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 ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ABCA4 0 genome.wustl.edu 37 1 94502778 94502778 + Frame_Shift_Del DEL G G - TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 1 94502778 94502778 G - DEL ABCA4 ENST00000370225 human ensembl 74_37 -1 known frame_shift_del c.3736 p.L1246fs 1.000 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 tier1 19 0 0.00 22 4 15.38 ADAMTS2 0 genome.wustl.edu 37 5 178541072 178541072 + Silent SNP G G C TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 5 178541072 178541072 G C SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known silent c.3432 p.L1144 0.003 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 tier1 - - 55 0 0.00 70 21 23.08 ADCY3 0 genome.wustl.edu 37 2 25141856 25141856 + Missense_Mutation SNP T T C TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 2 25141856 25141856 T C SNP ADCY3 ENST00000260600 human ensembl 74_37 -1 known missense c.1 p.M1V 0.997 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ENSG00000138031 10 0 0.00 2 2 50.00 ANKRD30A 0 genome.wustl.edu 37 10 37507906 37507906 + Splice_Site SNP A A T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 10 37507906 37507906 A T SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known splice_site c.3100-2 e34-2 0.822 - - - no_errors ANKRD30A HGNC ENSG00000148513 tier1 - - 10 0 0.00 16 11 40.74 ANKRD36C 0 genome.wustl.edu 37 2 96601238 96601238 + Missense_Mutation SNP C C T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 2 96601238 96601238 C T SNP ANKRD36C ENST00000456556 human ensembl 74_37 -1 known missense c.1699 p.A567T 0.002 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36C HGNC ENSG00000174501 57 0 0.00 74 4 5.13 AP1G2 0 genome.wustl.edu 37 14 24031497 24031499 + In_Frame_Del DEL TTG TTG - TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 TTG TTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 14 24031497 24031499 TTG - DEL AP1G2 ENST00000308724 human ensembl 74_37 -1 known in_frame_del c.1628_1626 p.N543in_frame_del 1.000:1.000:0.997 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app - no_errors AP1G2 HGNC ENSG00000213983 tier1 31 0 0.00 32 7 17.95 AP1G2 0 genome.wustl.edu 37 14 24035498 24035498 + Missense_Mutation SNP C C T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 14 24035498 24035498 C T SNP AP1G2 ENST00000308724 human ensembl 74_37 -1 known missense c.460 p.V154M 0.995 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app - no_errors AP1G2 HGNC ENSG00000213983 tier1 - - 44 0 0.00 38 15 28.30 APBB1 0 genome.wustl.edu 37 11 6423342 6423342 + Missense_Mutation SNP C C T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 11 6423342 6423342 C T SNP APBB1 ENST00000389906 human ensembl 74_37 -1 known missense c.1352 p.R451H 0.997 pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_WW_dom,pfam_PTB,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom - no_errors APBB1 HGNC ENSG00000166313 tier1 - - 53 0 0.00 45 22 32.84 ARHGEF12 0 genome.wustl.edu 37 11 120317153 120317153 + Missense_Mutation SNP C C T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 11 120317153 120317153 C T SNP ARHGEF12 ENST00000356641 human ensembl 74_37 +1 known missense c.1330 p.H444Y 1.000 pfam_RGS-like_dom,superfamily_Regulat_G_prot_signal_superfam pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 tier1 - - 11 0 0.00 18 5 21.74 ASNS 0 genome.wustl.edu 37 7 97481732 97481732 + Missense_Mutation SNP T T C TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 7 97481732 97481732 T C SNP ASNS ENST00000175506 human ensembl 74_37 -1 known missense c.1525 p.T509A 1.000 NULL pfam_Asn_synthase,pfam_GATase_dom,tigrfam_Asn_synth_AEB - no_errors ASNS HGNC ENSG00000070669 tier1 - - 53 0 0.00 28 39 57.35 ASTN2 0 genome.wustl.edu 37 9 119188344 119188344 + Missense_Mutation SNP C C A TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 9 119188344 119188344 C A SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.3806 p.R1269L 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 tier1 - - 31 0 0.00 29 5 14.71 B3GNT8 0 genome.wustl.edu 37 19 41931756 41931756 + Missense_Mutation SNP A A G TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 19 41931756 41931756 A G SNP B3GNT8 ENST00000321702 human ensembl 74_37 -1 known missense c.928 p.Y310H 1.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GNT8 HGNC ENSG00000177191 tier1 - - 42 0 0.00 27 22 44.90 BICC1 0 genome.wustl.edu 37 10 60573752 60573752 + Missense_Mutation SNP C C T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 10 60573752 60573752 C T SNP BICC1 ENST00000263103 human ensembl 74_37 +1 known missense c.1417 p.R473C 0.304 NULL NULL - no_errors BICC1 HGNC ENSG00000122870 tier1 - - 81 0 0.00 32 49 60.49 BOD1L1 0 genome.wustl.edu 37 4 13590374 13590374 + Missense_Mutation SNP C C A TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 4 13590374 13590374 C A SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known missense c.8252 p.G2751V 0.000 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 tier1 - - 41 0 0.00 16 26 61.90 C14orf39 0 genome.wustl.edu 37 14 60936309 60936309 + Nonsense_Mutation SNP G G T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 14 60936309 60936309 G T SNP C14orf39 ENST00000321731 human ensembl 74_37 -1 known nonsense c.617 p.S206* 0.676 NULL NULL - no_errors C14orf39 HGNC ENSG00000179008 tier1 - - 66 0 0.00 74 5 6.33 C19orf66 0 genome.wustl.edu 37 19 10200373 10200373 + Splice_Site SNP T T C TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 19 10200373 10200373 T C SNP C19orf66 ENST00000253110 human ensembl 74_37 +1 known splice_site c.234+2 e4+2 0.990 - - - no_errors C19orf66 HGNC ENSG00000130813 tier1 - - 37 0 0.00 19 21 52.50 C6orf25 0 genome.wustl.edu 37 6 31692792 31692792 + Missense_Mutation SNP C C T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 6 31692792 31692792 C T SNP C6orf25 ENST00000375806 human ensembl 74_37 +1 known missense c.667 p.R223C 0.000 NULL NULL - no_errors C6orf25 HGNC ENSG00000204420 tier1 - - 11 0 0.00 7 8 53.33 C8orf86 0 genome.wustl.edu 37 8 38386079 38386079 + Missense_Mutation SNP C C G TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 8 38386079 38386079 C G SNP C8orf86 ENST00000358138 human ensembl 74_37 -1 known missense c.77 p.R26T 0.000 NULL NULL - no_errors C8orf86 HGNC ENSG00000196166 tier1 - - 39 0 0.00 25 28 51.85 CAMK2B 0 genome.wustl.edu 37 7 44258964 44258964 + RNA DEL G G - TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 7 44258964 44258964 G - DEL CAMK2B ENST00000489429 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors CAMK2B HGNC ENSG00000058404 tier1 43 0 0.00 41 3 6.82 CBWD6 0 genome.wustl.edu 37 9 69238176 69238176 + RNA SNP C C T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 9 69238176 69238176 C T SNP CBWD6 ENST00000461834 human ensembl 74_37 -1 known rna NULL NULL 0.014 - - - no_errors CBWD6 HGNC ENSG00000204790 tier1 rs201155560 - 125 0 0.00 55 6 9.84 CCDC175 0 genome.wustl.edu 37 14 60027867 60027867 + Missense_Mutation SNP T T C TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 14 60027867 60027867 T C SNP CCDC175 ENST00000281581 human ensembl 74_37 -1 known missense c.923 p.K308R 0.002 superfamily_Prefoldin superfamily_Prefoldin - no_errors CCDC175 HGNC ENSG00000151838 tier1 - - 46 0 0.00 31 27 46.55 CDK11B 0 genome.wustl.edu 37 1 1575715 1575715 + Missense_Mutation SNP C C T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 1 1575715 1575715 C T SNP CDK11B ENST00000407249 human ensembl 74_37 -1 known missense c.1183 p.D395N 0.994 NULL pfam_Prot_kinase_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_dom - no_errors CDK11B HGNC ENSG00000248333 tier1 - - 97 0 0.00 107 31 22.46 CLEC3A 0 genome.wustl.edu 37 16 78062008 78062008 + Missense_Mutation SNP G G T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 16 78062008 78062008 G T SNP CLEC3A ENST00000299642 human ensembl 74_37 +1 known missense c.147 p.K49N 0.952 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC3A HGNC ENSG00000166509 tier1 - - 30 0 0.00 39 13 25.00 CLTCL1 0 genome.wustl.edu 37 22 19220752 19220752 + Missense_Mutation SNP G G T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 22 19220752 19220752 G T SNP CLTCL1 ENST00000263200 human ensembl 74_37 -1 known missense c.1458 p.S486R 1.000 superfamily_ARM-type_fold,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC ENSG00000070371 tier1 - - 73 0 0.00 60 4 6.25 CNOT1 0 genome.wustl.edu 37 16 58577404 58577404 + Missense_Mutation SNP T T G TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 16 58577404 58577404 T G SNP CNOT1 ENST00000441024 human ensembl 74_37 -1 known missense c.4541 p.N1514T 0.000 NULL superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 tier1 - - 28 0 0.00 29 7 19.44 CSMD3 0 genome.wustl.edu 37 8 113277777 113277777 + Missense_Mutation SNP C C G TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 8 113277777 113277777 C G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.9551 p.R3184T 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 48 0 0.00 42 34 44.74 DCAF7 0 genome.wustl.edu 37 17 61671337 61671337 + RNA SNP C C T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 17 61671337 61671337 C T SNP DCAF7 ENST00000577702 human ensembl 74_37 +1 known rna NULL NULL 0.022 - - - no_errors DCAF7 HGNC ENSG00000136485 tier1 - - 26 0 0.00 12 24 66.67 DET1 0 genome.wustl.edu 37 15 89074851 89074851 + Nonsense_Mutation SNP G G T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 15 89074851 89074851 G T SNP DET1 ENST00000444300 human ensembl 74_37 -1 known nonsense c.119 p.S40* 0.999 NULL pfam_De-etiolated_protein_1_Det1 - no_errors DET1 HGNC ENSG00000140543 48 0 0.00 37 2 5.13 DNAH10 0 genome.wustl.edu 37 12 124364180 124364180 + Splice_Site SNP G G T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 12 124364180 124364180 G T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known splice_site c.8113-1 e49-1 1.000 - - - no_errors DNAH10 HGNC ENSG00000197653 tier1 - - 79 0 0.00 83 5 5.68 DNAH2 0 genome.wustl.edu 37 17 7669692 7669692 + Missense_Mutation SNP C C T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 17 7669692 7669692 C T SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.3568 p.R1190W 0.998 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 tier1 rs138479117 - 21 0 0.00 19 24 55.81 DOCK6 0 genome.wustl.edu 37 19 11354034 11354034 + Missense_Mutation SNP C C T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 19 11354034 11354034 C T SNP DOCK6 ENST00000294618 human ensembl 74_37 -1 known missense c.1286 p.R429H 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC ENSG00000130158 tier1 - - 56 0 0.00 65 17 20.73 DSN1 0 genome.wustl.edu 37 20 35396375 35396375 + Missense_Mutation SNP G G T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 20 35396375 35396375 G T SNP DSN1 ENST00000373745 human ensembl 74_37 -1 known missense c.426 p.F142L 1.000 pfam_Dsn1/Mis13 pfam_Dsn1/Mis13 - no_errors DSN1 HGNC ENSG00000149636 tier1 - - 21 0 0.00 11 23 67.65 DTNA 0 genome.wustl.edu 37 18 32470965 32470965 + RNA SNP G G A TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 18 32470965 32470965 G A SNP DTNA ENST00000592449 human ensembl 74_37 +1 known rna NULL NULL 0.693 - - - no_errors DTNA HGNC ENSG00000134769 tier1 - - 44 0 0.00 27 16 37.21 ENPP1 0 genome.wustl.edu 37 6 132190498 132190498 + Missense_Mutation SNP G G T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 6 132190498 132190498 G T SNP ENPP1 ENST00000360971 human ensembl 74_37 +1 known missense c.1274 p.G425V 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core 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 ENSG00000197594 tier1 - - 32 0 0.00 39 4 9.30 ENSG00000224730 0 genome.wustl.edu 37 19 55147381 55147381 + Silent SNP A A G TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 19 55147381 55147381 A G SNP ENSG00000224730 ENST00000456337 human ensembl 74_37 -1 putative silent c.192 p.L64 0.001 NULL NULL - no_errors AC009892.10 Clone_based_vega_gene ENSG00000224730 35 0 0.00 47 6 11.32 ENSG00000227082 0 genome.wustl.edu 37 1 121138853 121138853 + RNA SNP G G A TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 1 121138853 121138853 G A SNP ENSG00000227082 ENST00000417218 human ensembl 74_37 +1 known rna NULL NULL 0.951 - - - no_errors AL592494.5 Clone_based_vega_gene ENSG00000227082 tier1 rs184767318 - 14 0 0.00 9 4 30.77 ENSG00000228830 0 genome.wustl.edu 37 1 234742800 234742801 + RNA DEL AT AT - TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 1 234742800 234742801 AT - DEL ENSG00000228830 ENST00000436039 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors RP4-781K5.2 Clone_based_vega_gene ENSG00000228830 tier1 14 0 0.00 22 3 12.00 ENSG00000248840 0 genome.wustl.edu 37 4 3314644 3314644 + RNA DEL A A - TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 4 3314644 3314644 A - DEL ENSG00000248840 ENST00000600073 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors RP11-357G3.2 Clone_based_vega_gene ENSG00000248840 tier1 14 0 0.00 12 5 29.41 ENSG00000270726 0 genome.wustl.edu 37 X 155255241 155255243 + RNA DEL GGG GGG - TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 GGG GGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 X 155255241 155255243 GGG - DEL ENSG00000270726 ENST00000285718 human ensembl 74_37 +1 known rna NULL NULL 0.008:0.010:0.011 - - - no_errors AJ271736.10 Clone_based_vega_gene ENSG00000270726 tier1 34 0 0.00 27 7 20.59 EPG5 0 genome.wustl.edu 37 18 43435519 43435519 + RNA SNP C C G TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 18 43435519 43435519 C G SNP EPG5 ENST00000587262 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors EPG5 HGNC ENSG00000152223 tier1 - - 15 0 0.00 7 8 53.33 EXOC8 0 genome.wustl.edu 37 1 231472386 231472386 + Missense_Mutation SNP T T C TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 1 231472386 231472386 T C SNP EXOC8 ENST00000360394 human ensembl 74_37 -1 known missense c.1106 p.D369G 1.000 superfamily_Cullin_repeat-like_dom superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors EXOC8 HGNC ENSG00000116903 tier1 - - 18 0 0.00 38 11 22.45 FAM171B 0 genome.wustl.edu 37 2 187615950 187615950 + Missense_Mutation SNP C C G TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 2 187615950 187615950 C G SNP FAM171B ENST00000304698 human ensembl 74_37 +1 known missense c.814 p.Q272E 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171B HGNC ENSG00000144369 tier1 - - 65 0 0.00 112 18 13.85 FAM184A 0 genome.wustl.edu 37 6 119288068 119288068 + Missense_Mutation SNP C C G TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 6 119288068 119288068 C G SNP FAM184A ENST00000338891 human ensembl 74_37 -1 known missense c.2965 p.D989H 1.000 NULL superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 tier1 - - 45 0 0.00 41 29 41.43 FBXW7 0 genome.wustl.edu 37 4 153247289 153247289 + Missense_Mutation SNP G G C TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 4 153247289 153247289 G C SNP FBXW7 ENST00000281708 human ensembl 74_37 -1 known missense c.1513 p.R505G 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 tier1 - - 45 0 0.00 37 14 27.45 FKBP4 0 genome.wustl.edu 37 12 2909017 2909017 + Missense_Mutation SNP T T C TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 12 2909017 2909017 T C SNP FKBP4 ENST00000001008 human ensembl 74_37 +1 known missense c.673 p.Y225H 1.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP4 HGNC ENSG00000004478 tier1 - - 26 0 0.00 34 6 15.00 FSIP2 0 genome.wustl.edu 37 2 186664649 186664649 + Missense_Mutation SNP T T C TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 2 186664649 186664649 T C SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.10883 p.I3628T 0.997 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 tier1 - - 38 0 0.00 70 12 14.63 GNPTG 0 genome.wustl.edu 37 16 1402138 1402138 + Missense_Mutation SNP G G A TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 16 1402138 1402138 G A SNP GNPTG ENST00000204679 human ensembl 74_37 +1 known missense c.88 p.V30M 1.000 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors GNPTG HGNC ENSG00000090581 tier1 - - 18 0 0.00 15 10 40.00 GPR84 0 genome.wustl.edu 37 12 54757553 54757553 + Missense_Mutation SNP A A C TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 12 54757553 54757553 A C SNP GPR84 ENST00000267015 human ensembl 74_37 -1 known missense c.83 p.V28G 0.003 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR84 HGNC ENSG00000139572 tier1 - - 48 0 0.00 13 34 72.34 GRID2 0 genome.wustl.edu 37 4 93225753 93225753 + RNA DEL A A - TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 4 93225753 93225753 A - DEL GRID2 ENST00000505687 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GRID2 HGNC ENSG00000152208 tier1 40 0 0.00 50 5 9.09 GRXCR1 0 genome.wustl.edu 37 4 43032468 43032468 + Nonsense_Mutation SNP C C T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 4 43032468 43032468 C T SNP GRXCR1 ENST00000399770 human ensembl 74_37 +1 known nonsense c.784 p.R262* 1.000 superfamily_HSP_DnaJ_Cys-rich_dom pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom - no_errors GRXCR1 HGNC ENSG00000215203 tier1 - - 51 0 0.00 147 19 11.45 HDAC5 0 genome.wustl.edu 37 17 42162043 42162043 + Silent SNP G G T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 17 42162043 42162043 G T SNP HDAC5 ENST00000225983 human ensembl 74_37 -1 known silent c.2188 p.R730 1.000 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC5 HGNC ENSG00000108840 29 0 0.00 38 3 7.32 HECW2 0 genome.wustl.edu 37 2 197184302 197184302 + Nonsense_Mutation SNP C C A TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 2 197184302 197184302 C A SNP HECW2 ENST00000260983 human ensembl 74_37 -1 known nonsense c.1312 p.E438* 0.957 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW2 HGNC ENSG00000138411 19 0 0.00 40 4 9.09 HLA-J 0 genome.wustl.edu 37 6 29977358 29977358 + RNA SNP T T C TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 6 29977358 29977358 T C SNP HLA-J ENST00000462773 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HLA-J HGNC ENSG00000204622 29 0 0.00 58 4 6.45 HLA-J 0 genome.wustl.edu 37 6 29977359 29977359 + RNA SNP G G A TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 6 29977359 29977359 G A SNP HLA-J ENST00000462773 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HLA-J HGNC ENSG00000204622 29 0 0.00 58 4 6.45 HYPK 0 genome.wustl.edu 37 15 44092665 44092665 + RNA SNP G G A TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 15 44092665 44092665 G A SNP HYPK ENST00000498605 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HYPK HGNC ENSG00000242028 tier1 - - 23 0 0.00 28 7 20.00 IGF2 0 genome.wustl.edu 37 11 2161524 2161524 + Missense_Mutation SNP C C G TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 11 2161524 2161524 C G SNP IGF2 ENST00000434045 human ensembl 74_37 -1 known missense c.3 p.M1I 0.998 NULL pfam_IGF2_C,pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_IGF2,prints_Insulin_family,prints_Insulin-like_growth_factor - no_errors IGF2 HGNC ENSG00000167244 tier1 - - 76 0 0.00 29 29 50.00 INTS8 0 genome.wustl.edu 37 8 95841223 95841223 + Frame_Shift_Del DEL A A - TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 8 95841223 95841223 A - DEL INTS8 ENST00000523731 human ensembl 74_37 +1 known frame_shift_del c.539 p.E182fs 1.000 NULL NULL - no_errors INTS8 HGNC ENSG00000164941 tier1 34 0 0.00 30 2 6.25 KCNH4 0 genome.wustl.edu 37 17 40321669 40321669 + Silent SNP C C G TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 17 40321669 40321669 C G SNP KCNH4 ENST00000264661 human ensembl 74_37 -1 known silent c.1416 p.G472 0.879 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH4 HGNC ENSG00000089558 tier1 - - 64 0 0.00 27 54 66.67 KIAA1257 0 genome.wustl.edu 37 3 128707650 128707650 + Missense_Mutation SNP G G A TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 3 128707650 128707650 G A SNP KIAA1257 ENST00000265068 human ensembl 74_37 -1 known missense c.374 p.P125L 0.992 NULL NULL - no_errors KIAA1257 HGNC ENSG00000114656 tier1 - - 60 0 0.00 71 15 17.44 KIF5C 0 genome.wustl.edu 37 2 149633197 149633197 + Missense_Mutation SNP C C T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 2 149633197 149633197 C T SNP KIF5C ENST00000435030 human ensembl 74_37 +1 known missense c.11 p.P4L 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF5C HGNC ENSG00000168280 tier1 - - 19 0 0.00 25 67 72.83 KIF5C 0 genome.wustl.edu 37 2 149840246 149840246 + Missense_Mutation SNP T T A TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 2 149840246 149840246 T A SNP KIF5C ENST00000435030 human ensembl 74_37 +1 known missense c.1682 p.I561K 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF5C HGNC ENSG00000168280 tier1 - - 71 0 0.00 44 184 80.70 LARS2 0 genome.wustl.edu 37 3 45500280 45500280 + Nonsense_Mutation SNP G G T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 3 45500280 45500280 G T SNP LARS2 ENST00000265537 human ensembl 74_37 +1 known nonsense c.652 p.E218* 1.000 pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,prints_Leu-tRNA-ligase_bac/mito,tigrfam_Leu-tRNA-ligase_bac/mito pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Leu-tRNA-ligase_bac/mito,tigrfam_Leu-tRNA-ligase_bac/mito - no_errors LARS2 HGNC ENSG00000011376 tier1 - - 28 0 0.00 32 4 11.11 LCN6 0 genome.wustl.edu 37 9 139642865 139642865 + Missense_Mutation SNP C C G TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 9 139642865 139642865 C G SNP LCN6 ENST00000341206 human ensembl 74_37 -1 known missense c.71 p.G24A 0.972 superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like - no_errors LCN6 HGNC ENSG00000267206 tier1 - - 65 0 0.00 26 69 72.63 LDHAL6B 0 genome.wustl.edu 37 15 59499600 59499600 + Missense_Mutation SNP C C T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 15 59499600 59499600 C T SNP LDHAL6B ENST00000307144 human ensembl 74_37 +1 known missense c.461 p.T154M 0.996 pfam_Lactate/malate_DH_N,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHAL6B HGNC ENSG00000171989 tier1 - - 52 0 0.00 69 15 17.86 LOC100507054 0 genome.wustl.edu 37 4 1576058 1576058 + RNA SNP C C G TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 4 1576058 1576058 C G SNP LOC100507054 ENST00000466692 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors RP11-1398P2.1 Clone_based_vega_gene ENSG00000244459 tier1 - - 30 0 0.00 16 29 64.44 LOC101927209 0 genome.wustl.edu 37 1 142621506 142621506 + RNA SNP T T C TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 1 142621506 142621506 T C SNP LOC101927209 ENST00000412092 human ensembl 74_37 +1 known rna NULL NULL 0.042 - - - no_errors RP11-417J8.3 Clone_based_vega_gene ENSG00000230880 tier1 rs2484386 - 13 0 0.00 18 6 25.00 LOC101927345 0 genome.wustl.edu 37 1 143392625 143392625 + RNA SNP G G C TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 1 143392625 143392625 G C SNP LOC101927345 ENST00000415543 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 tier1 - - 148 0 0.00 103 42 28.97 LOC101929676 0 genome.wustl.edu 37 4 119554790 119554790 + RNA SNP T T C TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 4 119554790 119554790 T C SNP LOC101929676 ENST00000567913 human ensembl 74_37 +1 known rna NULL NULL 0.759 - - - no_errors RP11-384K6.6 Clone_based_vega_gene ENSG00000260404 41 0 0.00 57 3 5.00 LOC645752 0 genome.wustl.edu 37 15 78217292 78217292 + RNA SNP G G A TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 15 78217292 78217292 G A SNP LOC645752 ENST00000567226 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-114H24.2 Clone_based_vega_gene ENSG00000260776 tier1 - - 95 0 0.00 68 53 43.80 LRIG2 0 genome.wustl.edu 37 1 113655143 113655143 + Missense_Mutation SNP G G T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 1 113655143 113655143 G T SNP LRIG2 ENST00000361127 human ensembl 74_37 +1 known missense c.1841 p.R614L 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG2 HGNC ENSG00000198799 30 0 0.00 37 2 5.13 LRP5 0 genome.wustl.edu 37 11 68174018 68174018 + Frame_Shift_Del DEL G G - TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 11 68174018 68174018 G - DEL LRP5 ENST00000294304 human ensembl 74_37 +1 known frame_shift_del c.1828 p.C612fs 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,smart_EG-like_dom pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 tier1 64 0 0.00 58 12 17.14 LTBP1 0 genome.wustl.edu 37 2 33335690 33335690 + Missense_Mutation SNP G G T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 2 33335690 33335690 G T SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known missense c.905 p.G302V 1.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 76 0 0.00 61 4 6.15 LTN1 0 genome.wustl.edu 37 21 30339206 30339206 + Frame_Shift_Del DEL T T - TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 21 30339206 30339206 T 0 DEL LTN1 ENST00000389194 human ensembl 74_37 -1 known frame_shift_del c.1745 p.N582fs 0.000 superfamily_ARM-type_fold pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 54 0 0.00 98 6 5.77 MAP1B 0 genome.wustl.edu 37 5 71495635 71495635 + Silent SNP C C T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 5 71495635 71495635 C T SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known silent c.6453 p.S2151 0.689 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 tier1 - - 40 0 0.00 12 11 47.83 MAP2 0 genome.wustl.edu 37 2 210559188 210559188 + Missense_Mutation SNP A A T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 2 210559188 210559188 A T SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.2294 p.E765V 0.978 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 tier1 - - 11 0 0.00 8 9 52.94 MARCH1 0 genome.wustl.edu 37 4 164534146 164534146 + Missense_Mutation SNP C C T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 4 164534146 164534146 C T SNP MARCH1 ENST00000514618 human ensembl 74_37 -1 novel missense c.287 p.C96Y 0.989 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors MARCH1 HGNC ENSG00000145416 tier1 - - 10 0 0.00 8 4 33.33 MBNL1 0 genome.wustl.edu 37 3 152175980 152175980 + Missense_Mutation SNP A A G TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 3 152175980 152175980 A G SNP MBNL1 ENST00000324196 human ensembl 74_37 +1 known missense c.964 p.M322V 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors MBNL1 HGNC ENSG00000152601 tier1 - - 49 0 0.00 47 32 40.51 MDN1 0 genome.wustl.edu 37 6 90385858 90385858 + Missense_Mutation SNP T T G TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 6 90385858 90385858 T G SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.12608 p.H4203P 0.996 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 tier1 - - 28 0 0.00 30 11 26.83 MIR3613 0 genome.wustl.edu 37 13 50570573 50570575 + RNA DEL CTT CTT - TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 13 50570573 50570575 CTT - DEL MIR3613 ENST00000579844 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000:1.000 - - - no_errors MIR3613 HGNC ENSG00000264864 tier1 44 0 0.00 17 5 22.73 MIRLET7F1 0 genome.wustl.edu 37 9 96938644 96938644 + RNA SNP A A T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 9 96938644 96938644 A T SNP MIRLET7F1 ENST00000362202 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIRLET7F1 HGNC ENSG00000199072 tier1 - - 36 0 0.00 14 42 75.00 MRC1 0 genome.wustl.edu 37 10 18155626 18155626 + Missense_Mutation SNP C C T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 10 18155626 18155626 C T SNP MRC1 ENST00000239761 human ensembl 74_37 +1 known missense c.1919 p.T640M 0.987 NULL pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC1 HGNC ENSG00000120586 tier1 - - 19 0 0.00 11 5 31.25 MRPL24 0 genome.wustl.edu 37 1 156707997 156707997 + RNA SNP C C G TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 1 156707997 156707997 C G SNP MRPL24 ENST00000478899 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MRPL24 HGNC ENSG00000143314 tier1 - - 51 0 0.00 69 5 6.76 MS4A8 0 genome.wustl.edu 37 11 60470906 60470906 + Missense_Mutation SNP C C T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 11 60470906 60470906 C T SNP MS4A8 ENST00000300226 human ensembl 74_37 +1 known missense c.275 p.T92M 0.004 pfam_CD20-like pfam_CD20-like - no_errors MS4A8 HGNC ENSG00000166959 tier1 - - 83 0 0.00 99 15 13.16 MSLNL 0 genome.wustl.edu 37 16 820093 820093 + Silent SNP G G A TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 16 820093 820093 G A SNP MSLNL ENST00000293892 human ensembl 74_37 -1 known silent c.2892 p.H964 0.000 NULL pfam_Mesothelin - no_errors MSLNL HGNC ENSG00000162006 tier1 - - 21 0 0.00 15 13 46.43 MT-CO1 0 genome.wustl.edu 37 MT 6889 6889 + Missense_Mutation SNP G G A TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 MT 6889 6889 G A SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known missense c.986 p.G329E NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 tier1 - - 46 0 0.00 8 8 47.06 MT-ND5 0 genome.wustl.edu 37 MT 13289 13289 + Missense_Mutation SNP G G A TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 MT 13289 13289 G A SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.953 p.G318D NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 rs28683136 - 56 0 0.00 11 38 77.55 MT-ND5 0 genome.wustl.edu 37 MT 14120 14120 + Missense_Mutation SNP T T C TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 MT 14120 14120 T C SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.1784 p.L595P NULL pfam_NADH_DH_su5_C pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 74 0 0.00 40 4 9.09 MUC4 0 genome.wustl.edu 37 3 195509034 195509034 + Silent SNP G G C TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 3 195509034 195509034 G C SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known silent c.9417 p.V3139 0.007 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 - - 173 0 0.00 160 76 32.20 MYO15B 0 genome.wustl.edu 37 17 73621887 73621887 + RNA SNP C C A TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 17 73621887 73621887 C A SNP MYO15B ENST00000578382 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MYO15B HGNC ENSG00000266714 tier1 - - 37 0 0.00 42 8 16.00 MYO18B 0 genome.wustl.edu 37 22 26164786 26164786 + Silent SNP C C T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 22 26164786 26164786 C T SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known silent c.903 p.D301 0.000 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 tier1 - - 51 0 0.00 36 10 21.74 MYOF 0 genome.wustl.edu 37 10 95111302 95111302 + Missense_Mutation SNP G G T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 10 95111302 95111302 G T SNP MYOF ENST00000359263 human ensembl 74_37 -1 known missense c.3690 p.S1230R 0.942 superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors MYOF HGNC ENSG00000138119 25 0 0.00 33 3 8.33 NDRG2 0 genome.wustl.edu 37 14 21487296 21487296 + Missense_Mutation SNP C C T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 14 21487296 21487296 C T SNP NDRG2 ENST00000298687 human ensembl 74_37 -1 known missense c.740 p.R247H 1.000 pfam_Ndr pfam_Ndr - no_errors NDRG2 HGNC ENSG00000165795 tier1 - - 42 0 0.00 44 10 18.52 NDST2 0 genome.wustl.edu 37 10 75563440 75563440 + Silent SNP G G T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 10 75563440 75563440 G T SNP NDST2 ENST00000309979 human ensembl 74_37 -1 known silent c.2034 p.T678 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST2 HGNC ENSG00000166507 tier1 - - 70 0 0.00 54 4 6.90 NEB 0 genome.wustl.edu 37 2 152525591 152525591 + Missense_Mutation SNP C C T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 2 152525591 152525591 C T SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.4561 p.E1521K 0.995 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,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 ENSG00000183091 tier1 - - 47 0 0.00 51 17 24.64 NWD1 0 genome.wustl.edu 37 19 16860996 16860996 + Silent SNP C C T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 19 16860996 16860996 C T SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known silent c.1543 p.L515 0.976 superfamily_P-loop_NTPase pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 tier1 - - 38 0 0.00 22 18 45.00 OR52K1 0 genome.wustl.edu 37 11 4510932 4510932 + Missense_Mutation SNP C C T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 11 4510932 4510932 C T SNP OR52K1 ENST00000307632 human ensembl 74_37 +1 known missense c.802 p.R268C 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52K1 HGNC ENSG00000196778 tier1 - - 58 0 0.00 51 28 35.44 PAPD5 0 genome.wustl.edu 37 16 50263480 50263480 + RNA SNP G G T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 16 50263480 50263480 G T SNP PAPD5 ENST00000573002 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PAPD5 HGNC ENSG00000121274 tier1 - - 31 0 0.00 36 4 10.00 PAPPA2 0 genome.wustl.edu 37 1 176679141 176679141 + Missense_Mutation SNP G G T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 1 176679141 176679141 G T SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.3480 p.M1160I 0.017 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 tier1 - - 32 0 0.00 47 4 7.84 PAX5 0 genome.wustl.edu 37 9 37006509 37006509 + Missense_Mutation SNP G G T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 9 37006509 37006509 G T SNP PAX5 ENST00000358127 human ensembl 74_37 -1 known missense c.436 p.P146T 1.000 NULL pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX5 HGNC ENSG00000196092 52 0 0.00 62 4 6.06 PCDH7 0 genome.wustl.edu 37 4 30724999 30725000 + In_Frame_Ins INS - - GCA TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 4 30724999 30725000 - GCA INS PCDH7 ENST00000543491 human ensembl 74_37 +1 known in_frame_ins c.1955_1956 p.654in_frame_insQ 1.000:0.999 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 tier1 37 0 0.00 30 17 36.17 PCDHA10 0 genome.wustl.edu 37 5 140236873 140236873 + Missense_Mutation SNP C C T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 5 140236873 140236873 C T SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known missense c.1240 p.R414C 1.000 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 PCDHA10 HGNC ENSG00000250120 tier1 - - 102 0 0.00 58 95 62.09 PCNXL2 0 genome.wustl.edu 37 1 233394198 233394198 + Silent SNP G G A TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 1 233394198 233394198 G A SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known silent c.1410 p.Y470 0.026 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 tier1 - - 23 0 0.00 23 25 52.08 PDPR 0 genome.wustl.edu 37 16 70190707 70190707 + Silent SNP C C G TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 16 70190707 70190707 C G SNP PDPR ENST00000288050 human ensembl 74_37 +1 known silent c.2565 p.L855 1.000 NULL pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom - no_errors PDPR HGNC ENSG00000090857 tier1 - - 109 0 0.00 125 16 11.35 PHF8 0 genome.wustl.edu 37 X 53970565 53970565 + Splice_Site SNP A A C TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 X 53970565 53970565 A C SNP PHF8 ENST00000357988 human ensembl 74_37 -1 known splice_site c.2757+2 e20+2 1.000 - - - no_errors PHF8 HGNC ENSG00000172943 tier1 - - 38 0 0.00 18 39 68.42 PIGS 0 genome.wustl.edu 37 17 26883215 26883215 + Nonsense_Mutation SNP G G A TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 17 26883215 26883215 G A SNP PIGS ENST00000308360 human ensembl 74_37 -1 known nonsense c.1150 p.R384* 0.605 pfam_PtdIno-glycan_biosynth_class_S pfam_PtdIno-glycan_biosynth_class_S - no_errors PIGS HGNC ENSG00000087111 tier1 - - 82 0 0.00 78 11 12.36 PLA2G12A 0 genome.wustl.edu 37 4 110650791 110650791 + Missense_Mutation SNP C C T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 4 110650791 110650791 C T SNP PLA2G12A ENST00000243501 human ensembl 74_37 -1 known missense c.175 p.E59K 1.000 pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2_dom pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2_dom - no_errors PLA2G12A HGNC ENSG00000123739 tier1 - - 38 0 0.00 41 12 22.64 POLH 0 genome.wustl.edu 37 6 43565542 43565542 + Missense_Mutation SNP G G A TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 6 43565542 43565542 G A SNP POLH ENST00000372236 human ensembl 74_37 +1 known missense c.600 p.M200I 1.000 pfam_DNA_repair_prot_UmuC-like,pirsf_DNA_pol_eta,pfscan_DNA_repair_prot_UmuC-like_N pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger,pirsf_DNA_pol_eta,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLH HGNC ENSG00000170734 tier1 - - 50 0 0.00 63 13 17.11 POM121L1P 0 genome.wustl.edu 37 22 22981704 22981706 + RNA DEL GGT GGT - TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 GGT GGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 22 22981704 22981706 GGT 0 DEL POM121L1P ENST00000402027 human ensembl 74_37 -1 known rna NULL NULL 0.159:0.164:0.169 - - - no_errors POM121L1P HGNC ENSG00000183169 118 0 0.00 111 8 6.72 PPP1R12B 0 genome.wustl.edu 37 1 202414308 202414308 + RNA SNP G G T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 1 202414308 202414308 G T SNP PPP1R12B ENST00000434615 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PPP1R12B HGNC ENSG00000077157 tier1 - - 43 0 0.00 89 5 5.32 PREX2 0 genome.wustl.edu 37 8 68972969 68972969 + Missense_Mutation SNP G G T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 8 68972969 68972969 G T SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.1294 p.V432L 1.000 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 19 0 0.00 33 2 5.71 PRKD2 0 genome.wustl.edu 37 19 47201016 47201016 + Missense_Mutation SNP C C A TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 19 47201016 47201016 C A SNP PRKD2 ENST00000291281 human ensembl 74_37 -1 known missense c.1213 p.V405F 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD2 HGNC ENSG00000105287 tier1 - - 23 0 0.00 34 10 22.73 PRRG1 0 genome.wustl.edu 37 X 37312610 37312611 + Frame_Shift_Ins INS - - C TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 X 37312610 37312611 - C INS PRRG1 ENST00000378628 human ensembl 74_37 +1 known frame_shift_ins c.393_394 p.P134fs 0.008:0.109 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG1 HGNC ENSG00000130962 tier1 36 0 0.00 45 11 19.64 PSG4 0 genome.wustl.edu 37 19 43699171 43699171 + Missense_Mutation SNP C C T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 19 43699171 43699171 C T SNP PSG4 ENST00000405312 human ensembl 74_37 -1 known missense c.964 p.D322N 0.745 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG4 HGNC ENSG00000243137 tier1 - - 181 0 0.00 143 106 42.57 RANBP3 0 genome.wustl.edu 37 19 5918644 5918644 + Silent SNP G G T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 19 5918644 5918644 G T SNP RANBP3 ENST00000340578 human ensembl 74_37 -1 known silent c.1336 p.R446 1.000 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3 HGNC ENSG00000031823 18 0 0.00 35 4 10.26 RASA3 0 genome.wustl.edu 37 13 114793367 114793367 + Missense_Mutation SNP C C A TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 13 114793367 114793367 C A SNP RASA3 ENST00000542651 human ensembl 74_37 -1 known missense c.391 p.A131S 0.997 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RASA3 HGNC ENSG00000185989 tier1 - - 44 0 0.00 27 21 43.75 RGS6 0 genome.wustl.edu 37 14 72939647 72939647 + Missense_Mutation SNP G G A TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 14 72939647 72939647 G A SNP RGS6 ENST00000553525 human ensembl 74_37 +1 known missense c.604 p.V202I 1.000 NULL pfam_RGS_dom,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_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS6 HGNC ENSG00000182732 tier1 - - 39 0 0.00 54 6 10.00 RP1 0 genome.wustl.edu 37 8 55539064 55539064 + Silent SNP G G T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 8 55539064 55539064 G T SNP RP1 ENST00000220676 human ensembl 74_37 +1 known silent c.2622 p.G874 0.153 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 tier1 - - 30 0 0.00 64 11 14.67 SEC23A 0 genome.wustl.edu 37 14 39532558 39532558 + Silent SNP G G A TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 14 39532558 39532558 G A SNP SEC23A ENST00000307712 human ensembl 74_37 -1 known silent c.1368 p.T456 0.926 pfam_Sec23_24_beta_S pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23A HGNC ENSG00000100934 tier1 - - 57 0 0.00 42 14 25.00 SIGLEC9 0 genome.wustl.edu 37 19 51633206 51633206 + Missense_Mutation SNP C C T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 19 51633206 51633206 C T SNP SIGLEC9 ENST00000250360 human ensembl 74_37 +1 known missense c.1262 p.S421F 0.000 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors SIGLEC9 HGNC ENSG00000129450 tier1 - - 21 0 0.00 33 7 17.50 SLC13A4 0 genome.wustl.edu 37 7 135406264 135406264 + Missense_Mutation SNP G G A TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 7 135406264 135406264 G A SNP SLC13A4 ENST00000354042 human ensembl 74_37 -1 known missense c.107 p.S36L 0.057 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM - no_errors SLC13A4 HGNC ENSG00000164707 tier1 - - 24 0 0.00 20 12 37.50 SLC6A3 0 genome.wustl.edu 37 5 1403165 1403165 + Missense_Mutation SNP G G T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 5 1403165 1403165 G T SNP SLC6A3 ENST00000270349 human ensembl 74_37 -1 known missense c.1639 p.H547N 0.931 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport_dopamine pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine - no_errors SLC6A3 HGNC ENSG00000142319 tier1 - - 27 0 0.00 35 11 23.91 SLC9A5 0 genome.wustl.edu 37 16 67289823 67289823 + Missense_Mutation SNP G G T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 16 67289823 67289823 G T SNP SLC9A5 ENST00000299798 human ensembl 74_37 +1 known missense c.901 p.A301S 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A5 HGNC ENSG00000135740 24 0 0.00 20 2 9.09 SLC9A7 0 genome.wustl.edu 37 X 46502752 46502752 + Missense_Mutation SNP G G T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 X 46502752 46502752 G T SNP SLC9A7 ENST00000328306 human ensembl 74_37 -1 known missense c.1532 p.T511K 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A7 HGNC ENSG00000065923 25 0 0.00 34 4 10.53 SLFNL1 0 genome.wustl.edu 37 1 41483479 41483479 + Missense_Mutation SNP A A G TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 1 41483479 41483479 A G SNP SLFNL1 ENST00000302946 human ensembl 74_37 -1 known missense c.785 p.V262A 0.914 pfam_ATPase_AAA-4 pfam_ATPase_AAA-4 - no_errors SLFNL1 HGNC ENSG00000171790 tier1 - - 33 0 0.00 27 19 41.30 SPDYE4 0 genome.wustl.edu 37 17 8658868 8658868 + Missense_Mutation SNP T T C TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 17 8658868 8658868 T C SNP SPDYE4 ENST00000328794 human ensembl 74_37 -1 known missense c.455 p.Q152R 0.024 pfam_Cell_cycle_regulatory_Spy1 pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYE4 HGNC ENSG00000183318 tier1 - - 189 0 0.00 86 158 64.49 SPTA1 0 genome.wustl.edu 37 1 158582626 158582626 + Missense_Mutation SNP G G T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 1 158582626 158582626 G T SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.7115 p.T2372N 1.000 pfam_EF-hand_Ca_insen pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 36 0 0.00 74 4 5.13 SPTAN1 0 genome.wustl.edu 37 9 131370264 131370264 + Frame_Shift_Del DEL G G - TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 9 131370264 131370264 G - DEL SPTAN1 ENST00000358161 human ensembl 74_37 +1 known frame_shift_del c.4280 p.R1427fs 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 tier1 64 0 0.00 65 9 12.16 ST18 0 genome.wustl.edu 37 8 53126769 53126769 + Missense_Mutation SNP T T A TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 8 53126769 53126769 T A SNP ST18 ENST00000276480 human ensembl 74_37 -1 known missense c.49 p.T17S 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 tier1 - - 69 0 0.00 68 29 29.90 TAF1D 0 genome.wustl.edu 37 11 93464336 93464336 + RNA SNP T T C TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 11 93464336 93464336 T C SNP TAF1D ENST00000530089 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TAF1D HGNC ENSG00000166012 tier1 - - 23 0 0.00 29 12 29.27 TAF1L 0 genome.wustl.edu 37 9 32630449 32630449 + Missense_Mutation SNP C C T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 9 32630449 32630449 C T SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.5129 p.R1710K 0.996 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 tier1 - - 122 0 0.00 57 106 65.03 TEC 0 genome.wustl.edu 37 4 48141032 48141032 + Silent SNP G G A TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 4 48141032 48141032 G A SNP TEC ENST00000381501 human ensembl 74_37 -1 known silent c.1543 p.L515 0.994 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif - no_errors TEC HGNC ENSG00000135605 15 0 0.00 10 4 28.57 TECTA 0 genome.wustl.edu 37 11 121000704 121000704 + Missense_Mutation SNP C C T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 11 121000704 121000704 C T SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.2725 p.R909C 1.000 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 31 0 0.00 27 4 12.90 TLR10 0 genome.wustl.edu 37 4 38776722 38776722 + Missense_Mutation SNP G G C TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 4 38776722 38776722 G C SNP TLR10 ENST00000308973 human ensembl 74_37 -1 known missense c.490 p.H164D 0.168 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,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 TLR10 HGNC ENSG00000174123 tier1 - - 37 0 0.00 79 7 8.14 TMEM184A 0 genome.wustl.edu 37 7 1590564 1590564 + Missense_Mutation SNP G G T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 7 1590564 1590564 G T SNP TMEM184A ENST00000297477 human ensembl 74_37 -1 known missense c.274 p.R92S 1.000 pfam_Ost-alpha pfam_Ost-alpha - no_errors TMEM184A HGNC ENSG00000164855 56 0 0.00 50 3 5.66 TNR 0 genome.wustl.edu 37 1 175293656 175293656 + Splice_Site SNP C C A TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 1 175293656 175293656 C A SNP TNR ENST00000263525 human ensembl 74_37 -1 known splice_site c.3794-1 e20-1 1.000 - - - no_errors TNR HGNC ENSG00000116147 tier1 - - 37 0 0.00 44 12 21.43 TP53 0 genome.wustl.edu 37 17 7578547 7578547 + Frame_Shift_Del DEL G G - TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 17 7578547 7578547 G - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.383 p.P128fs 0.106 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 27 0 0.00 21 18 46.15 TRPC1 0 genome.wustl.edu 37 3 142462342 142462342 + Silent SNP T T C TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 3 142462342 142462342 T C SNP TRPC1 ENST00000476941 human ensembl 74_37 +1 known silent c.343 p.L115 1.000 superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC1 HGNC ENSG00000144935 tier1 - - 45 0 0.00 43 13 23.21 TSSC2 0 genome.wustl.edu 37 11 3424158 3424158 + RNA SNP C C T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 11 3424158 3424158 C T SNP TSSC2 ENST00000529482 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TSSC2 HGNC ENSG00000223756 tier1 - - 121 0 0.00 81 5 5.81 TTC21B 0 genome.wustl.edu 37 2 166756357 166756357 + Nonsense_Mutation SNP G G A TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 2 166756357 166756357 G A SNP TTC21B ENST00000243344 human ensembl 74_37 -1 known nonsense c.2791 p.Q931* 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21B HGNC ENSG00000123607 tier1 - - 46 0 0.00 40 12 23.08 UBXN4 0 genome.wustl.edu 37 2 136537813 136537813 + Missense_Mutation SNP G G C TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 2 136537813 136537813 G C SNP UBXN4 ENST00000272638 human ensembl 74_37 +1 known missense c.1246 p.G416R 1.000 NULL pfam_UBX,superfamily_Thioredoxin-like_fold,smart_UBX,pfscan_UBX - no_errors UBXN4 HGNC ENSG00000144224 tier1 - - 72 0 0.00 67 24 26.37 WIZ 0 genome.wustl.edu 37 19 15538262 15538262 + Silent SNP G G A TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 19 15538262 15538262 G A SNP WIZ ENST00000389282 human ensembl 74_37 -1 known silent c.3183 p.H1061 0.130 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 tier1 - - 99 0 0.00 69 5 6.76 XIRP1 0 genome.wustl.edu 37 3 39227399 39227399 + Missense_Mutation SNP G G T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 3 39227399 39227399 G T SNP XIRP1 ENST00000340369 human ensembl 74_37 -1 known missense c.3538 p.P1180T 0.175 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 31 0 0.00 26 4 13.33 ZDHHC23 0 genome.wustl.edu 37 3 113676531 113676531 + RNA SNP T T A TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 3 113676531 113676531 T A SNP ZDHHC23 ENST00000488129 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors ZDHHC23 HGNC ENSG00000184307 tier1 - - 65 0 0.00 76 43 36.13 ZER1 0 genome.wustl.edu 37 9 131517732 131517732 + Missense_Mutation SNP G G T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 9 131517732 131517732 G T SNP ZER1 ENST00000291900 human ensembl 74_37 -1 known missense c.113 p.P38Q 1.000 NULL superfamily_ARM-type_fold,smart_Armadillo - no_errors ZER1 HGNC ENSG00000160445 31 0 0.00 49 3 5.77 ZMYM6 0 genome.wustl.edu 37 1 35480667 35480667 + Silent SNP C C T TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 1 35480667 35480667 C T SNP ZMYM6 ENST00000357182 human ensembl 74_37 -1 known silent c.525 p.E175 0.998 smart_TRASH_dom pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH_dom - no_errors ZMYM6 HGNC ENSG00000163867 tier1 - - 48 0 0.00 46 17 26.98 ZNF318 0 genome.wustl.edu 37 6 43305847 43305847 + Missense_Mutation SNP C C G TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 6 43305847 43305847 C G SNP ZNF318 ENST00000361428 human ensembl 74_37 -1 known missense c.5889 p.K1963N 0.000 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 tier1 - - 19 0 0.00 29 14 32.56 ZNF667 0 genome.wustl.edu 37 19 56972059 56972059 + Frame_Shift_Del DEL A A - TCGA-IG-A3YB-01A-11D-A247-09 TCGA-IG-A3YB-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9fe8f50-5356-4f40-a351-34ea4f99e438 3c15c909-6c3b-45cb-96e7-4aaadf93e541 19 56972059 56972059 A - DEL ZNF667 ENST00000342634 human ensembl 74_37 -1 known frame_shift_del c.438 p.G147fs 0.001 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 ZNF667 HGNC ENSG00000198046 tier1 22 0 0.00 24 9 27.27