SNP KIAA1107 ENST00000409154 human ensembl 70_37 +1 known missense c.3137 p.S1046F 0.993 NULL NULL - no_errors KIAA1107 HGNC KIAA1244 57221 genome.wustl.edu 37 6 138608232 138608232 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 138608232 138608232 C T SNP KIAA1244 ENST00000251691 human ensembl 70_37 +1 known missense c.2807 p.S936L 1.000 superfamily_ARM-type_fold pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7 - no_errors KIAA1244 HGNC KIAA1324 57535 genome.wustl.edu 37 1 109731732 109731732 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 109731732 109731732 G A SNP KIAA1324 ENST00000369939 human ensembl 70_37 +1 known missense c.1264 p.E422K 1.000 superfamily_Growth_fac_rcpt superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt - no_errors KIAA1324 HGNC KIAA1551 55196 genome.wustl.edu 37 12 32138266 32138266 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 32138266 32138266 G C SNP KIAA1551 ENST00000312561 human ensembl 70_37 +1 known silent c.4377 p.L1459 0.000 NULL NULL - no_errors KIAA1551 HGNC KIAA1683 80726 genome.wustl.edu 37 19 18377934 18377934 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 18377934 18377934 C T SNP KIAA1683 ENST00000392413 human ensembl 70_37 -1 known missense c.416 p.R139H 0.145 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors KIAA1683 HGNC KIAA2026 158358 genome.wustl.edu 37 9 5923119 5923119 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 5923119 5923119 C G SNP KIAA2026 ENST00000399933 human ensembl 70_37 -1 novel missense c.2877 p.E959D 0.851 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC KIF1A 547 genome.wustl.edu 37 2 241689949 241689949 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 241689949 241689949 C G SNP KIF1A ENST00000498729 human ensembl 70_37 -1 known silent c.2874 p.L958 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 KIF1C 10749 genome.wustl.edu 37 17 4925560 4925560 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 4925560 4925560 C T SNP KIF1C ENST00000320785 human ensembl 70_37 +1 known silent c.2184 p.I728 1.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1C HGNC KIF21A 55605 genome.wustl.edu 37 12 39716558 39716558 + Missense_Mutation SNP T T A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 39716558 39716558 T A SNP KIF21A ENST00000395670 human ensembl 70_37 -1 known missense c.3583 p.I1195F 0.904 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC KIF21A 55605 genome.wustl.edu 37 12 39716559 39716559 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 39716559 39716559 C G SNP KIF21A ENST00000395670 human ensembl 70_37 -1 known missense c.3582 p.E1194D 0.910 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC KIF3A 11127 genome.wustl.edu 37 5 132044647 132044647 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 132044647 132044647 C T SNP KIF3A ENST00000403231 human ensembl 70_37 -1 novel missense c.1252 p.D418N 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3A HGNC KIF6 221458 genome.wustl.edu 37 6 39563909 39563909 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 39563909 39563909 C T SNP KIF6 ENST00000287152 human ensembl 70_37 -1 known missense c.767 p.R256Q 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF6 HGNC KLHDC3 116138 genome.wustl.edu 37 6 42986399 42986399 + Silent SNP T T C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 42986399 42986399 T C SNP KLHDC3 ENST00000326974 human ensembl 70_37 +1 known silent c.762 p.F254 1.000 pfam_Kelch_1 pfam_Kelch_2,pfam_Kelch_1 - no_errors KLHDC3 HGNC KLHL4 56062 genome.wustl.edu 37 X 86873003 86873003 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 86873003 86873003 C G SNP KLHL4 ENST00000373114 human ensembl 70_37 +1 known missense c.796 p.Q266E 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_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,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC KNTC1 9735 genome.wustl.edu 37 12 123069534 123069534 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 123069534 123069534 G T SNP KNTC1 ENST00000333479 human ensembl 70_37 +1 known missense c.3531 p.M1177I 1.000 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC KRBA1 84626 genome.wustl.edu 37 7 149430667 149430667 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 149430667 149430667 G A SNP KRBA1 ENST00000255992 human ensembl 70_37 +1 known nonsense c.2621 p.W874* 0.985 NULL NULL - no_errors KRBA1 HGNC KRT20 54474 genome.wustl.edu 37 17 39041320 39041320 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 39041320 39041320 C T SNP KRT20 ENST00000167588 human ensembl 70_37 -1 known missense c.118 p.G40R 1.000 NULL pfam_F,prints_Keratin_I - no_errors KRT20 HGNC KRT32 3882 genome.wustl.edu 37 17 39623157 39623157 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 39623157 39623157 G C SNP KRT32 ENST00000225899 human ensembl 70_37 -1 known missense c.421 p.P141A 0.232 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT32 HGNC KRT86 3892 genome.wustl.edu 37 12 52695763 52695763 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 52695763 52695763 G C SNP KRT86 ENST00000293525 human ensembl 70_37 +1 known silent c.63 p.R21 0.902 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT86 Uniprot_genename KRTAP10-4 386672 genome.wustl.edu 37 21 45994648 45994648 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 21 45994648 45994648 C G SNP KRTAP10-4 ENST00000400374 human ensembl 70_37 +1 known nonsense c.1013 p.S338* 0.000 NULL NULL - no_errors KRTAP10-4 HGNC LARP1 23367 genome.wustl.edu 37 5 154191164 154191164 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 154191164 154191164 C T SNP LARP1 ENST00000336314 human ensembl 70_37 +1 known silent c.2814 p.L938 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC LCT 3938 genome.wustl.edu 37 2 136547286 136547286 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 136547286 136547286 C T SNP LCT ENST00000264162 human ensembl 70_37 -1 known silent c.5418 p.E1806 0.998 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC LENG9 94059 genome.wustl.edu 37 19 54974291 54974291 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 54974291 54974291 G A SNP LENG9 ENST00000333834 human ensembl 70_37 -1 known missense c.485 p.S162L 1.000 NULL superfamily_RNA_ligase/cNuc_Pdiesterase,smart_Znf_CCCH - no_errors LENG9 HGNC LEPR 3953 genome.wustl.edu 37 1 66036294 66036294 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 66036294 66036294 C G SNP LEPR ENST00000349533 human ensembl 70_37 +1 known missense c.179 p.S60W 0.000 NULL pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LEPR HGNC LGALS3BP 3959 genome.wustl.edu 37 17 76969269 76969269 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 76969269 76969269 C T SNP LGALS3BP ENST00000262776 human ensembl 70_37 -1 known missense c.412 p.E138K 0.245 superfamily_BTB/POZ_fold pfam_Srcr_rcpt,pfam_BACK,superfamily_Srcr_rcpt-rel,superfamily_BTB/POZ_fold,smart_Srcr_rcpt-rel,smart_BACK,pfscan_BTB/POZ-like,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors LGALS3BP HGNC LGR4 55366 genome.wustl.edu 37 11 27395587 27395587 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 27395587 27395587 C T SNP LGR4 ENST00000379214 human ensembl 70_37 -1 known silent c.1188 p.L396 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn - no_errors LGR4 HGNC LILRB2 10288 genome.wustl.edu 37 19 54783860 54783860 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 54783860 54783860 G C SNP LILRB2 ENST00000391749 human ensembl 70_37 -1 known silent c.141 p.L47 0.038 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LILRB2 HGNC LIMD1 8994 genome.wustl.edu 37 3 45715872 45715872 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 45715872 45715872 G C SNP LIMD1 ENST00000273317 human ensembl 70_37 +1 known missense c.1862 p.R621T 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMD1 HGNC LIMK1 3984 genome.wustl.edu 37 7 73500115 73500115 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 73500115 73500115 G A SNP LIMK1 ENST00000336180 human ensembl 70_37 +1 known silent c.93 p.R31 0.998 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK1 HGNC LINC00471 151477 genome.wustl.edu 37 2 232373658 232373658 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 232373658 232373658 C T SNP LINC00471 ENST00000313064 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00471 HGNC LINC00610 399879 genome.wustl.edu 37 11 36293275 36293275 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 36293275 36293275 C T SNP LINC00610 ENST00000355500 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00610 HGNC LINC00665 100506930 genome.wustl.edu 37 19 36821288 36821288 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 36821288 36821288 C G SNP LINC00665 ENST00000412740 human ensembl 70_37 -1 known rna NULL NULL 0.220 - - - no_errors LINC00665 HGNC LIPG 9388 genome.wustl.edu 37 18 47093845 47093845 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 18 47093845 47093845 C G SNP LIPG ENST00000261292 human ensembl 70_37 +1 known missense c.313 p.L105V 1.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipo_Lipase pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase,prints_Lipo_Lipase,prints_Lipase_hep - no_errors LIPG HGNC LIX1 167410 genome.wustl.edu 37 5 96443085 96443085 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 96443085 96443085 C T SNP LIX1 ENST00000274382 human ensembl 70_37 -1 known silent c.366 p.Q122 1.000 NULL NULL - no_errors LIX1 HGNC LLGL2 3993 genome.wustl.edu 37 17 73559502 73559502 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 73559502 73559502 G A SNP LLGL2 ENST00000392550 human ensembl 70_37 +1 known missense c.784 p.E262K 0.725 superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL2 HGNC LMCD1 29995 genome.wustl.edu 37 3 8590398 8590398 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 8590398 8590398 G C SNP LMCD1 ENST00000157600 human ensembl 70_37 +1 known missense c.532 p.E178Q 1.000 pfam_PET_domain pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMCD1 HGNC LMNB2 84823 genome.wustl.edu 37 19 2434313 2434313 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 2434313 2434313 G A SNP LMNB2 ENST00000325327 human ensembl 70_37 -1 known silent c.1182 p.L394 0.876 pfam_F pfam_F,pfam_Lamin_tail_dom,superfamily_Prefoldin - no_errors LMNB2 HGNC LOC100049716 100049716 genome.wustl.edu 37 12 752874 752874 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 752874 752874 C T SNP LOC100049716 ENST00000318291 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-218M22.1 Clone_based_vega_gene LOC100272228 100272228 genome.wustl.edu 37 X 149114055 149114055 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 149114055 149114055 C T SNP LOC100272228 ENST00000450989 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP13-507I23.1 Clone_based_vega_gene LOC100288122 100288122 genome.wustl.edu 37 18 13423629 13423629 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 18 13423629 13423629 C G SNP LOC100288122 ENST00000588672 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-691H4.1 Clone_based_vega_gene LOC100508383 100508383 genome.wustl.edu 37 3 184144484 184144484 + Silent SNP T T C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 184144484 184144484 T C SNP LOC100508383 ENST00000419960 human ensembl 70_37 +1 putative silent c.147 p.P49 0.000 NULL NULL - no_errors RP11-433C9.2 Clone_based_vega_gene LOC101060626 101060626 genome.wustl.edu 37 8 142257 142257 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 142257 142257 G T SNP LOC101060626 ENST00000523795 human ensembl 70_37 -1 known missense c.184 p.P62T 0.046 NULL NULL - no_errors RP11-585F1.10 Clone_based_vega_gene LOC284788 284788 genome.wustl.edu 37 20 22381413 22381413 + RNA SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 22381413 22381413 G T SNP LOC284788 ENST00000377121 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP5-1004I9.1 Clone_based_vega_gene LOC440518 440518 genome.wustl.edu 37 19 22782543 22782543 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 22782543 22782543 G C SNP LOC440518 ENST00000600260 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors CTC-457E21.3 Clone_based_vega_gene LOC646278 646278 genome.wustl.edu 37 15 29061903 29061903 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 29061903 29061903 C G SNP LOC646278 ENST00000563202 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors RP11-578F21.12 Clone_based_vega_gene LPCAT3 10162 genome.wustl.edu 37 12 7086371 7086371 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 7086371 7086371 G A SNP LPCAT3 ENST00000261407 human ensembl 70_37 -1 known silent c.1401 p.F467 0.038 NULL pfam_MBOAT_fam - no_errors LPCAT3 HGNC LPGAT1 9926 genome.wustl.edu 37 1 211966659 211966659 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 211966659 211966659 G C SNP LPGAT1 ENST00000498690 human ensembl 70_37 -1 putative rna NULL NULL 0.001 - - - no_errors LPGAT1 HGNC LPHN1 22859 genome.wustl.edu 37 19 14266174 14266174 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 14266174 14266174 C T SNP LPHN1 ENST00000340736 human ensembl 70_37 -1 known silent c.3306 p.K1102 1.000 prints_GPCR_2_latrophilin 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 LPHN2 23266 genome.wustl.edu 37 1 82372833 82372833 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 82372833 82372833 G A SNP LPHN2 ENST00000370717 human ensembl 70_37 +1 known missense c.205 p.D69N 1.000 pfam_Lectin_gal-bd_dom,pfscan_Lectin_gal-bd_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 LPHN2 HGNC LRP2 4036 genome.wustl.edu 37 2 170097642 170097642 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 170097642 170097642 C T SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known missense c.3901 p.D1301N 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,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,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 LRP2 HGNC LRRC23 10233 genome.wustl.edu 37 12 7022060 7022060 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 7022060 7022060 G A SNP LRRC23 ENST00000007969 human ensembl 70_37 +1 known missense c.925 p.E309K 1.000 NULL pfam_Leu-rich_rpt - no_errors LRRC23 HGNC LRRC25 126364 genome.wustl.edu 37 19 18507683 18507683 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 18507683 18507683 C T SNP LRRC25 ENST00000339007 human ensembl 70_37 -1 known missense c.91 p.D31N 0.000 NULL NULL - no_errors LRRC25 HGNC LRRC34 151827 genome.wustl.edu 37 3 169514687 169514687 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 169514687 169514687 C T SNP LRRC34 ENST00000446859 human ensembl 70_37 -1 known missense c.754 p.E252K 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC34 HGNC LRRC41 10489 genome.wustl.edu 37 1 46746968 46746968 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 46746968 46746968 C T SNP LRRC41 ENST00000343304 human ensembl 70_37 -1 known missense c.1585 p.D529N 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC LRRC49 54839 genome.wustl.edu 37 15 71211448 71211448 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 71211448 71211448 G C SNP LRRC49 ENST00000260382 human ensembl 70_37 +1 known missense c.627 p.R209S 0.981 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC49 HGNC LRRC4B 94030 genome.wustl.edu 37 19 51022460 51022460 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 51022460 51022460 G A SNP LRRC4B ENST00000389201 human ensembl 70_37 -1 known silent c.510 p.I170 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,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 LRRC4B HGNC LRRC8C 84230 genome.wustl.edu 37 1 90152110 90152110 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 90152110 90152110 G C SNP LRRC8C ENST00000370454 human ensembl 70_37 +1 known silent c.78 p.V26 1.000 pfam_LRR_protein-8_N pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8C HGNC LRTM2 654429 genome.wustl.edu 37 12 1940449 1940449 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 1940449 1940449 C T SNP LRTM2 ENST00000299194 human ensembl 70_37 +1 known missense c.416 p.S139L 0.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM2 HGNC LRTOMT 220074 genome.wustl.edu 37 11 71819761 71819761 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 71819761 71819761 G A SNP LRTOMT ENST00000307198 human ensembl 70_37 +1 known silent c.666 p.L222 0.990 pfam_O-MeTrfase_3 pfam_O-MeTrfase_3 - no_errors LRTOMT HGNC LUC7L3 51747 genome.wustl.edu 37 17 48828531 48828531 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 48828531 48828531 C G SNP LUC7L3 ENST00000503798 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors LUC7L3 HGNC LYST 1130 genome.wustl.edu 37 1 235964185 235964185 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 235964185 235964185 G C SNP LYST ENST00000389793 human ensembl 70_37 -1 known missense c.3925 p.L1309V 0.995 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC LYST 1130 genome.wustl.edu 37 1 235964366 235964366 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 235964366 235964366 G A SNP LYST ENST00000389793 human ensembl 70_37 -1 known silent c.3744 p.F1248 0.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC MACF1 23499 genome.wustl.edu 37 1 39751356 39751356 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 39751356 39751356 C G SNP MACF1 ENST00000317713 human ensembl 70_37 +1 known silent c.1449 p.L483 0.996 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC MAGEC1 9947 genome.wustl.edu 37 X 140994539 140994539 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 140994539 140994539 C G SNP MAGEC1 ENST00000285879 human ensembl 70_37 +1 known missense c.1349 p.S450C 0.031 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC MAGED1 9500 genome.wustl.edu 37 X 51639896 51639896 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 51639896 51639896 C G SNP MAGED1 ENST00000375695 human ensembl 70_37 +1 known missense c.1313 p.T438S 0.001 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGED1 HGNC MAGED1 9500 genome.wustl.edu 37 X 51644958 51644958 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 51644958 51644958 C T SNP MAGED1 ENST00000375695 human ensembl 70_37 +1 known missense c.2437 p.P813S 0.774 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGED1 HGNC MAMDC2 256691 genome.wustl.edu 37 9 72741174 72741174 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 72741174 72741174 C G SNP MAMDC2 ENST00000377182 human ensembl 70_37 +1 known nonsense c.743 p.S248* 0.993 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom - no_errors MAMDC2 HGNC MAN1B1 11253 genome.wustl.edu 37 9 139998618 139998618 + RNA SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 139998618 139998618 C A SNP MAN1B1 ENST00000540391 human ensembl 70_37 +1 known rna NULL NULL 0.621 - - - no_errors MAN1B1 HGNC MAP1B 4131 genome.wustl.edu 37 5 71490611 71490611 + Missense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 71490611 71490611 C A SNP MAP1B ENST00000296755 human ensembl 70_37 +1 known missense c.1429 p.P477T 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC MAP1B 4131 genome.wustl.edu 37 5 71490899 71490899 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 71490899 71490899 C G SNP MAP1B ENST00000296755 human ensembl 70_37 +1 known missense c.1717 p.H573D 0.749 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC MAP1B 4131 genome.wustl.edu 37 5 71491642 71491642 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 71491642 71491642 C T SNP MAP1B ENST00000296755 human ensembl 70_37 +1 known silent c.2460 p.A820 0.941 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC MAP3K2 10746 genome.wustl.edu 37 2 128088060 128088060 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 128088060 128088060 G A SNP MAP3K2 ENST00000344908 human ensembl 70_37 -1 known nonsense c.286 p.Q96* 1.000 pfam_OPR_PB1,smart_OPR_PB1 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K2 HGNC MAP3K5 4217 genome.wustl.edu 37 6 136923055 136923055 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 136923055 136923055 G C SNP MAP3K5 ENST00000359015 human ensembl 70_37 -1 known missense c.2742 p.F914L 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,superfamily_SAM/pointed,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 MAP3K5 HGNC MAP4K1 11184 genome.wustl.edu 37 19 39086603 39086603 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 39086603 39086603 C G SNP MAP4K1 ENST00000591517 human ensembl 70_37 -1 known missense c.2155 p.D719H 0.996 pfam_Citron,smart_Citron pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP4K1 HGNC MAP4K2 5871 genome.wustl.edu 37 11 64567650 64567650 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 64567650 64567650 G A SNP MAP4K2 ENST00000294066 human ensembl 70_37 -1 known silent c.846 p.L282 0.996 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MAP4K2 HGNC MAP7D3 79649 genome.wustl.edu 37 X 135323395 135323395 + Missense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 135323395 135323395 C A SNP MAP7D3 ENST00000370663 human ensembl 70_37 -1 known missense c.405 p.R135S 0.009 NULL pfam_E-MAP-115 - no_errors MAP7D3 HGNC MAPK15 225689 genome.wustl.edu 37 8 144801298 144801298 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 144801298 144801298 G T SNP MAPK15 ENST00000338033 human ensembl 70_37 +1 known missense c.553 p.A185S 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 MAPK15 HGNC MAPK15 225689 genome.wustl.edu 37 8 144801299 144801299 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 144801299 144801299 C T SNP MAPK15 ENST00000338033 human ensembl 70_37 +1 known missense c.554 p.A185V 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 MAPK15 HGNC MARS 4141 genome.wustl.edu 37 12 57906742 57906742 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 57906742 57906742 C T SNP MARS ENST00000262027 human ensembl 70_37 +1 known silent c.1962 p.I654 1.000 pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS HGNC MASP2 10747 genome.wustl.edu 37 1 11107058 11107058 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 11107058 11107058 C T SNP MASP2 ENST00000400897 human ensembl 70_37 -1 known missense c.124 p.D42N 0.268 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors MASP2 HGNC MAST1 22983 genome.wustl.edu 37 19 12958772 12958772 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 12958772 12958772 C G SNP MAST1 ENST00000251472 human ensembl 70_37 +1 known missense c.675 p.I225M 1.000 pfam_MA_Ser/Thr_Kinase_dom,superfamily_MAST_pre-PK_dom 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 MAST1 HGNC MC3R 4159 genome.wustl.edu 37 20 54824520 54824520 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 54824520 54824520 C T SNP MC3R ENST00000243911 human ensembl 70_37 +1 known silent c.621 p.Y207 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_3_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC3R HGNC MDC1 9656 genome.wustl.edu 37 6 30681690 30681690 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 30681690 30681690 G C SNP MDC1 ENST00000376406 human ensembl 70_37 -1 known missense c.407 p.S136C 0.013 superfamily_SMAD_FHA_domain pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC MDH1 4190 genome.wustl.edu 37 2 63833082 63833082 + Frame_Shift_Del DEL G G - TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 63833082 63833082 G - DEL MDH1 ENST00000539945 human ensembl 70_37 +1 known frame_shift_del c.853 p.V285fs 1.000 pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_NAD-dep_euk,tigrfam_Malate_DH_type2 pfam_Lactate/malate_DH_C,pfam_Lactate/malate_DH_N,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_NAD-dep_euk,tigrfam_Malate_DH_type2 - no_errors MDH1 HGNC MDN1 23195 genome.wustl.edu 37 6 90354840 90354840 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 90354840 90354840 C T SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.16496 p.R5499Q 0.996 smart_VWF_A,pirsf_Midasin,pfscan_VWF_A 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 MDP1 145553 genome.wustl.edu 37 14 24684984 24684984 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 24684984 24684984 G A SNP MDP1 ENST00000288087 human ensembl 70_37 -1 known silent c.57 p.F19 1.000 pfam_NIF,superfamily_HAD-like_dom,tigrfam_MDP_1_eu_arc,tigrfam_HAD_SF_ppase_IIIC pfam_NIF,superfamily_HAD-like_dom,tigrfam_MDP_1_eu_arc,tigrfam_HAD_SF_ppase_IIIC - no_errors MDP1 HGNC MED1 5469 genome.wustl.edu 37 17 37566171 37566171 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 37566171 37566171 C T SNP MED1 ENST00000300651 human ensembl 70_37 -1 known missense c.2303 p.R768Q 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC MED1 5469 genome.wustl.edu 37 17 37566301 37566301 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 37566301 37566301 C T SNP MED1 ENST00000300651 human ensembl 70_37 -1 known missense c.2173 p.D725N 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC MED1 5469 genome.wustl.edu 37 17 37566664 37566664 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 37566664 37566664 G C SNP MED1 ENST00000300651 human ensembl 70_37 -1 known missense c.1810 p.L604V 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC MED1 5469 genome.wustl.edu 37 17 37566950 37566950 + Missense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 37566950 37566950 C A SNP MED1 ENST00000300651 human ensembl 70_37 -1 known missense c.1524 p.M508I 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC MED12 9968 genome.wustl.edu 37 X 70341573 70341573 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 70341573 70341573 C G SNP MED12 ENST00000333646 human ensembl 70_37 +1 known silent c.1008 p.P336 0.819 pfam_Mediator_Med12_LCEWAV pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC MED14 9282 genome.wustl.edu 37 X 40541888 40541888 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 40541888 40541888 C G SNP MED14 ENST00000324817 human ensembl 70_37 -1 known missense c.2332 p.E778Q 1.000 NULL pfam_Mediator_Med14 - no_errors MED14 HGNC MEF2A 4205 genome.wustl.edu 37 15 100230473 100230473 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 100230473 100230473 C T SNP MEF2A ENST00000338042 human ensembl 70_37 +1 known missense c.698 p.S233F 1.000 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2A HGNC MEI1 150365 genome.wustl.edu 37 22 42159295 42159295 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 42159295 42159295 C G SNP MEI1 ENST00000401548 human ensembl 70_37 +1 known missense c.2238 p.I746M 0.259 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MEI1 HGNC MEPE 56955 genome.wustl.edu 37 4 88766903 88766903 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 88766903 88766903 C T SNP MEPE ENST00000361056 human ensembl 70_37 +1 known missense c.883 p.H295Y 0.000 NULL pfam_Osteoregulin - no_errors MEPE HGNC MINK1 50488 genome.wustl.edu 37 17 4799783 4799783 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 4799783 4799783 G A SNP MINK1 ENST00000355280 human ensembl 70_37 +1 known silent c.3675 p.E1225 1.000 pfam_Citron,smart_Citron pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MINK1 HGNC MIR3142 100422938 genome.wustl.edu 37 5 159901453 159901453 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 159901453 159901453 C G SNP MIR3142 ENST00000582487 human ensembl 70_37 +1 known rna NULL NULL 0.698 - - - no_errors MIR3142 HGNC MIR490 574443 genome.wustl.edu 37 7 136588013 136588013 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 136588013 136588013 G A SNP MIR490 ENST00000384865 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR490 HGNC MKI67 4288 genome.wustl.edu 37 10 129905148 129905148 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 129905148 129905148 G C SNP MKI67 ENST00000368654 human ensembl 70_37 -1 known silent c.4956 p.L1652 0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC MKRN2 23609 genome.wustl.edu 37 3 12623441 12623441 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 12623441 12623441 G T SNP MKRN2 ENST00000170447 human ensembl 70_37 +1 known missense c.1103 p.G368V 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN2 HGNC MLLT4-AS1 653483 genome.wustl.edu 37 6 168227370 168227370 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 168227370 168227370 C T SNP MLLT4-AS1 ENST00000359760 human ensembl 70_37 -1 known rna NULL NULL 0.949 - - - no_errors MLLT4-AS1 HGNC MMP19 4327 genome.wustl.edu 37 12 56234954 56234954 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 56234954 56234954 C T SNP MMP19 ENST00000322569 human ensembl 70_37 -1 known missense c.240 p.M80I 1.000 pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,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 MMP19 HGNC MMP2 4313 genome.wustl.edu 37 16 55527078 55527078 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 55527078 55527078 C G SNP MMP2 ENST00000219070 human ensembl 70_37 +1 known missense c.1345 p.P449A 0.367 NULL pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin - no_errors MMP2 HGNC MOB3C 148932 genome.wustl.edu 37 1 47078756 47078756 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 47078756 47078756 C T SNP MOB3C ENST00000271139 human ensembl 70_37 -1 known missense c.394 p.E132K 1.000 pfam_Mob1_phocein,superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB3C HGNC MOCS1 4337 genome.wustl.edu 37 6 39874294 39874294 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 39874294 39874294 G A SNP MOCS1 ENST00000340692 human ensembl 70_37 -1 known missense c.1750 p.R584W 0.306 pfam_Mopterin_CF_biosynth-C_dom,superfamily_Mopterin_CF_biosynth-C_dom,tigrfam_Mo_CF_biosynth-C pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C - no_errors MOCS1 HGNC MORC1 27136 genome.wustl.edu 37 3 108751580 108751580 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 108751580 108751580 G T SNP MORC1 ENST00000232603 human ensembl 70_37 -1 known missense c.1552 p.R518S 0.579 pfam_Znf_CW,pfscan_Znf_CW pfam_Znf_CW,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC MOV10L1 54456 genome.wustl.edu 37 22 50599221 50599221 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 50599221 50599221 G A SNP MOV10L1 ENST00000262794 human ensembl 70_37 +1 known silent c.3429 p.L1143 1.000 NULL superfamily_NA-bd_OB-fold-like - no_errors MOV10L1 HGNC MPDZ 8777 genome.wustl.edu 37 9 13223683 13223683 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 13223683 13223683 G A SNP MPDZ ENST00000319217 human ensembl 70_37 -1 known silent c.420 p.L140 1.000 superfamily_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC MPZ 4359 genome.wustl.edu 37 1 161277055 161277055 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 161277055 161277055 G A SNP MPZ ENST00000360451 human ensembl 70_37 -1 known missense c.257 p.A86V 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Myelin_P0 pfam_Myelin-PO_C,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Myelin_P0 - no_errors MPZ HGNC MRPL23-AS1 100133545 genome.wustl.edu 37 11 2005759 2005759 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 2005759 2005759 C T SNP MRPL23-AS1 ENST00000419080 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MRPL23-AS1 HGNC MRPL49 740 genome.wustl.edu 37 11 64889736 64889736 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 64889736 64889736 G A SNP MRPL49 ENST00000524482 human ensembl 70_37 +1 known rna NULL NULL 0.684 - - - no_errors MRPL49 HGNC MT-ND4L 4539 genome.wustl.edu 37 MT 10591 10591 + Missense_Mutation SNP T T C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 MT 10591 10591 T C SNP MT-ND4L ENST00000361335 human ensembl 70_37 +1 known missense c.122 p.F41S NULL pfam_NADH_UbQ_OxRdtase_chain4L/K pfam_NADH_UbQ_OxRdtase_chain4L/K - no_errors MT-ND4L HGNC MTF1 4520 genome.wustl.edu 37 1 38289467 38289467 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 38289467 38289467 G C SNP MTF1 ENST00000373036 human ensembl 70_37 -1 known silent c.1086 p.L362 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MTF1 HGNC MTMR4 9110 genome.wustl.edu 37 17 56581221 56581221 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 56581221 56581221 G A SNP MTMR4 ENST00000323456 human ensembl 70_37 -1 known silent c.1695 p.L565 1.000 NULL pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-specificity_Pase - no_errors MTMR4 HGNC MTNR1B 4544 genome.wustl.edu 37 11 92714991 92714991 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 92714991 92714991 C T SNP MTNR1B ENST00000257068 human ensembl 70_37 +1 known missense c.602 p.T201M 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Mel_1A_rcpt - no_errors MTNR1B HGNC MUC16 94025 genome.wustl.edu 37 19 9076110 9076110 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 9076110 9076110 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.11336 p.S3779F 0.001 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC2 4583 genome.wustl.edu 37 11 1104215 1104215 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 1104215 1104215 C T SNP MUC2 ENST00000441003 human ensembl 70_37 +1 known silent c.8406 p.G2802 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC MUC4 4585 genome.wustl.edu 37 3 195509858 195509858 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 195509858 195509858 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.8593 p.L2865V 0.867 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 195511679 195511679 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 195511679 195511679 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.6772 p.P2258S 0.009 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC4 4585 genome.wustl.edu 37 3 195511990 195511990 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 195511990 195511990 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.6461 p.S2154C 0.986 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 MXRA5 25878 genome.wustl.edu 37 X 3239578 3239578 + Nonsense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 3239578 3239578 G C SNP MXRA5 ENST00000217939 human ensembl 70_37 -1 known nonsense c.4148 p.S1383* 0.001 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC MYH14 79784 genome.wustl.edu 37 19 50758564 50758564 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 50758564 50758564 C T SNP MYH14 ENST00000262269 human ensembl 70_37 +1 known missense c.2033 p.S678F 0.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,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 MYH14 HGNC MYH9 4627 genome.wustl.edu 37 22 36691588 36691588 + Missense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 36691588 36691588 C A SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known missense c.3448 p.D1150Y 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,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 MYH9 HGNC MYH9 4627 genome.wustl.edu 37 22 36691764 36691764 + Splice_Site SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 36691764 36691764 C T SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known splice_site c.3273-1 e25-1 1.000 - - - no_errors MYH9 HGNC MYH9 4627 genome.wustl.edu 37 22 36696217 36696217 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 36696217 36696217 C G SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known missense c.2932 p.E978Q 1.000 superfamily_Prefoldin pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,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 MYH9 HGNC MYH9 4627 genome.wustl.edu 37 22 36744962 36744962 + Nonsense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 36744962 36744962 G C SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known nonsense c.320 p.S107* 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,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 MYH9 HGNC MYH9 4627 genome.wustl.edu 37 22 36745184 36745184 + Nonsense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 36745184 36745184 C T SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known nonsense c.98 p.W33* 1.000 pfam_Myosin_N,superfamily_Myosin_S1_N pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,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 MYH9 HGNC MYNN 55892 genome.wustl.edu 37 3 169492152 169492152 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 169492152 169492152 C G SNP MYNN ENST00000349841 human ensembl 70_37 +1 known silent c.69 p.L23 0.994 pfam_BTB_POZ,superfamily_BTB/POZ_fold pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors MYNN HGNC MYO10 4651 genome.wustl.edu 37 5 16711116 16711116 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 16711116 16711116 C G SNP MYO10 ENST00000513610 human ensembl 70_37 -1 known missense c.2070 p.M690I 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC MYO15B 80022 genome.wustl.edu 37 17 73585671 73585671 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 73585671 73585671 G C SNP MYO15B ENST00000578382 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MYO15B Uniprot_genename MYO1F 4542 genome.wustl.edu 37 19 8616752 8616752 + Nonsense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 8616752 8616752 C A SNP MYO1F ENST00000338257 human ensembl 70_37 -1 known nonsense c.643 p.E215* 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC MYT1L 23040 genome.wustl.edu 37 2 1820502 1820502 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 1820502 1820502 C G SNP MYT1L ENST00000471668 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors MYT1L HGNC MYT1L 23040 genome.wustl.edu 37 2 1895843 1895843 + Missense_Mutation SNP A A G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 1895843 1895843 A G SNP MYT1L ENST00000399161 human ensembl 70_37 -1 known missense c.2249 p.L750P 1.000 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC NAA15 80155 genome.wustl.edu 37 4 140272765 140272765 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 140272765 140272765 G C SNP NAA15 ENST00000296543 human ensembl 70_37 +1 known missense c.1014 p.K338N 1.000 pirsf_NatA_aux_su pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC NAA15 80155 genome.wustl.edu 37 4 140297522 140297522 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 140297522 140297522 G A SNP NAA15 ENST00000296543 human ensembl 70_37 +1 known missense c.1951 p.E651K 1.000 pfam_NatA_aux_su,pirsf_NatA_aux_su pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC NAA15 80155 genome.wustl.edu 37 4 140297537 140297537 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 140297537 140297537 G A SNP NAA15 ENST00000296543 human ensembl 70_37 +1 known missense c.1966 p.E656K 1.000 pfam_NatA_aux_su,pirsf_NatA_aux_su pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC NAA50 80218 genome.wustl.edu 37 3 113440729 113440729 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 113440729 113440729 C G SNP NAA50 ENST00000240922 human ensembl 70_37 -1 known missense c.388 p.E130Q 1.000 pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA50 HGNC NAALADL1 10004 genome.wustl.edu 37 11 64812806 64812806 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 64812806 64812806 G C SNP NAALADL1 ENST00000358658 human ensembl 70_37 -1 known silent c.2160 p.L720 1.000 pfam_TFR-like_dimer_dom,superfamily_TFR-like_dimer_dom pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALADL1 HGNC NADK 65220 genome.wustl.edu 37 1 1688672 1688672 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 1688672 1688672 C G SNP NADK ENST00000344463 human ensembl 70_37 -1 known missense c.653 p.R218T 0.906 NULL pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ - no_errors NADK HGNC NAF1 92345 genome.wustl.edu 37 4 164085493 164085493 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 164085493 164085493 G A SNP NAF1 ENST00000274054 human ensembl 70_37 -1 known missense c.416 p.S139L 0.996 NULL pfam_H/ACA_rnp_Gar1/Naf1,superfamily_Transl_elong_init/rib_B-barrel - no_errors NAF1 HGNC NAGLU 4669 genome.wustl.edu 37 17 40690485 40690485 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 40690485 40690485 C G SNP NAGLU ENST00000225927 human ensembl 70_37 +1 known missense c.660 p.I220M 1.000 pfam_NAGLU_tim-barrel,superfamily_Glycoside_hydrolase_SF pfam_NAGLU_tim-barrel,superfamily_Glycoside_hydrolase_SF - no_errors NAGLU HGNC NAGS 162417 genome.wustl.edu 37 17 42082117 42082117 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 42082117 42082117 G A SNP NAGS ENST00000293404 human ensembl 70_37 +1 known missense c.86 p.R29Q 0.593 pirsf_GlcNAc_Synth_met pfam_DUF619,superfamily_Asp/Glu/Uridylate_kinase,superfamily_Acyl_CoA_acyltransferase,pirsf_GlcNAc_Synth_met,pfscan_GNAT_dom - no_errors NAGS HGNC NAIP 4671 genome.wustl.edu 37 5 70308577 70308577 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 70308577 70308577 G A SNP NAIP ENST00000194097 human ensembl 70_37 -1 known nonsense c.166 p.Q56* 0.002 NULL pfam_BIR,smart_BIR,smart_AAA+_ATPase,pfscan_NACHT_NTPase,pfscan_BIR - no_errors NAIP HGNC NAP1L3 4675 genome.wustl.edu 37 X 92928474 92928474 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 92928474 92928474 G A SNP NAP1L3 ENST00000475430 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors NAP1L3 HGNC NAPB 63908 genome.wustl.edu 37 20 23375564 23375564 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 23375564 23375564 C G SNP NAPB ENST00000377026 human ensembl 70_37 -1 known missense c.415 p.E139Q 1.000 prints_NSF_attach prints_NSF_attach - no_errors NAPB HGNC NAPB 63908 genome.wustl.edu 37 20 23401954 23401954 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 23401954 23401954 C T SNP NAPB ENST00000377026 human ensembl 70_37 -1 known missense c.86 p.R29Q 1.000 NULL prints_NSF_attach - no_errors NAPB HGNC NAT9 26151 genome.wustl.edu 37 17 72768120 72768120 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 72768120 72768120 G T SNP NAT9 ENST00000357814 human ensembl 70_37 -1 known missense c.468 p.F156L 1.000 pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase - no_errors NAT9 HGNC NAV1 89796 genome.wustl.edu 37 1 201749586 201749586 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 201749586 201749586 G A SNP NAV1 ENST00000367296 human ensembl 70_37 +1 known missense c.1264 p.D422N 1.000 NULL smart_AAA+_ATPase - no_errors NAV1 HGNC NAV3 89795 genome.wustl.edu 37 12 78334875 78334875 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 78334875 78334875 G A SNP NAV3 ENST00000397909 human ensembl 70_37 +1 known missense c.376 p.E126K 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC NBAS 51594 genome.wustl.edu 37 2 15555687 15555687 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 15555687 15555687 G A SNP NBAS ENST00000281513 human ensembl 70_37 -1 known nonsense c.2920 p.Q974* 1.000 pfam_Sec39 pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC NBEAL1 65065 genome.wustl.edu 37 2 204000956 204000956 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 204000956 204000956 C G SNP NBEAL1 ENST00000449802 human ensembl 70_37 +1 known missense c.4283 p.S1428C 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC NBPF10 100132406 genome.wustl.edu 37 1 145326060 145326060 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 145326060 145326060 G A SNP NBPF10 ENST00000342960 human ensembl 70_37 +1 known silent c.3933 p.Q1311 0.008 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF10 HGNC NCAN 1463 genome.wustl.edu 37 19 19327807 19327807 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 19327807 19327807 G C SNP NCAN ENST00000252575 human ensembl 70_37 +1 known missense c.45 p.Q15H 0.012 NULL pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII - no_errors NCAN HGNC NCOA6 23054 genome.wustl.edu 37 20 33338291 33338291 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 33338291 33338291 C G SNP NCOA6 ENST00000359003 human ensembl 70_37 -1 known missense c.1707 p.Q569H 1.000 NULL NULL - no_errors NCOA6 HGNC NDC80 10403 genome.wustl.edu 37 18 2585130 2585130 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 18 2585130 2585130 G A SNP NDC80 ENST00000261597 human ensembl 70_37 +1 known missense c.598 p.E200K 1.000 pfam_Kinetochore_Ndc80 pfam_Kinetochore_Ndc80,superfamily_t-SNARE - no_errors NDC80 HGNC NEB 4703 genome.wustl.edu 37 2 152422319 152422319 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 152422319 152422319 C G SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.18172 p.D6058H 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC NEK4 6787 genome.wustl.edu 37 3 52775485 52775485 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 52775485 52775485 C T SNP NEK4 ENST00000233027 human ensembl 70_37 -1 known missense c.2035 p.D679N 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK4 HGNC NELL2 4753 genome.wustl.edu 37 12 45105117 45105117 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 45105117 45105117 G A SNP NELL2 ENST00000437801 human ensembl 70_37 -1 known missense c.1297 p.H433Y 1.000 NULL pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC NELL2 4753 genome.wustl.edu 37 12 45209912 45209912 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 45209912 45209912 G A SNP NELL2 ENST00000437801 human ensembl 70_37 -1 known silent c.342 p.P114 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC NEMF 9147 genome.wustl.edu 37 14 50255978 50255978 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 50255978 50255978 C G SNP NEMF ENST00000298310 human ensembl 70_37 -1 known missense c.2781 p.Q927H 1.000 NULL pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom - no_errors NEMF HGNC NEMF 9147 genome.wustl.edu 37 14 50256237 50256237 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 50256237 50256237 C T SNP NEMF ENST00000298310 human ensembl 70_37 -1 known missense c.2674 p.E892K 1.000 NULL pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom - no_errors NEMF HGNC NEMF 9147 genome.wustl.edu 37 14 50256283 50256283 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 50256283 50256283 C T SNP NEMF ENST00000298310 human ensembl 70_37 -1 known missense c.2628 p.M876I 1.000 NULL pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom - no_errors NEMF HGNC NEUROD4 58158 genome.wustl.edu 37 12 55420392 55420392 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 55420392 55420392 G C SNP NEUROD4 ENST00000242994 human ensembl 70_37 +1 known missense c.169 p.E57Q 1.000 pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_HLH_dom - no_errors NEUROD4 HGNC NFAT5 10725 genome.wustl.edu 37 16 69727884 69727884 + Nonsense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 69727884 69727884 C T SNP NFAT5 ENST00000432919 human ensembl 70_37 +1 known nonsense c.4156 p.Q1386* 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC NFAT5 10725 genome.wustl.edu 37 16 69727915 69727915 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 69727915 69727915 C T SNP NFAT5 ENST00000432919 human ensembl 70_37 +1 known missense c.4187 p.P1396L 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC NFE2L2 4780 genome.wustl.edu 37 2 178098808 178098808 + Missense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 178098808 178098808 C A SNP NFE2L2 ENST00000397062 human ensembl 70_37 -1 known missense c.237 p.E79D 0.987 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC NGRN 51335 genome.wustl.edu 37 15 90814635 90814635 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 90814635 90814635 C T SNP NGRN ENST00000379095 human ensembl 70_37 +1 known missense c.491 p.P164L 0.576 pfam_Neugrin-related pfam_Neugrin-related - no_errors NGRN HGNC NGRN 51335 genome.wustl.edu 37 15 90814647 90814647 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 90814647 90814647 C T SNP NGRN ENST00000379095 human ensembl 70_37 +1 known missense c.503 p.S168F 0.000 pfam_Neugrin-related pfam_Neugrin-related - no_errors NGRN HGNC NHS 4810 genome.wustl.edu 37 X 17744255 17744255 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 17744255 17744255 G A SNP NHS ENST00000380060 human ensembl 70_37 +1 known missense c.1966 p.E656K 1.000 NULL NULL - no_errors NHS HGNC NIM1 167359 genome.wustl.edu 37 5 43277278 43277278 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 43277278 43277278 G A SNP NIM1 ENST00000326035 human ensembl 70_37 +1 known missense c.412 p.E138K 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 NIM1 Uniprot_genename NIPBL 25836 genome.wustl.edu 37 5 36985280 36985280 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 36985280 36985280 C T SNP NIPBL ENST00000282516 human ensembl 70_37 +1 known silent c.1998 p.S666 0.657 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC NKPD1 284353 genome.wustl.edu 37 19 45657004 45657004 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 45657004 45657004 C T SNP NKPD1 ENST00000317951 human ensembl 70_37 -1 known missense c.691 p.E231K 0.434 pfam_KAP_NTPase pfam_KAP_NTPase - no_errors NKPD1 HGNC NLRP2 55655 genome.wustl.edu 37 19 55497541 55497541 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 55497541 55497541 G C SNP NLRP2 ENST00000448584 human ensembl 70_37 +1 known missense c.2224 p.D742H 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP2 HGNC NME8 51314 genome.wustl.edu 37 7 37923939 37923939 + Nonsense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 37923939 37923939 C A SNP NME8 ENST00000426106 human ensembl 70_37 +1 known nonsense c.140 p.S47* 0.991 NULL NULL - no_errors NME8 HGNC NME9 347736 genome.wustl.edu 37 3 138037001 138037001 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 138037001 138037001 G C SNP NME9 ENST00000333911 human ensembl 70_37 -1 known missense c.256 p.L86V 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase - no_errors NME9 HGNC NOD2 64127 genome.wustl.edu 37 16 50733855 50733855 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 50733855 50733855 C G SNP NOD2 ENST00000300589 human ensembl 70_37 +1 known missense c.530 p.P177R 0.295 pfam_CARD,superfamily_DEATH-like,pfscan_CARD pfam_CARD,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD2 HGNC NODAL 4838 genome.wustl.edu 37 10 72195205 72195205 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 72195205 72195205 C G SNP NODAL ENST00000287139 human ensembl 70_37 -1 known missense c.728 p.R243T 0.995 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors NODAL HGNC NOL12 79159 genome.wustl.edu 37 22 38087189 38087189 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 38087189 38087189 C T SNP NOL12 ENST00000359114 human ensembl 70_37 +1 known missense c.488 p.S163F 0.856 NULL pfam_Nucleolar_protein_12 - no_errors NOL12 HGNC NOL8 55035 genome.wustl.edu 37 9 95073484 95073484 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 95073484 95073484 C G SNP NOL8 ENST00000442668 human ensembl 70_37 -1 known missense c.2416 p.E806Q 0.999 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NOL8 HGNC NOL8 55035 genome.wustl.edu 37 9 95077640 95077640 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 95077640 95077640 G A SNP NOL8 ENST00000442668 human ensembl 70_37 -1 known missense c.1267 p.H423Y 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NOL8 HGNC NOL8 55035 genome.wustl.edu 37 9 95077645 95077645 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 95077645 95077645 G A SNP NOL8 ENST00000442668 human ensembl 70_37 -1 known missense c.1262 p.S421F 0.439 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NOL8 HGNC NOVA1 4857 genome.wustl.edu 37 14 26918136 26918136 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 26918136 26918136 G C SNP NOVA1 ENST00000539517 human ensembl 70_37 -1 known missense c.553 p.L185V 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC NPBWR2 2832 genome.wustl.edu 37 20 62737876 62737876 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 62737876 62737876 C T SNP NPBWR2 ENST00000369768 human ensembl 70_37 -1 known silent c.309 p.A103 0.431 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_W_rcpt,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_W_rcpt,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt - no_errors NPBWR2 HGNC NPC1L1 29881 genome.wustl.edu 37 7 44555783 44555783 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 44555783 44555783 G A SNP NPC1L1 ENST00000289547 human ensembl 70_37 -1 known missense c.3614 p.S1205F 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC NPIPB7 440350 genome.wustl.edu 37 16 28468242 28468242 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 28468242 28468242 G A SNP NPIPL1 ENST00000452313 human ensembl 70_37 -1 novel missense c.748 p.P250S 0.062 pfam_NPIP pfam_NPIP - no_errors NPIPL1 HGNC NR3C1 2908 genome.wustl.edu 37 5 142779923 142779923 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 142779923 142779923 G C SNP NR3C1 ENST00000231509 human ensembl 70_37 -1 known missense c.482 p.S161C 0.819 pfam_Glcrtcd_rcpt pfam_Glcrtcd_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Glcrtcd_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR3C1 HGNC NR3C1 2908 genome.wustl.edu 37 5 142780157 142780157 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 142780157 142780157 G A SNP NR3C1 ENST00000231509 human ensembl 70_37 -1 known missense c.248 p.S83L 1.000 pfam_Glcrtcd_rcpt,prints_Glcrtcd_rcpt pfam_Glcrtcd_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Glcrtcd_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR3C1 HGNC NR5A2 2494 genome.wustl.edu 37 1 200012937 200012937 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 200012937 200012937 G A SNP NR5A2 ENST00000367362 human ensembl 70_37 +1 known missense c.238 p.E80K 1.000 pirsf_Steroidogenic_factor_1 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,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR5A2 HGNC NRP1 8829 genome.wustl.edu 37 10 33483586 33483586 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 33483586 33483586 C G SNP NRP1 ENST00000466932 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors NRP1 HGNC NRSN2 80023 genome.wustl.edu 37 20 334278 334278 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 334278 334278 G A SNP NRSN2 ENST00000382285 human ensembl 70_37 +1 known silent c.614 p.*205 0.891 NULL NULL - no_errors NRSN2 HGNC NSUN2 54888 genome.wustl.edu 37 5 6632822 6632822 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 6632822 6632822 G A SNP NSUN2 ENST00000264670 human ensembl 70_37 -1 known silent c.144 p.F48 0.999 NULL pfam_Fmu/NOL1/Nop2p,prints_RCMT,prints_RCMT_NCL1 - no_errors NSUN2 HGNC NT5C 30833 genome.wustl.edu 37 17 73127279 73127279 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 73127279 73127279 G A SNP NT5C ENST00000245552 human ensembl 70_37 -1 known missense c.272 p.P91L 0.089 pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom - no_errors NT5C HGNC NT5C1A 84618 genome.wustl.edu 37 1 40125018 40125018 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 40125018 40125018 C G SNP NT5C1A ENST00000235628 human ensembl 70_37 -1 known missense c.882 p.K294N 1.000 pfam_5-nucleotidase pfam_5-nucleotidase - no_errors NT5C1A HGNC NTN4 59277 genome.wustl.edu 37 12 96131685 96131685 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 96131685 96131685 G A SNP NTN4 ENST00000343702 human ensembl 70_37 -1 known missense c.823 p.H275Y 0.004 pfam_EGF_laminin,smart_EGF_laminin pfam_Laminin_N,pfam_EGF_laminin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain - no_errors NTN4 HGNC NTN4 59277 genome.wustl.edu 37 12 96131749 96131749 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 96131749 96131749 G A SNP NTN4 ENST00000343702 human ensembl 70_37 -1 known silent c.759 p.I253 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain - no_errors NTN4 HGNC NUP155 9631 genome.wustl.edu 37 5 37302895 37302895 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 37302895 37302895 C G SNP NUP155 ENST00000231498 human ensembl 70_37 -1 known missense c.3433 p.E1145Q 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 NUP160 23279 genome.wustl.edu 37 11 47819353 47819353 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 47819353 47819353 G C SNP NUP160 ENST00000378460 human ensembl 70_37 -1 known missense c.3267 p.I1089M 1.000 NULL pfam_Nucleoporin_Nup160 - no_errors NUP160 HGNC NUP210L 91181 genome.wustl.edu 37 1 154076644 154076644 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 154076644 154076644 G A SNP NUP210L ENST00000368559 human ensembl 70_37 -1 known missense c.1663 p.H555Y 1.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC NUP214 8021 genome.wustl.edu 37 9 134053762 134053762 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 134053762 134053762 G C SNP NUP214 ENST00000451030 human ensembl 70_37 +1 known missense c.3387 p.L1129F 1.000 NULL smart_WD40_repeat - no_errors NUP214 HGNC NUP50 10762 genome.wustl.edu 37 22 45580467 45580467 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 45580467 45580467 G C SNP NUP50 ENST00000347635 human ensembl 70_37 +1 known missense c.1338 p.L446F 0.137 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_NUP2/50/61,pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors NUP50 HGNC NUP50 10762 genome.wustl.edu 37 22 45580493 45580493 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 45580493 45580493 C T SNP NUP50 ENST00000347635 human ensembl 70_37 +1 known missense c.1364 p.A455V 1.000 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_NUP2/50/61,pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors NUP50 HGNC NUP98 4928 genome.wustl.edu 37 11 3774579 3774579 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 3774579 3774579 G C SNP NUP98 ENST00000324932 human ensembl 70_37 -1 known missense c.1234 p.L412V 1.000 NULL pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC NUPL1 9818 genome.wustl.edu 37 13 25875932 25875932 + Missense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 13 25875932 25875932 C A SNP NUPL1 ENST00000381736 human ensembl 70_37 +1 known missense c.21 p.F7L 1.000 NULL NULL - no_errors NUPL1 HGNC NWD1 284434 genome.wustl.edu 37 19 16860666 16860666 + Nonsense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 16860666 16860666 C T SNP NWD1 ENST00000379808 human ensembl 70_37 +1 known nonsense c.1213 p.Q405* 0.617 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC OAS3 4940 genome.wustl.edu 37 12 113388505 113388505 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 113388505 113388505 C T SNP OAS3 ENST00000228928 human ensembl 70_37 +1 known missense c.1382 p.S461L 0.184 pfscan_2-5-oligoadenylate_synth_N pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS3 HGNC OAZ2 4947 genome.wustl.edu 37 15 64981340 64981340 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 64981340 64981340 C G SNP OAZ2 ENST00000326005 human ensembl 70_37 -1 known missense c.382 p.E128Q 1.000 pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase - no_errors OAZ2 HGNC OAZ2 4947 genome.wustl.edu 37 15 64981356 64981356 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 64981356 64981356 C T SNP OAZ2 ENST00000326005 human ensembl 70_37 -1 known silent c.366 p.L122 1.000 pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase - no_errors OAZ2 HGNC OCA2 4948 genome.wustl.edu 37 15 28202762 28202762 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 28202762 28202762 G T SNP OCA2 ENST00000354638 human ensembl 70_37 -1 known missense c.1756 p.L586I 1.000 pfam_Cit_transptr-like_dom,tigrfam_Arsenical_pump_ArsB pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC OGDHL 55753 genome.wustl.edu 37 10 50953419 50953419 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 50953419 50953419 C T SNP OGDHL ENST00000374103 human ensembl 70_37 -1 known missense c.1600 p.E534K 1.000 pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC OPRD1 4985 genome.wustl.edu 37 1 29185700 29185700 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 29185700 29185700 C G SNP OPRD1 ENST00000234961 human ensembl 70_37 +1 known silent c.462 p.V154 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_P2_purnocptor pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Delta_opi_rcpt,prints_Opioid_rcpt,prints_Neuropept_W_rcpt,prints_Somatstn_rcpt,prints_P2_purnocptor,prints_NPY_rcpt - no_errors OPRD1 HGNC OR10G7 390265 genome.wustl.edu 37 11 123909245 123909245 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 123909245 123909245 G A SNP OR10G7 ENST00000330487 human ensembl 70_37 -1 known missense c.464 p.S155F 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G7 HGNC OR10J3 441911 genome.wustl.edu 37 1 159284332 159284332 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 159284332 159284332 G C SNP OR10J3 ENST00000332217 human ensembl 70_37 -1 known missense c.118 p.L40V 0.062 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J3 HGNC OR13C2 392376 genome.wustl.edu 37 9 107366964 107366964 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 107366964 107366964 G A SNP OR13C2 ENST00000542196 human ensembl 70_37 -1 known silent c.945 p.F315 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C2 HGNC OR13C2 392376 genome.wustl.edu 37 9 107367625 107367625 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 107367625 107367625 G A SNP OR13C2 ENST00000542196 human ensembl 70_37 -1 known missense c.284 p.S95F 0.000 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 OR13C2 HGNC OR2W3 343171 genome.wustl.edu 37 1 248058947 248058947 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 248058947 248058947 G T SNP OR2W3 ENST00000360358 human ensembl 70_37 +1 known missense c.59 p.R20L 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2W3 HGNC OR4B1 119765 genome.wustl.edu 37 11 48238908 48238908 + Missense_Mutation SNP T T C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 48238908 48238908 T C SNP OR4B1 ENST00000309562 human ensembl 70_37 +1 known missense c.547 p.F183L 0.995 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 OR4B1 HGNC OR4M1 441670 genome.wustl.edu 37 14 20248702 20248702 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 20248702 20248702 C T SNP OR4M1 ENST00000315957 human ensembl 70_37 +1 known missense c.221 p.S74F 0.989 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M1 HGNC OR5H15 403274 genome.wustl.edu 37 3 97887764 97887764 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 97887764 97887764 C T SNP OR5H15 ENST00000356526 human ensembl 70_37 +1 known missense c.221 p.S74L 0.124 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H15 HGNC OR5I1 10798 genome.wustl.edu 37 11 55703784 55703784 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 55703784 55703784 G C SNP OR5I1 ENST00000301532 human ensembl 70_37 -1 known silent c.93 p.L31 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5I1 HGNC OR5R1 219479 genome.wustl.edu 37 11 56185669 56185669 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 56185669 56185669 G C SNP OR5R1 ENST00000312253 human ensembl 70_37 -1 known missense c.40 p.L14V 0.969 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5R1 HGNC OR7E14P 10819 genome.wustl.edu 37 11 17073820 17073820 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 17073820 17073820 C T SNP OR7E14P ENST00000530490 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors OR7E14P HGNC OSBP2 23762 genome.wustl.edu 37 22 31283450 31283450 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 31283450 31283450 G T SNP OSBP2 ENST00000332585 human ensembl 70_37 +1 known missense c.1145 p.S382I 1.000 superfamily_DNA-bd_dom_put pfam_Oxysterol-bd,pfam_Pleckstrin_homology,superfamily_DNA-bd_dom_put,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP2 HGNC OSBPL11 114885 genome.wustl.edu 37 3 125257330 125257330 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 125257330 125257330 C T SNP OSBPL11 ENST00000296220 human ensembl 70_37 -1 known silent c.1989 p.V663 0.557 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL11 HGNC OSBPL11 114885 genome.wustl.edu 37 3 125295085 125295085 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 125295085 125295085 G A SNP OSBPL11 ENST00000296220 human ensembl 70_37 -1 known missense c.614 p.S205L 0.483 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL11 HGNC OTC 5009 genome.wustl.edu 37 X 38211866 38211866 + RNA SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 38211866 38211866 C A SNP OTC ENST00000488812 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors OTC HGNC OTOA 146183 genome.wustl.edu 37 16 21721247 21721247 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 21721247 21721247 G A SNP OTOA ENST00000286149 human ensembl 70_37 +1 known silent c.1185 p.Q395 1.000 NULL NULL - no_errors OTOA HGNC PABPC1L 80336 genome.wustl.edu 37 20 43565406 43565406 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 43565406 43565406 G C SNP PABPC1L ENST00000465761 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors PABPC1L HGNC PACS1 55690 genome.wustl.edu 37 11 65984233 65984233 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 65984233 65984233 C T SNP PACS1 ENST00000320580 human ensembl 70_37 +1 known missense c.965 p.S322F 0.993 NULL pfam_Phosphofurin_acidic_CS-1 - no_errors PACS1 HGNC PADI3 51702 genome.wustl.edu 37 1 17601261 17601261 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 17601261 17601261 C T SNP PADI3 ENST00000375460 human ensembl 70_37 +1 known silent c.1287 p.L429 1.000 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI3 HGNC PADI4 23569 genome.wustl.edu 37 1 17681089 17681089 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 17681089 17681089 C T SNP PADI4 ENST00000375448 human ensembl 70_37 +1 known missense c.1217 p.S406F 0.998 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI4 HGNC PADI4 23569 genome.wustl.edu 37 1 17681157 17681157 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 17681157 17681157 C G SNP PADI4 ENST00000375448 human ensembl 70_37 +1 known missense c.1285 p.L429V 1.000 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI4 HGNC PALMD 54873 genome.wustl.edu 37 1 100152712 100152712 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 100152712 100152712 G A SNP PALMD ENST00000263174 human ensembl 70_37 +1 known missense c.481 p.E161K 0.997 pfam_Paralemmin pfam_Paralemmin - no_errors PALMD HGNC PAN2 9924 genome.wustl.edu 37 12 56718400 56718400 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 56718400 56718400 G A SNP PAN2 ENST00000425394 human ensembl 70_37 -1 known missense c.1693 p.H565Y 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19 - no_errors PAN2 HGNC PARD3 56288 genome.wustl.edu 37 10 34805961 34805961 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 34805961 34805961 G A SNP PARD3 ENST00000374789 human ensembl 70_37 -1 known nonsense c.349 p.Q117* 1.000 pfam_DUF3534 pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC PARPBP 55010 genome.wustl.edu 37 12 102558365 102558366 + Frame_Shift_Ins INS - - A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 102558365 102558366 - A INS PARPBP ENST00000358383 human ensembl 70_37 +1 known frame_shift_ins c.645_646 p.Q216fs 1.000:1.000 NULL NULL - no_errors PARPBP HGNC PATE3 100169851 genome.wustl.edu 37 11 125660381 125660381 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 125660381 125660381 C T SNP PATE3 ENST00000445202 human ensembl 70_37 +1 known missense c.181 p.L61F 0.008 NULL NULL - no_errors PATE3 HGNC PCDHA8 56140 genome.wustl.edu 37 5 140222207 140222207 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 140222207 140222207 C T SNP PCDHA8 ENST00000531613 human ensembl 70_37 +1 known missense c.1301 p.S434L 0.216 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA8 HGNC PCDHAC2 56134 genome.wustl.edu 37 5 140347080 140347080 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 140347080 140347080 C T SNP PCDHAC2 ENST00000289269 human ensembl 70_37 +1 known silent c.729 p.I243 0.967 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC2 HGNC PCDHB11 56125 genome.wustl.edu 37 5 140580141 140580141 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 140580141 140580141 C T SNP PCDHB11 ENST00000354757 human ensembl 70_37 +1 known missense c.794 p.S265L 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB11 HGNC PCDHGA7 56108 genome.wustl.edu 37 5 140762733 140762733 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 140762733 140762733 G C SNP PCDHGA7 ENST00000518325 human ensembl 70_37 +1 known missense c.267 p.R89S 0.981 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC PCDHGB1 56104 genome.wustl.edu 37 5 140731523 140731523 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 140731523 140731523 G A SNP PCDHGB1 ENST00000523390 human ensembl 70_37 +1 known missense c.1696 p.D566N 1.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC PCF11 51585 genome.wustl.edu 37 11 82879939 82879939 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 82879939 82879939 G C SNP PCF11 ENST00000298281 human ensembl 70_37 +1 known silent c.2562 p.L854 0.998 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD - no_errors PCF11 HGNC PCNT 5116 genome.wustl.edu 37 21 47860893 47860893 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 21 47860893 47860893 G A SNP PCNT ENST00000359568 human ensembl 70_37 +1 known missense c.9519 p.M3173I 1.000 pfam_PACT_domain pfam_PACT_domain - no_errors PCNT HGNC PDGFRL 5157 genome.wustl.edu 37 8 17447122 17447122 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 17447122 17447122 C T SNP PDGFRL ENST00000251630 human ensembl 70_37 +1 known silent c.201 p.I67 0.994 pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PDGFRL HGNC PEAR1 375033 genome.wustl.edu 37 1 156884502 156884502 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 156884502 156884502 C G SNP PEAR1 ENST00000292357 human ensembl 70_37 +1 known nonsense c.3026 p.S1009* 0.994 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors PEAR1 HGNC PEX5L 51555 genome.wustl.edu 37 3 179576852 179576852 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 179576852 179576852 C G SNP PEX5L ENST00000467460 human ensembl 70_37 -1 known missense c.820 p.E274Q 1.000 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5L HGNC PFKFB1 5207 genome.wustl.edu 37 X 54984742 54984742 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 54984742 54984742 G A SNP PFKFB1 ENST00000375006 human ensembl 70_37 -1 known silent c.513 p.I171 0.997 pfam_6Phosfructo_kin,pirsf_Bifunct_6PFK/fruc_bisP_Ptase pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Zeta_toxin_domain,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB1 HGNC PGAM2 5224 genome.wustl.edu 37 7 44104591 44104591 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 44104591 44104591 C T SNP PGAM2 ENST00000297283 human ensembl 70_37 -1 known silent c.435 p.L145 1.000 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 - no_errors PGAM2 HGNC PIGC 5279 genome.wustl.edu 37 1 172366306 172366306 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 172366306 172366306 C G SNP PIGC ENST00000484368 human ensembl 70_37 -1 known rna NULL NULL 0.683 - - - no_errors PIGC HGNC PIGK 10026 genome.wustl.edu 37 1 77557973 77557973 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 77557973 77557973 G C SNP PIGK ENST00000487906 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors PIGK HGNC PIK3CA 5290 genome.wustl.edu 37 3 178916881 178916881 + Missense_Mutation SNP T T C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 178916881 178916881 T C SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.268 p.C90R 1.000 pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC PIK3R1 5295 genome.wustl.edu 37 5 67576382 67576382 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 67576382 67576382 C G SNP PIK3R1 ENST00000396611 human ensembl 70_37 +1 known missense c.661 p.Q221E 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC PIK3R3 8503 genome.wustl.edu 37 1 46546420 46546420 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 46546420 46546420 G A SNP PIK3R3 ENST00000540385 human ensembl 70_37 -1 known missense c.247 p.L83F 1.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R3 HGNC PIKFYVE 200576 genome.wustl.edu 37 2 209138367 209138367 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 209138367 209138367 C G SNP PIKFYVE ENST00000264380 human ensembl 70_37 +1 known missense c.232 p.Q78E 1.000 NULL pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC PIP4K2B 8396 genome.wustl.edu 37 17 36935684 36935684 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 36935684 36935684 C T SNP PIP4K2B ENST00000269554 human ensembl 70_37 -1 known silent c.606 p.R202 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP4K2B HGNC PIP5K1B 8395 genome.wustl.edu 37 9 71532470 71532470 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 71532470 71532470 G C SNP PIP5K1B ENST00000478500 human ensembl 70_37 +1 known missense c.898 p.E300Q 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1B HGNC PKD1L2 114780 genome.wustl.edu 37 16 81208268 81208268 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 81208268 81208268 G A SNP PKD1L2 ENST00000527937 human ensembl 70_37 -1 known silent c.603 p.V201 0.057 pfscan_REJ-like superfamily_Coatomer/clathrin_app_Ig-like,pfscan_REJ-like - no_errors DKFZP686J19100 Uniprot_genename PKHD1 5314 genome.wustl.edu 37 6 51613396 51613396 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 51613396 51613396 G T SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known missense c.9018 p.F3006L 0.905 superfamily_Pectin_lyase_fold/virulence pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC PLA2G4A 5321 genome.wustl.edu 37 1 186876127 186876127 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 186876127 186876127 G A SNP PLA2G4A ENST00000367466 human ensembl 70_37 +1 known missense c.409 p.E137K 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_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 PLCB1 23236 genome.wustl.edu 37 20 8769323 8769323 + Nonsense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 8769323 8769323 G T SNP PLCB1 ENST00000338037 human ensembl 70_37 +1 known nonsense c.3232 p.E1078* 1.000 pirsf_PLC-beta,pfam_PLC-beta_C 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 PLEC 5339 genome.wustl.edu 37 8 144994196 144994196 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 144994196 144994196 C G SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.10204 p.E3402Q 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 144996497 144996497 + Nonsense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 144996497 144996497 C A SNP PLEC ENST00000322810 human ensembl 70_37 -1 known nonsense c.7903 p.E2635* 0.998 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 144997454 144997454 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 144997454 144997454 C G SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.7054 p.E2352Q 0.998 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 145003949 145003949 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 145003949 145003949 C G SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.3199 p.E1067Q 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 PLEKHA1 59338 genome.wustl.edu 37 10 124172455 124172455 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 124172455 124172455 C G SNP PLEKHA1 ENST00000368990 human ensembl 70_37 +1 known nonsense c.362 p.S121* 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA1 HGNC PLOD1 5351 genome.wustl.edu 37 1 12004636 12004636 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 12004636 12004636 G A SNP PLOD1 ENST00000376369 human ensembl 70_37 +1 known missense c.134 p.R45K 0.001 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD1 HGNC PLXNB1 5364 genome.wustl.edu 37 3 48459942 48459942 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 48459942 48459942 C T SNP PLXNB1 ENST00000296440 human ensembl 70_37 -1 known missense c.2965 p.E989K 0.912 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,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 PLXNB1 HGNC PMFBP1 83449 genome.wustl.edu 37 16 72159139 72159139 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 72159139 72159139 C G SNP PMFBP1 ENST00000537465 human ensembl 70_37 -1 known missense c.2434 p.E812Q 0.983 NULL NULL - no_errors PMFBP1 HGNC PMP22 5376 genome.wustl.edu 37 17 15142858 15142858 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 15142858 15142858 G C SNP PMP22 ENST00000312280 human ensembl 70_37 -1 known missense c.249 p.F83L 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_PMP22 pfam_PMP22/EMP/MP20/Claudin,prints_PMP22,prints_PMP22_EMP_MP20 - no_errors PMP22 HGNC PMPCA 23203 genome.wustl.edu 37 9 139310756 139310756 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 139310756 139310756 G C SNP PMPCA ENST00000371717 human ensembl 70_37 +1 known missense c.546 p.E182D 1.000 pfam_Pept_M16_N,superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors PMPCA HGNC PMS2P3 5387 genome.wustl.edu 37 7 75157021 75157021 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 75157021 75157021 G A SNP PMS2P3 ENST00000394921 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors PMS2P3 HGNC PNN 5411 genome.wustl.edu 37 14 39648436 39648436 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 39648436 39648436 G C SNP PNN ENST00000216832 human ensembl 70_37 +1 known missense c.640 p.E214Q 1.000 pfam_Pinin_SDK_MemA pfam_Pinin_SDK_N,pfam_Pinin_SDK_MemA - no_errors PNN HGNC POLA2 23649 genome.wustl.edu 37 11 65064746 65064746 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 65064746 65064746 C G SNP POLA2 ENST00000534785 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors POLA2 HGNC POLR2F 5435 genome.wustl.edu 37 22 38349778 38349778 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 38349778 38349778 G A SNP POLR2F ENST00000492213 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors POLR2F HGNC POM121L9P 29774 genome.wustl.edu 37 22 24656996 24656996 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 24656996 24656996 C G SNP POM121L9P ENST00000414583 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors POM121L9P HGNC POMT1 10585 genome.wustl.edu 37 9 134379625 134379625 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 134379625 134379625 G A SNP POMT1 ENST00000372228 human ensembl 70_37 +1 known missense c.20 p.R7H 0.182 NULL pfam_Glyco_trans_39,pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif - no_errors POMT1 HGNC POU2F2 5452 genome.wustl.edu 37 19 42595860 42595860 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 42595860 42595860 C G SNP POU2F2 ENST00000560804 human ensembl 70_37 -1 putative missense c.1615 p.D539H 0.069 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F2 HGNC PPID 5481 genome.wustl.edu 37 4 159631994 159631994 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 159631994 159631994 C G SNP PPID ENST00000307720 human ensembl 70_37 -1 known missense c.901 p.E301Q 1.000 pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPID HGNC PPP1R10 5514 genome.wustl.edu 37 6 30571789 30571789 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 30571789 30571789 C T SNP PPP1R10 ENST00000376511 human ensembl 70_37 -1 known missense c.1504 p.E502K 1.000 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC PPP1R10 5514 genome.wustl.edu 37 6 30571825 30571825 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 30571825 30571825 C G SNP PPP1R10 ENST00000376511 human ensembl 70_37 -1 known missense c.1468 p.E490Q 1.000 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC PPP1R10 5514 genome.wustl.edu 37 6 30573986 30573986 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 30573986 30573986 C T SNP PPP1R10 ENST00000376511 human ensembl 70_37 -1 known silent c.669 p.V223 0.999 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC PPP1R10 5514 genome.wustl.edu 37 6 30576637 30576637 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 30576637 30576637 C G SNP PPP1R10 ENST00000376511 human ensembl 70_37 -1 known missense c.249 p.K83N 1.000 superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC PPP1R12A 4659 genome.wustl.edu 37 12 80191034 80191034 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 80191034 80191034 C G SNP PPP1R12A ENST00000261207 human ensembl 70_37 -1 known missense c.2233 p.E745Q 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 PPP1R3A 5506 genome.wustl.edu 37 7 113517963 113517963 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 113517963 113517963 G C SNP PPP1R3A ENST00000284601 human ensembl 70_37 -1 known missense c.3184 p.Q1062E 0.001 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC PPP1R3A 5506 genome.wustl.edu 37 7 113518481 113518481 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 113518481 113518481 G A SNP PPP1R3A ENST00000284601 human ensembl 70_37 -1 known missense c.2666 p.S889L 0.477 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC PPP1R9A 55607 genome.wustl.edu 37 7 94855369 94855369 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 94855369 94855369 G A SNP PPP1R9A ENST00000289495 human ensembl 70_37 +1 known missense c.1987 p.E663K 1.000 NULL pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC PPP2R2A 5520 genome.wustl.edu 37 8 26217714 26217714 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 26217714 26217714 G A SNP PPP2R2A ENST00000380737 human ensembl 70_37 +1 known missense c.376 p.E126K 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 PPP2R2A HGNC PRDM4 11108 genome.wustl.edu 37 12 108128300 108128300 + Splice_Site SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 108128300 108128300 C G SNP PRDM4 ENST00000228437 human ensembl 70_37 -1 known splice_site c.2094-1 e11-1 1.000 - - - no_errors PRDM4 HGNC PREX2 80243 genome.wustl.edu 37 8 68995620 68995620 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 68995620 68995620 G A SNP PREX2 ENST00000288368 human ensembl 70_37 +1 known missense c.2024 p.R675K 1.000 superfamily_PDZ pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC PRKAA2 5563 genome.wustl.edu 37 1 57161821 57161821 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 57161821 57161821 C G SNP PRKAA2 ENST00000371244 human ensembl 70_37 +1 known missense c.777 p.I259M 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,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PRKAA2 HGNC PRKCE 5581 genome.wustl.edu 37 2 46378297 46378297 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 46378297 46378297 G A SNP PRKCE ENST00000306156 human ensembl 70_37 +1 known missense c.1849 p.E617K 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,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,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_Prot_kin_PKC_delta,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKCE HGNC PRKCZ 5590 genome.wustl.edu 37 1 2116133 2116133 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 2116133 2116133 G A SNP PRKCZ ENST00000378567 human ensembl 70_37 +1 known missense c.1687 p.D563N 1.000 pfam_Pkinase_C,smart_AGC-kinase_C,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 PRKCZ HGNC PRKD3 23683 genome.wustl.edu 37 2 37543598 37543598 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 37543598 37543598 G A SNP PRKD3 ENST00000234179 human ensembl 70_37 -1 known missense c.70 p.P24S 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,pfam_LipoPS_kinase,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 PRKD3 HGNC PRKDC 5591 genome.wustl.edu 37 8 48701765 48701765 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 48701765 48701765 G C SNP PRKDC ENST00000314191 human ensembl 70_37 -1 known missense c.10702 p.Q3568E 1.000 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC PRMT10 90826 genome.wustl.edu 37 4 148605133 148605133 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 148605133 148605133 C T SNP PRMT10 ENST00000322396 human ensembl 70_37 -1 known silent c.6 p.S2 0.714 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRMT10 HGNC PRND 23627 genome.wustl.edu 37 20 4705251 4705251 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 4705251 4705251 C T SNP PRND ENST00000305817 human ensembl 70_37 +1 known silent c.54 p.F18 0.000 pfam_Doppel pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Doppel,superfamily_Prion/Doppel_prot_b-ribbon_dom - no_errors PRND HGNC PRPF8 10594 genome.wustl.edu 37 17 1554817 1554817 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 1554817 1554817 G C SNP PRPF8 ENST00000304992 human ensembl 70_37 -1 known missense c.6541 p.Q2181E 1.000 pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1 - no_errors PRPF8 HGNC PRPF8 10594 genome.wustl.edu 37 17 1554945 1554945 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 1554945 1554945 G C SNP PRPF8 ENST00000304992 human ensembl 70_37 -1 known silent c.6507 p.L2169 1.000 pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1 - no_errors PRPF8 HGNC PRR21 643905 genome.wustl.edu 37 2 240982052 240982052 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 240982052 240982052 C G SNP PRR21 ENST00000408934 human ensembl 70_37 -1 known silent c.348 p.S116 0.000 NULL NULL - no_errors PRR21 HGNC PRR5L 79899 genome.wustl.edu 37 11 36476993 36476993 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 36476993 36476993 C G SNP PRR5L ENST00000530627 human ensembl 70_37 +1 known rna NULL NULL 0.032 - - - no_errors PRR5L HGNC PRRC2A 7916 genome.wustl.edu 37 6 31603372 31603372 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 31603372 31603372 C G SNP PRRC2A ENST00000376007 human ensembl 70_37 +1 known nonsense c.5387 p.S1796* 0.910 NULL pfam_BAT2_N - no_errors PRRC2A HGNC PRRT4 401399 genome.wustl.edu 37 7 127992694 127992694 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 127992694 127992694 G A SNP PRRT4 ENST00000446477 human ensembl 70_37 -1 known missense c.916 p.P306S 0.093 NULL NULL - no_errors PRRT4 HGNC PRSS58 136541 genome.wustl.edu 37 7 141952378 141952378 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 141952378 141952378 G A SNP PRSS58 ENST00000547058 human ensembl 70_37 -1 known nonsense c.490 p.Q164* 0.000 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,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 - no_errors PRSS58 HGNC PSMF1 9491 genome.wustl.edu 37 20 1146841 1146841 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 1146841 1146841 G C SNP PSMF1 ENST00000484891 human ensembl 70_37 +1 known rna NULL NULL 0.092 - - - no_errors PSMF1 HGNC PTBP2 58155 genome.wustl.edu 37 1 97278931 97278931 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 97278931 97278931 G C SNP PTBP2 ENST00000394184 human ensembl 70_37 +1 known silent c.1617 p.L539 1.000 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 PTBP2 HGNC PTCH2 8643 genome.wustl.edu 37 1 45293982 45293982 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 45293982 45293982 G C SNP PTCH2 ENST00000372192 human ensembl 70_37 -1 known silent c.1695 p.L565 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 23411482 23411482 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 23411482 23411482 C T SNP PTCHD1 ENST00000379361 human ensembl 70_37 +1 known missense c.1847 p.S616F 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC PTGER4 5734 genome.wustl.edu 37 5 40681884 40681884 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 40681884 40681884 C T SNP PTGER4 ENST00000302472 human ensembl 70_37 +1 known silent c.789 p.I263 0.845 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt - no_errors PTGER4 HGNC PTPRC 5788 genome.wustl.edu 37 1 198718660 198718660 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 198718660 198718660 C G SNP PTPRC ENST00000442510 human ensembl 70_37 +1 known missense c.3054 p.I1018M 1.000 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,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 PTPRC HGNC PUM2 23369 genome.wustl.edu 37 2 20458120 20458120 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 20458120 20458120 C G SNP PUM2 ENST00000361078 human ensembl 70_37 -1 known missense c.2368 p.D790H 1.000 pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM2 HGNC PWWP2A 114825 genome.wustl.edu 37 5 159520795 159520795 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 159520795 159520795 G C SNP PWWP2A ENST00000307063 human ensembl 70_37 -1 known missense c.862 p.Q288E 1.000 NULL pfam_PWWP,smart_PWWP,pfscan_PWWP - no_errors PWWP2A HGNC R3HCC1 203069 genome.wustl.edu 37 8 23148956 23148956 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 23148956 23148956 G C SNP R3HCC1 ENST00000411463 human ensembl 70_37 +1 known missense c.1055 p.G352A 0.982 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HCC1 HGNC RAB1B 81876 genome.wustl.edu 37 11 66039341 66039341 + Splice_Site SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 66039341 66039341 G A SNP RAB1B ENST00000311481 human ensembl 70_37 +1 known splice_site c.87+1 e2+1 1.000 - - - no_errors RAB1B HGNC RAB1B 81876 genome.wustl.edu 37 11 66039887 66039887 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 66039887 66039887 C T SNP RAB1B ENST00000311481 human ensembl 70_37 +1 known missense c.235 p.R79W 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,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_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,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 RAB1B HGNC RAB8A 4218 genome.wustl.edu 37 19 16222825 16222825 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 16222825 16222825 C G SNP RAB8A ENST00000300935 human ensembl 70_37 +1 known missense c.114 p.I38M 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,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_Gtr1_RagA,smart_Small_GTPase_ARF,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 RAB8A HGNC RALGPS2 55103 genome.wustl.edu 37 1 178777210 178777210 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 178777210 178777210 G C SNP RALGPS2 ENST00000367635 human ensembl 70_37 +1 known missense c.244 p.E82Q 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS2 HGNC RANBP6 26953 genome.wustl.edu 37 9 6013147 6013147 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 6013147 6013147 C G SNP RANBP6 ENST00000259569 human ensembl 70_37 -1 known missense c.2461 p.V821L 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC RASA4 10156 genome.wustl.edu 37 7 102246352 102246352 + Missense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 102246352 102246352 C A SNP RASA4 ENST00000262940 human ensembl 70_37 -1 known missense c.381 p.W127C 0.405 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,prints_C2_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP - no_errors RASA4 HGNC RASAL2 9462 genome.wustl.edu 37 1 178269208 178269208 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 178269208 178269208 G A SNP RASAL2 ENST00000367649 human ensembl 70_37 +1 known missense c.412 p.E138K 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors RASAL2 HGNC RBM14 10432 genome.wustl.edu 37 11 66384308 66384308 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 66384308 66384308 C T SNP RBM14 ENST00000310137 human ensembl 70_37 +1 known silent c.117 p.F39 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM14 HGNC RBM14 10432 genome.wustl.edu 37 11 66384488 66384488 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 66384488 66384488 C T SNP RBM14 ENST00000310137 human ensembl 70_37 +1 known silent c.297 p.F99 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM14 HGNC RBPJ 3516 genome.wustl.edu 37 4 26417194 26417194 + Nonsense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 26417194 26417194 C T SNP RBPJ ENST00000342295 human ensembl 70_37 +1 known nonsense c.292 p.Q98* 1.000 pfam_LAG1_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,pfam_IPT_TIG_rcpt,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJ HGNC RC3H2 54542 genome.wustl.edu 37 9 125667492 125667492 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 125667492 125667492 G A SNP RC3H2 ENST00000478216 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RC3H2 HGNC RECQL 5965 genome.wustl.edu 37 12 21639444 21639444 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 21639444 21639444 G A SNP RECQL ENST00000421138 human ensembl 70_37 -1 known missense c.470 p.S157L 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC REEP2 51308 genome.wustl.edu 37 5 137780478 137780478 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 137780478 137780478 G C SNP REEP2 ENST00000378339 human ensembl 70_37 +1 known missense c.339 p.K113N 1.000 NULL pfam_TB2_DP1_HVA22 - no_errors REEP2 HGNC RET 5979 genome.wustl.edu 37 10 43615040 43615040 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 43615040 43615040 G A SNP RET ENST00000355710 human ensembl 70_37 +1 known silent c.2454 p.E818 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_Ret_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_Ret_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Cadherin,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RET HGNC RFC3 5983 genome.wustl.edu 37 13 34395290 34395290 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 13 34395290 34395290 C T SNP RFC3 ENST00000380071 human ensembl 70_37 +1 known missense c.109 p.H37Y 1.000 smart_AAA+_ATPase pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC3 HGNC RGS4 5999 genome.wustl.edu 37 1 163046287 163046287 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 163046287 163046287 C T SNP RGS4 ENST00000491263 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors RGS4 HGNC RGS9 8787 genome.wustl.edu 37 17 63204072 63204072 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 63204072 63204072 C G SNP RGS9 ENST00000262406 human ensembl 70_37 +1 known missense c.1236 p.I412M 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,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS9 HGNC RILPL1 353116 genome.wustl.edu 37 12 123983273 123983273 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 123983273 123983273 C G SNP RILPL1 ENST00000376874 human ensembl 70_37 -1 known missense c.619 p.D207H 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,pfam_RILP - no_errors RILPL1 HGNC RLN1 6013 genome.wustl.edu 37 9 5335539 5335539 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 5335539 5335539 G C SNP RLN1 ENST00000223862 human ensembl 70_37 -1 known missense c.270 p.F90L 0.001 pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin,prints_Insulin_family - no_errors RLN1 HGNC RLN3 117579 genome.wustl.edu 37 19 14141637 14141637 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 14141637 14141637 G T SNP RLN3 ENST00000431365 human ensembl 70_37 +1 known missense c.306 p.R102S 0.000 pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Insulin_family - no_errors RLN3 HGNC RNASE13 440163 genome.wustl.edu 37 14 21502283 21502283 + Silent SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 21502283 21502283 C A SNP RNASE13 ENST00000382951 human ensembl 70_37 -1 known silent c.165 p.L55 0.061 pfam_RNaseA_domain,superfamily_RNaseA_domain pfam_RNaseA_domain,superfamily_RNaseA_domain - no_errors RNASE13 HGNC RNF10 9921 genome.wustl.edu 37 12 121000862 121000862 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 121000862 121000862 C G SNP RNF10 ENST00000413266 human ensembl 70_37 +1 known missense c.1243 p.Q415E 0.993 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF10 HGNC RNF125 54941 genome.wustl.edu 37 18 29617208 29617208 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 18 29617208 29617208 G C SNP RNF125 ENST00000217740 human ensembl 70_37 +1 known missense c.294 p.K98N 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF125 HGNC RNF126P1 376412 genome.wustl.edu 37 17 55123547 55123547 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 55123547 55123547 C T SNP RNF126P1 ENST00000567452 human ensembl 70_37 +1 known rna NULL NULL 0.256 - - - no_errors RNF126P1 HGNC RNF216 54476 genome.wustl.edu 37 7 5663694 5663694 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 5663694 5663694 C T SNP RNF216 ENST00000389902 human ensembl 70_37 -1 known silent c.2445 p.K815 1.000 NULL smart_Znf_C6HC - no_errors RNF216 HGNC RNF41 10193 genome.wustl.edu 37 12 56602063 56602063 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 56602063 56602063 C T SNP RNF41 ENST00000345093 human ensembl 70_37 -1 known missense c.382 p.E128K 1.000 superfamily_TRAF-like,pfscan_Znf_SIAH 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 241513702 241513702 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 241513702 241513702 G A SNP RNPEPL1 ENST00000270357 human ensembl 70_37 +1 known missense c.418 p.E140K 1.000 pfam_Peptidase_M1_N,prints_Peptidase_M1_N pfam_Peptidase_M1_C,pfam_Peptidase_M1_N,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEPL1 HGNC ROCK1 6093 genome.wustl.edu 37 18 18534772 18534772 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 18 18534772 18534772 C T SNP ROCK1 ENST00000399799 human ensembl 70_37 -1 known silent c.3825 p.K1275 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors ROCK1 HGNC ROR2 4920 genome.wustl.edu 37 9 94486597 94486597 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 94486597 94486597 C T SNP ROR2 ENST00000375708 human ensembl 70_37 -1 known missense c.2179 p.E727K 0.998 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_rcpt_ROR,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROR2 HGNC RPAP3 79657 genome.wustl.edu 37 12 48061569 48061569 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 48061569 48061569 C G SNP RPAP3 ENST00000005386 human ensembl 70_37 -1 known missense c.1779 p.Q593H 0.951 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors RPAP3 HGNC RPGR 6103 genome.wustl.edu 37 X 38132722 38132722 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 38132722 38132722 G A SNP RPGR ENST00000339363 human ensembl 70_37 -1 known missense c.2773 p.L925F 0.000 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 RPGR 6103 genome.wustl.edu 37 X 38146820 38146820 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 38146820 38146820 C T SNP RPGR ENST00000339363 human ensembl 70_37 -1 known missense c.2047 p.E683K 0.008 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 RPGR 6103 genome.wustl.edu 37 X 38158229 38158229 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 38158229 38158229 G A SNP RPGR ENST00000378505 human ensembl 70_37 -1 known missense c.1225 p.R409C 0.952 NULL pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC RPGRIP1L 23322 genome.wustl.edu 37 16 53729285 53729285 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 53729285 53729285 G A SNP RPGRIP1L ENST00000568653 human ensembl 70_37 -1 putative nonsense c.316 p.Q106* 0.000 NULL NULL - no_errors RPGRIP1L HGNC RPL35 11224 genome.wustl.edu 37 9 127623691 127623691 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 127623691 127623691 C T SNP RPL35 ENST00000495728 human ensembl 70_37 -1 known rna NULL NULL 0.241 - - - no_errors RPL35 HGNC RPL6P27 645387 genome.wustl.edu 37 18 6462298 6462298 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 18 6462298 6462298 C G SNP RPL6P27 ENST00000583065 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RPL6P27 HGNC RUNX2 860 genome.wustl.edu 37 6 45390610 45390610 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 45390610 45390610 C G SNP RUNX2 ENST00000352853 human ensembl 70_37 +1 known silent c.543 p.L181 0.988 pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt - no_errors RUNX2 HGNC RWDD3 25950 genome.wustl.edu 37 1 95712057 95712057 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 95712057 95712057 C G SNP RWDD3 ENST00000460571 human ensembl 70_37 +1 known rna NULL NULL 0.010 - - - no_errors RWDD3 HGNC RYR2 6262 genome.wustl.edu 37 1 237765394 237765394 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 237765394 237765394 G C SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.4660 p.E1554Q 1.000 pfam_SPRY_rcpt,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY 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 RYR3 6263 genome.wustl.edu 37 15 34109084 34109084 + Missense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 34109084 34109084 C A SNP RYR3 ENST00000389232 human ensembl 70_37 +1 known missense c.10524 p.F3508L 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC SAP130 79595 genome.wustl.edu 37 2 128775373 128775373 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 128775373 128775373 G C SNP SAP130 ENST00000357702 human ensembl 70_37 -1 known missense c.307 p.Q103E 1.000 NULL NULL - no_errors SAP130 HGNC SAYSD1 55776 genome.wustl.edu 37 6 39082734 39082734 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 39082734 39082734 G A SNP SAYSD1 ENST00000229903 human ensembl 70_37 -1 known silent c.132 p.A44 0.459 NULL pfam_Uncharacterised_SAYSvFN - no_errors SAYSD1 HGNC SBF1 6305 genome.wustl.edu 37 22 50893488 50893488 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 50893488 50893488 G C SNP SBF1 ENST00000380817 human ensembl 70_37 -1 known missense c.4638 p.F1546L 1.000 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,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 SBF1 HGNC SBNO2 22904 genome.wustl.edu 37 19 1111509 1111509 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 1111509 1111509 G C SNP SBNO2 ENST00000361757 human ensembl 70_37 -1 known missense c.2805 p.F935L 1.000 NULL NULL - no_errors SBNO2 HGNC SCAND3 114821 genome.wustl.edu 37 6 28540724 28540724 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 28540724 28540724 G C SNP SCAND3 ENST00000452236 human ensembl 70_37 -1 known missense c.2942 p.S981C 0.998 superfamily_RNaseH-like_dom 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 SCEL-AS1 0 genome.wustl.edu 37 13 78176270 78176270 + Splice_Site SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 13 78176270 78176270 C T SNP SCEL-AS1 ENST00000456280 human ensembl 70_37 -1 known splice_site c.NULL NULL 0.000 - - - no_errors SCEL-AS1 HGNC SCN2A 6326 genome.wustl.edu 37 2 166226734 166226734 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 166226734 166226734 G A SNP SCN2A ENST00000283256 human ensembl 70_37 +1 known silent c.3774 p.L1258 0.997 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC SCN4A 6329 genome.wustl.edu 37 17 62022075 62022075 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 62022075 62022075 G A SNP SCN4A ENST00000435607 human ensembl 70_37 -1 known silent c.3870 p.F1290 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 SCN4A 6329 genome.wustl.edu 37 17 62022108 62022108 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 62022108 62022108 G A SNP SCN4A ENST00000435607 human ensembl 70_37 -1 known silent c.3837 p.I1279 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 SCNN1D 6339 genome.wustl.edu 37 1 1225898 1225898 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 1225898 1225898 C G SNP SCNN1D ENST00000379116 human ensembl 70_37 +1 known missense c.1822 p.R608G 0.000 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,superfamily_FH2_actin-bd,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1D HGNC SCPEP1 59342 genome.wustl.edu 37 17 55058454 55058454 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 55058454 55058454 G C SNP SCPEP1 ENST00000262288 human ensembl 70_37 +1 known missense c.88 p.D30H 0.000 NULL pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors SCPEP1 HGNC SCUBE2 57758 genome.wustl.edu 37 11 9072167 9072167 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 9072167 9072167 C T SNP SCUBE2 ENST00000457346 human ensembl 70_37 -1 known missense c.1625 p.R542Q 0.957 NULL pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors SCUBE2 HGNC SDPR 8436 genome.wustl.edu 37 2 192711513 192711513 + Missense_Mutation SNP T T A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 192711513 192711513 T A SNP SDPR ENST00000304141 human ensembl 70_37 -1 known missense c.139 p.I47F 0.999 NULL NULL - no_errors SDPR HGNC SDR16C5 195814 genome.wustl.edu 37 8 57214059 57214059 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 57214059 57214059 C T SNP SDR16C5 ENST00000303749 human ensembl 70_37 -1 known missense c.910 p.D304N 0.034 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors SDR16C5 HGNC SEMA3F 6405 genome.wustl.edu 37 3 50220166 50220166 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 50220166 50220166 G A SNP SEMA3F ENST00000002829 human ensembl 70_37 +1 known missense c.853 p.E285K 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,smart_Ig_sub2,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3F HGNC SEMA4G 57715 genome.wustl.edu 37 10 102738363 102738363 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 102738363 102738363 G A SNP SEMA4G ENST00000210633 human ensembl 70_37 +1 known silent c.609 p.L203 0.996 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA4G HGNC SEMA6C 10500 genome.wustl.edu 37 1 151107724 151107724 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 151107724 151107724 C T SNP SEMA6C ENST00000368913 human ensembl 70_37 -1 known missense c.1495 p.E499K 1.000 superfamily_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6C HGNC SENP1 29843 genome.wustl.edu 37 12 48482958 48482958 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 48482958 48482958 G A SNP SENP1 ENST00000339976 human ensembl 70_37 -1 known silent c.435 p.F145 1.000 NULL NULL - no_errors SENP1 HGNC SENP6 26054 genome.wustl.edu 37 6 76425309 76425309 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 76425309 76425309 G A SNP SENP6 ENST00000370014 human ensembl 70_37 +1 known silent c.3338 p.*1113 0.817 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP6 HGNC SEPT7 989 genome.wustl.edu 37 7 35937985 35937985 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 35937985 35937985 G C SNP SEPT7 ENST00000399034 human ensembl 70_37 +1 known missense c.1129 p.E377Q 1.000 pirsf_Septin pfam_Cell_div_GTP-bd,pirsf_Septin,prints_Septin7 - no_errors SEPT7 HGNC SETDB1 9869 genome.wustl.edu 37 1 150917569 150917569 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 150917569 150917569 C T SNP SETDB1 ENST00000271640 human ensembl 70_37 +1 known silent c.1125 p.V375 1.000 smart_Tudor pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC SEZ6L 23544 genome.wustl.edu 37 22 26688508 26688508 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 26688508 26688508 G A SNP SEZ6L ENST00000248933 human ensembl 70_37 +1 known silent c.231 p.A77 0.000 NULL 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 SEZ6L HGNC SF1 7536 genome.wustl.edu 37 11 64536711 64536711 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 64536711 64536711 G A SNP SF1 ENST00000377390 human ensembl 70_37 -1 known missense c.763 p.R255W 0.989 NULL pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1 - no_errors SF1 HGNC SF3B3 23450 genome.wustl.edu 37 16 70603912 70603912 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 70603912 70603912 G A SNP SF3B3 ENST00000302516 human ensembl 70_37 +1 known missense c.3268 p.E1090K 1.000 pfam_Cleavage/polyA-sp_fac_asu_C pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC SF3B4 10262 genome.wustl.edu 37 1 149898637 149898637 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 149898637 149898637 C G SNP SF3B4 ENST00000271628 human ensembl 70_37 -1 known missense c.337 p.E113Q 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SF3B4 HGNC SF3B4 10262 genome.wustl.edu 37 1 149898700 149898700 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 149898700 149898700 G A SNP SF3B4 ENST00000271628 human ensembl 70_37 -1 known missense c.274 p.H92Y 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SF3B4 HGNC SFI1 9814 genome.wustl.edu 37 22 31942899 31942899 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 31942899 31942899 G A SNP SFI1 ENST00000400288 human ensembl 70_37 +1 known missense c.391 p.E131K 1.000 NULL superfamily_Cyclin-like - no_errors SFI1 HGNC SFRP5 6425 genome.wustl.edu 37 10 99527272 99527272 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 99527272 99527272 C T SNP SFRP5 ENST00000266066 human ensembl 70_37 -1 known silent c.953 p.*318 0.998 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 SFRP5 HGNC SH3TC2 79628 genome.wustl.edu 37 5 148407944 148407944 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 148407944 148407944 C T SNP SH3TC2 ENST00000515425 human ensembl 70_37 -1 known missense c.1351 p.E451K 0.978 NULL pfam_SH3_domain,pfam_TPR-1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC2 HGNC SHD 56961 genome.wustl.edu 37 19 4283076 4283076 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 4283076 4283076 C G SNP SHD ENST00000543264 human ensembl 70_37 +1 known silent c.429 p.L143 0.887 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHD HGNC SHOX2 6474 genome.wustl.edu 37 3 157815852 157815852 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 157815852 157815852 C G SNP SHOX2 ENST00000425436 human ensembl 70_37 -1 known silent c.1032 p.L344 1.000 pfam_OAR_dom,pfscan_OAR_dom pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain,prints_HTH_motif - no_errors SHOX2 HGNC SHROOM4 57477 genome.wustl.edu 37 X 50377022 50377022 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 50377022 50377022 C T SNP SHROOM4 ENST00000289292 human ensembl 70_37 -1 known missense c.2051 p.R684Q 0.000 NULL pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC SIPA1 6494 genome.wustl.edu 37 11 65409788 65409788 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 65409788 65409788 G A SNP SIPA1 ENST00000394224 human ensembl 70_37 +1 known silent c.747 p.E249 1.000 NULL pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1 HGNC SIRT1 23411 genome.wustl.edu 37 10 69648778 69648778 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 69648778 69648778 C G SNP SIRT1 ENST00000212015 human ensembl 70_37 +1 known nonsense c.686 p.S229* 1.000 NULL pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT1 HGNC SIRT4 23409 genome.wustl.edu 37 12 120750454 120750454 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 120750454 120750454 C G SNP SIRT4 ENST00000202967 human ensembl 70_37 +1 known silent c.693 p.V231 1.000 pfam_Sirtuin,pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT4 HGNC SIX5 147912 genome.wustl.edu 37 19 46268875 46268875 + Nonsense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 46268875 46268875 C A SNP SIX5 ENST00000317578 human ensembl 70_37 -1 known nonsense c.2104 p.E702* 0.732 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX5 HGNC SIX5 147912 genome.wustl.edu 37 19 46271345 46271345 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 46271345 46271345 C G SNP SIX5 ENST00000317578 human ensembl 70_37 -1 known missense c.758 p.R253P 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX5 HGNC SIX5 147912 genome.wustl.edu 37 19 46271586 46271586 + Nonsense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 46271586 46271586 C A SNP SIX5 ENST00000317578 human ensembl 70_37 -1 known nonsense c.517 p.E173* 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX5 HGNC SLC12A2 6558 genome.wustl.edu 37 5 127493755 127493755 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 127493755 127493755 C T SNP SLC12A2 ENST00000262461 human ensembl 70_37 +1 known missense c.2374 p.L792F 1.000 pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A2 HGNC SLC16A13 201232 genome.wustl.edu 37 17 6940134 6940134 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 6940134 6940134 C G SNP SLC16A13 ENST00000308027 human ensembl 70_37 +1 known silent c.288 p.L96 0.185 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 SLC19A2 10560 genome.wustl.edu 37 1 169435091 169435091 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 169435091 169435091 G A SNP SLC19A2 ENST00000236137 human ensembl 70_37 -1 known missense c.1490 p.S497L 0.017 pirsf_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier - no_errors SLC19A2 HGNC SLC1A6 6511 genome.wustl.edu 37 19 15067377 15067377 + Silent SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 15067377 15067377 G T SNP SLC1A6 ENST00000221742 human ensembl 70_37 -1 known silent c.1080 p.L360 0.999 pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A6 HGNC SLC22A14 9389 genome.wustl.edu 37 3 38347923 38347923 + Missense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 38347923 38347923 C A SNP SLC22A14 ENST00000273173 human ensembl 70_37 +1 known missense c.406 p.P136T 0.998 pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A14 HGNC SLC22A24 283238 genome.wustl.edu 37 11 62871649 62871649 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 62871649 62871649 C T SNP SLC22A24 ENST00000417740 human ensembl 70_37 -1 putative missense c.952 p.E318K 0.417 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 SLC22A24 HGNC SLC22A24 283238 genome.wustl.edu 37 11 62871743 62871743 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 62871743 62871743 C T SNP SLC22A24 ENST00000417740 human ensembl 70_37 -1 putative silent c.858 p.L286 0.913 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 SLC22A24 HGNC SLC25A28 81894 genome.wustl.edu 37 10 101371144 101371144 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 101371144 101371144 G A SNP SLC25A28 ENST00000489307 human ensembl 70_37 -1 known rna NULL NULL 0.361 - - - no_errors SLC25A28 HGNC SLC25A37 51312 genome.wustl.edu 37 8 23429135 23429135 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 23429135 23429135 C T SNP SLC25A37 ENST00000519973 human ensembl 70_37 +1 known silent c.784 p.L262 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A37 HGNC SLC25A5 292 genome.wustl.edu 37 X 118604462 118604462 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 118604462 118604462 C G SNP SLC25A5 ENST00000317881 human ensembl 70_37 +1 known nonsense c.725 p.S242* 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor - no_errors SLC25A5 HGNC SLC34A1 6569 genome.wustl.edu 37 5 176824801 176824801 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 176824801 176824801 C T SNP SLC34A1 ENST00000324417 human ensembl 70_37 +1 known silent c.1434 p.F478 1.000 pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A1 HGNC SLC34A1 6569 genome.wustl.edu 37 5 176824813 176824813 + Silent SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 176824813 176824813 C A SNP SLC34A1 ENST00000324417 human ensembl 70_37 +1 known silent c.1446 p.I482 1.000 pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A1 HGNC SLC34A1 6569 genome.wustl.edu 37 5 176824930 176824930 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 176824930 176824930 C T SNP SLC34A1 ENST00000324417 human ensembl 70_37 +1 known silent c.1563 p.V521 0.962 tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A1 HGNC SLC35G5 83650 genome.wustl.edu 37 8 11189627 11189627 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 11189627 11189627 G C SNP SLC35G5 ENST00000382435 human ensembl 70_37 +1 known missense c.1012 p.E338Q 0.993 NULL pfam_DMT - no_errors SLC35G5 HGNC SLC38A10 124565 genome.wustl.edu 37 17 79219518 79219518 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 79219518 79219518 C T SNP SLC38A10 ENST00000374759 human ensembl 70_37 -1 known silent c.3198 p.P1066 0.000 NULL pfam_AA_transpt_TM - no_errors SLC38A10 HGNC SLC38A10 124565 genome.wustl.edu 37 17 79219761 79219761 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 79219761 79219761 C T SNP SLC38A10 ENST00000374759 human ensembl 70_37 -1 known missense c.2955 p.M985I 0.000 NULL pfam_AA_transpt_TM - no_errors SLC38A10 HGNC SLC38A10 124565 genome.wustl.edu 37 17 79244820 79244820 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 79244820 79244820 C G SNP SLC38A10 ENST00000374759 human ensembl 70_37 -1 known missense c.1029 p.E343D 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A10 HGNC SLC43A3 29015 genome.wustl.edu 37 11 57175269 57175269 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 57175269 57175269 G C SNP SLC43A3 ENST00000352187 human ensembl 70_37 -1 known missense c.1472 p.A491G 0.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A3 HGNC SLC6A1 6529 genome.wustl.edu 37 3 11061998 11061998 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 11061998 11061998 G C SNP SLC6A1 ENST00000287766 human ensembl 70_37 +1 known missense c.571 p.E191Q 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT1 - no_errors SLC6A1 HGNC SLC6A2 6530 genome.wustl.edu 37 16 55734065 55734065 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 55734065 55734065 C G SNP SLC6A2 ENST00000219833 human ensembl 70_37 +1 known silent c.1605 p.V535 1.000 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_noradrenaline - no_errors SLC6A2 HGNC SLC7A14 57709 genome.wustl.edu 37 3 170184915 170184915 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 170184915 170184915 C T SNP SLC7A14 ENST00000231706 human ensembl 70_37 -1 known silent c.2244 p.K748 1.000 NULL pfam_AA-permease_dom - no_errors SLC7A14 HGNC SMAD1 4086 genome.wustl.edu 37 4 146436153 146436153 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 146436153 146436153 G T SNP SMAD1 ENST00000302085 human ensembl 70_37 +1 known missense c.388 p.V130L 1.000 pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1 pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD1 HGNC SMAD5 4090 genome.wustl.edu 37 5 135513164 135513164 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 135513164 135513164 C T SNP SMAD5 ENST00000545279 human ensembl 70_37 +1 known missense c.1391 p.S464L 1.000 pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD5 HGNC SMARCD2 6603 genome.wustl.edu 37 17 61914582 61914582 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 61914582 61914582 C G SNP SMARCD2 ENST00000448276 human ensembl 70_37 -1 known missense c.417 p.K139N 1.000 NULL pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain - no_errors SMARCD2 HGNC SMC1A 8243 genome.wustl.edu 37 X 53439973 53439973 + Nonsense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 53439973 53439973 G C SNP SMC1A ENST00000322213 human ensembl 70_37 -1 known nonsense c.731 p.S244* 0.977 pfam_RecF/RecN/SMC,prints_Tropomyosin pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin - no_errors SMC1A HGNC SMG1 23049 genome.wustl.edu 37 16 18826931 18826931 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 18826931 18826931 C T SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known missense c.10348 p.E3450K 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC SMG1 23049 genome.wustl.edu 37 16 18860627 18860627 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 18860627 18860627 G C SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known silent c.5535 p.L1845 0.965 superfamily_ARM-type_fold,pfscan_PIK_FAT pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC SMG1 23049 genome.wustl.edu 37 16 18881956 18881956 + Nonsense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 18881956 18881956 G C SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known nonsense c.2468 p.S823* 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC SMG5 23381 genome.wustl.edu 37 1 156238096 156238096 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 156238096 156238096 G C SNP SMG5 ENST00000361813 human ensembl 70_37 -1 known missense c.824 p.S275C 0.994 NULL pfam_EST1,smart_PINc_nuc-bd - no_errors SMG5 HGNC SMPD4 55627 genome.wustl.edu 37 2 130910400 130910400 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 130910400 130910400 G C SNP SMPD4 ENST00000409031 human ensembl 70_37 -1 known missense c.2329 p.R777G 1.000 NULL NULL - no_errors SMPD4 HGNC SMYD1 150572 genome.wustl.edu 37 2 88409911 88409911 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 88409911 88409911 C T SNP SMYD1 ENST00000419482 human ensembl 70_37 +1 known silent c.1353 p.F451 1.000 NULL pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD1 HGNC SNCG 6623 genome.wustl.edu 37 10 88719792 88719792 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 88719792 88719792 G A SNP SNCG ENST00000348795 human ensembl 70_37 +1 known missense c.250 p.E84K 0.989 NULL pfam_Synuclein,prints_Synuclein - no_errors SNCG HGNC SND1 27044 genome.wustl.edu 37 7 127326700 127326700 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 127326700 127326700 C G SNP SND1 ENST00000354725 human ensembl 70_37 +1 known missense c.112 p.Q38E 1.000 superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococcal_nuclease pfam_Staphylococcal_nuclease,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococcal_nuclease - no_errors SND1 HGNC SNED1 25992 genome.wustl.edu 37 2 242004841 242004841 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 242004841 242004841 C T SNP SNED1 ENST00000310397 human ensembl 70_37 +1 known missense c.2840 p.S947F 0.047 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_Fibronectin_type3,superfamily_Complement_control_module,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP - no_errors SNED1 HGNC SNORA67 26781 genome.wustl.edu 37 17 7482445 7482445 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 7482445 7482445 G C SNP SNORA67 ENST00000581621 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-186B7.4 Clone_based_vega_gene SNX17 9784 genome.wustl.edu 37 2 27597275 27597275 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 27597275 27597275 G C SNP SNX17 ENST00000233575 human ensembl 70_37 +1 known missense c.586 p.E196Q 1.000 pfscan_Ras-assoc pfam_Phox,superfamily_Phox,superfamily_FERM_central,smart_Phox,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX17 HGNC SNX20 124460 genome.wustl.edu 37 16 50707416 50707416 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 50707416 50707416 G A SNP SNX20 ENST00000330943 human ensembl 70_37 -1 known silent c.852 p.F284 0.979 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX20 HGNC SNX25 83891 genome.wustl.edu 37 4 186244913 186244913 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 186244913 186244913 G C SNP SNX25 ENST00000264694 human ensembl 70_37 +1 known missense c.1216 p.E406Q 0.957 NULL pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Regulat_G_prot_signal,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal - no_errors SNX25 HGNC SNX5 27131 genome.wustl.edu 37 20 17930840 17930840 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 17930840 17930840 C T SNP SNX5 ENST00000377759 human ensembl 70_37 -1 known missense c.727 p.D243N 1.000 pfam_Vps5_C,pirsf_Snx5_Snx6 pfam_Phox,pfam_Vps5_C,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox - no_errors SNX5 HGNC SOCS5 9655 genome.wustl.edu 37 2 46986242 46986242 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 46986242 46986242 G C SNP SOCS5 ENST00000306503 human ensembl 70_37 +1 known missense c.573 p.M191I 1.000 pfam_SOCS pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS5 HGNC SP100 6672 genome.wustl.edu 37 2 231368918 231368918 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 231368918 231368918 G A SNP SP100 ENST00000340126 human ensembl 70_37 +1 known missense c.1783 p.D595N 0.009 superfamily_SAND_dom-like,pfscan_SAND_dom 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 SP100 6672 genome.wustl.edu 37 2 231368920 231368920 + Missense_Mutation SNP T T A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 231368920 231368920 T A SNP SP100 ENST00000340126 human ensembl 70_37 +1 known missense c.1785 p.D595E 0.000 superfamily_SAND_dom-like,pfscan_SAND_dom 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 SP100 6672 genome.wustl.edu 37 2 231368945 231368945 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 231368945 231368945 G A SNP SP100 ENST00000340126 human ensembl 70_37 +1 known missense c.1810 p.E604K 0.000 pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom 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 SP140 11262 genome.wustl.edu 37 2 231115695 231115695 + Splice_Site SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 231115695 231115695 G A SNP SP140 ENST00000392045 human ensembl 70_37 +1 known splice_site c.977-1 e10-1 0.552 - - - no_errors SP140 HGNC SPAG1 6674 genome.wustl.edu 37 8 101178126 101178126 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 101178126 101178126 G A SNP SPAG1 ENST00000251809 human ensembl 70_37 +1 known silent c.225 p.L75 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SPAG1 HGNC SPAG1 6674 genome.wustl.edu 37 8 101178133 101178133 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 101178133 101178133 G C SNP SPAG1 ENST00000251809 human ensembl 70_37 +1 known missense c.232 p.D78H 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SPAG1 HGNC SPAG17 200162 genome.wustl.edu 37 1 118644438 118644438 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 118644438 118644438 C T SNP SPAG17 ENST00000336338 human ensembl 70_37 -1 known missense c.559 p.E187K 0.899 NULL NULL - no_errors SPAG17 HGNC SPAG5 10615 genome.wustl.edu 37 17 26919672 26919672 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 26919672 26919672 G C SNP SPAG5 ENST00000321765 human ensembl 70_37 -1 known missense c.590 p.S197C 0.018 NULL NULL - no_errors SPAG5 HGNC SPAG8 26206 genome.wustl.edu 37 9 35811266 35811266 + Nonsense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 35811266 35811266 C T SNP SPAG8 ENST00000340291 human ensembl 70_37 -1 known nonsense c.777 p.W259* 0.007 NULL prints_Antifreeze_1 - no_errors SPAG8 HGNC SPAG8 26206 genome.wustl.edu 37 9 35812148 35812148 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 35812148 35812148 C G SNP SPAG8 ENST00000463889 human ensembl 70_37 -1 known rna NULL NULL 0.208 - - - no_errors SPAG8 HGNC SPANXN4 441525 genome.wustl.edu 37 X 142113842 142113842 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 142113842 142113842 G A SNP SPANXN4 ENST00000446864 human ensembl 70_37 +1 known silent c.42 p.K14 0.001 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXN4 HGNC SPARCL1 8404 genome.wustl.edu 37 4 88415459 88415459 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 88415459 88415459 C G SNP SPARCL1 ENST00000282470 human ensembl 70_37 -1 known missense c.493 p.E165Q 0.821 pirsf_SPARC-like_p1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2 - no_errors SPARCL1 HGNC SPATA1 100505741 genome.wustl.edu 37 1 85011415 85011415 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 85011415 85011415 G C SNP SPATA1 ENST00000431031 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SPATA1 HGNC SPDL1 54908 genome.wustl.edu 37 5 169023670 169023670 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 169023670 169023670 C G SNP SPDL1 ENST00000265295 human ensembl 70_37 +1 known missense c.997 p.L333V 1.000 NULL NULL - no_errors SPDL1 HGNC SPEG 10290 genome.wustl.edu 37 2 220354197 220354197 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 220354197 220354197 C G SNP SPEG ENST00000312358 human ensembl 70_37 +1 novel silent c.8457 p.V2819 0.984 NULL pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors SPEG HGNC SPP2 6694 genome.wustl.edu 37 2 234967524 234967524 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 234967524 234967524 C T SNP SPP2 ENST00000168148 human ensembl 70_37 +1 known silent c.255 p.F85 0.729 pfam_Spp-24,pfam_Prot_inh_cystat pfam_Spp-24,pfam_Prot_inh_cystat - no_errors SPP2 HGNC SPTAN1 6709 genome.wustl.edu 37 9 131362264 131362264 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 131362264 131362264 C T SNP SPTAN1 ENST00000461855 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SPTAN1 HGNC SPTBN2 6712 genome.wustl.edu 37 11 66475127 66475127 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 66475127 66475127 G A SNP SPTBN2 ENST00000309996 human ensembl 70_37 -1 known missense c.1513 p.R505W 0.997 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 SPTBN2 HGNC SRBD1 55133 genome.wustl.edu 37 2 45808930 45808930 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 45808930 45808930 G A SNP SRBD1 ENST00000263736 human ensembl 70_37 -1 known missense c.835 p.H279Y 0.903 pfam_Tex-like_N pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SRBD1 HGNC SRCAP 10847 genome.wustl.edu 37 16 30748767 30748767 + Nonsense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 30748767 30748767 C A SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known nonsense c.7406 p.S2469* 1.000 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC SRCAP 10847 genome.wustl.edu 37 16 30748823 30748823 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 30748823 30748823 C G SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known missense c.7462 p.P2488A 0.297 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC SREK1 140890 genome.wustl.edu 37 5 65454727 65454727 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 65454727 65454727 C T SNP SREK1 ENST00000522912 human ensembl 70_37 +1 known missense c.386 p.S129L 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SREK1 HGNC SRP68 6730 genome.wustl.edu 37 17 74066478 74066478 + Nonsense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 74066478 74066478 C A SNP SRP68 ENST00000307877 human ensembl 70_37 -1 known nonsense c.232 p.G78* 1.000 NULL NULL - no_errors SRP68 HGNC SRPX2 27286 genome.wustl.edu 37 X 99905897 99905897 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 99905897 99905897 C G SNP SRPX2 ENST00000481988 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SRPX2 HGNC SRRT 51593 genome.wustl.edu 37 7 100482440 100482440 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 100482440 100482440 C T SNP SRRT ENST00000388793 human ensembl 70_37 +1 known missense c.1022 p.S341F 0.821 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC SRRT 51593 genome.wustl.edu 37 7 100482939 100482939 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 100482939 100482939 C T SNP SRRT ENST00000388793 human ensembl 70_37 +1 known missense c.1262 p.S421F 1.000 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC SRRT 51593 genome.wustl.edu 37 7 100483362 100483362 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 100483362 100483362 C T SNP SRRT ENST00000388793 human ensembl 70_37 +1 known missense c.1355 p.S452L 0.994 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC SRSF9 8683 genome.wustl.edu 37 12 120903459 120903459 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 120903459 120903459 C G SNP SRSF9 ENST00000229390 human ensembl 70_37 -1 known missense c.320 p.R107T 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF9 HGNC ST6GAL1 6480 genome.wustl.edu 37 3 186793374 186793374 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 186793374 186793374 G A SNP ST6GAL1 ENST00000169298 human ensembl 70_37 +1 known missense c.1004 p.C335Y 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GAL1 HGNC ST7-OT4 338069 genome.wustl.edu 37 7 116595074 116595074 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 116595074 116595074 C G SNP ST7-OT4 ENST00000466018 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ST7-OT4 HGNC ST8SIA2 8128 genome.wustl.edu 37 15 92988086 92988086 + Nonsense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 92988086 92988086 G T SNP ST8SIA2 ENST00000268164 human ensembl 70_37 +1 known nonsense c.769 p.E257* 0.998 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA2 HGNC STARD8 9754 genome.wustl.edu 37 X 67941568 67941568 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 67941568 67941568 G C SNP STARD8 ENST00000374599 human ensembl 70_37 +1 known missense c.2439 p.K813N 1.000 superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_START_lipid-bd,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors STARD8 HGNC STAT6 6778 genome.wustl.edu 37 12 57492635 57492635 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 57492635 57492635 G C SNP STAT6 ENST00000300134 human ensembl 70_37 -1 known missense c.2006 p.S669C 0.975 NULL pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,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 STAT6 HGNC STAT6 6778 genome.wustl.edu 37 12 57493155 57493155 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 57493155 57493155 G A SNP STAT6 ENST00000300134 human ensembl 70_37 -1 known nonsense c.1813 p.R605* 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,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 STAT6 HGNC STON2 85439 genome.wustl.edu 37 14 81837384 81837384 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 81837384 81837384 G A SNP STON2 ENST00000267540 human ensembl 70_37 -1 known silent c.519 p.L173 0.223 pfam_Stonin2_N,pirsf_Stonin pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON2 HGNC STPG2 285555 genome.wustl.edu 37 4 98761974 98761974 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 98761974 98761974 G A SNP STPG2 ENST00000295268 human ensembl 70_37 -1 known missense c.1154 p.S385F 1.000 NULL NULL - no_errors STPG2 HGNC STYXL1 51657 genome.wustl.edu 37 7 75634621 75634621 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 75634621 75634621 C G SNP STYXL1 ENST00000248600 human ensembl 70_37 -1 known missense c.555 p.L185F 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors STYXL1 HGNC SUMO1 7341 genome.wustl.edu 37 2 203084816 203084816 + Nonsense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 203084816 203084816 G C SNP SUMO1 ENST00000392245 human ensembl 70_37 -1 known nonsense c.26 p.S9* 1.000 NULL pfam_SUMO,pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors SUMO1 HGNC SUPT7L 9913 genome.wustl.edu 37 2 27880316 27880316 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 27880316 27880316 C T SNP SUPT7L ENST00000337768 human ensembl 70_37 -1 known missense c.640 p.D214N 1.000 pfam_BTP,smart_BTP pfam_BTP,smart_BTP - no_errors SUPT7L HGNC SYCP2 10388 genome.wustl.edu 37 20 58452496 58452496 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 58452496 58452496 C G SNP SYCP2 ENST00000357552 human ensembl 70_37 -1 known missense c.3094 p.E1032Q 1.000 NULL NULL - no_errors SYCP2 HGNC SYN1 6853 genome.wustl.edu 37 X 47432361 47432361 + Splice_Site SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 47432361 47432361 C G SNP SYN1 ENST00000340666 human ensembl 70_37 -1 known splice_site c.1983-1 e13-1 1.000 - - - no_errors SYN1 HGNC SYNE2 23224 genome.wustl.edu 37 14 64518339 64518339 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 64518339 64518339 G C SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.7708 p.E2570Q 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 SYNE2 23224 genome.wustl.edu 37 14 64518362 64518362 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 64518362 64518362 G T SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.7731 p.L2577F 0.229 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 SYNPO2 171024 genome.wustl.edu 37 4 119958343 119958343 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 119958343 119958343 G A SNP SYNPO2 ENST00000434046 human ensembl 70_37 +1 known silent c.3329 p.*1110 0.001 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2 HGNC SYT9 143425 genome.wustl.edu 37 11 7324578 7324578 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 7324578 7324578 G A SNP SYT9 ENST00000318881 human ensembl 70_37 +1 known missense c.454 p.V152I 0.002 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 SYT9 HGNC SYTL2 54843 genome.wustl.edu 37 11 85435824 85435824 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 85435824 85435824 G A SNP SYTL2 ENST00000359152 human ensembl 70_37 -1 known missense c.3248 p.S1083L 0.001 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 85437315 85437315 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 85437315 85437315 G A SNP SYTL2 ENST00000359152 human ensembl 70_37 -1 known missense c.1757 p.S586L 0.081 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYTL2 HGNC TAAR1 134864 genome.wustl.edu 37 6 132966947 132966947 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 132966947 132966947 C T SNP TAAR1 ENST00000275216 human ensembl 70_37 -1 known missense c.196 p.A66T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Trac_amin_rcpt_1,prints_Trace_amine_rcpt - no_errors TAAR1 HGNC TAB3 257397 genome.wustl.edu 37 X 30872550 30872550 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 30872550 30872550 G A SNP TAB3 ENST00000288422 human ensembl 70_37 -1 known missense c.1232 p.S411L 1.000 NULL pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB3 HGNC TAF9 6880 genome.wustl.edu 37 5 68651483 68651483 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 68651483 68651483 C G SNP TAF9 ENST00000380822 human ensembl 70_37 -1 known missense c.319 p.E107Q 1.000 NULL pfam_ATPase_AAA_core - no_errors TAF9 HGNC TAOK3 51347 genome.wustl.edu 37 12 118590140 118590140 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 118590140 118590140 G A SNP TAOK3 ENST00000392533 human ensembl 70_37 -1 known silent c.2427 p.L809 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 TAPBPL 55080 genome.wustl.edu 37 12 6570296 6570296 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 6570296 6570296 C G SNP TAPBPL ENST00000544289 human ensembl 70_37 +1 putative rna NULL NULL 0.006 - - - no_errors TAPBPL HGNC TARM1 441864 genome.wustl.edu 37 19 54573395 54573395 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 54573395 54573395 C T SNP TARM1 ENST00000432826 human ensembl 70_37 -1 known silent c.678 p.S226 0.000 NULL smart_Ig_sub - no_errors TARM1 HGNC TATDN2 9797 genome.wustl.edu 37 3 10320145 10320145 + Missense_Mutation SNP A A G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 10320145 10320145 A G SNP TATDN2 ENST00000287652 human ensembl 70_37 +1 known missense c.2144 p.Q715R 1.000 pfam_TatD_family pfam_TatD_family - no_errors TATDN2 HGNC TBCCD1 55171 genome.wustl.edu 37 3 186274421 186274421 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 186274421 186274421 G A SNP TBCCD1 ENST00000338733 human ensembl 70_37 -1 known silent c.636 p.L212 1.000 NULL pfam_Tubulin-bd_cofactor_C,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif - no_errors TBCCD1 HGNC TBX22 50945 genome.wustl.edu 37 X 79286502 79286502 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 79286502 79286502 G C SNP TBX22 ENST00000373294 human ensembl 70_37 +1 known silent c.1455 p.L485 0.951 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX22 HGNC TBXA2R 6915 genome.wustl.edu 37 19 3600354 3600354 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 3600354 3600354 G A SNP TBXA2R ENST00000411851 human ensembl 70_37 -1 known silent c.279 p.F93 0.313 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn - no_errors TBXA2R HGNC TCF12 6938 genome.wustl.edu 37 15 57544626 57544626 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 57544626 57544626 G A SNP TCF12 ENST00000438423 human ensembl 70_37 +1 known missense c.1196 p.R399Q 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors TCF12 HGNC TCF20 6942 genome.wustl.edu 37 22 42605803 42605803 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 42605803 42605803 C T SNP TCF20 ENST00000359486 human ensembl 70_37 -1 known missense c.5509 p.E1837K 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC TCHP 84260 genome.wustl.edu 37 12 110346483 110346483 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 110346483 110346483 C T SNP TCHP ENST00000312777 human ensembl 70_37 +1 known silent c.792 p.F264 0.271 NULL NULL - no_errors TCHP HGNC TCTA 6988 genome.wustl.edu 37 3 49452402 49452402 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 49452402 49452402 G C SNP TCTA ENST00000487432 human ensembl 70_37 +1 known rna NULL NULL 0.021 - - - no_errors TCTA HGNC TDRD6 221400 genome.wustl.edu 37 6 46658902 46658902 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 46658902 46658902 G A SNP TDRD6 ENST00000316081 human ensembl 70_37 +1 known missense c.3037 p.E1013K 0.567 pfam_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC TEAD1 7003 genome.wustl.edu 37 11 12901304 12901304 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 12901304 12901304 C G SNP TEAD1 ENST00000361905 human ensembl 70_37 +1 known nonsense c.335 p.S112* 1.000 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,prints_TEA/ATTS,pfscan_TEA/ATTS - no_errors TEAD1 HGNC TENM2 57451 genome.wustl.edu 37 5 167675223 167675223 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 167675223 167675223 C G SNP TENM2 ENST00000518659 human ensembl 70_37 +1 known missense c.7279 p.Q2427E 0.999 tigrfam_Rhs_assc_core pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC TERF1 7013 genome.wustl.edu 37 8 73932993 73932993 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 73932993 73932993 G C SNP TERF1 ENST00000276603 human ensembl 70_37 +1 known missense c.490 p.E164Q 0.971 pfam_Telomere_rpt-bd_fac_dimer_dom,superfamily_Telomere_rpt-bd_fac_dimer_dom,pirsf_Telomere_repeat-bd-1/2 pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom - no_errors TERF1 HGNC TERF1 7013 genome.wustl.edu 37 8 73958219 73958219 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 73958219 73958219 G C SNP TERF1 ENST00000276603 human ensembl 70_37 +1 known missense c.1167 p.K389N 0.661 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom - no_errors TERF1 HGNC TFAP2D 83741 genome.wustl.edu 37 6 50683114 50683114 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 50683114 50683114 G A SNP TFAP2D ENST00000008391 human ensembl 70_37 +1 known missense c.325 p.E109K 1.000 NULL pfam_TF_AP2_C,prints_TF_AP2_C - no_errors TFAP2D HGNC TFEC 22797 genome.wustl.edu 37 7 115624472 115624472 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 115624472 115624472 G C SNP TFEC ENST00000265440 human ensembl 70_37 -1 known missense c.24 p.I8M 0.175 NULL pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors TFEC HGNC THAP9 79725 genome.wustl.edu 37 4 83839307 83839307 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 83839307 83839307 C G SNP THAP9 ENST00000302236 human ensembl 70_37 +1 known missense c.1942 p.Q648E 0.017 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP9 HGNC THOC3 84321 genome.wustl.edu 37 5 175395167 175395167 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 175395167 175395167 C G SNP THOC3 ENST00000265097 human ensembl 70_37 -1 known missense c.45 p.Q15H 0.941 NULL 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 THUMPD3 25917 genome.wustl.edu 37 3 9412758 9412758 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 9412758 9412758 G C SNP THUMPD3 ENST00000345094 human ensembl 70_37 +1 known missense c.345 p.K115N 1.000 NULL pfam_RNA_methylase_dom,pfam_THUMP,smart_THUMP,pfscan_THUMP - no_errors THUMPD3 HGNC THUMPD3 25917 genome.wustl.edu 37 3 9412866 9412866 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 9412866 9412866 G C SNP THUMPD3 ENST00000345094 human ensembl 70_37 +1 known missense c.453 p.Q151H 0.000 NULL pfam_RNA_methylase_dom,pfam_THUMP,smart_THUMP,pfscan_THUMP - no_errors THUMPD3 HGNC TIMP2 7077 genome.wustl.edu 37 17 76867018 76867018 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 76867018 76867018 G A SNP TIMP2 ENST00000262768 human ensembl 70_37 -1 known missense c.302 p.S101L 1.000 pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain - no_errors TIMP2 HGNC TJP1 7082 genome.wustl.edu 37 15 30034879 30034879 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 30034879 30034879 C G SNP TJP1 ENST00000346128 human ensembl 70_37 -1 known missense c.1117 p.E373Q 0.924 prints_ZonOcculS1 pfam_PDZ,pfam_ZU5,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC TKTL2 84076 genome.wustl.edu 37 4 164394281 164394281 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 164394281 164394281 G A SNP TKTL2 ENST00000280605 human ensembl 70_37 -1 known silent c.606 p.I202 0.007 pfam_Transketolase_N,pfam_DH_E1 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 TKTL2 HGNC TLE2 7089 genome.wustl.edu 37 19 3025051 3025051 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 3025051 3025051 G C SNP TLE2 ENST00000262953 human ensembl 70_37 -1 known missense c.261 p.I87M 1.000 pfam_Groucho/TLE_N pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE2 HGNC TLE6 79816 genome.wustl.edu 37 19 2987353 2987353 + Splice_Site SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 2987353 2987353 G A SNP TLE6 ENST00000246112 human ensembl 70_37 +1 known splice_site c.542-1 e7-1 0.122 - - - no_errors TLE6 HGNC TLN2 83660 genome.wustl.edu 37 15 62966062 62966062 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 62966062 62966062 G A SNP TLN2 ENST00000306829 human ensembl 70_37 +1 known silent c.825 p.Q275 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_Talin_cent,pfam_ILWEQ,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ - no_errors TLN2 HGNC TLR5 7100 genome.wustl.edu 37 1 223285705 223285705 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 223285705 223285705 G C SNP TLR5 ENST00000342210 human ensembl 70_37 -1 known missense c.669 p.F223L 1.000 NULL pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR5 HGNC TLR5 7100 genome.wustl.edu 37 1 223285920 223285920 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 223285920 223285920 G C SNP TLR5 ENST00000342210 human ensembl 70_37 -1 known missense c.454 p.L152V 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR5 HGNC TM6SF2 53345 genome.wustl.edu 37 19 19379487 19379487 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 19379487 19379487 C T SNP TM6SF2 ENST00000389363 human ensembl 70_37 -1 known missense c.561 p.M187I 0.013 NULL pfam_Transmembrane_6/97 - no_errors TM6SF2 HGNC TMEM101 84336 genome.wustl.edu 37 17 42089344 42089344 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 42089344 42089344 C G SNP TMEM101 ENST00000206380 human ensembl 70_37 -1 known missense c.726 p.E242D 1.000 NULL NULL - no_errors TMEM101 HGNC TMEM101 84336 genome.wustl.edu 37 17 42090494 42090494 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 42090494 42090494 G A SNP TMEM101 ENST00000206380 human ensembl 70_37 -1 known silent c.348 p.I116 1.000 NULL NULL - no_errors TMEM101 HGNC TMEM132B 114795 genome.wustl.edu 37 12 126138738 126138738 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 126138738 126138738 G A SNP TMEM132B ENST00000299308 human ensembl 70_37 +1 known missense c.2719 p.V907I 1.000 NULL NULL - no_errors TMEM132B HGNC TMEM145 284339 genome.wustl.edu 37 19 42827764 42827764 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 42827764 42827764 G C SNP TMEM145 ENST00000301204 human ensembl 70_37 +1 known missense c.1224 p.K408N 1.000 NULL pfam_Rhodopsin-like_GPCR_TM_domain - no_errors TMEM145 HGNC TMEM168 64418 genome.wustl.edu 37 7 112424578 112424578 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 112424578 112424578 G A SNP TMEM168 ENST00000312814 human ensembl 70_37 -1 known silent c.303 p.F101 0.999 NULL superfamily_ConA-like_lec_gl_sf - no_errors TMEM168 HGNC TMEM214 54867 genome.wustl.edu 37 2 27260521 27260521 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 27260521 27260521 C G SNP TMEM214 ENST00000238788 human ensembl 70_37 +1 known missense c.1103 p.S368C 1.000 pfam_DUF2359_TMEM214 pfam_DUF2359_TMEM214 - no_errors TMEM214 HGNC TMEM92 162461 genome.wustl.edu 37 17 48356300 48356300 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 48356300 48356300 C T SNP TMEM92 ENST00000300433 human ensembl 70_37 +1 known silent c.309 p.I103 0.000 NULL NULL - no_errors TMEM92 HGNC TMEM92 162461 genome.wustl.edu 37 17 48356377 48356377 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 48356377 48356377 C G SNP TMEM92 ENST00000511882 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TMEM92 HGNC TMEM92 162461 genome.wustl.edu 37 17 48356666 48356666 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 48356666 48356666 C G SNP TMEM92 ENST00000300433 human ensembl 70_37 +1 known missense c.477 p.F159L 1.000 NULL NULL - no_errors TMEM92 HGNC TMPRSS7 344805 genome.wustl.edu 37 3 111766716 111766716 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 111766716 111766716 C G SNP TMPRSS7 ENST00000419127 human ensembl 70_37 +1 known silent c.483 p.L161 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_Peptidase_S1_S6,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS7 HGNC TMTC3 160418 genome.wustl.edu 37 12 88589037 88589037 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 88589037 88589037 G C SNP TMTC3 ENST00000266712 human ensembl 70_37 +1 known missense c.2356 p.D786H 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR-1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC3 HGNC TNFRSF11B 4982 genome.wustl.edu 37 8 119936712 119936712 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 119936712 119936712 G C SNP TNFRSF11B ENST00000297350 human ensembl 70_37 -1 known missense c.1107 p.I369M 0.756 superfamily_DEATH-like,pirsf_TNFR_11B pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pirsf_TNFR_11B,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_11B,prints_TNFR_11 - no_errors TNFRSF11B HGNC TNFRSF13B 23495 genome.wustl.edu 37 17 16852118 16852118 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 16852118 16852118 C T SNP TNFRSF13B ENST00000261652 human ensembl 70_37 -1 known missense c.379 p.E127K 0.001 NULL pfam_TACI_Cys-rich-dom,prints_TNFR_13B - no_errors TNFRSF13B HGNC TNS3 64759 genome.wustl.edu 37 7 47451364 47451364 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 47451364 47451364 G A SNP TNS3 ENST00000311160 human ensembl 70_37 -1 known silent c.684 p.I228 0.010 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tensin_phosphatase_C2-dom pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC TOMM40L 84134 genome.wustl.edu 37 1 161198386 161198386 + RNA SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 161198386 161198386 C A SNP TOMM40L ENST00000475793 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TOMM40L HGNC TRA2A 29896 genome.wustl.edu 37 7 23556088 23556088 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 23556088 23556088 G C SNP TRA2A ENST00000297071 human ensembl 70_37 -1 known missense c.230 p.S77C 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TRA2A HGNC TRIM25 7706 genome.wustl.edu 37 17 54969328 54969328 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 54969328 54969328 G A SNP TRIM25 ENST00000316881 human ensembl 70_37 -1 known silent c.1626 p.L542 0.987 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,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 TRIM25 HGNC TRIM46 80128 genome.wustl.edu 37 1 155156672 155156672 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 155156672 155156672 C T SNP TRIM46 ENST00000468878 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TRIM46 HGNC TRIM52 84851 genome.wustl.edu 37 5 180687439 180687439 + Nonsense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 180687439 180687439 C A SNP TRIM52 ENST00000327767 human ensembl 70_37 -1 known nonsense c.376 p.E126* 0.358 smart_Znf_RING pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM52 HGNC TROVE2 6738 genome.wustl.edu 37 1 193044963 193044963 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 193044963 193044963 G C SNP TROVE2 ENST00000367441 human ensembl 70_37 +1 known silent c.594 p.V198 0.994 pfam_TROVE,pfscan_TROVE pfam_TROVE,pfscan_TROVE - no_errors TROVE2 HGNC TRPC4 7223 genome.wustl.edu 37 13 38266217 38266217 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 13 38266217 38266217 G A SNP TRPC4 ENST00000379681 human ensembl 70_37 -1 known nonsense c.1153 p.Q385* 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC TRPC5 7224 genome.wustl.edu 37 X 111155612 111155612 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 111155612 111155612 G C SNP TRPC5 ENST00000262839 human ensembl 70_37 -1 known silent c.807 p.L269 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC TRPM1 4308 genome.wustl.edu 37 15 31295118 31295118 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 31295118 31295118 G C SNP TRPM1 ENST00000542188 human ensembl 70_37 -1 known missense c.3836 p.S1279C 0.020 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC TRPM8 79054 genome.wustl.edu 37 2 234873287 234873287 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 234873287 234873287 C G SNP TRPM8 ENST00000324695 human ensembl 70_37 +1 known missense c.1765 p.L589V 0.617 NULL pfam_Ion_trans_dom - no_errors TRPM8 HGNC TSC22D4 81628 genome.wustl.edu 37 7 100074917 100074917 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 100074917 100074917 G C SNP TSC22D4 ENST00000300181 human ensembl 70_37 -1 known missense c.745 p.P249A 1.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D4 HGNC TSPAN4 7106 genome.wustl.edu 37 11 865927 865927 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 865927 865927 G A SNP TSPAN4 ENST00000397397 human ensembl 70_37 +1 known missense c.574 p.E192K 0.993 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN4 HGNC TTBK1 84630 genome.wustl.edu 37 6 43221331 43221331 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 43221331 43221331 G A SNP TTBK1 ENST00000259750 human ensembl 70_37 +1 known missense c.356 p.R119H 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 TTBK1 HGNC TTLL11 158135 genome.wustl.edu 37 9 124794028 124794028 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 124794028 124794028 C T SNP TTLL11 ENST00000321582 human ensembl 70_37 -1 known missense c.937 p.D313N 1.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL11 HGNC TTN 7273 genome.wustl.edu 37 2 179409108 179409108 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 179409108 179409108 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.88144 p.E29382Q 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 179418668 179418668 + Nonsense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 179418668 179418668 C A SNP TTN ENST00000342992 human ensembl 70_37 -1 known nonsense c.81466 p.E27156* 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,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 179444759 179444759 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 179444759 179444759 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.59551 p.E19851Q 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 179542477 179542477 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 179542477 179542477 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.30430 p.E10144K 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom 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 179542501 179542501 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 179542501 179542501 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.30406 p.E10136Q 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom 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 179592954 179592954 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 179592954 179592954 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.15865 p.E5289K 1.000 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 TUBA1C 84790 genome.wustl.edu 37 12 49582664 49582664 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 49582664 49582664 G C SNP TUBA1C ENST00000549554 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TUBA1C HGNC TUBB2B 347733 genome.wustl.edu 37 6 3224671 3224671 + RNA SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 3224671 3224671 C A SNP TUBB2B ENST00000473006 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TUBB2B HGNC TUBGCP6 85378 genome.wustl.edu 37 22 50657019 50657019 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 22 50657019 50657019 C T SNP TUBGCP6 ENST00000248846 human ensembl 70_37 -1 known missense c.4852 p.E1618K 1.000 pfam_Spc97_Spc98 pfam_Spc97_Spc98 - no_errors TUBGCP6 HGNC TXK 7294 genome.wustl.edu 37 4 48073610 48073610 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 48073610 48073610 G C SNP TXK ENST00000264316 human ensembl 70_37 -1 known missense c.1439 p.S480C 0.998 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors TXK HGNC TXNDC16 57544 genome.wustl.edu 37 14 52907355 52907355 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 52907355 52907355 G C SNP TXNDC16 ENST00000281741 human ensembl 70_37 -1 known missense c.1930 p.Q644E 0.042 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC16 HGNC TYMS 7298 genome.wustl.edu 37 18 672892 672892 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 18 672892 672892 C G SNP TYMS ENST00000323274 human ensembl 70_37 +1 known silent c.837 p.L279 1.000 pfam_Thymidylate_synthase,superfamily_Thymidate_synth/dCMP_Mease,tigrfam_Thymidylate_synthase pfam_Thymidylate_synthase,superfamily_Thymidate_synth/dCMP_Mease,prints_Thymidylate_synthase,tigrfam_Thymidylate_synthase - no_errors TYMS HGNC UBR4 23352 genome.wustl.edu 37 1 19436940 19436940 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 19436940 19436940 C T SNP UBR4 ENST00000375267 human ensembl 70_37 -1 known missense c.11911 p.E3971K 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC UBR5 51366 genome.wustl.edu 37 8 103338802 103338802 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 103338802 103338802 G A SNP UBR5 ENST00000520539 human ensembl 70_37 -1 known missense c.1571 p.S524L 1.000 NULL 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 UBXN4 23190 genome.wustl.edu 37 2 136499524 136499524 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 136499524 136499524 C T SNP UBXN4 ENST00000272638 human ensembl 70_37 +1 known missense c.25 p.P9S 1.000 superfamily_Thioredoxin-like_fold pfam_UBX,superfamily_Thioredoxin-like_fold,smart_UBX,pfscan_UBX - no_errors UBXN4 HGNC UGP2 7360 genome.wustl.edu 37 2 64117251 64117251 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 64117251 64117251 G C SNP UGP2 ENST00000337130 human ensembl 70_37 +1 known missense c.1351 p.D451H 1.000 pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr - no_errors UGP2 HGNC UGP2 7360 genome.wustl.edu 37 2 64117260 64117260 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 64117260 64117260 G C SNP UGP2 ENST00000337130 human ensembl 70_37 +1 known missense c.1360 p.E454Q 1.000 pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr - no_errors UGP2 HGNC UGT1A6 54578 genome.wustl.edu 37 2 234601815 234601815 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 234601815 234601815 G A SNP UGT1A6 ENST00000305139 human ensembl 70_37 +1 known silent c.165 p.E55 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A6 HGNC UGT2A1 10941 genome.wustl.edu 37 4 70460216 70460216 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 70460216 70460216 C T SNP UGT2A1 ENST00000457664 human ensembl 70_37 -1 known missense c.1310 p.R437K 0.870 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2A1 HGNC UNC79 57578 genome.wustl.edu 37 14 94066945 94066945 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 14 94066945 94066945 G C SNP UNC79 ENST00000553484 human ensembl 70_37 +1 known missense c.3403 p.D1135H 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors UNC79 HGNC UNC80 285175 genome.wustl.edu 37 2 210640689 210640689 + Missense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 210640689 210640689 C A SNP UNC80 ENST00000439458 human ensembl 70_37 +1 known missense c.218 p.S73Y 1.000 NULL NULL - no_errors UNC80 HGNC UPF1 5976 genome.wustl.edu 37 19 18974274 18974274 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 18974274 18974274 G A SNP UPF1 ENST00000599848 human ensembl 70_37 +1 known silent c.2661 p.P887 0.170 NULL pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom - no_errors UPF1 HGNC USP26 83844 genome.wustl.edu 37 X 132159901 132159901 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 132159901 132159901 G C SNP USP26 ENST00000370832 human ensembl 70_37 -1 known missense c.2348 p.S783C 0.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP26 HGNC USP37 57695 genome.wustl.edu 37 2 219330900 219330900 + Splice_Site SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 219330900 219330900 C A SNP USP37 ENST00000258399 human ensembl 70_37 -1 known splice_site c.2300-1 e18-1 1.000 - - - no_errors USP37 HGNC USP39 10713 genome.wustl.edu 37 2 85876361 85876361 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 85876361 85876361 G C SNP USP39 ENST00000459775 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors USP39 HGNC USP48 84196 genome.wustl.edu 37 1 22050544 22050544 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 22050544 22050544 C G SNP USP48 ENST00000308271 human ensembl 70_37 -1 known missense c.1495 p.D499H 1.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC VAMP5 10791 genome.wustl.edu 37 2 85820264 85820264 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 85820264 85820264 C G SNP VAMP5 ENST00000306384 human ensembl 70_37 +1 known nonsense c.335 p.S112* 0.050 NULL pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,pfscan_Synaptobrevin,prints_Synaptobrevin - no_errors VAMP5 HGNC VARS 7407 genome.wustl.edu 37 6 31749935 31749935 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 31749935 31749935 G A SNP VARS ENST00000375663 human ensembl 70_37 -1 known nonsense c.2170 p.Q724* 1.000 pfam_aa-tRNA-synth_Ia,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS HGNC VPRBP 9730 genome.wustl.edu 37 3 51458162 51458162 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 51458162 51458162 G A SNP VPRBP ENST00000335891 human ensembl 70_37 -1 known silent c.915 p.I305 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors VPRBP HGNC VPS13D 55187 genome.wustl.edu 37 1 12343083 12343083 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 12343083 12343083 C T SNP VPS13D ENST00000358136 human ensembl 70_37 +1 known missense c.4924 p.L1642F 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 12557624 12557624 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 12557624 12557624 G C SNP VPS13D ENST00000358136 human ensembl 70_37 +1 known missense c.12733 p.E4245Q 0.998 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 VPS35 55737 genome.wustl.edu 37 16 46706273 46706273 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 46706273 46706273 G A SNP VPS35 ENST00000299138 human ensembl 70_37 -1 known silent c.1272 p.L424 0.998 pfam_VPS35,superfamily_ARM-type_fold pfam_VPS35,superfamily_ARM-type_fold - no_errors VPS35 HGNC VPS37D 155382 genome.wustl.edu 37 7 73084430 73084430 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 73084430 73084430 G C SNP VPS37D ENST00000324941 human ensembl 70_37 +1 known missense c.391 p.E131Q 1.000 pfam_Mod_r pfam_Mod_r - no_errors VPS37D HGNC WBP1 23559 genome.wustl.edu 37 2 74685709 74685709 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 74685709 74685709 C T SNP WBP1 ENST00000464774 human ensembl 70_37 +1 known rna NULL NULL 0.993 - - - no_errors WBP1 HGNC WBP1 23559 genome.wustl.edu 37 2 74685750 74685750 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 74685750 74685750 G C SNP WBP1 ENST00000233615 human ensembl 70_37 +1 known silent c.21 p.G7 0.999 NULL pfam_Uncharacterised_WW-bd - no_errors WBP1 HGNC WBP1 23559 genome.wustl.edu 37 2 74686631 74686631 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 74686631 74686631 C G SNP WBP1 ENST00000464774 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors WBP1 HGNC WBSCR17 64409 genome.wustl.edu 37 7 71134986 71134986 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 71134986 71134986 C T SNP WBSCR17 ENST00000333538 human ensembl 70_37 +1 known silent c.1296 p.S432 0.011 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 WDFY4 57705 genome.wustl.edu 37 10 49939252 49939252 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 49939252 49939252 C T SNP WDFY4 ENST00000325239 human ensembl 70_37 +1 known silent c.1227 p.I409 0.998 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC WDR24 84219 genome.wustl.edu 37 16 739196 739196 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 739196 739196 C G SNP WDR24 ENST00000248142 human ensembl 70_37 -1 known missense c.631 p.D211H 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 - no_errors WDR24 HGNC WDR24 84219 genome.wustl.edu 37 16 739992 739992 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 739992 739992 C T SNP WDR24 ENST00000248142 human ensembl 70_37 -1 known missense c.169 p.D57N 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR24 HGNC WDR26 80232 genome.wustl.edu 37 1 224621580 224621580 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 224621580 224621580 G A SNP WDR26 ENST00000414423 human ensembl 70_37 -1 known silent c.228 p.V76 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR26 HGNC WDR33 55339 genome.wustl.edu 37 2 128464072 128464072 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 128464072 128464072 G C SNP WDR33 ENST00000322313 human ensembl 70_37 -1 known missense c.3836 p.S1279C 1.000 NULL pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC WDR36 134430 genome.wustl.edu 37 5 110428117 110428117 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 110428117 110428117 C G SNP WDR36 ENST00000506538 human ensembl 70_37 +1 known nonsense c.131 p.S44* 0.000 NULL pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR36 HGNC WDR47 22911 genome.wustl.edu 37 1 109553686 109553686 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 109553686 109553686 C T SNP WDR47 ENST00000400794 human ensembl 70_37 -1 known missense c.1003 p.D335N 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR47 HGNC WDR86 349136 genome.wustl.edu 37 7 151074056 151074056 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 151074056 151074056 G C SNP WDR86 ENST00000463000 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors WDR86 HGNC WDR93 56964 genome.wustl.edu 37 15 90276398 90276398 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 15 90276398 90276398 C G SNP WDR93 ENST00000268130 human ensembl 70_37 +1 known missense c.1492 p.L498V 0.965 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors WDR93 HGNC WIZ 58525 genome.wustl.edu 37 19 15540510 15540510 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 15540510 15540510 G A SNP WIZ ENST00000389282 human ensembl 70_37 -1 known missense c.2987 p.S996F 0.994 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC WNK3 65267 genome.wustl.edu 37 X 54264792 54264792 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 54264792 54264792 G A SNP WNK3 ENST00000354646 human ensembl 70_37 -1 known nonsense c.3997 p.Q1333* 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK3 HGNC WTAP 9589 genome.wustl.edu 37 6 160176556 160176556 + Silent SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 160176556 160176556 G C SNP WTAP ENST00000358372 human ensembl 70_37 +1 known silent c.1104 p.V368 1.000 NULL NULL - no_errors WTAP HGNC XIRP2 129446 genome.wustl.edu 37 2 168067270 168067270 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 168067270 168067270 G A SNP XIRP2 ENST00000295237 human ensembl 70_37 +1 known silent c.588 p.E196 0.000 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC XK 7504 genome.wustl.edu 37 X 37545231 37545231 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 37545231 37545231 C T SNP XK ENST00000378616 human ensembl 70_37 +1 known missense c.17 p.S6L 0.992 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XK HGNC XKR7 343702 genome.wustl.edu 37 20 30585105 30585105 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 30585105 30585105 C T SNP XKR7 ENST00000217299 human ensembl 70_37 +1 known missense c.1585 p.R529C 0.900 NULL pfam_Transport_prot_XK - no_errors XKR7 HGNC XRN2 22803 genome.wustl.edu 37 20 21284093 21284093 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 21284093 21284093 C T SNP XRN2 ENST00000377191 human ensembl 70_37 +1 known silent c.57 p.V19 1.000 pfam_Put_53exo,pirsf_5_3_exoribonuclease_2 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 - no_errors XRN2 HGNC XRRA1 143570 genome.wustl.edu 37 11 74651876 74651876 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 11 74651876 74651876 C G SNP XRRA1 ENST00000340360 human ensembl 70_37 -1 known silent c.48 p.L16 0.935 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC XYLT2 64132 genome.wustl.edu 37 17 48432882 48432882 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 48432882 48432882 C T SNP XYLT2 ENST00000017003 human ensembl 70_37 +1 known missense c.1028 p.A343V 0.997 pfam_Glyco_trans_14 pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC YIPF3 25844 genome.wustl.edu 37 6 43483440 43483440 + Splice_Site SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 43483440 43483440 C T SNP YIPF3 ENST00000372422 human ensembl 70_37 -1 known splice_site c.289-1 e3-1 1.000 - - - no_errors YIPF3 HGNC YTHDC1 91746 genome.wustl.edu 37 4 69203421 69203421 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 4 69203421 69203421 C G SNP YTHDC1 ENST00000344157 human ensembl 70_37 -1 known missense c.328 p.D110H 0.997 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC ZAK 51776 genome.wustl.edu 37 2 174074485 174074485 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 174074485 174074485 C G SNP ZAK ENST00000375213 human ensembl 70_37 +1 known nonsense c.773 p.S258* 1.000 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_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLTK Uniprot_genename ZAR1L 646799 genome.wustl.edu 37 13 32885681 32885681 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 13 32885681 32885681 G T SNP ZAR1L ENST00000345108 human ensembl 70_37 -1 known missense c.382 p.P128T 0.000 NULL NULL - no_errors ZAR1L HGNC ZBBX 79740 genome.wustl.edu 37 3 167051764 167051764 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 167051764 167051764 G C SNP ZBBX ENST00000307529 human ensembl 70_37 -1 known missense c.538 p.Q180E 0.999 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ZBTB17 7709 genome.wustl.edu 37 1 16272682 16272682 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 16272682 16272682 C G SNP ZBTB17 ENST00000375733 human ensembl 70_37 -1 known missense c.502 p.E168Q 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ZBTB40 9923 genome.wustl.edu 37 1 22817950 22817950 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 22817950 22817950 C G SNP ZBTB40 ENST00000375647 human ensembl 70_37 +1 known nonsense c.755 p.S252* 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB40 HGNC ZC3H11A 9877 genome.wustl.edu 37 1 203770893 203770893 + RNA SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 1 203770893 203770893 C G SNP ZC3H11A ENST00000461980 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ZC3H11A HGNC ZFHX4 79776 genome.wustl.edu 37 8 77767525 77767525 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 77767525 77767525 G A SNP ZFHX4 ENST00000521891 human ensembl 70_37 +1 known missense c.8368 p.E2790K 0.998 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 ZFHX4 79776 genome.wustl.edu 37 8 77776073 77776073 + Nonsense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 77776073 77776073 G T SNP ZFHX4 ENST00000521891 human ensembl 70_37 +1 known nonsense c.10123 p.E3375* 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 ZFP2 80108 genome.wustl.edu 37 5 178358759 178358759 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 178358759 178358759 C G SNP ZFP2 ENST00000361362 human ensembl 70_37 +1 known missense c.445 p.Q149E 0.998 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP2 HGNC ZHX1 11244 genome.wustl.edu 37 8 124266326 124266326 + Nonsense_Mutation SNP T T A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 124266326 124266326 T A SNP ZHX1 ENST00000297857 human ensembl 70_37 -1 known nonsense c.1861 p.K621* 1.000 superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZHX1 HGNC ZHX1 11244 genome.wustl.edu 37 8 124266335 124266335 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 124266335 124266335 C G SNP ZHX1 ENST00000297857 human ensembl 70_37 -1 known missense c.1852 p.E618Q 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZHX1 HGNC ZKSCAN4 387032 genome.wustl.edu 37 6 28213016 28213016 + Nonsense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 6 28213016 28213016 G A SNP ZKSCAN4 ENST00000377294 human ensembl 70_37 -1 known nonsense c.1516 p.Q506* 0.922 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN4 HGNC ZMYND10 51364 genome.wustl.edu 37 3 50382636 50382636 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 3 50382636 50382636 C T SNP ZMYND10 ENST00000231749 human ensembl 70_37 -1 known silent c.120 p.E40 1.000 pirsf_UCP037948_Znf-MYND pfam_Znf_MYND,pirsf_UCP037948_Znf-MYND,pfscan_Znf_MYND - no_errors ZMYND10 HGNC ZNF234 10780 genome.wustl.edu 37 19 44660768 44660768 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 44660768 44660768 G C SNP ZNF234 ENST00000426739 human ensembl 70_37 +1 known missense c.599 p.G200A 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF234 HGNC ZNF251 90987 genome.wustl.edu 37 8 145948193 145948193 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 145948193 145948193 C G SNP ZNF251 ENST00000292562 human ensembl 70_37 -1 known silent c.852 p.R284 0.995 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 ZNF251 HGNC ZNF252P-AS1 286103 genome.wustl.edu 37 8 146228392 146228392 + RNA SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 146228392 146228392 C T SNP ZNF252P-AS1 ENST00000527067 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors ZNF252P-AS1 HGNC ZNF275 10838 genome.wustl.edu 37 X 152612885 152612885 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 152612885 152612885 G A SNP ZNF275 ENST00000440091 human ensembl 70_37 +1 known missense c.832 p.D278N 0.385 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 ZNF275 HGNC ZNF275 10838 genome.wustl.edu 37 X 152612967 152612967 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 X 152612967 152612967 G A SNP ZNF275 ENST00000440091 human ensembl 70_37 +1 known missense c.914 p.R305Q 0.384 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 ZNF275 HGNC ZNF335 63925 genome.wustl.edu 37 20 44582415 44582415 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 44582415 44582415 G A SNP ZNF335 ENST00000322927 human ensembl 70_37 -1 known missense c.2615 p.A872V 0.967 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF335 HGNC ZNF34 80778 genome.wustl.edu 37 8 145998765 145998765 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 145998765 145998765 C T SNP ZNF34 ENST00000343459 human ensembl 70_37 -1 known silent c.1569 p.R523 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF34 HGNC ZNF354C 30832 genome.wustl.edu 37 5 178505884 178505884 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 5 178505884 178505884 G A SNP ZNF354C ENST00000315475 human ensembl 70_37 +1 known missense c.451 p.E151K 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 ZNF354C HGNC ZNF358 140467 genome.wustl.edu 37 19 7584332 7584332 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 7584332 7584332 G A SNP ZNF358 ENST00000394341 human ensembl 70_37 +1 known silent c.204 p.S68 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF358 HGNC ZNF415 55786 genome.wustl.edu 37 19 53612192 53612192 + Nonsense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 53612192 53612192 G C SNP ZNF415 ENST00000448501 human ensembl 70_37 -1 known nonsense c.1250 p.S417* 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2 - no_errors ZNF415 HGNC ZNF419 79744 genome.wustl.edu 37 19 58004813 58004813 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 58004813 58004813 C G SNP ZNF419 ENST00000424930 human ensembl 70_37 +1 known missense c.891 p.F297L 0.042 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 ZNF419 HGNC ZNF467 168544 genome.wustl.edu 37 7 149466212 149466212 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 149466212 149466212 C G SNP ZNF467 ENST00000302017 human ensembl 70_37 -1 known missense c.229 p.A77P 0.862 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF467 HGNC ZNF480 147657 genome.wustl.edu 37 19 52819093 52819093 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 52819093 52819093 C G SNP ZNF480 ENST00000468240 human ensembl 70_37 +1 known missense c.206 p.S69C 0.001 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 ZNF480 HGNC ZNF488 118738 genome.wustl.edu 37 10 48370600 48370600 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 10 48370600 48370600 G C SNP ZNF488 ENST00000395702 human ensembl 70_37 +1 known missense c.68 p.G23A 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF488 HGNC ZNF512 84450 genome.wustl.edu 37 2 27830880 27830880 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 27830880 27830880 C G SNP ZNF512 ENST00000355467 human ensembl 70_37 +1 known missense c.1105 p.Q369E 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512 HGNC ZNF517 340385 genome.wustl.edu 37 8 146032959 146032959 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 8 146032959 146032959 C T SNP ZNF517 ENST00000359971 human ensembl 70_37 +1 known silent c.658 p.L220 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 ZNF517 HGNC ZNF527 84503 genome.wustl.edu 37 19 37865089 37865089 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 37865089 37865089 G A SNP ZNF527 ENST00000589615 human ensembl 70_37 +1 known rna NULL NULL 0.919 - - - no_errors ZNF527 HGNC ZNF527 84503 genome.wustl.edu 37 19 37865092 37865092 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 37865092 37865092 G A SNP ZNF527 ENST00000589615 human ensembl 70_37 +1 known rna NULL NULL 0.805 - - - no_errors ZNF527 HGNC ZNF563 147837 genome.wustl.edu 37 19 12432090 12432090 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 12432090 12432090 G A SNP ZNF563 ENST00000293725 human ensembl 70_37 -1 known silent c.187 p.L63 0.558 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 ZNF563 HGNC ZNF574 64763 genome.wustl.edu 37 19 42584616 42584616 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 42584616 42584616 C T SNP ZNF574 ENST00000222339 human ensembl 70_37 +1 known missense c.2128 p.R710W 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF574 HGNC ZNF618 114991 genome.wustl.edu 37 9 116812073 116812073 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 116812073 116812073 G A SNP ZNF618 ENST00000374126 human ensembl 70_37 +1 known missense c.2491 p.E831K 1.000 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF618 HGNC ZNF638 27332 genome.wustl.edu 37 2 71576778 71576778 + Missense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 71576778 71576778 G C SNP ZNF638 ENST00000264447 human ensembl 70_37 +1 known missense c.694 p.E232Q 1.000 NULL pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors ZNF638 HGNC ZNF638 27332 genome.wustl.edu 37 2 71620688 71620688 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 2 71620688 71620688 G A SNP ZNF638 ENST00000544512 human ensembl 70_37 +1 known silent c.2961 p.K987 0.760 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ZNF638 HGNC ZNF664 144348 genome.wustl.edu 37 12 124497247 124497247 + Missense_Mutation SNP C C A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 12 124497247 124497247 C A SNP ZNF664 ENST00000337815 human ensembl 70_37 +1 known missense c.556 p.L186I 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF664 HGNC ZNF676 163223 genome.wustl.edu 37 19 22364025 22364025 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 22364025 22364025 C G SNP ZNF676 ENST00000397121 human ensembl 70_37 -1 known missense c.494 p.R165T 0.936 NULL pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ZNF709 163051 genome.wustl.edu 37 19 12606284 12606284 + RNA SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 12606284 12606284 G C SNP ZNF709 ENST00000493776 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF709 HGNC ZNF729 100287226 genome.wustl.edu 37 19 22497341 22497341 + Missense_Mutation SNP A A C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 22497341 22497341 A C SNP ZNF729 ENST00000601693 human ensembl 70_37 +1 novel missense c.1122 p.K374N 0.546 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 ZNF729 HGNC ZNF749 388567 genome.wustl.edu 37 19 57956145 57956145 + Silent SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 57956145 57956145 C G SNP ZNF749 ENST00000334181 human ensembl 70_37 +1 known silent c.1629 p.L543 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 ZNF749 HGNC ZNF767 79970 genome.wustl.edu 37 7 149250078 149250078 + RNA SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 7 149250078 149250078 G A SNP ZNF767 ENST00000463567 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors ZNF767 HGNC ZNF782 158431 genome.wustl.edu 37 9 99580528 99580528 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 9 99580528 99580528 C G SNP ZNF782 ENST00000481138 human ensembl 70_37 -1 known missense c.1777 p.E593Q 0.374 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 ZNF782 HGNC ZNF785 146540 genome.wustl.edu 37 16 30594342 30594342 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 30594342 30594342 C T SNP ZNF785 ENST00000395216 human ensembl 70_37 -1 known missense c.757 p.E253K 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF785 HGNC ZNF785 146540 genome.wustl.edu 37 16 30596840 30596840 + Missense_Mutation SNP G G T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 16 30596840 30596840 G T SNP ZNF785 ENST00000395216 human ensembl 70_37 -1 known missense c.93 p.F31L 0.323 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 ZNF785 HGNC ZNF808 388558 genome.wustl.edu 37 19 53056534 53056534 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 53056534 53056534 G A SNP ZNF808 ENST00000359798 human ensembl 70_37 +1 known missense c.365 p.R122K 0.004 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 ZNF808 HGNC ZNF814 730051 genome.wustl.edu 37 19 58385113 58385113 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 58385113 58385113 C G SNP ZNF814 ENST00000435989 human ensembl 70_37 -1 known missense c.1645 p.E549Q 0.124 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 ZNF814 HGNC ZNF845 91664 genome.wustl.edu 37 19 53855360 53855360 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 19 53855360 53855360 C G SNP ZNF845 ENST00000458035 human ensembl 70_37 +1 known missense c.1432 p.Q478E 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 ZNF845 HGNC ZNFX1 57169 genome.wustl.edu 37 20 47871106 47871106 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 20 47871106 47871106 C G SNP ZNFX1 ENST00000371752 human ensembl 70_37 -1 known missense c.2885 p.R962T 1.000 NULL superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ZZEF1 23140 genome.wustl.edu 37 17 3928305 3928305 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5be7200e-4af1-4936-8f1e-5ada6dc89179 f578da11-7920-4c6b-90b0-e1e88da344f9 17 3928305 3928305 G A SNP ZZEF1 ENST00000381638 human ensembl 70_37 -1 known silent c.7000 p.L2334 1.000 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC