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 ABCB1 5243 genome.wustl.edu 37 7 87133510 87133510 + RNA SNP A A T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 87133510 87133510 A T SNP ABCB1 ENST00000488737 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors ABCB1 HGNC ABCB1 5243 genome.wustl.edu 37 7 87133510 87133510 + RNA SNP A A T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 87133510 87133510 A T SNP ABCB1 ENST00000488737 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors ABCB1 HGNC ABI2 10152 genome.wustl.edu 37 2 204292029 204292029 + Missense_Mutation SNP T T G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 2 204292029 204292029 T G SNP ABI2 ENST00000295851 human ensembl 70_37 +1 known missense c.1496 p.L499R 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,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 ABI2 HGNC ABLIM2 84448 genome.wustl.edu 37 4 8108346 8108346 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 8108346 8108346 G T SNP ABLIM2 ENST00000447017 human ensembl 70_37 -1 known missense c.29 p.A10D 0.000 NULL pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM2 HGNC AGAP1-IT1 100506749 genome.wustl.edu 37 2 236416021 236416021 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 2 236416021 236416021 C A SNP AGAP1-IT1 ENST00000440498 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AGAP1-IT1 HGNC AGPAT2 10555 genome.wustl.edu 37 9 139571111 139571111 + Nonsense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 9 139571111 139571111 C A SNP AGPAT2 ENST00000371696 human ensembl 70_37 -1 known nonsense c.514 p.E172* 1.000 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,tigrfam_AGP_acyltrans pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,tigrfam_AGP_acyltrans - no_errors AGPAT2 HGNC AIRE 326 genome.wustl.edu 37 21 45714338 45714338 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 21 45714338 45714338 G T SNP AIRE ENST00000291582 human ensembl 70_37 +1 known missense c.1455 p.E485D 0.034 NULL pfam_Sp100,pfam_Znf_PHD-finger,pfam_SAND_dom,superfamily_Znf_FYVE_PHD,superfamily_SAND_dom-like,smart_SAND_dom,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_SAND_dom,prints_AIRE - no_errors AIRE HGNC AKAP2 11217 genome.wustl.edu 37 9 112811046 112811046 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 9 112811046 112811046 C T SNP AKAP2 ENST00000374525 human ensembl 70_37 +1 known missense c.67 p.P23S 0.016 NULL pfam_RII_binding_1 - no_errors AKAP2 HGNC ARF4 378 genome.wustl.edu 37 3 57582435 57582435 + RNA SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 57582435 57582435 G C SNP ARF4 ENST00000495354 human ensembl 70_37 -1 putative rna NULL NULL 0.001 - - - no_errors ARF4 HGNC ATP10B 23120 genome.wustl.edu 37 5 160071195 160071195 + Missense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 5 160071195 160071195 C A SNP ATP10B ENST00000327245 human ensembl 70_37 -1 known missense c.818 p.G273V 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl 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 ATP10B 23120 genome.wustl.edu 37 5 160071195 160071195 + Missense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 5 160071195 160071195 C A SNP ATP10B ENST00000327245 human ensembl 70_37 -1 known missense c.818 p.G273V 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl 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 ATP6V1F 9296 genome.wustl.edu 37 7 128505196 128505196 + Missense_Mutation SNP A A T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 128505196 128505196 A T SNP ATP6V1F ENST00000492758 human ensembl 70_37 +1 novel missense c.181 p.S61C 0.001 pirsf_ATPase_V1-cplx_fsu_euk pfam_ATPase_V1/A1-cplx_fsu,pirsf_ATPase_V1-cplx_fsu_euk,tigrfam_ATPase_V1-cplx_fsu_euk - no_errors ATP6V1F HGNC ATRIP 84126 genome.wustl.edu 37 3 48506424 48506424 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 48506424 48506424 G T SNP ATRIP ENST00000320211 human ensembl 70_37 +1 known missense c.2250 p.Q750H 1.000 NULL NULL - no_errors ATRIP HGNC BDH1 622 genome.wustl.edu 37 3 197281579 197281579 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 197281579 197281579 G A SNP BDH1 ENST00000476764 human ensembl 70_37 -1 putative rna NULL NULL 0.151 - - - no_errors BDH1 HGNC BTBD9 114781 genome.wustl.edu 37 6 38560593 38560593 + Silent SNP T T C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 38560593 38560593 T C SNP BTBD9 ENST00000403056 human ensembl 70_37 -1 known silent c.573 p.L191 0.970 pfam_BACK,smart_BACK pfam_BTB_POZ,pfam_BACK,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_BTB/POZ_fold,superfamily_Galactose-bd-like,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD9 HGNC BTBD9 114781 genome.wustl.edu 37 6 38560593 38560593 + Silent SNP T T C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 38560593 38560593 T C SNP BTBD9 ENST00000403056 human ensembl 70_37 -1 known silent c.573 p.L191 0.970 pfam_BACK,smart_BACK pfam_BTB_POZ,pfam_BACK,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_BTB/POZ_fold,superfamily_Galactose-bd-like,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD9 HGNC C17orf62 79415 genome.wustl.edu 37 17 80402346 80402346 + Missense_Mutation SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 80402346 80402346 C G SNP C17orf62 ENST00000306645 human ensembl 70_37 -1 known missense c.420 p.Q140H 1.000 NULL NULL - no_errors C17orf62 HGNC C17orf62 79415 genome.wustl.edu 37 17 80402346 80402346 + Missense_Mutation SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 80402346 80402346 C G SNP C17orf62 ENST00000306645 human ensembl 70_37 -1 known missense c.420 p.Q140H 1.000 NULL NULL - no_errors C17orf62 HGNC C17orf76-AS1 125144 genome.wustl.edu 37 17 16342647 16342647 + RNA SNP A A G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 16342647 16342647 A G SNP C17orf76-AS1 ENST00000460249 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors C17orf76-AS1 HGNC C17orf76-AS1 125144 genome.wustl.edu 37 17 16342647 16342647 + RNA SNP A A G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 16342647 16342647 A G SNP C17orf76-AS1 ENST00000460249 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors C17orf76-AS1 HGNC C1QL4 338761 genome.wustl.edu 37 12 49729936 49729936 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 49729936 49729936 G A SNP C1QL4 ENST00000334221 human ensembl 70_37 -1 known missense c.325 p.R109C 0.995 superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QL4 HGNC C1QL4 338761 genome.wustl.edu 37 12 49729936 49729936 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 49729936 49729936 G A SNP C1QL4 ENST00000334221 human ensembl 70_37 -1 known missense c.325 p.R109C 0.995 superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QL4 HGNC DNPH1 10591 genome.wustl.edu 37 6 43193806 43193806 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 43193806 43193806 C T SNP C6orf108 ENST00000230431 human ensembl 70_37 -1 known missense c.341 p.R114Q 0.007 pfam_Nucleoside_deoxyribTrfase pfam_Nucleoside_deoxyribTrfase - no_errors C6orf108 HGNC DNPH1 10591 genome.wustl.edu 37 6 43193806 43193806 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 43193806 43193806 C T SNP C6orf108 ENST00000230431 human ensembl 70_37 -1 known missense c.341 p.R114Q 0.007 pfam_Nucleoside_deoxyribTrfase pfam_Nucleoside_deoxyribTrfase - no_errors C6orf108 HGNC CAD 790 genome.wustl.edu 37 2 27465560 27465560 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 2 27465560 27465560 G A SNP CAD ENST00000264705 human ensembl 70_37 +1 known missense c.6295 p.V2099I 1.000 pfam_Asp_carbamoyltransf_Asp/Orn-bd,superfamily_Asp/Orn_carbamoylTrfase,tigrfam_Asp_carbamoyltransf pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC CAD 790 genome.wustl.edu 37 2 27465560 27465560 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 2 27465560 27465560 G A SNP CAD ENST00000264705 human ensembl 70_37 +1 known missense c.6295 p.V2099I 1.000 pfam_Asp_carbamoyltransf_Asp/Orn-bd,superfamily_Asp/Orn_carbamoylTrfase,tigrfam_Asp_carbamoyltransf pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC CAPN12 147968 genome.wustl.edu 37 19 39224780 39224780 + Splice_Site SNP A A C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 39224780 39224780 A C SNP CAPN12 ENST00000328867 human ensembl 70_37 -1 known splice_site c.1878+2 e17+2 0.987 - - - no_errors CAPN12 HGNC CASR 846 genome.wustl.edu 37 3 122003151 122003151 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 122003151 122003151 G T SNP CASR ENST00000498619 human ensembl 70_37 +1 known missense c.2380 p.A794S 1.000 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,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC CASR 846 genome.wustl.edu 37 3 122003151 122003151 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 122003151 122003151 G T SNP CASR ENST00000498619 human ensembl 70_37 +1 known missense c.2380 p.A794S 1.000 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,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC CCDC8 83987 genome.wustl.edu 37 19 46915956 46915956 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 46915956 46915956 G A SNP CCDC8 ENST00000307522 human ensembl 70_37 -1 known missense c.112 p.R38W 1.000 NULL NULL - no_errors CCDC8 HGNC CCDC8 83987 genome.wustl.edu 37 19 46915956 46915956 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 46915956 46915956 G A SNP CCDC8 ENST00000307522 human ensembl 70_37 -1 known missense c.112 p.R38W 1.000 NULL NULL - no_errors CCDC8 HGNC CD55 1604 genome.wustl.edu 37 1 207527419 207527419 + Silent SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 207527419 207527419 C T SNP CD55 ENST00000391920 human ensembl 70_37 +1 known silent c.1149 p.I383 0.000 NULL pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CD55 HGNC CDH7 1005 genome.wustl.edu 37 18 63526275 63526275 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 18 63526275 63526275 C T SNP CDH7 ENST00000323011 human ensembl 70_37 +1 known missense c.1487 p.P496L 0.953 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC CDH7 1005 genome.wustl.edu 37 18 63526275 63526275 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 18 63526275 63526275 C T SNP CDH7 ENST00000323011 human ensembl 70_37 +1 known missense c.1487 p.P496L 0.953 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC CHRNA5 1138 genome.wustl.edu 37 15 78882973 78882973 + Missense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 15 78882973 78882973 C A SNP CHRNA5 ENST00000299565 human ensembl 70_37 +1 known missense c.1240 p.R414S 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA5 HGNC CMKLR1 1240 genome.wustl.edu 37 12 108685762 108685762 + Missense_Mutation SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 108685762 108685762 G C SNP CMKLR1 ENST00000312143 human ensembl 70_37 -1 known missense c.978 p.F326L 1.000 prints_Anphylx_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt - no_errors CMKLR1 HGNC CMKLR1 1240 genome.wustl.edu 37 12 108685762 108685762 + Missense_Mutation SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 108685762 108685762 G C SNP CMKLR1 ENST00000312143 human ensembl 70_37 -1 known missense c.978 p.F326L 1.000 prints_Anphylx_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt - no_errors CMKLR1 HGNC CNGB3 54714 genome.wustl.edu 37 8 87591017 87591017 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 8 87591017 87591017 G T SNP CNGB3 ENST00000320005 human ensembl 70_37 -1 known missense c.2003 p.P668Q 0.053 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC CPA4 51200 genome.wustl.edu 37 7 129962360 129962360 + Silent SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 129962360 129962360 G T SNP CPA4 ENST00000222482 human ensembl 70_37 +1 known silent c.1110 p.A370 0.002 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA4 HGNC CRMP1 1400 genome.wustl.edu 37 4 5844878 5844878 + Missense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 5844878 5844878 C A SNP CRMP1 ENST00000324989 human ensembl 70_37 -1 known missense c.974 p.R325L 1.000 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC CTAGE5 4253 genome.wustl.edu 37 14 39764153 39764153 + Missense_Mutation SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 14 39764153 39764153 C G SNP CTAGE5 ENST00000396158 human ensembl 70_37 +1 known missense c.607 p.Q203E 1.000 NULL NULL - no_errors CTAGE5 HGNC CTAGE5 4253 genome.wustl.edu 37 14 39764153 39764153 + Missense_Mutation SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 14 39764153 39764153 C G SNP CTAGE5 ENST00000396158 human ensembl 70_37 +1 known missense c.607 p.Q203E 1.000 NULL NULL - no_errors CTAGE5 HGNC CYP3A43 64816 genome.wustl.edu 37 7 99445165 99445165 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 99445165 99445165 G A SNP CYP3A43 ENST00000222382 human ensembl 70_37 +1 known missense c.373 p.E125K 0.248 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP3A43 HGNC CYP3A43 64816 genome.wustl.edu 37 7 99445165 99445165 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 99445165 99445165 G A SNP CYP3A43 ENST00000222382 human ensembl 70_37 +1 known missense c.373 p.E125K 0.248 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP3A43 HGNC CYP4F35P 284233 genome.wustl.edu 37 18 14337528 14337528 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 18 14337528 14337528 G T SNP CYP4F35P ENST00000582957 human ensembl 70_37 +1 known rna NULL NULL 0.092 - - - no_errors CYP4F35P HGNC CYSLTR1 10800 genome.wustl.edu 37 X 77529174 77529174 + Missense_Mutation SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d X 77529174 77529174 G C SNP CYSLTR1 ENST00000373304 human ensembl 70_37 -1 known missense c.70 p.Q24E 1.000 prints_Cyst_leuk_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Cyst_leuk_rcpt,prints_CLT1_recept,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors CYSLTR1 HGNC CYSLTR1 10800 genome.wustl.edu 37 X 77529174 77529174 + Missense_Mutation SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d X 77529174 77529174 G C SNP CYSLTR1 ENST00000373304 human ensembl 70_37 -1 known missense c.70 p.Q24E 1.000 prints_Cyst_leuk_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Cyst_leuk_rcpt,prints_CLT1_recept,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors CYSLTR1 HGNC DACT1 51339 genome.wustl.edu 37 14 59113479 59113479 + Missense_Mutation SNP A A G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 14 59113479 59113479 A G SNP DACT1 ENST00000335867 human ensembl 70_37 +1 known missense c.2138 p.Y713C 0.012 NULL NULL - no_errors DACT1 HGNC DACT1 51339 genome.wustl.edu 37 14 59113479 59113479 + Missense_Mutation SNP A A G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 14 59113479 59113479 A G SNP DACT1 ENST00000335867 human ensembl 70_37 +1 known missense c.2138 p.Y713C 0.012 NULL NULL - no_errors DACT1 HGNC DCHS1 8642 genome.wustl.edu 37 11 6650903 6650903 + Missense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 6650903 6650903 C A SNP DCHS1 ENST00000299441 human ensembl 70_37 -1 known missense c.5035 p.G1679W 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC DISP1 84976 genome.wustl.edu 37 1 223116341 223116341 + Missense_Mutation SNP A A G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 223116341 223116341 A G SNP DISP1 ENST00000284476 human ensembl 70_37 +1 known missense c.176 p.N59S 1.000 NULL pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors DISP1 HGNC DISP1 84976 genome.wustl.edu 37 1 223116341 223116341 + Missense_Mutation SNP A A G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 223116341 223116341 A G SNP DISP1 ENST00000284476 human ensembl 70_37 +1 known missense c.176 p.N59S 1.000 NULL pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors DISP1 HGNC DKFZp434L192 222029 genome.wustl.edu 37 7 56564622 56564622 + RNA SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 56564622 56564622 C T SNP DKFZp434L192 ENST00000566570 human ensembl 70_37 +1 known rna NULL NULL 0.024 - - - no_errors RP11-760D2.11 Clone_based_vega_gene DMC1 11144 genome.wustl.edu 37 22 38966095 38966095 + RNA SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 22 38966095 38966095 C T SNP DMC1 ENST00000464842 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors DMC1 HGNC DNAH10 196385 genome.wustl.edu 37 12 124333419 124333419 + Missense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 124333419 124333419 C A SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known missense c.5738 p.T1913N 1.000 smart_AAA+_ATPase 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 DNAH10 196385 genome.wustl.edu 37 12 124333419 124333419 + Missense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 124333419 124333419 C A SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known missense c.5738 p.T1913N 1.000 smart_AAA+_ATPase 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 DNAH2 146754 genome.wustl.edu 37 17 7721995 7721995 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 7721995 7721995 G T SNP DNAH2 ENST00000389173 human ensembl 70_37 +1 known missense c.10571 p.R3524L 0.705 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC DNAI2 64446 genome.wustl.edu 37 17 72308359 72308359 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 72308359 72308359 C T SNP DNAI2 ENST00000311014 human ensembl 70_37 +1 known missense c.1712 p.T571M 0.028 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI2 HGNC DOCK5 80005 genome.wustl.edu 37 8 25198414 25198414 + Missense_Mutation SNP T T A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 8 25198414 25198414 T A SNP DOCK5 ENST00000276440 human ensembl 70_37 +1 known missense c.2349 p.D783E 0.987 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC DSCR9 257203 genome.wustl.edu 37 21 38593057 38593057 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 21 38593057 38593057 G T SNP DSCR9 ENST00000454482 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DSCR9 HGNC ELMO1 9844 genome.wustl.edu 37 7 36910022 36910022 + Missense_Mutation SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 36910022 36910022 C G SNP ELMO1 ENST00000310758 human ensembl 70_37 -1 known missense c.1881 p.E627D 1.000 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ELMO1 9844 genome.wustl.edu 37 7 36910022 36910022 + Missense_Mutation SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 36910022 36910022 C G SNP ELMO1 ENST00000310758 human ensembl 70_37 -1 known missense c.1881 p.E627D 1.000 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ELMOD2 255520 genome.wustl.edu 37 4 141446613 141446613 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 141446613 141446613 G T SNP ELMOD2 ENST00000323570 human ensembl 70_37 +1 known missense c.31 p.G11W 1.000 NULL pfam_Engulfment_cell_motility_ELMO - no_errors ELMOD2 HGNC ELMOD2 255520 genome.wustl.edu 37 4 141446613 141446613 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 141446613 141446613 G T SNP ELMOD2 ENST00000323570 human ensembl 70_37 +1 known missense c.31 p.G11W 1.000 NULL pfam_Engulfment_cell_motility_ELMO - no_errors ELMOD2 HGNC ELMOD2 255520 genome.wustl.edu 37 4 141446614 141446614 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 141446614 141446614 G T SNP ELMOD2 ENST00000323570 human ensembl 70_37 +1 known missense c.32 p.G11V 0.999 NULL pfam_Engulfment_cell_motility_ELMO - no_errors ELMOD2 HGNC ELMOD2 255520 genome.wustl.edu 37 4 141446614 141446614 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 141446614 141446614 G T SNP ELMOD2 ENST00000323570 human ensembl 70_37 +1 known missense c.32 p.G11V 0.999 NULL pfam_Engulfment_cell_motility_ELMO - no_errors ELMOD2 HGNC ENSG00000178636 0 genome.wustl.edu 37 4 120115434 120115434 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 120115434 120115434 C A SNP ENSG00000178636 ENST00000515843 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors RP11-455G16.1 Clone_based_vega_gene ENSG00000199640 0 genome.wustl.edu 37 8 50242806 50242806 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 8 50242806 50242806 C A SNP ENSG00000199640 ENST00000362770 human ensembl 70_37 +1 novel rna NULL NULL 0.005 - - - no_errors 7SK RFAM ENSG00000206595 0 genome.wustl.edu 37 1 51848045 51848045 + RNA SNP T T C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 51848045 51848045 T C SNP ENSG00000206595 ENST00000383868 human ensembl 70_37 +1 novel rna NULL NULL 0.028 - - - no_errors U6 RFAM ENSG00000211459 0 genome.wustl.edu 37 MT 824 824 + RNA SNP T T C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d MT 824 824 T C SNP ENSG00000211459 ENST00000389680 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors J01415.23 Clone_based_ensembl_gene ENSG00000221005 0 genome.wustl.edu 37 X 89045426 89045426 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d X 89045426 89045426 C A SNP ENSG00000221005 ENST00000408078 human ensembl 70_37 +1 novel rna NULL NULL 0.001 - - - no_errors AL161723.1 Clone_based_ensembl_gene ENSG00000221424 0 genome.wustl.edu 37 3 15175921 15175921 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 15175921 15175921 G T SNP ENSG00000221424 ENST00000408497 human ensembl 70_37 -1 novel rna NULL NULL 0.122 - - - no_errors AC090954.1 Clone_based_ensembl_gene ENSG00000221424 0 genome.wustl.edu 37 3 15175921 15175921 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 15175921 15175921 G T SNP ENSG00000221424 ENST00000408497 human ensembl 70_37 -1 novel rna NULL NULL 0.122 - - - no_errors AC090954.1 Clone_based_ensembl_gene ENSG00000224298 0 genome.wustl.edu 37 17 34416981 34416981 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 34416981 34416981 G A SNP ENSG00000224298 ENST00000441575 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC069363.1 Clone_based_vega_gene ENSG00000224635 0 genome.wustl.edu 37 20 37044451 37044451 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 20 37044451 37044451 G T SNP ENSG00000224635 ENST00000422519 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP4-564F22.5 Clone_based_vega_gene ENSG00000224750 0 genome.wustl.edu 37 10 92290388 92290388 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 92290388 92290388 C A SNP ENSG00000224750 ENST00000439157 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-94M14.2 Clone_based_vega_gene ENSG00000227912 0 genome.wustl.edu 37 10 2208584 2208584 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 2208584 2208584 G T SNP ENSG00000227912 ENST00000421077 human ensembl 70_37 +1 known rna NULL NULL 0.032 - - - no_errors RP11-69C17.3 Clone_based_vega_gene ENSG00000232500 0 genome.wustl.edu 37 11 64272849 64272849 + RNA SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 64272849 64272849 C T SNP ENSG00000232500 ENST00000444862 human ensembl 70_37 +1 known rna NULL NULL 0.042 - - - no_errors AP005273.1 Clone_based_vega_gene ENSG00000233937 0 genome.wustl.edu 37 5 180684510 180684510 + RNA SNP A A G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 5 180684510 180684510 A G SNP ENSG00000233937 ENST00000417281 human ensembl 70_37 +1 putative rna NULL NULL 0.640 - - - no_errors CTC-338M12.4 Clone_based_vega_gene ENSG00000234222 0 genome.wustl.edu 37 1 145507648 145507648 + RNA SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 145507648 145507648 G C SNP ENSG00000234222 ENST00000412239 human ensembl 70_37 -1 known rna NULL NULL 0.367 - - - no_errors RP11-315I20.1 Clone_based_vega_gene ENSG00000235118 0 genome.wustl.edu 37 2 207513828 207513828 + RNA SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 2 207513828 207513828 C T SNP ENSG00000235118 ENST00000543490 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC010731.4 Clone_based_vega_gene ENSG00000236372 0 genome.wustl.edu 37 1 232315327 232315327 + RNA SNP A A G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 232315327 232315327 A G SNP ENSG00000236372 ENST00000441459 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP5-865N13.1 Clone_based_vega_gene ENSG00000239791 0 genome.wustl.edu 37 16 30593147 30593147 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 16 30593147 30593147 G T SNP ENSG00000239791 ENST00000486926 human ensembl 70_37 +1 known rna NULL NULL 0.207 - - - no_errors AC002310.7 Clone_based_vega_gene ENSG00000241163 0 genome.wustl.edu 37 3 72085412 72085412 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 72085412 72085412 G T SNP ENSG00000241163 ENST00000468646 human ensembl 70_37 -1 known rna NULL NULL 0.356 - - - no_errors RP11-398A8.3 Clone_based_vega_gene ENSG00000241345 0 genome.wustl.edu 37 7 123666723 123666724 + RNA INS - - T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 123666723 123666724 - T INS ENSG00000241345 ENST00000472838 human ensembl 70_37 +1 known rna NULL NULL 0.031:0.043 - - - no_errors RP4-630C24.3 Clone_based_vega_gene ENSG00000244198 0 genome.wustl.edu 37 7 143977598 143977598 + RNA SNP T T C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 143977598 143977598 T C SNP ENSG00000244198 ENST00000460955 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP4-545C24.1 Clone_based_vega_gene ENSG00000246528 0 genome.wustl.edu 37 8 70749154 70749154 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 8 70749154 70749154 G A SNP ENSG00000246528 ENST00000501104 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-159H10.3 Clone_based_vega_gene ENSG00000249852 0 genome.wustl.edu 37 7 228609 228609 + Silent SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 228609 228609 G T SNP ENSG00000249852 ENST00000514988 human ensembl 70_37 -1 putative silent c.252 p.T84 0.003 NULL NULL - no_errors AC145676.2 Clone_based_vega_gene ENSG00000250042 0 genome.wustl.edu 37 4 188293053 188293053 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 188293053 188293053 G T SNP ENSG00000250042 ENST00000509058 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors RP11-91J3.2 Clone_based_vega_gene ENSG00000251695 0 genome.wustl.edu 37 12 69186401 69186401 + Silent SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 69186401 69186401 G A SNP ENSG00000251695 ENST00000399333 human ensembl 70_37 +1 known silent c.66 p.K22 0.000 NULL NULL - no_errors AC124890.1 Clone_based_ensembl_gene ENSG00000253894 0 genome.wustl.edu 37 8 64384929 64384930 + RNA INS - - T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 8 64384929 64384930 - T INS ENSG00000253894 ENST00000517899 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.003 - - - no_errors RP11-45K10.2 Clone_based_vega_gene ENSG00000254602 0 genome.wustl.edu 37 11 57420263 57420264 + RNA INS - - A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 57420263 57420264 - A INS ENSG00000254602 ENST00000530595 human ensembl 70_37 +1 known rna NULL NULL 0.021:0.015 - - - no_errors AP000662.4 Clone_based_vega_gene ENSG00000255966 0 genome.wustl.edu 37 12 6641851 6641851 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 6641851 6641851 G A SNP ENSG00000255966 ENST00000537921 human ensembl 70_37 -1 known rna NULL NULL 0.015 - - - no_errors RP5-940J5.3 Clone_based_vega_gene ENSG00000256175 0 genome.wustl.edu 37 12 13193160 13193160 + RNA SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 13193160 13193160 C T SNP ENSG00000256175 ENST00000542311 human ensembl 70_37 -1 known rna NULL NULL 0.150 - - - no_errors RP11-377D9.2 Clone_based_vega_gene ENSG00000258066 0 genome.wustl.edu 37 12 78177296 78177296 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 78177296 78177296 C A SNP ENSG00000258066 ENST00000549993 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-781A6.1 Clone_based_vega_gene ENSG00000258497 0 genome.wustl.edu 37 14 101744340 101744340 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 14 101744340 101744340 G A SNP ENSG00000258497 ENST00000555328 human ensembl 70_37 +1 known rna NULL NULL 0.072 - - - no_errors CTD-2561F5.1 Clone_based_vega_gene ENSG00000258851 0 genome.wustl.edu 37 14 104019999 104020000 + RNA INS - - A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 14 104019999 104020000 - A INS ENSG00000258851 ENST00000556332 human ensembl 70_37 +1 known rna NULL NULL 0.058:0.052 - - - no_errors RP11-894P9.2 Clone_based_vega_gene ENSG00000259370 0 genome.wustl.edu 37 15 63126600 63126600 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 15 63126600 63126600 C A SNP ENSG00000259370 ENST00000558888 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-1069G10.1 Clone_based_vega_gene ENSG00000259385 0 genome.wustl.edu 37 15 48484478 48484478 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 15 48484478 48484478 G T SNP ENSG00000259385 ENST00000559875 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-605F22.1 Clone_based_vega_gene ENSG00000259758 0 genome.wustl.edu 37 8 141539356 141539356 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 8 141539356 141539356 G A SNP ENSG00000259758 ENST00000560295 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTA-204B4.6 Clone_based_vega_gene ENSG00000260124 0 genome.wustl.edu 37 20 47980769 47980769 + RNA SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 20 47980769 47980769 C G SNP ENSG00000260124 ENST00000562732 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP4-791K14.2 Clone_based_vega_gene ENSG00000261185 0 genome.wustl.edu 37 1 182612354 182612354 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 182612354 182612354 G T SNP ENSG00000261185 ENST00000570153 human ensembl 70_37 -1 known rna NULL NULL 0.012 - - - no_errors RP11-317P15.5 Clone_based_vega_gene ENSG00000261423 0 genome.wustl.edu 37 15 72765218 72765218 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 15 72765218 72765218 G T SNP ENSG00000261423 ENST00000565181 human ensembl 70_37 -1 known rna NULL NULL 0.008 - - - no_errors RP11-1007O24.3 Clone_based_vega_gene ENSG00000261578 0 genome.wustl.edu 37 11 76512544 76512544 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 76512544 76512544 G T SNP ENSG00000261578 ENST00000566747 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-21L23.2 Clone_based_vega_gene ENSG00000261693 0 genome.wustl.edu 37 8 143486098 143486098 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 8 143486098 143486098 G A SNP ENSG00000261693 ENST00000569285 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP13-467H17.1 Clone_based_vega_gene ENSG00000261705 0 genome.wustl.edu 37 16 66921918 66921918 + RNA SNP T T G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 16 66921918 66921918 T G SNP ENSG00000261705 ENST00000561475 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-61A14.2 Clone_based_vega_gene ENSG00000263706 0 genome.wustl.edu 37 10 111764077 111764077 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 111764077 111764077 G T SNP ENSG00000263706 ENST00000584756 human ensembl 70_37 +1 novel rna NULL NULL 0.056 - - - no_errors Metazoa_SRP RFAM ENSG00000264177 0 genome.wustl.edu 37 17 18291278 18291279 + RNA INS - - G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 18291278 18291279 - G INS ENSG00000264177 ENST00000579352 human ensembl 70_37 -1 known rna NULL NULL 0.309:0.304 - - - no_errors RP1-37N7.1 Clone_based_vega_gene ENSG00000264630 0 genome.wustl.edu 37 17 64400256 64400256 + RNA SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 64400256 64400256 C G SNP ENSG00000264630 ENST00000584614 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-4F22.2 Clone_based_vega_gene ENSG00000265179 0 genome.wustl.edu 37 18 905623 905623 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 18 905623 905623 G A SNP ENSG00000265179 ENST00000577358 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-672L10.2 Clone_based_vega_gene ENSG00000267785 0 genome.wustl.edu 37 17 35082469 35082469 + RNA SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 35082469 35082469 C T SNP ENSG00000267785 ENST00000591939 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-3194G12.2 Clone_based_vega_gene ENSG00000269243 0 genome.wustl.edu 37 19 16250675 16250675 + RNA SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 16250675 16250675 C T SNP ENSG00000269243 ENST00000597983 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2231E14.8 Clone_based_vega_gene ERI3 79033 genome.wustl.edu 37 1 44687112 44687112 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 44687112 44687112 G A SNP ERI3 ENST00000489710 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ERI3 HGNC FAM107B 83641 genome.wustl.edu 37 10 14709633 14709633 + Nonsense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 14709633 14709633 C A SNP FAM107B ENST00000487335 human ensembl 70_37 -1 known nonsense c.469 p.G157* 1.000 NULL NULL - no_errors FAM107B HGNC FAM111A 63901 genome.wustl.edu 37 11 58919992 58919992 + Nonsense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 58919992 58919992 C A SNP FAM111A ENST00000361723 human ensembl 70_37 +1 known nonsense c.851 p.S284* 0.000 NULL pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like - no_errors FAM111A HGNC FAM111A 63901 genome.wustl.edu 37 11 58919992 58919992 + Nonsense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 58919992 58919992 C A SNP FAM111A ENST00000361723 human ensembl 70_37 +1 known nonsense c.851 p.S284* 0.000 NULL pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like - no_errors FAM111A HGNC FAM200B 285550 genome.wustl.edu 37 4 15687994 15687994 + RNA SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 15687994 15687994 G C SNP FAM200B ENST00000502502 human ensembl 70_37 +1 known rna NULL NULL 0.249 - - - no_errors FAM200B HGNC FAM204A 63877 genome.wustl.edu 37 10 120070842 120070843 + RNA INS - - G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 120070842 120070843 - G INS FAM204A ENST00000467890 human ensembl 70_37 -1 known rna NULL NULL 0.010:0.002 - - - no_errors FAM204A HGNC FAM45A 404636 genome.wustl.edu 37 10 120893115 120893115 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 120893115 120893115 C A SNP FAM45A ENST00000462327 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors FAM45A HGNC FAM53C 51307 genome.wustl.edu 37 5 137673983 137673983 + RNA SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 5 137673983 137673983 C T SNP FAM53C ENST00000505768 human ensembl 70_37 +1 known rna NULL NULL 0.989 - - - no_errors FAM53C HGNC TMEM255B 348013 genome.wustl.edu 37 13 114472664 114472664 + RNA SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 13 114472664 114472664 C T SNP FAM70B ENST00000483678 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM70B HGNC FBXL19-AS1 283932 genome.wustl.edu 37 16 30932382 30932382 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 16 30932382 30932382 G T SNP FBXL19-AS1 ENST00000563777 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FBXL19-AS1 HGNC FBXW7 55294 genome.wustl.edu 37 4 153244185 153244185 + Silent SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 153244185 153244185 G T SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known silent c.1972 p.R658 1.000 smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC FLJ41733 400870 genome.wustl.edu 37 21 44786177 44786177 + RNA SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 21 44786177 44786177 C T SNP FLJ41733 ENST00000435702 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AP001046.6 Clone_based_vega_gene FLT4 2324 genome.wustl.edu 37 5 180056292 180056292 + Nonsense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 5 180056292 180056292 G A SNP FLT4 ENST00000261937 human ensembl 70_37 -1 known nonsense c.952 p.R318* 0.008 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT4 HGNC FLT4 2324 genome.wustl.edu 37 5 180056292 180056292 + Nonsense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 5 180056292 180056292 G A SNP FLT4 ENST00000261937 human ensembl 70_37 -1 known nonsense c.952 p.R318* 0.008 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT4 HGNC FLVCR1-AS1 642946 genome.wustl.edu 37 1 213029993 213029993 + RNA SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 213029993 213029993 C G SNP FLVCR1-AS1 ENST00000424044 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors FLVCR1-AS1 HGNC FRMD4B 23150 genome.wustl.edu 37 3 69336920 69336920 + Missense_Mutation SNP T T C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 69336920 69336920 T C SNP FRMD4B ENST00000398540 human ensembl 70_37 -1 known missense c.484 p.K162E 0.992 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,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 FRMD4B 23150 genome.wustl.edu 37 3 69336920 69336920 + Missense_Mutation SNP T T C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 69336920 69336920 T C SNP FRMD4B ENST00000398540 human ensembl 70_37 -1 known missense c.484 p.K162E 0.992 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,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 FTCD 10841 genome.wustl.edu 37 21 47565416 47565416 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 21 47565416 47565416 C T SNP FTCD ENST00000359679 human ensembl 70_37 -1 known missense c.1175 p.R392Q 1.000 pfam_Cyclodeamin/CycHdrlase,superfamily_Cyclodeamin/CycHdrlase pfam_Formiminotransferase_N,pfam_Formiminotransferase_C,pfam_Cyclodeamin/CycHdrlase,superfamily_FormiminoTrfase_N/C_subdom,superfamily_Cyclodeamin/CycHdrlase,tigrfam_Formiminotransferase_cat - no_errors FTCD HGNC FUS 2521 genome.wustl.edu 37 16 31201644 31201644 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 16 31201644 31201644 G T SNP FUS ENST00000254108 human ensembl 70_37 +1 known missense c.1217 p.G406V 0.998 NULL pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors FUS HGNC GALNT9 50614 genome.wustl.edu 37 12 132811487 132811487 + Missense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 132811487 132811487 C A SNP GALNT9 ENST00000535228 human ensembl 70_37 -1 known missense c.201 p.E67D 0.001 NULL pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT9 HGNC GMPR 2766 genome.wustl.edu 37 6 16295255 16295255 + Silent SNP T T G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 16295255 16295255 T G SNP GMPR ENST00000259727 human ensembl 70_37 +1 known silent c.876 p.T292 0.015 pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1 pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1 - no_errors GMPR HGNC GMPR 2766 genome.wustl.edu 37 6 16295255 16295255 + Silent SNP T T G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 16295255 16295255 T G SNP GMPR ENST00000259727 human ensembl 70_37 +1 known silent c.876 p.T292 0.015 pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1 pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1 - no_errors GMPR HGNC GON4L 54856 genome.wustl.edu 37 1 155753850 155753850 + Nonsense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 155753850 155753850 C A SNP GON4L ENST00000368331 human ensembl 70_37 -1 known nonsense c.1819 p.E607* 1.000 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC GON4L 54856 genome.wustl.edu 37 1 155753850 155753850 + Nonsense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 155753850 155753850 C A SNP GON4L ENST00000368331 human ensembl 70_37 -1 known nonsense c.1819 p.E607* 1.000 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC GON4L 54856 genome.wustl.edu 37 1 155754392 155754392 + RNA SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 155754392 155754392 C G SNP GON4L ENST00000467009 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors GON4L HGNC GON4L 54856 genome.wustl.edu 37 1 155755146 155755146 + Silent SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 155755146 155755146 C T SNP GON4L ENST00000368331 human ensembl 70_37 -1 known silent c.1767 p.L589 1.000 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC GON4L 54856 genome.wustl.edu 37 1 155755146 155755146 + Silent SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 155755146 155755146 C T SNP GON4L ENST00000368331 human ensembl 70_37 -1 known silent c.1767 p.L589 1.000 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC GRIA3 2892 genome.wustl.edu 37 X 122387320 122387320 + Silent SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d X 122387320 122387320 G A SNP GRIA3 ENST00000264357 human ensembl 70_37 +1 known silent c.435 p.L145 0.995 pfam_ANF_lig-bd_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA3 HGNC GRIA3 2892 genome.wustl.edu 37 X 122387320 122387320 + Silent SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d X 122387320 122387320 G A SNP GRIA3 ENST00000264357 human ensembl 70_37 +1 known silent c.435 p.L145 0.995 pfam_ANF_lig-bd_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA3 HGNC HERC2 8924 genome.wustl.edu 37 15 28566548 28566548 + Missense_Mutation SNP T T C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 15 28566548 28566548 T C SNP HERC2 ENST00000261609 human ensembl 70_37 -1 known missense c.32 p.Q11R 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC HERC3 8916 genome.wustl.edu 37 4 89628057 89628057 + Silent SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 89628057 89628057 G T SNP HERC3 ENST00000264345 human ensembl 70_37 +1 known silent c.3099 p.L1033 0.991 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC3 HGNC HIRIP3 8479 genome.wustl.edu 37 16 30005773 30005773 + Silent SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 16 30005773 30005773 G T SNP HIRIP3 ENST00000279392 human ensembl 70_37 -1 known silent c.693 p.I231 0.001 NULL pfam_Histone_chaperone_domain_CHZ - no_errors HIRIP3 HGNC HLA-B 3106 genome.wustl.edu 37 6 31324496 31324496 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 31324496 31324496 G T SNP HLA-B ENST00000412585 human ensembl 70_37 -1 known missense c.312 p.N104K 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2 pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-B HGNC HLA-DRB5 3127 genome.wustl.edu 37 6 32487256 32487256 + Silent SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 32487256 32487256 G A SNP HLA-DRB5 ENST00000374975 human ensembl 70_37 -1 known silent c.543 p.D181 1.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DRB5 HGNC HLA-V 352962 genome.wustl.edu 37 6 29760646 29760646 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 29760646 29760646 C A SNP HLA-V ENST00000446817 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors HLA-V HGNC HMCN2 256158 genome.wustl.edu 37 9 133282080 133282080 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 9 133282080 133282080 C A SNP HMCN2 ENST00000480829 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors HMCN2 HGNC HOXA-AS3 100133311 genome.wustl.edu 37 7 27190721 27190721 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 27190721 27190721 G A SNP HOXA-AS3 ENST00000524304 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors HOXA-AS3 HGNC HOXD4 3233 genome.wustl.edu 37 2 177017631 177017631 + Silent SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 2 177017631 177017631 G A SNP HOXD4 ENST00000306324 human ensembl 70_37 +1 known silent c.729 p.P243 0.269 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia,pfscan_Homeodomain - no_errors HOXD4 HGNC HOXD4 3233 genome.wustl.edu 37 2 177017631 177017631 + Silent SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 2 177017631 177017631 G A SNP HOXD4 ENST00000306324 human ensembl 70_37 +1 known silent c.729 p.P243 0.269 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia,pfscan_Homeodomain - no_errors HOXD4 HGNC HPGD 3248 genome.wustl.edu 37 4 175414330 175414330 + Missense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 175414330 175414330 C A SNP HPGD ENST00000296522 human ensembl 70_37 -1 known missense c.634 p.D212Y 1.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_ADH_insect,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HPGD HGNC HPGD 3248 genome.wustl.edu 37 4 175414436 175414436 + Silent SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 175414436 175414436 C T SNP HPGD ENST00000296522 human ensembl 70_37 -1 known silent c.528 p.V176 0.997 prints_Glc/ribitol_DH,prints_ADH_insect,prints_DHB_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_ADH_insect,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HPGD HGNC HPGD 3248 genome.wustl.edu 37 4 175414436 175414436 + Silent SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 175414436 175414436 C T SNP HPGD ENST00000296522 human ensembl 70_37 -1 known silent c.528 p.V176 0.997 prints_Glc/ribitol_DH,prints_ADH_insect,prints_DHB_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_ADH_insect,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HPGD HGNC HSD17B4 3295 genome.wustl.edu 37 5 118844859 118844859 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 5 118844859 118844859 C T SNP HSD17B4 ENST00000256216 human ensembl 70_37 +1 known missense c.1357 p.L453F 0.996 NULL pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC HSD17B4 3295 genome.wustl.edu 37 5 118844859 118844859 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 5 118844859 118844859 C T SNP HSD17B4 ENST00000256216 human ensembl 70_37 +1 known missense c.1357 p.L453F 0.996 NULL pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC HSPA14 51182 genome.wustl.edu 37 10 14886054 14886054 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 14886054 14886054 G T SNP HSPA14 ENST00000494337 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors HSPA14 HGNC IFNAR1 3454 genome.wustl.edu 37 21 34727805 34727805 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 21 34727805 34727805 G A SNP IFNAR1 ENST00000270139 human ensembl 70_37 +1 known missense c.1624 p.D542N 0.985 pirsf_Interferon_alpha/beta_rcpt-1 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1 - no_errors IFNAR1 HGNC IGBP1 3476 genome.wustl.edu 37 X 69353869 69353869 + Silent SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d X 69353869 69353869 C T SNP IGBP1 ENST00000342206 human ensembl 70_37 +1 known silent c.72 p.D24 0.085 pfam_TAP42-like pfam_TAP42-like - no_errors IGBP1 HGNC IGBP1 3476 genome.wustl.edu 37 X 69353869 69353869 + Silent SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d X 69353869 69353869 C T SNP IGBP1 ENST00000342206 human ensembl 70_37 +1 known silent c.72 p.D24 0.085 pfam_TAP42-like pfam_TAP42-like - no_errors IGBP1 HGNC IGFN1 91156 genome.wustl.edu 37 1 201176007 201176007 + Silent SNP A A G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 201176007 201176007 A G SNP IGFN1 ENST00000335211 human ensembl 70_37 +1 known silent c.1986 p.G662 0.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGFN1 HGNC IGHMBP2 3508 genome.wustl.edu 37 11 68703761 68703761 + Silent SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 68703761 68703761 C A SNP IGHMBP2 ENST00000255078 human ensembl 70_37 +1 known silent c.1813 p.R605 0.973 tigrfam_DNA_helicase_put pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put - no_errors IGHMBP2 HGNC INCENP 3619 genome.wustl.edu 37 11 61895726 61895726 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 61895726 61895726 G T SNP INCENP ENST00000394818 human ensembl 70_37 +1 known missense c.93 p.L31F 0.997 pfam_INCENP_N pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC IRS2 8660 genome.wustl.edu 37 13 110438357 110438357 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 13 110438357 110438357 C T SNP IRS2 ENST00000375856 human ensembl 70_37 -1 known missense c.44 p.G15E 0.171 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS2 HGNC JAK3 3718 genome.wustl.edu 37 19 17951037 17951037 + Splice_Site SNP A A G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 17951037 17951037 A G SNP JAK3 ENST00000458235 human ensembl 70_37 -1 known splice_site c.1254+2 e8+2 0.775 - - - no_errors JAK3 HGNC KCNA3 3738 genome.wustl.edu 37 1 111217341 111217341 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 111217341 111217341 C T SNP KCNA3 ENST00000369769 human ensembl 70_37 -1 known missense c.91 p.G31S 0.948 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC KCNQ1OT1 10984 genome.wustl.edu 37 11 2714025 2714025 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 2714025 2714025 G T SNP KCNQ1OT1 ENST00000597346 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors KCNQ1OT1 HGNC KIAA2026 158358 genome.wustl.edu 37 9 6007361 6007361 + Nonsense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 9 6007361 6007361 C A SNP KIAA2026 ENST00000399933 human ensembl 70_37 -1 novel nonsense c.427 p.E143* 1.000 superfamily_Bromodomain superfamily_Bromodomain - no_errors KIAA2026 HGNC KIF11 3832 genome.wustl.edu 37 10 94410249 94410249 + Nonsense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 94410249 94410249 C A SNP KIF11 ENST00000260731 human ensembl 70_37 +1 known nonsense c.3014 p.S1005* 0.009 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF11 HGNC KIFC1 3833 genome.wustl.edu 37 6 33371529 33371529 + Nonsense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 33371529 33371529 G T SNP KIFC1 ENST00000428849 human ensembl 70_37 +1 known nonsense c.379 p.G127* 0.003 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC1 HGNC KIFC1 3833 genome.wustl.edu 37 6 33371529 33371529 + Nonsense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 33371529 33371529 G T SNP KIFC1 ENST00000428849 human ensembl 70_37 +1 known nonsense c.379 p.G127* 0.003 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC1 HGNC KIFC1 3833 genome.wustl.edu 37 6 33371530 33371530 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 33371530 33371530 G A SNP KIFC1 ENST00000428849 human ensembl 70_37 +1 known missense c.380 p.G127E 0.003 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC1 HGNC KIFC1 3833 genome.wustl.edu 37 6 33371530 33371530 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 33371530 33371530 G A SNP KIFC1 ENST00000428849 human ensembl 70_37 +1 known missense c.380 p.G127E 0.003 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC1 HGNC LARP7 51574 genome.wustl.edu 37 4 113578653 113578653 + RNA SNP A A G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 113578653 113578653 A G SNP LARP7 ENST00000503898 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors LARP7 HGNC LINC00243 401247 genome.wustl.edu 37 6 30781149 30781149 + RNA SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 30781149 30781149 C T SNP LINC00243 ENST00000399196 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00243 HGNC LINC00492 100861468 genome.wustl.edu 37 5 101953227 101953227 + RNA SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 5 101953227 101953227 G C SNP LINC00492 ENST00000504436 human ensembl 70_37 +1 known rna NULL NULL 0.147 - - - no_errors LINC00492 HGNC LIPA 3988 genome.wustl.edu 37 10 90984904 90984904 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 90984904 90984904 G A SNP LIPA ENST00000425287 human ensembl 70_37 -1 known missense c.626 p.A209V 0.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,pfam_AB_hydrolase_lipase - no_errors LIPA HGNC LIPA 3988 genome.wustl.edu 37 10 90984904 90984904 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 90984904 90984904 G A SNP LIPA ENST00000425287 human ensembl 70_37 -1 known missense c.626 p.A209V 0.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,pfam_AB_hydrolase_lipase - no_errors LIPA HGNC LOC100131320 100131320 genome.wustl.edu 37 2 130724286 130724287 + RNA INS - - C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 2 130724286 130724287 - C INS LOC100131320 ENST00000412425 human ensembl 70_37 -1 known rna NULL NULL 0.002:0.001 - - - no_errors AC079776.7 Clone_based_vega_gene LOC100132077 100132077 genome.wustl.edu 37 9 97123046 97123046 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 9 97123046 97123046 G A SNP LOC100132077 ENST00000454869 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-307E17.8 Clone_based_vega_gene LOC100144604 100144604 genome.wustl.edu 37 15 93114612 93114612 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 15 93114612 93114612 G A SNP LOC100144604 ENST00000557075 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-304N14.2 Clone_based_vega_gene LOC100506123 100506123 genome.wustl.edu 37 2 98088527 98088527 + RNA SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 2 98088527 98088527 G C SNP LOC100506123 ENST00000431244 human ensembl 70_37 -1 known rna NULL NULL 0.142 - - - no_errors AC159540.1 Clone_based_vega_gene LOC100506216 100506216 genome.wustl.edu 37 2 6765210 6765210 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 2 6765210 6765210 C A SNP LOC100506216 ENST00000589150 human ensembl 70_37 -1 known rna NULL NULL 0.014 - - - no_errors AC097517.2 Clone_based_vega_gene LOC100996381 100996381 genome.wustl.edu 37 19 24248750 24248750 + RNA SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 24248750 24248750 C T SNP LOC100996381 ENST00000594934 human ensembl 70_37 +1 known rna NULL NULL 0.180 - - - no_errors CTD-2017D11.1 Clone_based_vega_gene LOC283867 283867 genome.wustl.edu 37 16 65409133 65409133 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 16 65409133 65409133 G A SNP LOC283867 ENST00000564041 human ensembl 70_37 -1 known rna NULL NULL 0.027 - - - no_errors RP11-256I9.1 Clone_based_vega_gene LOC441167 441167 genome.wustl.edu 37 6 114320894 114320894 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 114320894 114320894 G T SNP LOC441167 ENST00000421891 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP3-399L15.3 Clone_based_vega_gene LOC732275 732275 genome.wustl.edu 37 16 86366189 86366189 + RNA SNP A A T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 16 86366189 86366189 A T SNP LOC732275 ENST00000594203 human ensembl 70_37 -1 known rna NULL NULL 0.017 - - - no_errors RP11-158I3.2 Clone_based_vega_gene LRP5 4041 genome.wustl.edu 37 11 68131409 68131409 + Missense_Mutation SNP T T A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 68131409 68131409 T A SNP LRP5 ENST00000294304 human ensembl 70_37 +1 known missense c.881 p.F294Y 0.032 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,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC LRP5 4041 genome.wustl.edu 37 11 68131409 68131409 + Missense_Mutation SNP T T A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 68131409 68131409 T A SNP LRP5 ENST00000294304 human ensembl 70_37 +1 known missense c.881 p.F294Y 0.032 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,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC LRRC37A11P 342666 genome.wustl.edu 37 17 37200751 37200751 + RNA SNP T T C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 37200751 37200751 T C SNP LRRC37A11P ENST00000425901 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors LRRC37A11P HGNC LRRC37A2 474170 genome.wustl.edu 37 17 44623731 44623731 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 44623731 44623731 C T SNP LRRC37A2 ENST00000333412 human ensembl 70_37 +1 known missense c.3164 p.T1055I 0.001 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A2 HGNC MAEA 10296 genome.wustl.edu 37 4 1293467 1293467 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 1293467 1293467 C A SNP MAEA ENST00000510862 human ensembl 70_37 +1 putative rna NULL NULL 0.002 - - - no_errors MAEA HGNC MAEA 10296 genome.wustl.edu 37 4 1293500 1293500 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 1293500 1293500 C A SNP MAEA ENST00000510862 human ensembl 70_37 +1 putative rna NULL NULL 0.014 - - - no_errors MAEA HGNC MAML2 84441 genome.wustl.edu 37 11 95825167 95825167 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 95825167 95825167 G T SNP MAML2 ENST00000440572 human ensembl 70_37 -1 known missense c.2028 p.S676R 0.849 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC MAP2K5 5607 genome.wustl.edu 37 15 67838612 67838612 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 15 67838612 67838612 G T SNP MAP2K5 ENST00000560086 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MAP2K5 HGNC MATN4 8785 genome.wustl.edu 37 20 43929600 43929600 + Silent SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 20 43929600 43929600 C G SNP MATN4 ENST00000372754 human ensembl 70_37 -1 known silent c.1062 p.V354 1.000 smart_EGF-like_Ca-bd,smart_EG-like_dom pfam_VWF_A,pfam_EGF-like_Ca-bd,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_VWF_A - no_errors MATN4 HGNC MFAP4 4239 genome.wustl.edu 37 17 19288463 19288463 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 19288463 19288463 C T SNP MFAP4 ENST00000395592 human ensembl 70_37 -1 known missense c.541 p.E181K 0.995 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors MFAP4 HGNC MFAP4 4239 genome.wustl.edu 37 17 19288463 19288463 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 19288463 19288463 C T SNP MFAP4 ENST00000395592 human ensembl 70_37 -1 known missense c.541 p.E181K 0.995 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors MFAP4 HGNC MFGE8 4240 genome.wustl.edu 37 15 89450573 89450573 + Silent SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 15 89450573 89450573 G A SNP MFGE8 ENST00000268150 human ensembl 70_37 -1 known silent c.240 p.N80 0.922 superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors MFGE8 HGNC MFGE8 4240 genome.wustl.edu 37 15 89450573 89450573 + Silent SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 15 89450573 89450573 G A SNP MFGE8 ENST00000268150 human ensembl 70_37 -1 known silent c.240 p.N80 0.922 superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors MFGE8 HGNC MIR548X2 100616302 genome.wustl.edu 37 13 66540508 66540508 + RNA SNP T T G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 13 66540508 66540508 T G SNP MIR548X2 ENST00000579776 human ensembl 70_37 -1 known rna NULL NULL 0.889 - - - no_errors MIR548X2 HGNC KMT2D 8085 genome.wustl.edu 37 12 49425644 49425644 + Nonsense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 49425644 49425644 G A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known nonsense c.12844 p.R4282* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC KMT2D 8085 genome.wustl.edu 37 12 49425644 49425644 + Nonsense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 49425644 49425644 G A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known nonsense c.12844 p.R4282* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC KMT2D 8085 genome.wustl.edu 37 12 49434415 49434415 + Nonsense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 49434415 49434415 G A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known nonsense c.7138 p.Q2380* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC KMT2D 8085 genome.wustl.edu 37 12 49434415 49434415 + Nonsense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 49434415 49434415 G A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known nonsense c.7138 p.Q2380* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC MNT 4335 genome.wustl.edu 37 17 2290273 2290273 + Silent SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 2290273 2290273 C A SNP MNT ENST00000174618 human ensembl 70_37 -1 known silent c.1671 p.L557 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors MNT HGNC MST1 4485 genome.wustl.edu 37 3 49723542 49723542 + Missense_Mutation SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 49723542 49723542 G C SNP MST1 ENST00000449682 human ensembl 70_37 -1 known missense c.1100 p.A367G 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors MST1 HGNC MTHFD2L 441024 genome.wustl.edu 37 4 75026396 75026397 + RNA INS - - A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 75026396 75026397 - A INS MTHFD2L ENST00000461101 human ensembl 70_37 +1 putative rna NULL NULL 0.001:0.000 - - - no_errors MTHFD2L HGNC MUC16 94025 genome.wustl.edu 37 19 9065853 9065853 + Missense_Mutation SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 9065853 9065853 G C SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.21593 p.S7198C 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC16 94025 genome.wustl.edu 37 19 9065853 9065853 + Missense_Mutation SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 9065853 9065853 G C SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.21593 p.S7198C 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC16 94025 genome.wustl.edu 37 19 9067041 9067041 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 9067041 9067041 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.20405 p.S6802F 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC16 94025 genome.wustl.edu 37 19 9067041 9067041 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 9067041 9067041 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.20405 p.S6802F 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC16 94025 genome.wustl.edu 37 19 9068288 9068288 + Silent SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 9068288 9068288 G C SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known silent c.19158 p.V6386 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC16 94025 genome.wustl.edu 37 19 9068288 9068288 + Silent SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 9068288 9068288 G C SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known silent c.19158 p.V6386 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC4 4585 genome.wustl.edu 37 3 195508149 195508149 + Silent SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 195508149 195508149 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known silent c.10302 p.S3434 0.008 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 NDP-AS1 100873919 genome.wustl.edu 37 X 43820066 43820066 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d X 43820066 43820066 G A SNP NDP-AS1 ENST00000435093 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NDP-AS1 HGNC NEO1 4756 genome.wustl.edu 37 15 73552728 73552728 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 15 73552728 73552728 G T SNP NEO1 ENST00000261908 human ensembl 70_37 +1 known missense c.2320 p.G774C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NEO1 HGNC NLRP6 171389 genome.wustl.edu 37 11 281810 281810 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 281810 281810 G T SNP NLRP6 ENST00000312165 human ensembl 70_37 +1 known missense c.2076 p.K692N 0.108 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP6 HGNC NPAP1 23742 genome.wustl.edu 37 15 24923096 24923096 + Silent SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 15 24923096 24923096 C A SNP NPAP1 ENST00000329468 human ensembl 70_37 +1 known silent c.2082 p.P694 0.000 NULL NULL - no_errors NPAP1 HGNC NPAP1 23742 genome.wustl.edu 37 15 24923096 24923096 + Silent SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 15 24923096 24923096 C A SNP NPAP1 ENST00000329468 human ensembl 70_37 +1 known silent c.2082 p.P694 0.000 NULL NULL - no_errors NPAP1 HGNC NUPL1 9818 genome.wustl.edu 37 13 25889520 25889520 + Missense_Mutation SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 13 25889520 25889520 G C SNP NUPL1 ENST00000381736 human ensembl 70_37 +1 known missense c.600 p.L200F 1.000 NULL NULL - no_errors NUPL1 HGNC NUPL1 9818 genome.wustl.edu 37 13 25889520 25889520 + Missense_Mutation SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 13 25889520 25889520 G C SNP NUPL1 ENST00000381736 human ensembl 70_37 +1 known missense c.600 p.L200F 1.000 NULL NULL - no_errors NUPL1 HGNC OAS2 4939 genome.wustl.edu 37 12 113442868 113442868 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 113442868 113442868 G A SNP OAS2 ENST00000342315 human ensembl 70_37 +1 known missense c.1309 p.E437K 0.000 pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS2 HGNC OAS2 4939 genome.wustl.edu 37 12 113442868 113442868 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 113442868 113442868 G A SNP OAS2 ENST00000342315 human ensembl 70_37 +1 known missense c.1309 p.E437K 0.000 pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS2 HGNC OAS2 4939 genome.wustl.edu 37 12 113442910 113442910 + Missense_Mutation SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 113442910 113442910 G C SNP OAS2 ENST00000342315 human ensembl 70_37 +1 known missense c.1351 p.E451Q 0.001 NULL pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS2 HGNC OAS2 4939 genome.wustl.edu 37 12 113442910 113442910 + Missense_Mutation SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 113442910 113442910 G C SNP OAS2 ENST00000342315 human ensembl 70_37 +1 known missense c.1351 p.E451Q 0.001 NULL pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS2 HGNC OR4K14 122740 genome.wustl.edu 37 14 20482425 20482425 + Nonsense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 14 20482425 20482425 G A SNP OR4K14 ENST00000305045 human ensembl 70_37 -1 known nonsense c.928 p.Q310* 0.068 NULL pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4K14 HGNC OR4K14 122740 genome.wustl.edu 37 14 20482425 20482425 + Nonsense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 14 20482425 20482425 G A SNP OR4K14 ENST00000305045 human ensembl 70_37 -1 known nonsense c.928 p.Q310* 0.068 NULL pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4K14 HGNC OR8J3 81168 genome.wustl.edu 37 11 55904865 55904865 + Silent SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 55904865 55904865 C T SNP OR8J3 ENST00000301529 human ensembl 70_37 -1 known silent c.330 p.S110 0.002 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 OR8J3 HGNC OR8J3 81168 genome.wustl.edu 37 11 55904865 55904865 + Silent SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 55904865 55904865 C T SNP OR8J3 ENST00000301529 human ensembl 70_37 -1 known silent c.330 p.S110 0.002 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 OR8J3 HGNC PABPC1L 80336 genome.wustl.edu 37 20 43550254 43550254 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 20 43550254 43550254 G T SNP PABPC1L ENST00000217073 human ensembl 70_37 +1 known missense c.758 p.G253V 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC1L HGNC PCDH17 27253 genome.wustl.edu 37 13 58208845 58208845 + Missense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 13 58208845 58208845 C A SNP PCDH17 ENST00000377918 human ensembl 70_37 +1 known missense c.2165 p.A722D 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC PCDHAC1 56135 genome.wustl.edu 37 5 140308267 140308267 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 5 140308267 140308267 C T SNP PCDHAC1 ENST00000253807 human ensembl 70_37 +1 known missense c.1790 p.S597F 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 PCDHAC1 HGNC PCDHAC1 56135 genome.wustl.edu 37 5 140308267 140308267 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 5 140308267 140308267 C T SNP PCDHAC1 ENST00000253807 human ensembl 70_37 +1 known missense c.1790 p.S597F 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 PCDHAC1 HGNC PGLYRP2 114770 genome.wustl.edu 37 19 15586353 15586353 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 15586353 15586353 G T SNP PGLYRP2 ENST00000292609 human ensembl 70_37 -1 known missense c.1128 p.F376L 1.000 NULL pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP2 HGNC PIK3AP1 118788 genome.wustl.edu 37 10 98408550 98408550 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 98408550 98408550 G T SNP PIK3AP1 ENST00000339364 human ensembl 70_37 -1 known missense c.1051 p.L351I 1.000 superfamily_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom - no_errors PIK3AP1 HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC PLSCR4 57088 genome.wustl.edu 37 3 145913067 145913067 + Silent SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 145913067 145913067 G C SNP PLSCR4 ENST00000354952 human ensembl 70_37 -1 known silent c.789 p.V263 0.020 pfam_Scramblase pfam_Scramblase - no_errors PLSCR4 HGNC PLSCR4 57088 genome.wustl.edu 37 3 145913067 145913067 + Silent SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 145913067 145913067 G C SNP PLSCR4 ENST00000354952 human ensembl 70_37 -1 known silent c.789 p.V263 0.020 pfam_Scramblase pfam_Scramblase - no_errors PLSCR4 HGNC PM20D2 135293 genome.wustl.edu 37 6 89856088 89856088 + Missense_Mutation SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 89856088 89856088 G C SNP PM20D2 ENST00000275072 human ensembl 70_37 +1 known missense c.225 p.W75C 1.000 pirsf_Pept_M20D_amidohydro_pred pfam_Peptidase_M20_dimer,pfam_Peptidase_M20,superfamily_Peptidase_M20_dimer,pirsf_Pept_M20D_amidohydro_pred - no_errors PM20D2 HGNC PNLIPRP3 119548 genome.wustl.edu 37 10 118203952 118203952 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 118203952 118203952 G T SNP PNLIPRP3 ENST00000369230 human ensembl 70_37 +1 known missense c.383 p.R128L 0.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase_panc pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc - no_errors PNLIPRP3 HGNC POLG 5428 genome.wustl.edu 37 15 89864064 89864064 + Silent SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 15 89864064 89864064 G T SNP POLG ENST00000268124 human ensembl 70_37 -1 known silent c.2914 p.R972 1.000 pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC POLR3E 55718 genome.wustl.edu 37 16 22334233 22334233 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 16 22334233 22334233 G T SNP POLR3E ENST00000299853 human ensembl 70_37 +1 known missense c.1049 p.C350F 1.000 pfam_RNA_pol_III_Rpc5 pfam_RNA_pol_III_Rpc5 - no_errors POLR3E HGNC POLR3E 55718 genome.wustl.edu 37 16 22334233 22334233 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 16 22334233 22334233 G T SNP POLR3E ENST00000299853 human ensembl 70_37 +1 known missense c.1049 p.C350F 1.000 pfam_RNA_pol_III_Rpc5 pfam_RNA_pol_III_Rpc5 - no_errors POLR3E HGNC PPP2R2D 55844 genome.wustl.edu 37 10 133757608 133757608 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 133757608 133757608 G T SNP PPP2R2D ENST00000455566 human ensembl 70_37 +1 known missense c.521 p.R174I 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2D HGNC PRAMEF4 400735 genome.wustl.edu 37 1 12941851 12941851 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 12941851 12941851 C T SNP PRAMEF4 ENST00000235349 human ensembl 70_37 -1 known missense c.699 p.M233I 0.004 NULL NULL - no_errors PRAMEF4 HGNC PRAMEF4 400735 genome.wustl.edu 37 1 12941851 12941851 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 12941851 12941851 C T SNP PRAMEF4 ENST00000235349 human ensembl 70_37 -1 known missense c.699 p.M233I 0.004 NULL NULL - no_errors PRAMEF4 HGNC PRMT5 10419 genome.wustl.edu 37 14 23394235 23394235 + Silent SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 14 23394235 23394235 G A SNP PRMT5 ENST00000324366 human ensembl 70_37 -1 known silent c.792 p.F264 1.000 pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5 pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5 - no_errors PRMT5 HGNC PROX1-AS1 100505832 genome.wustl.edu 37 1 214152667 214152667 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 214152667 214152667 G A SNP PROX1-AS1 ENST00000598091 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PROX1-AS1 HGNC PSG4 5672 genome.wustl.edu 37 19 43708080 43708080 + Missense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 43708080 43708080 C A SNP PSG4 ENST00000405312 human ensembl 70_37 -1 known missense c.388 p.G130W 0.000 smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG4 HGNC PTCHD2 57540 genome.wustl.edu 37 1 11575526 11575526 + Silent SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 11575526 11575526 G C SNP PTCHD2 ENST00000294484 human ensembl 70_37 +1 known silent c.1554 p.L518 1.000 pfam_Patched,pfam_MMPL-typ,pfscan_SSD pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors PTCHD2 HGNC PTCHD2 57540 genome.wustl.edu 37 1 11575526 11575526 + Silent SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 11575526 11575526 G C SNP PTCHD2 ENST00000294484 human ensembl 70_37 +1 known silent c.1554 p.L518 1.000 pfam_Patched,pfam_MMPL-typ,pfscan_SSD pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors PTCHD2 HGNC QRICH2 84074 genome.wustl.edu 37 17 74288517 74288517 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 74288517 74288517 G T SNP QRICH2 ENST00000262765 human ensembl 70_37 -1 known missense c.1793 p.P598H 0.004 NULL NULL - no_errors QRICH2 HGNC QRICH2 84074 genome.wustl.edu 37 17 74288517 74288517 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 74288517 74288517 G T SNP QRICH2 ENST00000262765 human ensembl 70_37 -1 known missense c.1793 p.P598H 0.004 NULL NULL - no_errors QRICH2 HGNC RBM4 5936 genome.wustl.edu 37 11 66411229 66411229 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 66411229 66411229 G A SNP RBM4 ENST00000310092 human ensembl 70_37 +1 known missense c.721 p.V241M 0.998 NULL pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors RBM4 HGNC RBM4 5936 genome.wustl.edu 37 11 66411229 66411229 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 66411229 66411229 G A SNP RBM4 ENST00000310092 human ensembl 70_37 +1 known missense c.721 p.V241M 0.998 NULL pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors RBM4 HGNC RIT1 6016 genome.wustl.edu 37 1 155874261 155874261 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 155874261 155874261 C T SNP RIT1 ENST00000368323 human ensembl 70_37 -1 known missense c.270 p.M90I 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RIT1 HGNC RIT1 6016 genome.wustl.edu 37 1 155874261 155874261 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 155874261 155874261 C T SNP RIT1 ENST00000368323 human ensembl 70_37 -1 known missense c.270 p.M90I 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RIT1 HGNC RNF152 220441 genome.wustl.edu 37 18 59560071 59560071 + RNA SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 18 59560071 59560071 C T SNP RNF152 ENST00000588396 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RNF152 HGNC ROR2 4920 genome.wustl.edu 37 9 94495419 94495419 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 9 94495419 94495419 C T SNP ROR2 ENST00000375708 human ensembl 70_37 -1 known missense c.922 p.E308K 0.999 superfamily_Kringle-like,pirsf_Tyr_kinase_rcpt_ROR 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 ROR2 4920 genome.wustl.edu 37 9 94495419 94495419 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 9 94495419 94495419 C T SNP ROR2 ENST00000375708 human ensembl 70_37 -1 known missense c.922 p.E308K 0.999 superfamily_Kringle-like,pirsf_Tyr_kinase_rcpt_ROR 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 RPL23AP79 100271626 genome.wustl.edu 37 19 59093704 59093704 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 59093704 59093704 C A SNP RPL23AP79 ENST00000493504 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RPL23AP79 HGNC RTTN 25914 genome.wustl.edu 37 18 67781755 67781755 + Silent SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 18 67781755 67781755 G A SNP RTTN ENST00000255674 human ensembl 70_37 -1 known silent c.3609 p.V1203 1.000 NULL superfamily_ARM-type_fold - no_errors RTTN HGNC RTTN 25914 genome.wustl.edu 37 18 67781755 67781755 + Silent SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 18 67781755 67781755 G A SNP RTTN ENST00000255674 human ensembl 70_37 -1 known silent c.3609 p.V1203 1.000 NULL superfamily_ARM-type_fold - no_errors RTTN HGNC RYR1 6261 genome.wustl.edu 37 19 39051944 39051944 + Silent SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 39051944 39051944 C T SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known silent c.12474 p.R4158 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC RYR1 6261 genome.wustl.edu 37 19 39051944 39051944 + Silent SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 39051944 39051944 C T SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known silent c.12474 p.R4158 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC S1PR2 9294 genome.wustl.edu 37 19 10333441 10333441 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 10333441 10333441 G T SNP S1PR2 ENST00000317726 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors S1PR2 HGNC SAA3P 6290 genome.wustl.edu 37 11 18134753 18134753 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 18134753 18134753 C A SNP SAA3P ENST00000534768 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SAA3P HGNC SEC24C 9632 genome.wustl.edu 37 10 75523302 75523302 + Nonsense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 75523302 75523302 G T SNP SEC24C ENST00000339365 human ensembl 70_37 +1 known nonsense c.1042 p.G348* 1.000 NULL 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 SEC24C HGNC SEPT1 1731 genome.wustl.edu 37 16 30394217 30394217 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 16 30394217 30394217 G T SNP SEPT1 ENST00000567783 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors SEPT1 HGNC SEPT2 4735 genome.wustl.edu 37 2 242265494 242265495 + Frame_Shift_Ins INS - - A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 2 242265494 242265495 - A INS SEPT2 ENST00000360051 human ensembl 70_37 +1 known frame_shift_ins c.96_97 p.G34fs 0.999:1.000 pfam_Cell_div_GTP-bd,pirsf_Septin pfam_Cell_div_GTP-bd,pirsf_Septin,prints_Septin2 - no_errors SEPT2 HGNC SEPT2 4735 genome.wustl.edu 37 2 242265494 242265495 + Frame_Shift_Ins INS - - A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 2 242265494 242265495 - A INS SEPT2 ENST00000360051 human ensembl 70_37 +1 known frame_shift_ins c.96_97 p.G34fs 0.999:1.000 pfam_Cell_div_GTP-bd,pirsf_Septin pfam_Cell_div_GTP-bd,pirsf_Septin,prints_Septin2 - no_errors SEPT2 HGNC SFXN4 119559 genome.wustl.edu 37 10 120916222 120916222 + Missense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 120916222 120916222 C A SNP SFXN4 ENST00000355697 human ensembl 70_37 -1 known missense c.584 p.W195L 0.000 pfam_Mtc pfam_Mtc - no_errors SFXN4 HGNC SLC25A42 284439 genome.wustl.edu 37 19 19221580 19221580 + Silent SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 19221580 19221580 C G SNP SLC25A42 ENST00000318596 human ensembl 70_37 +1 known silent c.852 p.L284 0.994 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Graves_DC pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A42 HGNC SLC25A42 284439 genome.wustl.edu 37 19 19221580 19221580 + Silent SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 19221580 19221580 C G SNP SLC25A42 ENST00000318596 human ensembl 70_37 +1 known silent c.852 p.L284 0.994 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Graves_DC pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A42 HGNC SLC25A46 91137 genome.wustl.edu 37 5 110089020 110089020 + RNA SNP A A T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 5 110089020 110089020 A T SNP SLC25A46 ENST00000513706 human ensembl 70_37 +1 putative rna NULL NULL 0.001 - - - no_errors SLC25A46 HGNC SLC34A3 142680 genome.wustl.edu 37 9 140126613 140126613 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 9 140126613 140126613 G A SNP SLC34A3 ENST00000361134 human ensembl 70_37 +1 known missense c.175 p.E59K 1.000 NULL pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A3 HGNC SLC34A3 142680 genome.wustl.edu 37 9 140126613 140126613 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 9 140126613 140126613 G A SNP SLC34A3 ENST00000361134 human ensembl 70_37 +1 known missense c.175 p.E59K 1.000 NULL pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A3 HGNC SLC35A2 7355 genome.wustl.edu 37 X 48762065 48762065 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d X 48762065 48762065 G A SNP SLC35A2 ENST00000452555 human ensembl 70_37 -1 known missense c.1205 p.S402F 1.000 NULL pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A2 HGNC SMC3 9126 genome.wustl.edu 37 10 112349666 112349666 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 112349666 112349666 G A SNP SMC3 ENST00000361804 human ensembl 70_37 +1 known missense c.1426 p.E476K 1.000 pfam_RecF/RecN/SMC,superfamily_SMC_hinge pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC3 HGNC SMC3 9126 genome.wustl.edu 37 10 112349666 112349666 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 112349666 112349666 G A SNP SMC3 ENST00000361804 human ensembl 70_37 +1 known missense c.1426 p.E476K 1.000 pfam_RecF/RecN/SMC,superfamily_SMC_hinge pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC3 HGNC SMG6 23293 genome.wustl.edu 37 17 2139835 2139835 + Silent SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 2139835 2139835 C G SNP SMG6 ENST00000263073 human ensembl 70_37 -1 known silent c.2820 p.L940 0.994 NULL pfam_EST1,smart_PINc_nuc-bd - no_errors SMG6 HGNC SMG6 23293 genome.wustl.edu 37 17 2139835 2139835 + Silent SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 17 2139835 2139835 C G SNP SMG6 ENST00000263073 human ensembl 70_37 -1 known silent c.2820 p.L940 0.994 NULL pfam_EST1,smart_PINc_nuc-bd - no_errors SMG6 HGNC SMPD3 55512 genome.wustl.edu 37 16 68398472 68398472 + RNA SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 16 68398472 68398472 C T SNP SMPD3 ENST00000566009 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SMPD3 HGNC SNHG11 128439 genome.wustl.edu 37 20 37076969 37076969 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 20 37076969 37076969 C A SNP SNHG11 ENST00000400436 human ensembl 70_37 +1 known rna NULL NULL 0.026 - - - no_errors SNHG11 HGNC SNTA1 6640 genome.wustl.edu 37 20 31996362 31996362 + Missense_Mutation SNP A A T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 20 31996362 31996362 A T SNP SNTA1 ENST00000217381 human ensembl 70_37 -1 known missense c.1469 p.I490N 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTA1 HGNC SNTA1 6640 genome.wustl.edu 37 20 31996362 31996362 + Missense_Mutation SNP A A T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 20 31996362 31996362 A T SNP SNTA1 ENST00000217381 human ensembl 70_37 -1 known missense c.1469 p.I490N 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTA1 HGNC SPATC1L 84221 genome.wustl.edu 37 21 47581929 47581929 + Silent SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 21 47581929 47581929 G A SNP SPATC1L ENST00000291672 human ensembl 70_37 -1 known silent c.597 p.I199 0.996 NULL NULL - no_errors SPATC1L HGNC SPRED3 399473 genome.wustl.edu 37 19 38886143 38886143 + Silent SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 38886143 38886143 C T SNP SPRED3 ENST00000338502 human ensembl 70_37 +1 known silent c.591 p.F197 1.000 NULL pfam_Sprouty,pfam_EVH1,smart_EVH1,pfscan_EVH1 - no_errors SPRED3 HGNC SPTBN4 57731 genome.wustl.edu 37 19 41066134 41066134 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 41066134 41066134 G T SNP SPTBN4 ENST00000352632 human ensembl 70_37 +1 known missense c.5740 p.A1914S 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ST5 6764 genome.wustl.edu 37 11 8832353 8832354 + RNA INS - - TC TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 8832353 8832354 - TC INS ST5 ENST00000531237 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.002 - - - no_errors ST5 HGNC STARD9 57519 genome.wustl.edu 37 15 42930937 42930937 + Silent SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 15 42930937 42930937 G A SNP STARD9 ENST00000290607 human ensembl 70_37 +1 known silent c.486 p.L162 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC SYNE1 23345 genome.wustl.edu 37 6 152716799 152716799 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 152716799 152716799 C T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.7564 p.D2522N 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC SYNE1 23345 genome.wustl.edu 37 6 152716799 152716799 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 6 152716799 152716799 C T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.7564 p.D2522N 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC TAS2R46 259292 genome.wustl.edu 37 12 11214392 11214392 + Silent SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 11214392 11214392 G A SNP TAS2R46 ENST00000533467 human ensembl 70_37 -1 known silent c.502 p.L168 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R46 HGNC THBD 7056 genome.wustl.edu 37 20 23028472 23028472 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 20 23028472 23028472 G T SNP THBD ENST00000377103 human ensembl 70_37 -1 known missense c.1670 p.P557H 0.058 pirsf_CD93/CD141,prints_Thrombomodulin pfam_Tme5_EGF-like,pfam_EGF-like_Ca-bd,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_CD93/CD141,pfscan_C-type_lectin,prints_Thrombomodulin - no_errors THBD HGNC TMC4 147798 genome.wustl.edu 37 19 54675749 54675749 + Missense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 54675749 54675749 C A SNP TMC4 ENST00000301187 human ensembl 70_37 -1 known missense c.183 p.E61D 0.003 NULL pfam_TMC - no_errors TMC4 HGNC TMCO2 127391 genome.wustl.edu 37 1 40717196 40717196 + Missense_Mutation SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 40717196 40717196 C G SNP TMCO2 ENST00000372766 human ensembl 70_37 +1 known missense c.479 p.S160C 0.996 NULL NULL - no_errors TMCO2 HGNC TMCO2 127391 genome.wustl.edu 37 1 40717196 40717196 + Missense_Mutation SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 40717196 40717196 C G SNP TMCO2 ENST00000372766 human ensembl 70_37 +1 known missense c.479 p.S160C 0.996 NULL NULL - no_errors TMCO2 HGNC TMEM174 134288 genome.wustl.edu 37 5 72469967 72469967 + Missense_Mutation SNP A A G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 5 72469967 72469967 A G SNP TMEM174 ENST00000296776 human ensembl 70_37 +1 known missense c.707 p.E236G 1.000 NULL NULL - no_errors TMEM174 HGNC TMEM174 134288 genome.wustl.edu 37 5 72469967 72469967 + Missense_Mutation SNP A A G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 5 72469967 72469967 A G SNP TMEM174 ENST00000296776 human ensembl 70_37 +1 known missense c.707 p.E236G 1.000 NULL NULL - no_errors TMEM174 HGNC TMEM70 54968 genome.wustl.edu 37 8 74888116 74888117 + RNA INS - - A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 8 74888116 74888117 - A INS TMEM70 ENST00000520167 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors TMEM70 HGNC TMPRSS3 64699 genome.wustl.edu 37 21 43792007 43792007 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 21 43792007 43792007 G A SNP TMPRSS3 ENST00000474596 human ensembl 70_37 -1 putative rna NULL NULL 0.022 - - - no_errors TMPRSS3 HGNC TNFAIP8L1 126282 genome.wustl.edu 37 19 4640537 4640537 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 4640537 4640537 C A SNP TNFAIP8L1 ENST00000598107 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors TNFAIP8L1 HGNC TNMD 64102 genome.wustl.edu 37 X 99854613 99854613 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d X 99854613 99854613 G A SNP TNMD ENST00000373031 human ensembl 70_37 +1 known missense c.853 p.G285S 1.000 superfamily_Chitin-bd_1 pfam_BRICHOS_dom,superfamily_Chitin-bd_1,pfscan_BRICHOS_dom - no_errors TNMD HGNC TNMD 64102 genome.wustl.edu 37 X 99854613 99854613 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d X 99854613 99854613 G A SNP TNMD ENST00000373031 human ensembl 70_37 +1 known missense c.853 p.G285S 1.000 superfamily_Chitin-bd_1 pfam_BRICHOS_dom,superfamily_Chitin-bd_1,pfscan_BRICHOS_dom - no_errors TNMD HGNC TNNI3 7137 genome.wustl.edu 37 19 55669030 55669030 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 55669030 55669030 G A SNP TNNI3 ENST00000590463 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TNNI3 HGNC TNNI3 7137 genome.wustl.edu 37 19 55669030 55669030 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 55669030 55669030 G A SNP TNNI3 ENST00000590463 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TNNI3 HGNC TRHDE-AS1 283392 genome.wustl.edu 37 12 72656492 72656492 + RNA SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 12 72656492 72656492 C A SNP TRHDE-AS1 ENST00000426250 human ensembl 70_37 -1 known rna NULL NULL 0.990 - - - no_errors TRHDE-AS1 HGNC TRPM6 140803 genome.wustl.edu 37 9 77442675 77442675 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 9 77442675 77442675 G A SNP TRPM6 ENST00000359047 human ensembl 70_37 -1 known missense c.860 p.S287L 0.002 NULL NULL - no_errors TRPM6 HGNC TRPM6 140803 genome.wustl.edu 37 9 77442675 77442675 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 9 77442675 77442675 G A SNP TRPM6 ENST00000359047 human ensembl 70_37 -1 known missense c.860 p.S287L 0.002 NULL NULL - no_errors TRPM6 HGNC TRPS1 7227 genome.wustl.edu 37 8 116617063 116617063 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 8 116617063 116617063 G A SNP TRPS1 ENST00000395715 human ensembl 70_37 -1 known missense c.1133 p.S378F 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC TRPS1 7227 genome.wustl.edu 37 8 116617063 116617063 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 8 116617063 116617063 G A SNP TRPS1 ENST00000395715 human ensembl 70_37 -1 known missense c.1133 p.S378F 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC TRPV6 55503 genome.wustl.edu 37 7 142575713 142575713 + Silent SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 142575713 142575713 G C SNP TRPV6 ENST00000359396 human ensembl 70_37 -1 known silent c.195 p.L65 0.990 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV6 HGNC TRPV6 55503 genome.wustl.edu 37 7 142575713 142575713 + Silent SNP G G C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 142575713 142575713 G C SNP TRPV6 ENST00000359396 human ensembl 70_37 -1 known silent c.195 p.L65 0.990 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV6 HGNC UBE2I 7329 genome.wustl.edu 37 16 1358669 1358669 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 16 1358669 1358669 G T SNP UBE2I ENST00000339021 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors UBE2I HGNC UTS2B 257313 genome.wustl.edu 37 3 190999976 190999976 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 190999976 190999976 C T SNP UTS2D ENST00000446788 human ensembl 70_37 -1 known missense c.3 p.M1I 0.605 NULL NULL - no_errors UTS2D HGNC UTS2B 257313 genome.wustl.edu 37 3 190999976 190999976 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 3 190999976 190999976 C T SNP UTS2D ENST00000446788 human ensembl 70_37 -1 known missense c.3 p.M1I 0.605 NULL NULL - no_errors UTS2D HGNC VAPB 9217 genome.wustl.edu 37 20 56965216 56965216 + RNA SNP C C G TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 20 56965216 56965216 C G SNP VAPB ENST00000265619 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors VAPB HGNC VPS13C 54832 genome.wustl.edu 37 15 62223419 62223419 + Missense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 15 62223419 62223419 C A SNP VPS13C ENST00000261517 human ensembl 70_37 -1 known missense c.5908 p.G1970C 0.990 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13C HGNC VPS72 6944 genome.wustl.edu 37 1 151149168 151149168 + Silent SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 151149168 151149168 G T SNP VPS72 ENST00000368892 human ensembl 70_37 -1 known silent c.1047 p.L349 0.992 NULL pfam_YL1,pfam_YL1_C - no_errors VPS72 HGNC VPS72 6944 genome.wustl.edu 37 1 151149168 151149168 + Silent SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 151149168 151149168 G T SNP VPS72 ENST00000368892 human ensembl 70_37 -1 known silent c.1047 p.L349 0.992 NULL pfam_YL1,pfam_YL1_C - no_errors VPS72 HGNC WAPAL 23063 genome.wustl.edu 37 10 88196713 88196713 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 10 88196713 88196713 G T SNP WAPAL ENST00000484070 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors WAPAL HGNC WDR78 79819 genome.wustl.edu 37 1 67359062 67359062 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 1 67359062 67359062 C T SNP WDR78 ENST00000371026 human ensembl 70_37 -1 known missense c.380 p.R127Q 0.910 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR78 HGNC XIST 7503 genome.wustl.edu 37 X 73069529 73069529 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d X 73069529 73069529 G A SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC XIST 7503 genome.wustl.edu 37 X 73069529 73069529 + RNA SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d X 73069529 73069529 G A SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC XK 7504 genome.wustl.edu 37 X 37587667 37587667 + Missense_Mutation SNP T T A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d X 37587667 37587667 T A SNP XK ENST00000378616 human ensembl 70_37 +1 known missense c.1287 p.S429R 0.002 NULL pfam_Transport_prot_XK - no_errors XK HGNC XK 7504 genome.wustl.edu 37 X 37587667 37587667 + Missense_Mutation SNP T T A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d X 37587667 37587667 T A SNP XK ENST00000378616 human ensembl 70_37 +1 known missense c.1287 p.S429R 0.002 NULL pfam_Transport_prot_XK - no_errors XK HGNC ZAN 7455 genome.wustl.edu 37 7 100355966 100355966 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 100355966 100355966 G T SNP ZAN ENST00000546292 human ensembl 70_37 +1 known missense c.3451 p.A1151S 1.000 smart_VWC_out,smart_VWF_type-D pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ZBTB7A 51341 genome.wustl.edu 37 19 4054349 4054349 + Silent SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 4054349 4054349 C A SNP ZBTB7A ENST00000322357 human ensembl 70_37 -1 known silent c.882 p.P294 0.697 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7A HGNC ZKSCAN1 7586 genome.wustl.edu 37 7 99627904 99627904 + Silent SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 99627904 99627904 C A SNP ZKSCAN1 ENST00000324306 human ensembl 70_37 +1 known silent c.705 p.S235 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZKSCAN1 HGNC ZNF213 7760 genome.wustl.edu 37 16 3187585 3187585 + Missense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 16 3187585 3187585 C A SNP ZNF213 ENST00000396878 human ensembl 70_37 +1 known missense c.304 p.Q102K 0.739 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF213 HGNC ZNF443 10224 genome.wustl.edu 37 19 12542024 12542024 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 12542024 12542024 G A SNP ZNF443 ENST00000301547 human ensembl 70_37 -1 known missense c.962 p.S321F 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF443 HGNC ZNF443 10224 genome.wustl.edu 37 19 12542024 12542024 + Missense_Mutation SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 12542024 12542024 G A SNP ZNF443 ENST00000301547 human ensembl 70_37 -1 known missense c.962 p.S321F 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF443 HGNC ZNF479 90827 genome.wustl.edu 37 7 57188853 57188853 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 7 57188853 57188853 C T SNP ZNF479 ENST00000331162 human ensembl 70_37 -1 known missense c.269 p.R90H 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 ZNF479 HGNC ZNF563 147837 genome.wustl.edu 37 19 12429781 12429781 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 12429781 12429781 C T SNP ZNF563 ENST00000293725 human ensembl 70_37 -1 known missense c.1058 p.R353Q 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF563 HGNC ZNF563 147837 genome.wustl.edu 37 19 12429781 12429781 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 12429781 12429781 C T SNP ZNF563 ENST00000293725 human ensembl 70_37 -1 known missense c.1058 p.R353Q 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF563 HGNC ZNF577 84765 genome.wustl.edu 37 19 52391205 52391205 + RNA SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 19 52391205 52391205 G T SNP ZNF577 ENST00000485702 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF577 HGNC ZNF595 152687 genome.wustl.edu 37 4 85996 85997 + RNA INS - - C TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 4 85996 85997 - C INS ZNF595 ENST00000339368 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.009 - - - no_errors ZNF595 HGNC ZNF839 55778 genome.wustl.edu 37 14 102793113 102793113 + Silent SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 14 102793113 102793113 G A SNP ZNF839 ENST00000442396 human ensembl 70_37 +1 known silent c.1080 p.T360 0.002 NULL pfscan_Znf_C2H2 - no_errors ZNF839 HGNC ZNF839 55778 genome.wustl.edu 37 14 102793113 102793113 + Silent SNP G G A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 14 102793113 102793113 G A SNP ZNF839 ENST00000442396 human ensembl 70_37 +1 known silent c.1080 p.T360 0.002 NULL pfscan_Znf_C2H2 - no_errors ZNF839 HGNC ZW10 9183 genome.wustl.edu 37 11 113631297 113631297 + Nonsense_Mutation SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91a214f1-6376-43ff-bd4f-e1ae22fa2315 428b7c23-dee0-4bb4-acac-4fd6042ce07d 11 113631297 113631297 C A SNP ZW10 ENST00000200135 human ensembl 70_37 -1 known nonsense c.358 p.E120* 1.000 pfam_RZZ-complex_Zw10 pfam_RZZ-complex_Zw10 - no_errors ZW10 HGNC